#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
ACAP3	116983	broad.mit.edu	37	1	1235580	1235580	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:1235580G>A	ENST00000354700.5	-	7	727	c.525C>T	c.(523-525)atC>atT	p.I175I	ACAP3_ENST00000353662.3_Silent_p.I133I|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	175					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GCAGAACATTGATCTGCCAGA	0.632																																						uc001aeb.2		NaN																	0					0						c.(523-525)ATC>ATT		ArfGAP with coiled-coil, ankyrin repeat and PH							35.0	36.0	36.0					1																	1235580		2200	4294	6494	SO:0001819	synonymous_variant	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1235580G>A	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.525C>T	1.37:g.1235580G>A						ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Silent_p.I133I|ACAP3_uc001aec.1_Silent_p.I133I	p.I175I	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN			7	599	-			175					B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Silent	SNP	ENST00000354700.5	37	c.525C>T	CCDS19.2																																																																																				0.632	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2		NM_030649		13	15	0	0	0	0.013537	0	13	15		
TAS1R3	83756	broad.mit.edu	37	1	1267925	1267925	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:1267925G>A	ENST00000339381.5	+	3	1046	c.1014G>A	c.(1012-1014)gtG>gtA	p.V338V		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	338					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)			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)		CCCAGTACGTGAAGACGCACC	0.701																																						uc010nyk.1		NaN																	0					0						c.(1012-1014)GTG>GTA		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						34.0	36.0	36.0					1																	1267925		2199	4292	6491	SO:0001819	synonymous_variant	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.chr1:1267925G>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.1014G>A	1.37:g.1267925G>A							p.V338V	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)	3	1014	+	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)	338			Extracellular (Potential).		Q5TA49|Q8NGW9	Silent	SNP	ENST00000339381.5	37	c.1014G>A	CCDS30556.1																																																																																				0.701	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1				9	27	0	0	0	0.004482	0	9	27		
TAS1R3	83756	broad.mit.edu	37	1	1268955	1268955	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:1268955G>A	ENST00000339381.5	+	6	1702	c.1670G>A	c.(1669-1671)cGc>cAc	p.R557H		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	557					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)			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)		TGCTTCCGCCGCAGGTCTCGG	0.657																																						uc010nyk.1		NaN																	0					0						c.(1669-1671)CGC>CAC		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						48.0	56.0	53.0					1																	1268955		2199	4299	6498	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.chr1:1268955G>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.1670G>A	1.37:g.1268955G>A	ENSP00000344411:p.Arg557His						p.R557H	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)	6	1670	+	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)	557			Extracellular (Potential).		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1670G>A	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069420	0.36470	.	.	ENSG00000169962	ENST00000339381	D	0.89617	-2.54	4.16	4.16	0.48862	.	0.068626	0.64402	D	0.000010	D	0.94850	0.8336	M	0.87097	2.86	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	D	0.89220	0.3570	10	0.87932	D	0	.	16.7046	0.85368	0.0:0.0:1.0:0.0	.	557	Q7RTX0	TS1R3_HUMAN	H	557	ENSP00000344411:R557H	ENSP00000344411:R557H	R	+	2	0	TAS1R3	1258818	0.257000	0.24022	0.687000	0.30102	0.046000	0.14306	3.099000	0.50267	2.178000	0.69098	0.456000	0.33151	CGC		0.657	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1				11	31	0	0	0	0.010729	0	11	31		
LRRC47	57470	broad.mit.edu	37	1	3697705	3697705	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:3697705G>A	ENST00000378251.1	-	7	1726	c.1699C>T	c.(1699-1701)Ccg>Tcg	p.P567S	RN7SL574P_ENST00000581512.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	567							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GCCTTGGACGGGTACACCACC	0.652																																						uc001akx.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1699-1701)CCG>TCG		leucine rich repeat containing 47							66.0	72.0	70.0					1																	3697705		2203	4300	6503	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3697705G>A	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1699C>T	1.37:g.3697705G>A	ENSP00000367498:p.Pro567Ser						p.P567S	NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	7	1727	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	567					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.1699C>T	CCDS51.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854598	0.91355	.	.	ENSG00000130764	ENST00000378251	T	0.71579	-0.58	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.83188	0.5200	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85166	0.0995	10	0.87932	D	0	-32.6402	17.5952	0.88010	0.0:0.0:1.0:0.0	.	567	Q8N1G4	LRC47_HUMAN	S	567	ENSP00000367498:P567S	ENSP00000367498:P567S	P	-	1	0	LRRC47	3687565	1.000000	0.71417	0.995000	0.50966	0.860000	0.49131	9.047000	0.93823	2.396000	0.81511	0.655000	0.94253	CCG		0.652	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1		NM_020710		18	45	0	0	0	0.006122	0	18	45		
H6PD	9563	broad.mit.edu	37	1	9305294	9305294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:9305294C>T	ENST00000377403.2	+	2	603	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	H6PD_ENST00000602477.1_Nonsense_Mutation_p.Q112*	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	101	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GCACAAGGATCAGTTCCTGCA	0.617																																						uc001apt.2		NaN																	0					0						c.(301-303)CAG>TAG		hexose-6-phosphate dehydrogenase precursor	NADH(DB00157)						67.0	66.0	66.0					1																	9305294		2203	4300	6503	SO:0001587	stop_gained	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9305294C>T	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.301C>T	1.37:g.9305294C>T	ENSP00000366620:p.Gln101*						p.Q101*	NM_004285	NP_004276	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	2	574	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	101			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Nonsense_Mutation	SNP	ENST00000377403.2	37	c.301C>T	CCDS101.1	.	.	.	.	.	.	.	.	.	.	C	36	5.818351	0.96982	.	.	ENSG00000049239	ENST00000377403	.	.	.	5.31	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-34.879	15.3386	0.74280	0.0:0.8596:0.1403:0.0	.	.	.	.	X	101	.	ENSP00000366620:Q101X	Q	+	1	0	H6PD	9227881	1.000000	0.71417	0.865000	0.33974	0.361000	0.29550	7.363000	0.79516	1.353000	0.45828	-0.274000	0.10170	CAG		0.617	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2		NM_004285		39	29	0	0	0	0.019004	0	39	29		
VPS13D	55187	broad.mit.edu	37	1	12401928	12401928	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:12401928C>T	ENST00000358136.3	+	41	8848	c.8718C>T	c.(8716-8718)acC>acT	p.T2906T	VPS13D_ENST00000356315.4_Silent_p.T2881T	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)		CCACCCTGACCACCACACCCA	0.572																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(8716-8718)ACC>ACT		vacuolar protein sorting 13D isoform 1							87.0	85.0	86.0					1																	12401928		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12401928C>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.8718C>T	1.37:g.12401928C>T						VPS13D_uc001atw.2_Silent_p.T2881T|VPS13D_uc001atx.2_Silent_p.T2093T	p.T2906T	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)	41	8859	+	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)	2905						Silent	SNP	ENST00000358136.3	37	c.8718C>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	9.199	1.027911	0.19512	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.74	-0.0847	0.13689	.	.	.	.	.	T	0.39963	0.1098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24261	-1.0165	4	.	.	.	.	0.8188	0.01107	0.2877:0.2227:0.107:0.3826	.	.	.	.	L	1728	.	.	P	+	2	0	VPS13D	12324515	0.645000	0.27286	0.999000	0.59377	0.993000	0.82548	-0.206000	0.09398	0.064000	0.16427	-0.229000	0.12294	CCA		0.572	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		18	70	0	0	0	0.008871	0	18	70		
SPEN	23013	broad.mit.edu	37	1	16265886	16265886	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:16265886C>T	ENST00000375759.3	+	15	11163	c.10959C>T	c.(10957-10959)atC>atT	p.I3653I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3653	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTCCAACATCTCTCCCCACC	0.557																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(10957-10959)ATC>ATT		spen homolog, transcriptional regulator							222.0	210.0	214.0					1																	16265886		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16265886C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10959C>T	1.37:g.16265886C>T						SPEN_uc010obp.1_Silent_p.I3612I	p.I3653I	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	15	11163	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3653			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.10959C>T	CCDS164.1																																																																																				0.557	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		57	138	0	0	0	0.01441	0	57	138		
UBR4	23352	broad.mit.edu	37	1	19439182	19439182	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:19439182G>A	ENST00000375254.3	-	78	11664	c.11637C>T	c.(11635-11637)gtC>gtT	p.V3879V	UBR4_ENST00000375217.2_Silent_p.V3872V|UBR4_ENST00000375267.2_Silent_p.V3879V|UBR4_ENST00000375226.2_Silent_p.V3855V|UBR4_ENST00000375218.3_3'UTR	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3879					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)		AATGTTCTGTGACAGCCGAGG	0.582																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(11635-11637)GTC>GTT		retinoblastoma-associated factor 600							158.0	155.0	156.0					1																	19439182		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.chr1:19439182G>A	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.11637C>T	1.37:g.19439182G>A						UBR4_uc001bbj.1_3'UTR	p.V3879V	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)	78	11641	-		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)	3879					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.11637C>T	CCDS189.1																																																																																				0.582	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		44	112	0	0	0	0.011902	0	44	112		
HTR6	3362	broad.mit.edu	37	1	19992501	19992501	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:19992501G>A	ENST00000289753.1	+	1	722	c.255G>A	c.(253-255)ctG>ctA	p.L85L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	85					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		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;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	CGGCCATGCTGAACGCGCTGT	0.667																																					Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2		NaN																	0				ovary(1)	1						c.(253-255)CTG>CTA		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						38.0	38.0	38.0					1																	19992501		2202	4298	6500	SO:0001819	synonymous_variant	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992501G>A	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.255G>A	1.37:g.19992501G>A							p.L85L	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	722	+		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)	85			Helical; Name=2; (By similarity).		Q13640|Q5TGZ1	Silent	SNP	ENST00000289753.1	37	c.255G>A	CCDS197.1																																																																																				0.667	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1		NM_000871		8	36	0	0	0	0.00308	0	8	36		
RAP1GAP	5909	broad.mit.edu	37	1	21940120	21940120	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:21940120C>A	ENST00000374765.4	-	9	675		c.e9+1		RAP1GAP_ENST00000374757.3_Splice_Site|RAP1GAP_ENST00000290101.4_Splice_Site|RAP1GAP_ENST00000374763.2_Splice_Site|RAP1GAP_ENST00000542643.2_Splice_Site|RAP1GAP_ENST00000374761.2_Splice_Site	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein						GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGAGACCTCACCTTTGCCATC	0.597																																						uc001bex.2		NaN																	0				breast(2)|ovary(1)	3						c.e9+1		RAP1 GTPase activating protein isoform c							128.0	118.0	121.0					1																	21940120		2203	4300	6503	SO:0001630	splice_region_variant	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21940120C>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.474+1G>T	1.37:g.21940120C>A						RAP1GAP_uc001bev.2_Splice_Site_p.K158_splice|RAP1GAP_uc001bew.2_Splice_Site_p.K222_splice|RAP1GAP_uc001bey.2_Splice_Site_p.K158_splice	p.K158_splice	NM_002885	NP_002876	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	9	732	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)						J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Splice_Site	SNP	ENST00000374765.4	37	c.474_splice	CCDS218.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106411	0.77096	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758;ENST00000359708;ENST00000374757	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4654	0.61251	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAP1GAP	21812707	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.016000	0.76393	2.331000	0.79229	0.561000	0.74099	.		0.597	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2		NM_002885	Intron	28	36	1	0	1.16021e-09	0.007291	1.21631e-09	28	36		
MYOM3	127294	broad.mit.edu	37	1	24408602	24408602	+	Silent	SNP	G	G	C	rs201249392	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:24408602G>C	ENST00000374434.3	-	18	2331	c.2169C>G	c.(2167-2169)ccC>ccG	p.P723P	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.P723P|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000330966.7_Silent_p.P724P	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	723	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CACGACGCTTGGGGGGTTTCC	0.592													G|||	6	0.00119808	0.0	0.0	5008	,	,		20112	0.0		0.002	False		,,,				2504	0.0041					uc001bin.3		NaN																	0				skin(2)|ovary(1)	3						c.(2167-2169)CCC>CCG		myomesin family, member 3		G		2,3944		0,2,1971	34.0	35.0	34.0		2169	-2.3	1.0	1		34	3,8281		0,3,4139	no	coding-synonymous	MYOM3	NM_152372.3		0,5,6110	CC,CG,GG		0.0362,0.0507,0.0409		723/1438	24408602	5,12225	1973	4142	6115	SO:0001819	synonymous_variant	127294							g.chr1:24408602G>C	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2169C>G	1.37:g.24408602G>C						MYOM3_uc001bim.3_Silent_p.P380P|MYOM3_uc001bio.2_Silent_p.P723P|MYOM3_uc001bip.1_3'UTR	p.P723P	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	18	2332	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	723			Fibronectin type-III 4.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.2169C>G	CCDS41281.1																																																																																				0.592	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372		8	18	0	0	0	0.00308	0	8	18		
SEPN1	57190	broad.mit.edu	37	1	26135144	26135144	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:26135144G>A	ENST00000374315.1	+	4	547	c.509G>A	c.(508-510)cGc>cAc	p.R170H	SEPN1_ENST00000361547.2_Missense_Mutation_p.R204H|SEPN1_ENST00000354177.4_Missense_Mutation_p.R170H	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	204						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGCCACCCGCCACTTCCAG	0.657																																						uc010oer.1		NaN																	0				ovary(2)	2						c.(610-612)CGC>CAC		selenoprotein N, 1 isoform 1 precursor							65.0	77.0	73.0					1																	26135144		2055	4195	6250	SO:0001583	missense	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26135144G>A	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.509G>A	1.37:g.26135144G>A	ENSP00000363434:p.Arg170His					SEPN1_uc010oes.1_Missense_Mutation_p.R170H	p.R204H	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	7	666	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	204					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	c.611G>A	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263764	0.80358	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.88664	-2.41;-2.39;-2.39	5.97	5.06	0.68205	.	0.241685	0.47852	D	0.000214	D	0.88771	0.6527	L	0.51422	1.61	0.44136	D	0.996929	D;D	0.61697	0.983;0.99	P;P	0.51582	0.674;0.613	D	0.88172	0.2865	10	0.51188	T	0.08	-27.733	11.86	0.52461	0.1326:0.0:0.8674:0.0	.	170;204	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	H	204;170;170	ENSP00000355141:R204H;ENSP00000346109:R170H;ENSP00000363434:R170H	ENSP00000346109:R170H	R	+	2	0	SEPN1	26007731	0.999000	0.42202	1.000000	0.80357	0.702000	0.40608	1.692000	0.37731	2.837000	0.97791	0.655000	0.94253	CGC		0.657	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2		NM_020451		34	58	0	0	0	0.015359	0	34	58		
ARID1A	8289	broad.mit.edu	37	1	27059194	27059194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:27059194C>T	ENST00000324856.7	+	4	2202	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q228*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q611*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	611					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATTTGGGTCTCAGGCATCCTC	0.478			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(1831-1833)CAG>TAG		AT rich interactive domain 1A isoform a							135.0	119.0	125.0					1																	27059194		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27059194C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1831C>T	1.37:g.27059194C>T	ENSP00000320485:p.Gln611*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q611*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q611*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q228*	p.Q611*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	4	2204	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	611					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.1831C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	38	6.910370	0.97928	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-6.0683	19.8172	0.96573	0.0:1.0:0.0:0.0	.	.	.	.	X	611;611;228	.	ENSP00000320485:Q611X	Q	+	1	0	ARID1A	26931781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.905000	0.75714	2.702000	0.92279	0.491000	0.48974	CAG		0.478	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		19	69	0	0	0	0.006122	0	19	69		
FGR	2268	broad.mit.edu	37	1	27948152	27948152	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:27948152C>T	ENST00000374005.3	-	5	634	c.346G>A	c.(346-348)Gag>Aag	p.E116K	FGR_ENST00000374004.1_Missense_Mutation_p.E116K|FGR_ENST00000468038.1_5'Flank|FGR_ENST00000399173.1_Missense_Mutation_p.E116K|FGR_ENST00000545953.1_Intron	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	116	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GACCGAGCCTCCCACCAGTCA	0.592																																						uc001boj.2		NaN																	0				skin(2)	2						c.(346-348)GAG>AAG		proto-oncogene tyrosine-protein kinase FGR							107.0	95.0	99.0					1																	27948152		2203	4300	6503	SO:0001583	missense	2268				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:27948152C>T	BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"""SH2 domain containing"""	3697	protein-coding gene	gene with protein product		164940	"""Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog"", ""v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog"", ""feline Gardner-Rasheed sarcoma viral oncogene homolog"""	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.346G>A	1.37:g.27948152C>T	ENSP00000363117:p.Glu116Lys					FGR_uc001bok.2_Missense_Mutation_p.E116K|FGR_uc001bol.2_Missense_Mutation_p.E116K|FGR_uc001bom.2_Missense_Mutation_p.E116K	p.E116K	NM_005248	NP_005239	P09769	FGR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	3	492	-		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	116			SH3.		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	ENST00000374005.3	37	c.346G>A	CCDS305.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806803	0.50421	.	.	ENSG00000000938	ENST00000374005;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.93	4.93	0.64822	Src homology-3 domain (5);	0.000000	0.56097	D	0.000040	T	0.24774	0.0601	N	0.05280	-0.08	0.36151	D	0.84744	B	0.18166	0.026	B	0.19666	0.026	T	0.16364	-1.0405	10	0.20519	T	0.43	.	17.1075	0.86667	0.0:1.0:0.0:0.0	.	116	P09769	FGR_HUMAN	K	116	ENSP00000363117:E116K;ENSP00000382126:E116K;ENSP00000363116:E116K;ENSP00000363115:E116K;ENSP00000407670:E116K	ENSP00000363115:E116K	E	-	1	0	FGR	27820739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.887000	0.63156	2.440000	0.82611	0.555000	0.69702	GAG		0.592	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009772.1		NM_005248		14	44	0	0	0	0.00245	0	14	44		
PTPRU	10076	broad.mit.edu	37	1	29585795	29585795	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:29585795C>G	ENST00000345512.3	+	4	629	c.500C>G	c.(499-501)tCc>tGc	p.S167C	PTPRU_ENST00000373779.3_Missense_Mutation_p.S167C|PTPRU_ENST00000323874.8_Missense_Mutation_p.S167C|PTPRU_ENST00000356870.3_Missense_Mutation_p.S167C|PTPRU_ENST00000428026.2_Missense_Mutation_p.S167C|PTPRU_ENST00000460170.2_Missense_Mutation_p.S167C	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	167	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCCCTCATCTCCCCAGACCGC	0.642																																						uc001bru.2		NaN																	0				large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(499-501)TCC>TGC		protein tyrosine phosphatase, receptor type, U							45.0	47.0	46.0					1																	29585795		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29585795C>G	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.500C>G	1.37:g.29585795C>G	ENSP00000334941:p.Ser167Cys					PTPRU_uc001brv.2_Missense_Mutation_p.S167C|PTPRU_uc001brw.2_Missense_Mutation_p.S167C|PTPRU_uc009vtq.2_Missense_Mutation_p.S167C|PTPRU_uc009vtr.2_Missense_Mutation_p.S167C	p.S167C	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	4	610	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	167			Extracellular (Potential).|MAM.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.500C>G	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401842	0.62288	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36;4.36	5.12	5.12	0.69794	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.082213	0.50627	D	0.000120	T	0.04137	0.0115	M	0.65498	2.005	0.44241	D	0.997086	B;B;B;B;B	0.11235	0.001;0.004;0.001;0.004;0.001	B;B;B;B;B	0.13407	0.005;0.005;0.005;0.009;0.009	T	0.40059	-0.9583	9	.	.	.	.	14.1122	0.65129	0.1506:0.8494:0.0:0.0	.	167;167;167;167;167	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	C	167	ENSP00000334941:S167C;ENSP00000362884:S167C;ENSP00000349333:S167C;ENSP00000314987:S167C;ENSP00000392332:S167C;ENSP00000432906:S167C	.	S	+	2	0	PTPRU	29458382	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.894000	0.63206	2.390000	0.81377	0.491000	0.48974	TCC		0.642	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1				7	38	0	0	0	0.00308	0	7	38		
SPOCD1	90853	broad.mit.edu	37	1	32257898	32257898	+	Silent	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:32257898A>T	ENST00000360482.2	-	15	3009	c.2880T>A	c.(2878-2880)tcT>tcA	p.S960S	SPOCD1_ENST00000533231.1_Silent_p.S960S|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Silent_p.S453S|RP11-84A19.3_ENST00000527035.1_RNA	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	960	SPOC.				negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGTGCTCCACAGAGGCCAGCC	0.667																																						uc001bts.1		NaN																	0				ovary(5)|breast(1)	6						c.(2878-2880)TCT>TCA		SPOC domain containing 1							30.0	33.0	32.0					1																	32257898		2203	4300	6503	SO:0001819	synonymous_variant	90853				transcription, DNA-dependent			g.chr1:32257898A>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2880T>A	1.37:g.32257898A>T						SPOCD1_uc001btr.1_Silent_p.S48S|SPOCD1_uc001btt.2_Silent_p.S265S|SPOCD1_uc001btu.2_Silent_p.S960S|SPOCD1_uc001btv.2_Silent_p.S453S	p.S960S	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	15	2938	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	960			SPOC.		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Silent	SNP	ENST00000360482.2	37	c.2880T>A	CCDS347.1																																																																																				0.667	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1		NM_144569		8	11	0	0	0	0.004482	0	8	11		
RBBP4	5928	broad.mit.edu	37	1	33134689	33134689	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:33134689T>C	ENST00000373493.5	+	6	876	c.717T>C	c.(715-717)caT>caC	p.H239H	RBBP4_ENST00000373485.1_Silent_p.H239H|RBBP4_ENST00000524393.1_3'UTR|RBBP4_ENST00000544435.1_5'UTR|RBBP4_ENST00000414241.3_Silent_p.H238H|RBBP4_ENST00000458695.2_Silent_p.H204H	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	239					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ATCTACTCCATGAGTCTCTGT	0.413																																						uc001bvr.2		NaN																	0				ovary(1)	1						c.(715-717)CAT>CAC		retinoblastoma binding protein 4 isoform a							119.0	104.0	109.0					1																	33134689		2203	4300	6503	SO:0001819	synonymous_variant	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33134689T>C	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.717T>C	1.37:g.33134689T>C						RBBP4_uc001bvs.2_Silent_p.H238H|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Silent_p.H204H	p.H239H	NM_005610	NP_005601	Q09028	RBBP4_HUMAN			6	876	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	239			WD 3.		B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Silent	SNP	ENST00000373493.5	37	c.717T>C	CCDS366.1	.	.	.	.	.	.	.	.	.	.	T	8.834	0.940603	0.18281	.	.	ENSG00000162521	ENST00000475321	.	.	.	5.3	2.88	0.33553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.527	0.39171	0.0:0.1473:0.0:0.8527	.	.	.	.	R	42	.	.	X	+	1	0	RBBP4	32907276	0.996000	0.38824	1.000000	0.80357	0.979000	0.70002	0.315000	0.19451	0.378000	0.24764	0.402000	0.26972	TGA		0.413	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3		NM_005610		53	70	0	0	0	0.01441	0	53	70		
GJB4	127534	broad.mit.edu	37	1	35227557	35227557	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:35227557C>T	ENST00000339480.1	+	2	1072	c.702C>T	c.(700-702)tgC>tgT	p.C234C	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	234					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCGATACGTGCCCACCATATG	0.612																																						uc001bxv.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(700-702)TGC>TGT		gap junction protein, beta 4							52.0	45.0	47.0					1																	35227557		2203	4300	6503	SO:0001819	synonymous_variant	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227557C>T		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.702C>T	1.37:g.35227557C>T						GJB4_uc001bxw.3_Silent_p.C234C	p.C234C	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN			2	1072	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	234			Cytoplasmic (Potential).		B3KQ82	Silent	SNP	ENST00000339480.1	37	c.702C>T	CCDS383.1																																																																																				0.612	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1		NM_153212		26	47	0	0	0	0.005443	0	26	47		
THRAP3	9967	broad.mit.edu	37	1	36754808	36754808	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:36754808A>C	ENST00000354618.5	+	5	1412	c.1188A>C	c.(1186-1188)aaA>aaC	p.K396N	THRAP3_ENST00000469141.2_Missense_Mutation_p.K396N	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	396	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGCTCCCAAAACTGATTCTG	0.418			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	uc001cae.3		NaN		Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				ovary(5)|lung(3)|breast(1)	9						c.(1186-1188)AAA>AAC		thyroid hormone receptor associated protein 3							64.0	69.0	67.0					1																	36754808		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36754808A>C	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1188A>C	1.37:g.36754808A>C	ENSP00000346634:p.Lys396Asn					THRAP3_uc001caf.3_Missense_Mutation_p.K396N|THRAP3_uc001cag.1_Missense_Mutation_p.K396N	p.K396N	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN			5	1412	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	396					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.1188A>C	CCDS405.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563185	0.45694	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.14893	2.47;2.47	5.95	1.34	0.21922	.	0.077128	0.53938	D	0.000042	T	0.30386	0.0763	L	0.53249	1.67	0.31139	N	0.706815	D	0.71674	0.998	D	0.68943	0.961	T	0.18555	-1.0333	10	0.72032	D	0.01	-10.7636	8.7369	0.34534	0.4957:0.0:0.5043:0.0	.	396	Q9Y2W1	TR150_HUMAN	N	396	ENSP00000346634:K396N;ENSP00000433825:K396N	ENSP00000346634:K396N	K	+	3	2	THRAP3	36527395	0.989000	0.36119	1.000000	0.80357	0.994000	0.84299	1.617000	0.36943	0.218000	0.20820	0.533000	0.62120	AAA		0.418	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2		NM_005119		29	68	0	0	0	0.005443	0	29	68		
DPH2	1802	broad.mit.edu	37	1	44435913	44435913	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:44435913G>A	ENST00000255108.3	+	1	238	c.66G>A	c.(64-66)ctG>ctA	p.L22L	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000396758.2_Silent_p.L22L|DPH2_ENST00000412950.2_5'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	22					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGCCAGGACTGCTTACTCCTC	0.632																																						uc001ckz.2		NaN																	0				ovary(1)	1						c.(64-66)CTG>CTA		diphthamide biosynthesis protein 2 isoform a							71.0	75.0	74.0					1																	44435913		2203	4300	6503	SO:0001819	synonymous_variant	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44435913G>A	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.66G>A	1.37:g.44435913G>A						DPH2_uc001cla.2_Silent_p.L22L|DPH2_uc010okk.1_5'UTR|DPH2_uc001clb.2_5'UTR	p.L22L	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN			1	261	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	22					A8MVC9|B2RDE3|B4DNI8|O60623	Silent	SNP	ENST00000255108.3	37	c.66G>A	CCDS504.1																																																																																				0.632	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1		NM_001384		35	35	0	0	0	0.015359	0	35	35		
LRRC42	115353	broad.mit.edu	37	1	54417905	54417905	+	Missense_Mutation	SNP	G	G	T	rs546591876		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:54417905G>T	ENST00000371370.3	+	3	754	c.233G>T	c.(232-234)cGa>cTa	p.R78L	LRRC42_ENST00000319223.4_Missense_Mutation_p.R78L	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	78										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						ACATACACCCGAGAGGGGAAT	0.483																																						uc001cwj.1		NaN																	0					0						c.(232-234)CGA>CTA		leucine rich repeat containing 42							121.0	110.0	113.0					1																	54417905		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54417905G>T	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.233G>T	1.37:g.54417905G>T	ENSP00000360421:p.Arg78Leu					LRRC42_uc001cwl.1_Missense_Mutation_p.R78L|LRRC42_uc001cwk.1_Missense_Mutation_p.R78L|LRRC42_uc009vzm.1_Missense_Mutation_p.R78L	p.R78L	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN			2	433	+			78					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.233G>T	CCDS585.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567843	0.45798	.	.	ENSG00000116212	ENST00000371370;ENST00000371368;ENST00000319223;ENST00000444987	.	.	.	5.64	3.79	0.43588	.	0.279181	0.33691	N	0.004647	T	0.23846	0.0577	N	0.14661	0.345	0.30561	N	0.764513	B;B;B	0.31193	0.15;0.312;0.093	B;B;B	0.29524	0.072;0.103;0.033	T	0.18935	-1.0321	9	0.72032	D	0.01	-16.6877	7.2749	0.26279	0.3632:0.0:0.6368:0.0	.	78;78;78	E7EP35;A6NL66;Q9Y546	.;.;LRC42_HUMAN	L	78	.	ENSP00000318185:R78L	R	+	2	0	LRRC42	54190493	0.122000	0.22280	1.000000	0.80357	0.916000	0.54674	1.626000	0.37039	0.877000	0.35895	-0.143000	0.13931	CGA		0.483	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1		NM_052940		30	97	1	0	2.24059e-21	0.00632	2.43367e-21	30	97		
TMEM61	199964	broad.mit.edu	37	1	55452006	55452006	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:55452006C>A	ENST00000371268.3	+	2	526	c.252C>A	c.(250-252)ggC>ggA	p.G84G	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	84						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TGCTCATTGGCCTGCTGTGGT	0.647																																						uc001cyd.2		NaN																	0					0						c.(250-252)GGC>GGA		transmembrane protein 61							94.0	94.0	94.0					1																	55452006		2203	4300	6503	SO:0001819	synonymous_variant	199964					integral to membrane		g.chr1:55452006C>A	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.252C>A	1.37:g.55452006C>A							p.G84G	NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN			2	526	+			84			Helical; (Potential).			Silent	SNP	ENST00000371268.3	37	c.252C>A	CCDS601.1																																																																																				0.647	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1		NM_182532		26	94	1	0	3.01185e-09	0.003954	3.15139e-09	26	94		
DOCK7	85440	broad.mit.edu	37	1	62939693	62939693	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:62939693G>C	ENST00000340370.5	-	47	6096	c.6079C>G	c.(6079-6081)Cat>Gat	p.H2027D	DOCK7_ENST00000251157.5_Missense_Mutation_p.H2047D|DOCK7_ENST00000489185.1_5'UTR	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2058	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGTTTATTATGATGTCTGAAG	0.368																																						uc001daq.2		NaN																	0				ovary(2)	2						c.(6139-6141)CAT>GAT		dedicator of cytokinesis 7							54.0	60.0	58.0					1																	62939693		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62939693G>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.6079C>G	1.37:g.62939693G>C	ENSP00000340742:p.His2027Asp					DOCK7_uc001dan.2_Missense_Mutation_p.H1910D|DOCK7_uc001dao.2_Missense_Mutation_p.H1908D|DOCK7_uc001dap.2_Missense_Mutation_p.H2027D|DOCK7_uc001dam.2_Missense_Mutation_p.H1229D|DOCK7_uc010oov.1_Missense_Mutation_p.H788D|DOCK7_uc001dar.1_Missense_Mutation_p.H221D	p.H2047D	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			47	6173	-			2058			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.6139C>G	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.301377|4.301377	0.81136|0.81136	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	T;T|.	0.17691|.	2.26;2.26|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74321|.	0.3701|.	L|L	0.61036|0.61036	1.89|1.89	0.80722|0.80722	D|D	1|1	B;B;B;B;P;B|.	0.39940|.	0.17;0.234;0.141;0.141;0.696;0.128|.	B;B;B;B;P;B|.	0.49047|.	0.297;0.197;0.281;0.156;0.599;0.255|.	T|.	0.71321|.	-0.4628|.	10|.	0.62326|.	D|.	0.03|.	.|.	19.6576|19.6576	0.95849|0.95849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2058;2047;2027;2016;2018;2049|.	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	DOCK7_HUMAN;.;.;.;.;.|.	D|X	2058;2047;2027;788|1220	ENSP00000251157:H2047D;ENSP00000340742:H2027D|.	ENSP00000251157:H2047D|.	H|S	-|-	1|2	0|0	DOCK7|DOCK7	62712281|62712281	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.775000|9.775000	0.98995|0.98995	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.368	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1		NM_033407		14	29	0	0	0	0.00499	0	14	29		
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74737353	74737353	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:74737353C>T	ENST00000370899.3	+	7	745	c.708C>T	c.(706-708)ctC>ctT	p.L236L	TNNI3K_ENST00000370891.2_Silent_p.L236L|TNNI3K_ENST00000326637.3_Silent_p.L135L|FPGT-TNNI3K_ENST00000557284.2_Silent_p.L249L|FPGT-TNNI3K_ENST00000370895.1_Silent_p.L236L	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		ACGGTGGCCTCACTGCCCTCC	0.433																																						uc001dgf.1		NaN																	0				large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(403-405)CTC>CTT		TNNI3 interacting kinase isoform b							161.0	154.0	156.0					1																	74737353		2203	4299	6502	SO:0001819	synonymous_variant	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74737353C>T			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.708C>T	1.37:g.74737353C>T						TNNI3K_uc001dgc.1_Silent_p.L236L|TNNI3K_uc001dgd.2_Silent_p.L236L|TNNI3K_uc001dge.1_Silent_p.L236L	p.L135L	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			5	456	+			135			ANK 3.			Silent	SNP	ENST00000370899.3	37	c.405C>T																																																																																					0.433	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3				38	57	0	0	0	0.005524	0	38	57		
WDR63	126820	broad.mit.edu	37	1	85592370	85592370	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:85592370C>G	ENST00000294664.6	+	20	2469	c.2289C>G	c.(2287-2289)atC>atG	p.I763M	WDR63_ENST00000326813.8_Missense_Mutation_p.I724M|WDR63_ENST00000370596.1_Missense_Mutation_p.I724M	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	763										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TAACTATGATCACCTACATCA	0.383																																						uc001dkt.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(2287-2289)ATC>ATG		WD repeat domain 63							92.0	90.0	91.0					1																	85592370		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85592370C>G		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2289C>G	1.37:g.85592370C>G	ENSP00000294664:p.Ile763Met					WDR63_uc009wcl.2_Missense_Mutation_p.I724M	p.I763M	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	20	2480	+			763			WD 5.		A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.2289C>G	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624771	0.46840	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000484007	T;T;T;T	0.65916	-0.18;-0.18;-0.18;1.17	5.03	3.14	0.36123	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71871	0.3391	M	0.85859	2.78	0.46981	D	0.999279	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.75557	-0.3276	10	0.72032	D	0.01	-22.0302	9.88	0.41227	0.0:0.7173:0.0:0.2827	.	724;763	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	M	724;724;763;45	ENSP00000359628:I724M;ENSP00000317463:I724M;ENSP00000294664:I763M;ENSP00000435544:I45M	ENSP00000294664:I763M	I	+	3	3	WDR63	85364958	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	0.878000	0.28126	0.628000	0.30357	0.557000	0.71058	ATC		0.383	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2		NM_145172		27	46	0	0	0	0.007291	0	27	46		
PLPPR5	163404	broad.mit.edu	37	1	99387566	99387566	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:99387566G>A	ENST00000263177.4	-	4	891	c.670C>T	c.(670-672)Cca>Tca	p.P224S	LPPR5_ENST00000370188.3_Missense_Mutation_p.P224S	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		224						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										CATAGAACTGGCTTAGCAAGT	0.368																																						uc001dsb.2		NaN																	0					0						c.(670-672)CCA>TCA		phosphatidic acid phosphatase type 2d isoform 1							123.0	116.0	118.0					1																	99387566		2203	4300	6503	SO:0001583	missense	163404					integral to membrane	hydrolase activity	g.chr1:99387566G>A																												ENST00000263177.4:c.670C>T	1.37:g.99387566G>A	ENSP00000263177:p.Pro224Ser					LPPR5_uc001dsc.2_Missense_Mutation_p.P224S	p.P224S	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			4	892	-			224					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.670C>T	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118613	0.77323	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.80566	-1.39;-1.39	5.41	4.48	0.54585	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.159063	0.56097	D	0.000022	D	0.85106	0.5621	M	0.68317	2.08	0.53688	D	0.999971	D;D	0.76494	0.999;0.999	D;D	0.70016	0.945;0.967	D	0.87538	0.2457	10	0.87932	D	0	.	15.1125	0.72368	0.0:0.1422:0.8578:0.0	.	224;224	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	S	224	ENSP00000359207:P224S;ENSP00000263177:P224S	ENSP00000263177:P224S	P	-	1	0	AL161744.1	99160154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.245000	0.43885	0.467000	0.42956	CCA		0.368	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1				13	36	0	0	0	0.013537	0	13	36		
PSMA5	5686	broad.mit.edu	37	1	109957934	109957934	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:109957934C>G	ENST00000271308.4	-	3	168	c.148G>C	c.(148-150)Gtg>Ctg	p.V50L	PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	50					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 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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		CTCTTCTCCACAGCTAGGCAC	0.433																																						uc001dxn.2		NaN																	0					0						c.(148-150)GTG>CTG		proteasome alpha 5 subunit							158.0	138.0	144.0					1																	109957934		2203	4300	6503	SO:0001583	missense	5686				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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr1:109957934C>G	X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106		"""Proteasome (prosome, macropain) subunits"""	9534	protein-coding gene	gene with protein product		176844				1888762	Standard	NM_002790		Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.148G>C	1.37:g.109957934C>G	ENSP00000271308:p.Val50Leu					PSMA5_uc010ovj.1_5'UTR	p.V50L	NM_002790	NP_002781	P28066	PSA5_HUMAN		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)	3	233	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	50					B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Missense_Mutation	SNP	ENST00000271308.4	37	c.148G>C	CCDS799.1	.	.	.	.	.	.	.	.	.	.	c	31	5.059152	0.93846	.	.	ENSG00000143106	ENST00000271308	T	0.24350	1.86	5.89	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	H	0.94306	3.52	0.80722	D	1	B	0.33694	0.421	P	0.48400	0.576	T	0.52049	-0.8627	9	.	.	.	-15.1516	13.9602	0.64175	0.0:0.9263:0.0:0.0737	.	50	P28066	PSA5_HUMAN	L	50	ENSP00000271308:V50L	.	V	-	1	0	PSMA5	109759457	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.795000	0.85887	1.505000	0.48720	-0.235000	0.12190	GTG		0.433	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033192.2		NM_002790		29	31	0	0	0	0.00632	0	29	31		
GSTM4	2948	broad.mit.edu	37	1	110199865	110199865	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:110199865G>A	ENST00000369836.4	+	3	450	c.141G>A	c.(139-141)ctG>ctA	p.L47L	GSTM4_ENST00000369833.1_5'UTR|GSTM4_ENST00000336075.5_Silent_p.L47L|GSTM4_ENST00000326729.5_Silent_p.L47L|GSTM4_ENST00000495742.1_3'UTR	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	47	GST N-terminal.|Glutathione binding. {ECO:0000250}.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GCCAGTGGCTGAATGAAAAAT	0.567																																						uc001dyf.2		NaN																	0					0						c.(139-141)CTG>CTA		glutathione S-transferase mu 4 isoform 1	Glutathione(DB00143)						53.0	56.0	55.0					1																	110199865		2203	4300	6503	SO:0001819	synonymous_variant	2948				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110199865G>A	M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4636	protein-coding gene	gene with protein product		138333	"""glutathione S-transferase M4"""			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.141G>A	1.37:g.110199865G>A						GSTM4_uc009wfi.2_3'UTR|GSTM4_uc001dyg.2_5'UTR|GSTM4_uc009wfj.2_Silent_p.L47L|GSTM4_uc001dyh.2_Silent_p.L47L|GSTM2_uc001dyi.2_Intron	p.L47L	NM_000850	NP_000841	Q03013	GSTM4_HUMAN		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	3	455	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	47			Glutathione binding (By similarity).|GST N-terminal.		A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Silent	SNP	ENST00000369836.4	37	c.141G>A	CCDS807.1																																																																																				0.567	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032187.1		NM_000850		19	44	0	0	0	0.012319	0	19	44		
PRPF3	9129	broad.mit.edu	37	1	150307445	150307445	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:150307445G>T	ENST00000324862.6	+	7	933	c.768G>T	c.(766-768)ctG>ctT	p.L256L	PRPF3_ENST00000414970.2_Silent_p.L207L|PRPF3_ENST00000543398.1_Silent_p.L121L|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	256					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTACACCACTGATCCTGGATG	0.448																																					Ovarian(168;1070 2670 5178 20729)	uc001eum.3		NaN																	0				ovary(1)	1						c.(766-768)CTG>CTT		PRP3 pre-mRNA processing factor 3 homolog							83.0	71.0	75.0					1																	150307445		2203	4300	6503	SO:0001819	synonymous_variant	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150307445G>T	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.768G>T	1.37:g.150307445G>T						PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Silent_p.L215L|PRPF3_uc010pcb.1_Silent_p.L207L|PRPF3_uc009wlq.1_RNA	p.L256L	NM_004698	NP_004689	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	7	930	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		256					B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	37	c.768G>T	CCDS951.1																																																																																				0.448	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1		NM_004698		14	11	1	0	0.000308642	0.003163	0.000315036	14	11		
TARS2	80222	broad.mit.edu	37	1	150471769	150471769	+	Splice_Site	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:150471769G>T	ENST00000369064.3	+	13	1651	c.1617G>T	c.(1615-1617)aaG>aaT	p.K539N	TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000606933.1_Splice_Site_p.K457N|TARS2_ENST00000369054.2_Splice_Site_p.K409N	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	539					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ATGGACCTAAGGTAAGCTTGG	0.373																																						uc001euq.2		NaN																	0				ovary(1)	1						c.(1615-1617)AAG>AAT		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						136.0	134.0	135.0					1																	150471769		2203	4300	6503	SO:0001630	splice_region_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150471769G>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1617+1G>T	1.37:g.150471769G>T						TARS2_uc010pcd.1_RNA|TARS2_uc001eur.2_Missense_Mutation_p.K457N|TARS2_uc009wlt.2_Missense_Mutation_p.K165N|TARS2_uc009wls.2_Missense_Mutation_p.K409N	p.K539N	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		13	1624	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-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)		539					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.1617G>T	CCDS952.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057828	0.76074	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.19	3.33	0.38152	Aminoacyl-tRNA synthetase, class II (1);	0.132809	0.48286	D	0.000191	T	0.74068	0.3668	M	0.89030	3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.78099	-0.2336	9	0.87932	D	0	-9.3299	9.7194	0.40293	0.1688:0.0:0.8312:0.0	.	409;264;539	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	N	409;539;264;264	.	ENSP00000358047:K264N	K	+	3	2	TARS2	148738393	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	5.062000	0.64326	0.780000	0.33566	0.591000	0.81541	AAG		0.373	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1		NM_025150	Missense_Mutation	48	80	1	0	2.24722e-20	0.01441	2.43599e-20	48	80		
F11R	50848	broad.mit.edu	37	1	160970508	160970508	+	Missense_Mutation	SNP	G	G	A	rs116727809	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:160970508G>A	ENST00000368026.6	-	4	575	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Intron|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	101	Ig-like V-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GTGTCTTCCCGTGTCACGGAC	0.542													G|||	3	0.000599042	0.0008	0.0	5008	,	,		22026	0.0		0.002	False		,,,				2504	0.0					uc009wtt.2		NaN																	0				ovary(2)	2						c.(301-303)CGG>TGG		F11 receptor precursor		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	176.0	123.0	141.0		301	5.4	1.0	1	dbSNP_132	141	5,8595	4.3+/-15.6	0,5,4295	yes	missense	F11R	NM_016946.4	101	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	probably-damaging	101/300	160970508	6,13000	2203	4300	6503	SO:0001583	missense	50848				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		g.chr1:160970508G>A	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.301C>T	1.37:g.160970508G>A	ENSP00000357005:p.Arg101Trp					F11R_uc010pjv.1_Intron|F11R_uc001fxe.3_Missense_Mutation_p.R101W|F11R_uc009wtu.2_Missense_Mutation_p.R101W|F11R_uc010pjw.1_Missense_Mutation_p.R105W|F11R_uc001fxf.3_Missense_Mutation_p.R101W	p.R101W	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)		4	571	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		101			Extracellular (Potential).|Ig-like V-type 1.		B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	c.301C>T	CCDS1213.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	0	0.0	2	0.002638522427440633	G	15.48	2.844875	0.51164	2.27E-4	5.81E-4	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000436182	T;T	0.66815	-0.23;-0.23	5.36	5.36	0.76844	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.133822	0.51477	D	0.000096	T	0.81894	0.4919	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	D	0.84972	0.0883	10	0.56958	D	0.05	.	11.6475	0.51269	0.0:0.0:0.8225:0.1775	.	105;101;101;101	B7Z5W1;Q6FIB4;Q9Y624;D3DVF0	.;.;JAM1_HUMAN;.	W	101;101;101;105	ENSP00000357005:R101W;ENSP00000394809:R105W	ENSP00000289779:R101W	R	-	1	2	F11R	159237132	1.000000	0.71417	0.994000	0.49952	0.016000	0.09150	1.845000	0.39279	2.495000	0.84180	0.563000	0.77884	CGG		0.542	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3		NM_016946		13	38	0	0	0	0.016723	0	13	38		
TNR	7143	broad.mit.edu	37	1	175334312	175334312	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:175334312G>A	ENST00000367674.2	-	12	3129	c.2421C>T	c.(2419-2421)aaC>aaT	p.N807N	TNR_ENST00000263525.2_Silent_p.N807N			Q92752	TENR_HUMAN	tenascin R	807	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGGGCTGTAGTTAAGAATGA	0.532																																						uc001gkp.1		NaN																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2419-2421)AAC>AAT		tenascin R precursor							111.0	104.0	107.0					1																	175334312		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175334312G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2421C>T	1.37:g.175334312G>A						TNR_uc009wwu.1_Silent_p.N807N	p.N807N	NM_003285	NP_003276	Q92752	TENR_HUMAN			10	2502	-	Renal(580;0.146)		807			Fibronectin type-III 6.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.2421C>T	CCDS1318.1																																																																																				0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285		11	28	0	0	0	0.010729	0	11	28		
PAPPA2	60676	broad.mit.edu	37	1	176659286	176659286	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:176659286C>T	ENST00000367662.3	+	5	3315	c.2151C>T	c.(2149-2151)ctC>ctT	p.L717L	PAPPA2_ENST00000367661.3_Silent_p.L717L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	717	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCATTGTCCTCAGCCCAGCAT	0.423																																						uc001gkz.2		NaN																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2149-2151)CTC>CTT		pappalysin 2 isoform 1							103.0	96.0	98.0					1																	176659286		2046	4235	6281	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176659286C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2151C>T	1.37:g.176659286C>T						PAPPA2_uc001gky.1_Silent_p.L717L|PAPPA2_uc009www.2_RNA	p.L717L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			5	3315	+			717			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.2151C>T	CCDS41438.1																																																																																				0.423	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1				24	60	0	0	0	0.016522	0	24	60		
CACNA1E	777	broad.mit.edu	37	1	181745299	181745299	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:181745299C>T	ENST00000367573.2	+	38	5202	c.5202C>T	c.(5200-5202)tcC>tcT	p.S1734S	CACNA1E_ENST00000526775.1_Silent_p.S1715S|CACNA1E_ENST00000367570.1_Silent_p.S1734S|CACNA1E_ENST00000367567.4_Silent_p.S1341S|CACNA1E_ENST00000360108.3_Silent_p.S1715S|CACNA1E_ENST00000357570.5_Silent_p.S1685S|CACNA1E_ENST00000358338.5_Silent_p.S1666S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1734					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGACTCCTCCATCCTGGGGC	0.607																																						uc001gow.2		NaN																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5200-5202)TCC>TCT		calcium channel, voltage-dependent, R type,							163.0	166.0	165.0					1																	181745299		1999	4186	6185	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181745299C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5202C>T	1.37:g.181745299C>T						CACNA1E_uc009wxs.2_Silent_p.S1622S|CACNA1E_uc001gox.1_Silent_p.S960S|CACNA1E_uc009wxt.2_Silent_p.S960S	p.S1734S	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			38	5367	+			1734			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.5202C>T	CCDS55664.1																																																																																				0.607	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2		NM_000721		6	117	0	0	0	0.001168	0	6	117		
RGS16	6004	broad.mit.edu	37	1	182572448	182572448	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:182572448C>A	ENST00000367558.5	-	2	219	c.71G>T	c.(70-72)gGg>gTg	p.G24V		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	24					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						AAGAAAGATCCCCAGACGTGT	0.478																																						uc001gpl.3		NaN																	0				ovary(1)	1						c.(70-72)GGG>GTG		regulator of G-protein signalling 16							155.0	140.0	145.0					1																	182572448		2203	4300	6503	SO:0001583	missense	6004				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:182572448C>A	U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"""Regulators of G-protein signaling"""	9997	protein-coding gene	gene with protein product		602514	"""regulator of G-protein signalling 16"""			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.71G>T	1.37:g.182572448C>A	ENSP00000356529:p.Gly24Val					RGS16_uc010pnv.1_Missense_Mutation_p.G24V	p.G24V	NM_002928	NP_002919	O15492	RGS16_HUMAN			2	225	-			24					B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	ENST00000367558.5	37	c.71G>T	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759714	0.89932	.	.	ENSG00000143333	ENST00000367558	T	0.58940	0.3	5.25	5.25	0.73442	.	0.050434	0.85682	D	0.000000	T	0.78978	0.4369	M	0.86097	2.795	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.75020	0.937;0.985	T	0.82766	-0.0295	10	0.87932	D	0	.	17.6306	0.88106	0.0:1.0:0.0:0.0	.	24;24	B4DVW5;O15492	.;RGS16_HUMAN	V	24	ENSP00000356529:G24V	ENSP00000356529:G24V	G	-	2	0	RGS16	180839071	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.144000	0.71762	2.451000	0.82905	0.561000	0.74099	GGG		0.478	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1		NM_002928		26	36	1	0	3.65163e-15	0.00632	3.87316e-15	26	36		
IVNS1ABP	10625	broad.mit.edu	37	1	185269206	185269206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:185269206G>A	ENST00000367498.3	-	13	2048	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Nonsense_Mutation_p.Q258*	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	476					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AGTCCTTTTTGACCATATGGA	0.323																																						uc001grl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(1426-1428)CAA>TAA		influenza virus NS1A binding protein							100.0	95.0	96.0					1																	185269206		2203	4300	6503	SO:0001587	stop_gained	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185269206G>A	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1426C>T	1.37:g.185269206G>A	ENSP00000356468:p.Gln476*					IVNS1ABP_uc001gri.2_Nonsense_Mutation_p.Q136*|IVNS1ABP_uc001grj.2_Nonsense_Mutation_p.Q136*|IVNS1ABP_uc009wyj.2_Nonsense_Mutation_p.Q258*|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Nonsense_Mutation_p.Q136*	p.Q476*	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			13	2049	-			476			Kelch 3.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Nonsense_Mutation	SNP	ENST00000367498.3	37	c.1426C>T	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	G	45	11.290727	0.99542	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	.	.	.	5.61	5.61	0.85477	.	0.049785	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	.	.	.	X	476;258	.	ENSP00000356468:Q476X	Q	-	1	0	IVNS1ABP	183535829	1.000000	0.71417	0.974000	0.42286	0.764000	0.43329	9.388000	0.97237	2.793000	0.96121	0.655000	0.94253	CAA		0.323	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1		NM_006469		19	30	0	0	0	0.007413	0	19	30		
HMCN1	83872	broad.mit.edu	37	1	186057737	186057737	+	Splice_Site	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:186057737G>C	ENST00000271588.4	+	63	9806		c.e63-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCTACCTCTAGAAAATTCTGA	0.338																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.e63-1		hemicentin 1 precursor							36.0	40.0	38.0					1																	186057737		2202	4299	6501	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186057737G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9578-1G>C	1.37:g.186057737G>C							p.E3193_splice	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			63	9807	+								A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.9578_splice	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902878	0.72754	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2898	0.66270	0.0:0.0:0.8515:0.1485	.	.	.	.	.	-1	.	.	.	+	.	.	HMCN1	184324360	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.460000	0.80816	2.592000	0.87571	0.650000	0.86243	.		0.338	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935	Intron	9	15	0	0	0	0.006214	0	9	15		
ASPM	259266	broad.mit.edu	37	1	197072405	197072405	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:197072405G>C	ENST00000367409.4	-	18	6232	c.5976C>G	c.(5974-5976)atC>atG	p.I1992M	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1992	IQ 13. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTTTCATGATTTTCCACT	0.338																																						uc001gtu.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(5974-5976)ATC>ATG		asp (abnormal spindle)-like, microcephaly							125.0	127.0	126.0					1																	197072405		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072405G>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5976C>G	1.37:g.197072405G>C	ENSP00000356379:p.Ile1992Met					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.I1992M	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	6233	-			1992			IQ 13.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.5976C>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	g	9.694	1.152802	0.21371	.	.	ENSG00000066279	ENST00000367409	T	0.71698	-0.59	5.6	-0.0671	0.13762	.	2.138070	0.01935	N	0.041532	T	0.65811	0.2727	M	0.65975	2.015	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.40270	-0.9572	10	0.46703	T	0.11	.	1.5347	0.02542	0.3866:0.2322:0.2634:0.1178	.	1992	Q8IZT6	ASPM_HUMAN	M	1992	ENSP00000356379:I1992M	ENSP00000356379:I1992M	I	-	3	3	ASPM	195339028	0.000000	0.05858	0.000000	0.03702	0.974000	0.67602	0.088000	0.14979	0.210000	0.20664	0.645000	0.84053	ATC		0.338	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136		29	80	0	0	0	0.005443	0	29	80		
CR2	1380	broad.mit.edu	37	1	207644106	207644106	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:207644106T>C	ENST00000367058.3	+	7	1436	c.1247T>C	c.(1246-1248)aTc>aCc	p.I416T	CR2_ENST00000458541.2_Missense_Mutation_p.I416T|CR2_ENST00000367059.3_Missense_Mutation_p.I416T|CR2_ENST00000367057.3_Missense_Mutation_p.I416T	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	416	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCTCCTAACATCCTCAATGGG	0.408																																						uc001hfw.2		NaN																	0				upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(1246-1248)ATC>ACC		complement component (3d/Epstein Barr virus)							86.0	84.0	85.0					1																	207644106		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207644106T>C	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1247T>C	1.37:g.207644106T>C	ENSP00000356025:p.Ile416Thr					CR2_uc001hfv.2_Missense_Mutation_p.I416T|CR2_uc009xch.2_Missense_Mutation_p.I416T|CR2_uc009xci.1_5'Flank	p.I416T	NM_001877	NP_001868	P20023	CR2_HUMAN			7	1341	+			416			Sushi 7.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.1247T>C	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452844	0.63290	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	4.57	4.57	0.56435	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.82820	0.5120	M	0.89715	3.055	0.36962	D	0.893374	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76575	0.986;0.988;0.976	D	0.87118	0.2189	9	0.49607	T	0.09	.	10.9178	0.47146	0.0:0.0:0.0:1.0	.	416;416;416	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	T	416	ENSP00000356025:I416T;ENSP00000356024:I416T;ENSP00000356026:I416T;ENSP00000404222:I416T	ENSP00000356024:I416T	I	+	2	0	CR2	205710729	0.767000	0.28508	0.997000	0.53966	0.968000	0.65278	3.643000	0.54374	2.003000	0.58678	0.533000	0.62120	ATC		0.408	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1		NM_001877		16	41	0	0	0	0.006122	0	16	41		
SLC30A1	7779	broad.mit.edu	37	1	211751728	211751728	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:211751728C>T	ENST00000367001.4	-	1	356	c.227G>A	c.(226-228)cGa>cAa	p.R76Q		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	76					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)	p.R76L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TACCTCGGCTCGGATCCAGCC	0.662																																						uc001hio.1		NaN																	1	Substitution - Missense(1)	p.R76L(1)	ovary(1)	ovary(3)|central_nervous_system(1)	4						c.(226-228)CGA>CAA		solute carrier family 30 (zinc transporter),							36.0	45.0	42.0					1																	211751728		2203	4300	6503	SO:0001583	missense	7779				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	g.chr1:211751728C>T	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.227G>A	1.37:g.211751728C>T	ENSP00000355968:p.Arg76Gln						p.R76Q	NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)	1	372	-			76			Cytoplasmic (Potential).		Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	37	c.227G>A	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	C	35	5.474434	0.96291	.	.	ENSG00000170385	ENST00000367001	T	0.73575	-0.76	3.68	3.68	0.42216	.	0.000000	0.85682	D	0.000000	D	0.89767	0.6810	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92942	0.6373	10	0.62326	D	0.03	-8.1932	15.5717	0.76345	0.0:1.0:0.0:0.0	.	76	Q9Y6M5	ZNT1_HUMAN	Q	76	ENSP00000355968:R76Q	ENSP00000355968:R76Q	R	-	2	0	SLC30A1	209818351	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.787000	0.75099	1.881000	0.54492	0.400000	0.26472	CGA		0.662	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2				8	13	0	0	0	0.00308	0	8	13		
MARK1	4139	broad.mit.edu	37	1	220825429	220825429	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:220825429C>G	ENST00000366917.4	+	15	1939	c.1673C>G	c.(1672-1674)tCt>tGt	p.S558C	MARK1_ENST00000402574.1_Missense_Mutation_p.S423C|MARK1_ENST00000366918.4_Missense_Mutation_p.S536C					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ATGTCCACTTCTGGTCATCCT	0.493																																						uc001hmn.3		NaN																	0				ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(1672-1674)TCT>TGT		MAP/microtubule affinity-regulating kinase 1							124.0	115.0	118.0					1																	220825429		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220825429C>G	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1673C>G	1.37:g.220825429C>G	ENSP00000355884:p.Ser558Cys					MARK1_uc009xdw.2_Missense_Mutation_p.S558C|MARK1_uc010pun.1_Missense_Mutation_p.S558C|MARK1_uc001hmm.3_Missense_Mutation_p.S536C	p.S558C	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	15	2270	+			558						Missense_Mutation	SNP	ENST00000366917.4	37	c.1673C>G	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	33	5.282456	0.95489	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.74737	-0.77;-0.56;-0.87	5.95	5.95	0.96441	.	0.061993	0.64402	D	0.000002	D	0.84147	0.5408	M	0.74881	2.28	0.80722	D	1	D;B;P;B	0.71674	0.998;0.012;0.9;0.037	P;B;P;B	0.55785	0.784;0.005;0.593;0.046	D	0.85187	0.1007	10	0.87932	D	0	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	558;423;558;536	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	C	423;536;558	ENSP00000386017:S423C;ENSP00000355885:S536C;ENSP00000355884:S558C	ENSP00000355884:S558C	S	+	2	0	MARK1	218892052	1.000000	0.71417	0.347000	0.25668	0.990000	0.78478	7.576000	0.82467	2.817000	0.96982	0.563000	0.77884	TCT		0.493	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1				25	46	0	0	0	0.01892	0	25	46		
EXO1	9156	broad.mit.edu	37	1	242052811	242052811	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:242052811T>G	ENST00000366548.3	+	16	3043	c.2450T>G	c.(2449-2451)gTc>gGc	p.V817G	EXO1_ENST00000518483.1_3'UTR|EXO1_ENST00000348581.5_Missense_Mutation_p.V817G	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	817	Interaction with MLH1.|Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CTGTCCCCAGTCAGAGATAAC	0.373								Editing and processing nucleases																														uc001hzh.2		NaN																	0				ovary(2)|lung(2)|skin(1)	5						c.(2449-2451)GTC>GGC	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							88.0	90.0	89.0					1																	242052811		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242052811T>G	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2450T>G	1.37:g.242052811T>G	ENSP00000355506:p.Val817Gly					EXO1_uc001hzi.2_3'UTR|EXO1_uc001hzj.2_Missense_Mutation_p.V817G|EXO1_uc009xgq.2_Missense_Mutation_p.V816G	p.V817G	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		16	2990	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	817			Interaction with MLH1.|Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.2450T>G	CCDS1620.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.94|18.94	3.730606|3.730606	0.69074|0.69074	.|.	.|.	ENSG00000174371|ENSG00000174371	ENST00000521202|ENST00000366548;ENST00000348581	.|T;T	.|0.68331	.|-0.32;-0.32	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.136621	.|0.49916	.|D	.|0.000138	T|T	0.77751|0.77751	0.4177|0.4177	M|M	0.65975|0.65975	2.015|2.015	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.71674	.|0.996;0.998	.|P;P	.|0.62014	.|0.794;0.897	T|T	0.80478|0.80478	-0.1365|-0.1365	5|10	.|0.87932	.|D	.|0	-24.6676|-24.6676	13.2298|13.2298	0.59936|0.59936	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|816;817	.|A8K5H6;Q9UQ84	.|.;EXO1_HUMAN	R|G	181|817	.|ENSP00000355506:V817G;ENSP00000311873:V817G	.|ENSP00000311873:V817G	S|V	+|+	3|2	2|0	EXO1|EXO1	240119434|240119434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.783000|0.783000	0.44284|0.44284	3.005000|3.005000	0.49521|0.49521	2.099000|2.099000	0.63709|0.63709	0.533000|0.533000	0.62120|0.62120	AGT|GTC		0.373	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1		NM_006027		22	65	0	0	0	0.012319	0	22	65		
SCCPDH	51097	broad.mit.edu	37	1	246927628	246927628	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:246927628T>C	ENST00000366510.3	+	10	1447	c.1071T>C	c.(1069-1071)aaT>aaC	p.N357N		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	357						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		ACAAACCAAATATCAAAATTT	0.383																																						uc001ibr.2		NaN																	0				ovary(1)	1						c.(1069-1071)AAT>AAC		saccharopine dehydrogenase (putative)							122.0	117.0	119.0					1																	246927628		2203	4300	6503	SO:0001819	synonymous_variant	51097					midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	g.chr1:246927628T>C		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.1071T>C	1.37:g.246927628T>C							p.N357N	NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)	10	1418	+	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	357					Q8TAR0|Q9Y363	Silent	SNP	ENST00000366510.3	37	c.1071T>C	CCDS31084.1																																																																																				0.383	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2		NM_016002		33	38	0	0	0	0.013726	0	33	38		
SEC61A2	55176	broad.mit.edu	37	10	12197894	12197894	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:12197894A>T	ENST00000298428.9	+	7	669	c.580A>T	c.(580-582)Aag>Tag	p.K194*	SEC61A2_ENST00000379033.3_Nonsense_Mutation_p.K172*|SEC61A2_ENST00000379020.4_Nonsense_Mutation_p.K194*|SEC61A2_ENST00000304267.8_Nonsense_Mutation_p.K194*|SEC61A2_ENST00000495368.1_3'UTR	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	194					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)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CATTGTCTGGAAGGCCTTTAG	0.512																																						uc001ile.2		NaN																	0				ovary(1)	1						c.(580-582)AAG>TAG		Sec61 alpha form 2 isoform a							249.0	214.0	226.0					10																	12197894		2203	4300	6503	SO:0001587	stop_gained	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12197894A>T	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.580A>T	10.37:g.12197894A>T	ENSP00000298428:p.Lys194*					SEC61A2_uc010qbq.1_Nonsense_Mutation_p.K172*|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Nonsense_Mutation_p.K194*	p.K194*	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN			7	727	+		Renal(717;0.228)	194			Lumenal (Potential).		A8K8D0|B4DX72|F8W773	Nonsense_Mutation	SNP	ENST00000298428.9	37	c.580A>T	CCDS7088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	37|37	6.342411|6.342411	0.97489|0.97489	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000419021|ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.38054|.	0.1026|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34502|.	-0.9826|.	3|.	.|0.02654	.|T	.|1	-14.5992|-14.5992	15.5002|15.5002	0.75691|0.75691	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	75|172;194;194;194	.|.	.|ENSP00000298428:K194X	E|K	+|+	2|1	0|0	SEC61A2|SEC61A2	12237900|12237900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.307000|9.307000	0.96226|0.96226	2.302000|2.302000	0.77476|0.77476	0.533000|0.533000	0.62120|0.62120	GAA|AAG		0.512	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1		NM_018144		45	91	0	0	0	0.009718	0	45	91		
HNRNPH3	3189	broad.mit.edu	37	10	70105549	70105549	+	IGR	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:70105549C>T	ENST00000265866.7	+	0	2339				RUFY2_ENST00000265865.3_Silent_p.Q189Q|RUFY2_ENST00000388768.2_Silent_p.Q634Q|RUFY2_ENST00000602465.1_Silent_p.Q599Q	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)						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						ATGAGCATCTCTGAATGAGCA	0.408																																						uc001job.2		NaN																	0				ovary(1)	1						c.(1900-1902)CAG>CAA		RUN and FYVE domain-containing 2 isoform a							166.0	159.0	161.0					10																	70105549		1942	4147	6089	SO:0001628	intergenic_variant	55680					nucleus	metal ion binding	g.chr10:70105549C>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		10.37:g.70105549C>T						RUFY2_uc001jnz.1_RNA|RUFY2_uc001joa.2_Silent_p.Q189Q	p.Q634Q	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			18	2229	-			648					A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Silent	SNP	ENST00000265866.7	37	c.1902G>A	CCDS7278.1																																																																																				0.408	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1				29	78	0	0	0	0.005443	0	29	78		
PSAP	5660	broad.mit.edu	37	10	73574927	73574927	+	IGR	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:73574927G>C	ENST00000394936.3	-	0	2866				CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.E1079D|CDH23_ENST00000224721.6_Missense_Mutation_p.E3324D			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCGCTGCCGAGGCCACTGCCT	0.662																																						uc001jrx.3		NaN																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(9955-9957)GAG>GAC		cadherin-like 23 isoform 1 precursor							19.0	26.0	24.0					10																	73574927		2161	4254	6415	SO:0001628	intergenic_variant	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.chr10:73574927G>C	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73574927G>C						CDH23_uc001jsg.3_Missense_Mutation_p.E1079D|CDH23_uc001jsh.3_Missense_Mutation_p.E1044D|CDH23_uc001jsi.3_Missense_Mutation_p.E1044D|CDH23_uc001jsj.3_Missense_Mutation_p.E216D|CDH23_uc010qjr.1_Missense_Mutation_p.E181D	p.E3319D	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			68	10334	+			3319			Cytoplasmic (Potential).		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.9957G>C	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978114	0.34942	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.78364	-1.17	5.14	-3.53	0.04667	.	0.292577	0.32068	N	0.006639	T	0.59838	0.2223	N	0.02011	-0.69	0.28754	N	0.901266	B;D;B;B	0.61697	0.001;0.99;0.085;0.085	B;D;B;B	0.72982	0.003;0.979;0.026;0.026	T	0.60131	-0.7323	10	0.35671	T	0.21	.	2.8662	0.05602	0.3794:0.3227:0.2053:0.0925	.	181;216;3284;3319	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	D	3324;3284;3322;1079	ENSP00000381768:E1079D	ENSP00000224721:E3324D	E	+	3	2	CDH23	73244933	0.789000	0.28775	0.524000	0.27887	0.723000	0.41478	-0.162000	0.10012	-0.679000	0.05217	0.655000	0.94253	GAG		0.662	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1		NM_002778		4	9	0	0	0	0.009096	0	4	9		
AGAP5	729092	broad.mit.edu	37	10	75457454	75457454	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:75457454T>C	ENST00000374094.4	-	1	100	c.60A>G	c.(58-60)caA>caG	p.Q20Q	RP11-574K11.28_ENST00000580790.1_RNA|AGAP5_ENST00000443782.2_Silent_p.Q20Q|RP11-464F9.1_ENST00000399449.3_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	20					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.Q20Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CCGACCCCTGTTGCTGGTCAA	0.607																																						uc009xri.2		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)CAA>CAG		ArfGAP with GTPase domain, ankyrin repeat and PH							59.0	62.0	61.0					10																	75457454		692	1591	2283	SO:0001819	synonymous_variant	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75457454T>C		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23467	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 2"""	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.60A>G	10.37:g.75457454T>C						AGAP5_uc001juu.3_5'UTR	p.Q20Q	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN			1	101	-			20					A8MSN5	Silent	SNP	ENST00000374094.4	37	c.60A>G	CCDS44439.1																																																																																				0.607	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			XM_001132585		4	62	0	0	0	0.009096	0	4	62		
ZMIZ1	57178	broad.mit.edu	37	10	81049571	81049571	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:81049571G>A	ENST00000334512.5	+	9	1037	c.465G>A	c.(463-465)caG>caA	p.Q155Q	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	155					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTGGCAGCAGAACACCAACC	0.592																																						uc001kaf.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(463-465)CAG>CAA		retinoic acid induced 17							166.0	131.0	143.0					10																	81049571		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81049571G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.465G>A	10.37:g.81049571G>A						ZMIZ1_uc001kag.2_Silent_p.Q31Q|ZMIZ1_uc001kah.1_Silent_p.Q31Q	p.Q155Q	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		9	1037	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		155					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.465G>A	CCDS7357.1																																																																																				0.592	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2		NM_020338		7	42	0	0	0	0.004482	0	7	42		
SNCG	6623	broad.mit.edu	37	10	88719796	88719796	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:88719796G>A	ENST00000372017.3	+	3	244	c.202G>A	c.(202-204)Gag>Aag	p.E68K	SNCG_ENST00000483064.1_3'UTR|SNCG_ENST00000348795.4_Missense_Mutation_p.R85Q|MMRN2_ENST00000372027.5_5'Flank	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	68				E -> K (in Ref. 1; AAB64109). {ECO:0000305}.	adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						CGCCGTGAGCGAGGCTGTGGT	0.677																																						uc001keb.2		NaN																	0					0						c.(202-204)GAG>AAG		synuclein, gamma (breast cancer-specific protein							91.0	73.0	79.0					10																	88719796		2203	4299	6502	SO:0001583	missense	6623					microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding	g.chr10:88719796G>A	AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"""synoretin"""	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.202G>A	10.37:g.88719796G>A	ENSP00000361087:p.Glu68Lys					MMRN2_uc001kea.2_5'Flank|MMRN2_uc010qmn.1_5'Flank|MMRN2_uc009xtb.2_5'Flank	p.E68K	NM_003087	NP_003078	O76070	SYUG_HUMAN			3	369	+			68	E -> K (in Ref. 1; AAB64109).				O15104|Q96P61	Missense_Mutation	SNP	ENST00000372017.3	37	c.202G>A	CCDS7380.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.145809|4.145809	0.77888|0.77888	.|.	.|.	ENSG00000173267|ENSG00000173267	ENST00000372017|ENST00000348795	D|D	0.83506|0.88431	-1.73|-2.38	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.346678|.	0.33650|.	N|.	0.004696|.	D|D	0.92381|0.92381	0.7582|0.7582	M|M	0.64997|0.64997	1.995|1.995	0.45295|0.45295	D|D	0.998297|0.998297	P|.	0.46142|.	0.873|.	B|.	0.41571|.	0.36|.	D|D	0.93167|0.93167	0.6563|0.6563	10|7	0.45353|0.87932	T|D	0.12|0	.|.	17.0709|17.0709	0.86573|0.86573	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	68|.	O76070|.	SYUG_HUMAN|.	K|Q	68|85	ENSP00000361087:E68K|ENSP00000344658:R85Q	ENSP00000361087:E68K|ENSP00000344658:R85Q	E|R	+|+	1|2	0|0	SNCG|SNCG	88709776|88709776	1.000000|1.000000	0.71417|0.71417	0.461000|0.461000	0.27105|0.27105	0.594000|0.594000	0.36715|0.36715	9.211000|9.211000	0.95120|0.95120	2.548000|2.548000	0.85928|0.85928	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.677	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049167.1				5	6	0	0	0	0.014758	0	5	6		
IFIT2	3433	broad.mit.edu	37	10	91061883	91061883	+	Start_Codon_SNP	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:91061883G>A	ENST00000371826.3	+	1	172	c.3G>A	c.(1-3)atG>atA	p.M1I	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	1					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)	p.M1I(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				CTGCAACCATGAGGTAAATAT	0.468																																						uc009xts.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(1-3)ATG>ATA		interferon-induced protein with							130.0	132.0	131.0					10																	91061883		1942	4145	6087	SO:0001582	initiator_codon_variant	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91061883G>A	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.3G>A	10.37:g.91061883G>A	ENSP00000360891:p.Met1Ile					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	p.M1I	NM_001547	NP_001538	P09913	IFIT2_HUMAN			1	178	+		Colorectal(252;0.0161)	1					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.3G>A	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866332	0.51588	.	.	ENSG00000119922	ENST00000371826	T	0.16196	2.36	4.5	3.61	0.41365	.	2.093560	0.03024	U	0.151179	T	0.23451	0.0567	.	.	.	0.80722	D	1	P	0.46987	0.888	P	0.44732	0.459	T	0.13335	-1.0513	9	0.72032	D	0.01	7.0819	8.6176	0.33842	0.102:0.0:0.898:0.0	.	1	P09913	IFIT2_HUMAN	I	1	ENSP00000360891:M1I	ENSP00000360891:M1I	M	+	3	0	IFIT2	91051863	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.571000	0.45990	1.506000	0.48736	0.650000	0.86243	ATG		0.468	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1		NM_001547	Missense_Mutation	14	36	0	0	0	0.016723	0	14	36		
IDE	3416	broad.mit.edu	37	10	94294474	94294474	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:94294474T>C	ENST00000265986.6	-	3	408	c.352A>G	c.(352-354)Aca>Gca	p.T118A		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	118					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TATTTCTTTGTTCCCAAAAAA	0.348																																						uc001kia.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(352-354)ACA>GCA		insulin-degrading enzyme isoform 1 precursor	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						96.0	95.0	95.0					10																	94294474		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94294474T>C	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.352A>G	10.37:g.94294474T>C	ENSP00000265986:p.Thr118Ala						p.T118A	NM_004969	NP_004960	P14735	IDE_HUMAN			3	428	-			118					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.352A>G	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.783298	0.90282	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T;T	0.36878	1.23;1.23	5.93	5.93	0.95920	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80405	-0.1396	10	0.87932	D	0	-13.0719	16.3766	0.83401	0.0:0.0:0.0:1.0	.	118	P14735	IDE_HUMAN	A	118;104	ENSP00000265986:T118A;ENSP00000408850:T104A	ENSP00000265986:T118A	T	-	1	0	IDE	94284454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.015000	0.88690	2.263000	0.75096	0.533000	0.62120	ACA		0.348	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1		NM_004969		18	40	0	0	0	0.00499	0	18	40		
CYP2C9	1559	broad.mit.edu	37	10	96707616	96707616	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:96707616G>C	ENST00000260682.6	+	4	574	c.562G>C	c.(562-564)Gat>Cat	p.D188H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	188					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TAAACGTTTTGATTATAAAGA	0.383																																					Ovarian(54;1266 1406 16072 35076)	uc001kka.3		NaN																	0				skin(4)|ovary(2)	6						c.(562-564)GAT>CAT		cytochrome P450, family 2, subfamily C,	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						115.0	114.0	115.0					10																	96707616		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96707616G>C	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.562G>C	10.37:g.96707616G>C	ENSP00000260682:p.Asp188His					CYP2C9_uc009xut.2_Missense_Mutation_p.D188H	p.D188H	NM_000771	NP_000762	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	4	587	+		Colorectal(252;0.0902)	188					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.562G>C	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	12.48	1.950661	0.34377	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.14266	2.52	3.55	3.55	0.40652	.	0.432868	0.21637	U	0.071390	T	0.21801	0.0525	M	0.77616	2.38	0.31813	N	0.626944	B;B	0.25743	0.133;0.133	B;B	0.31869	0.137;0.137	T	0.20974	-1.0259	10	0.62326	D	0.03	.	12.9549	0.58421	0.0:0.0:1.0:0.0	.	188;188	Q5VX92;P11712	.;CP2C9_HUMAN	H	188	ENSP00000260682:D188H	ENSP00000260682:D188H	D	+	1	0	CYP2C9	96697606	1.000000	0.71417	0.961000	0.40146	0.909000	0.53808	2.821000	0.48065	1.955000	0.56771	0.491000	0.48974	GAT		0.383	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1		NM_000771		28	54	0	0	0	0.005443	0	28	54		
TM9SF3	56889	broad.mit.edu	37	10	98307747	98307747	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:98307747C>T	ENST00000371142.4	-	8	1176		c.e8-1		TM9SF3_ENST00000490192.1_Splice_Site	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3							integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGATCCCCTCCTAAAAAGGCA	0.318																																						uc001kmm.3		NaN																	0					0						c.e8-1		transmembrane 9 superfamily member 3 precursor							87.0	85.0	86.0					10																	98307747		2203	4300	6503	SO:0001630	splice_region_variant	56889					integral to membrane	binding	g.chr10:98307747C>T	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.960-1G>A	10.37:g.98307747C>T						TM9SF3_uc010qot.1_Splice_Site_p.E320_splice|TM9SF3_uc001kmn.1_Splice_Site_p.E89_splice	p.E320_splice	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	8	1177	-		Colorectal(252;0.158)						Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Splice_Site	SNP	ENST00000371142.4	37	c.960_splice	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275974	0.80580	.	.	ENSG00000077147	ENST00000371142	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0919	0.93229	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TM9SF3	98297737	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.720000	0.84759	2.826000	0.97356	0.655000	0.94253	.		0.318	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2		NM_020123	Intron	34	42	0	0	0	0.012213	0	34	42		
TM9SF3	56889	broad.mit.edu	37	10	98312731	98312731	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:98312731C>T	ENST00000371142.4	-	6	962	c.746G>A	c.(745-747)aGa>aAa	p.R249K	TM9SF3_ENST00000490192.1_5'Flank	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	249						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		ATAATCTTTTCTTAATGTTCT	0.299																																						uc001kmm.3		NaN																	0					0						c.(745-747)AGA>AAA		transmembrane 9 superfamily member 3 precursor							108.0	103.0	105.0					10																	98312731		2203	4298	6501	SO:0001583	missense	56889					integral to membrane	binding	g.chr10:98312731C>T	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.746G>A	10.37:g.98312731C>T	ENSP00000360184:p.Arg249Lys					TM9SF3_uc010qot.1_Missense_Mutation_p.R249K|TM9SF3_uc001kmn.1_Missense_Mutation_p.R18K	p.R249K	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	6	963	-		Colorectal(252;0.158)	249					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Missense_Mutation	SNP	ENST00000371142.4	37	c.746G>A	CCDS7450.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354845	0.61293	.	.	ENSG00000077147	ENST00000371142;ENST00000443638	T;T	0.41065	1.01;1.01	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	L	0.56769	1.78	0.80722	D	1	P;D	0.89917	0.655;1.0	P;D	0.91635	0.534;0.999	T	0.52313	-0.8592	10	0.17369	T	0.5	-15.697	17.9926	0.89172	0.0:1.0:0.0:0.0	.	181;249	Q8WUB5;Q9HD45	.;TM9S3_HUMAN	K	249;205	ENSP00000360184:R249K;ENSP00000401152:R205K	ENSP00000360184:R249K	R	-	2	0	TM9SF3	98302721	1.000000	0.71417	0.999000	0.59377	0.831000	0.47069	7.783000	0.85696	2.487000	0.83934	0.585000	0.79938	AGA		0.299	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2		NM_020123		13	26	0	0	0	0.016723	0	13	26		
PITX3	5309	broad.mit.edu	37	10	103990676	103990676	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:103990676C>T	ENST00000370002.3	-	4	657	c.504G>A	c.(502-504)aaG>aaA	p.K168K	PITX3_ENST00000539804.1_Silent_p.K168K	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	168					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		ATGGAAAGGTCTTGGCGGCGA	0.697																																						uc001kuu.1		NaN																	0					0						c.(502-504)AAG>AAA		paired-like homeodomain 3							15.0	18.0	17.0					10																	103990676		2188	4271	6459	SO:0001819	synonymous_variant	5309				dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:103990676C>T		CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"""Homeoboxes / PRD class"""	9006	protein-coding gene	gene with protein product		602669	"""paired-like homeodomain transcription factor 3"", ""anterior segment mesenchymal dysgenesis"""	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.504G>A	10.37:g.103990676C>T							p.K168K	NM_005029	NP_005020	O75364	PITX3_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	658	-		Colorectal(252;0.00957)	168					Q5VZL2	Silent	SNP	ENST00000370002.3	37	c.504G>A	CCDS7532.1																																																																																				0.697	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050031.1				4	6	0	0	0	0.001168	0	4	6		
GBF1	8729	broad.mit.edu	37	10	104121532	104121532	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:104121532G>A	ENST00000369983.3	+	14	1806	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	516					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GATGCCTTATGAGATGAAGGA	0.468																																						uc001kux.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1546-1548)GAG>AAG		golgi-specific brefeldin A resistant guanine							136.0	120.0	125.0					10																	104121532		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104121532G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1546G>A	10.37:g.104121532G>A	ENSP00000359000:p.Glu516Lys					GBF1_uc001kuy.1_Missense_Mutation_p.E516K|GBF1_uc001kuz.1_Missense_Mutation_p.E517K	p.E516K	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	14	1786	+		Colorectal(252;0.0236)	516					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1546G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	36	5.953984	0.97139	.	.	ENSG00000107862	ENST00000369983	T	0.44083	0.93	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71099	0.3300	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.995;0.992	T	0.70321	-0.4904	10	0.49607	T	0.09	-20.0851	20.8794	0.99867	0.0:0.0:1.0:0.0	.	516;516;516	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	K	516	ENSP00000359000:E516K	ENSP00000359000:E516K	E	+	1	0	GBF1	104111522	1.000000	0.71417	0.980000	0.43619	0.961000	0.63080	9.832000	0.99423	2.941000	0.99782	0.655000	0.94253	GAG		0.468	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1				26	45	0	0	0	0.003954	0	26	45		
OBFC1	79991	broad.mit.edu	37	10	105657330	105657330	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:105657330C>T	ENST00000224950.3	-	7	896	c.729G>A	c.(727-729)gtG>gtA	p.V243V	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Silent_p.V243V	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	243	Winged helix-turn-helix (wHTH) 1.				positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		CACTGTGAATCACAGGCTGAT	0.517																																						uc001kxl.2		NaN																	0				ovary(1)	1						c.(727-729)GTG>GTA		oligonucleotide/oligosaccharide-binding fold							124.0	99.0	108.0					10																	105657330		2203	4300	6503	SO:0001819	synonymous_variant	79991				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	g.chr10:105657330C>T	BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.729G>A	10.37:g.105657330C>T						OBFC1_uc001kxm.2_Silent_p.V243V|OBFC1_uc001kxn.2_RNA	p.V243V	NM_024928	NP_079204	Q9H668	STN1_HUMAN		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)	6	804	-		Colorectal(252;0.178)	243					D3DR99|Q5TCZ0	Silent	SNP	ENST00000224950.3	37	c.729G>A	CCDS7552.1																																																																																				0.517	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050174.1		NM_024928		19	34	0	0	0	0.010504	0	19	34		
SLK	9748	broad.mit.edu	37	10	105785423	105785423	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:105785423A>G	ENST00000369755.3	+	19	4198	c.3653A>G	c.(3652-3654)cAg>cGg	p.Q1218R	SLK_ENST00000335753.4_Missense_Mutation_p.Q1187R	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1218					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCATCAACACAGAGCCGGATT	0.433																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1		NaN																	0				ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(3652-3654)CAG>CGG		serine/threonine kinase 2							87.0	77.0	80.0					10																	105785423		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105785423A>G		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3653A>G	10.37:g.105785423A>G	ENSP00000358770:p.Gln1218Arg					SLK_uc001kxp.1_Missense_Mutation_p.Q1187R	p.Q1218R	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	19	3687	+		Colorectal(252;0.178)	1218					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.3653A>G	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495605	0.64186	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.69926	-0.44;-0.44	5.53	5.53	0.82687	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	L	0.47716	1.5	0.58432	D	0.999998	D;D	0.69078	0.997;0.995	D;D	0.79784	0.993;0.985	T	0.78607	-0.2138	10	0.59425	D	0.04	.	15.6604	0.77182	1.0:0.0:0.0:0.0	.	1187;1218	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	R	1187;1218	ENSP00000336824:Q1187R;ENSP00000358770:Q1218R	ENSP00000336824:Q1187R	Q	+	2	0	SLK	105775413	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.306000	0.78905	2.107000	0.64212	0.459000	0.35465	CAG		0.433	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1		NM_014720		32	26	0	0	0	0.008361	0	32	26		
TACC2	10579	broad.mit.edu	37	10	123846947	123846947	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:123846947T>C	ENST00000369005.1	+	4	5272	c.4932T>C	c.(4930-4932)ccT>ccC	p.P1644P	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.P1644P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.P1644P|TACC2_ENST00000515273.1_Silent_p.P1644P|TACC2_ENST00000453444.2_Silent_p.P1644P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1644					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGACTGTGCCTGAGGCCAACA	0.592																																						uc001lfv.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(4930-4932)CCT>CCC		transforming, acidic coiled-coil containing							64.0	59.0	61.0					10																	123846947		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123846947T>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4932T>C	10.37:g.123846947T>C						TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.P1644P|TACC2_uc010qtv.1_Silent_p.P1644P	p.P1644P	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	5292	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1644					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.4932T>C	CCDS7626.1																																																																																				0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				15	19	0	0	0	0.003163	0	15	19		
DMBT1	1755	broad.mit.edu	37	10	124399947	124399947	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr10:124399947A>T	ENST00000338354.3	+	52	7053	c.6947A>T	c.(6946-6948)tAt>tTt	p.Y2316F	DMBT1_ENST00000368909.3_Missense_Mutation_p.Y2316F|DMBT1_ENST00000330163.4_Missense_Mutation_p.Y1688F|DMBT1_ENST00000359586.6_Missense_Mutation_p.Y1036F|DMBT1_ENST00000344338.3_Missense_Mutation_p.Y2306F|DMBT1_ENST00000368956.2_Missense_Mutation_p.Y1688F|DMBT1_ENST00000368955.3_Missense_Mutation_p.Y2306F			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2316	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTTTGACTTATGATCTAATC	0.448																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NaN																	0				central_nervous_system(7)	7						c.(6946-6948)TAT>TTT		deleted in malignant brain tumors 1 isoform b							60.0	58.0	59.0					10																	124399947		2035	4196	6231	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124399947A>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6947A>T	10.37:g.124399947A>T	ENSP00000342210:p.Tyr2316Phe					DMBT1_uc001lgl.1_Missense_Mutation_p.Y2306F|DMBT1_uc001lgm.1_Missense_Mutation_p.Y1688F|DMBT1_uc009xzz.1_Missense_Mutation_p.Y2315F|DMBT1_uc010qtx.1_Missense_Mutation_p.Y1036F|DMBT1_uc009yab.1_Missense_Mutation_p.Y1019F|DMBT1_uc009yac.1_Missense_Mutation_p.Y610F	p.Y2316F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			52	7053	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2316			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6947A>T		.	.	.	.	.	.	.	.	.	.	A	16.04	3.009301	0.54361	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.63	5.63	0.86233	Endoglin/CD105 antigen conserved site (1);Zona pellucida sperm-binding protein (3);	0.000000	0.35838	U	0.002944	D	0.91875	0.7428	M	0.85373	2.75	0.45621	D	0.998558	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.998;0.997;0.997;0.997;0.997;0.998	D	0.93132	0.6534	10	0.87932	D	0	.	15.87	0.79108	1.0:0.0:0.0:0.0	.	1036;2296;1565;2445;1688;2306;2316	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	F	2316;2445;2316;2316;2316;2315;1688;2306;1688;1688;2316;2306;1688;462;1036	ENSP00000342210:Y2316F;ENSP00000343175:Y2306F;ENSP00000327747:Y1688F;ENSP00000357905:Y2316F;ENSP00000357951:Y2306F;ENSP00000357952:Y1688F;ENSP00000352593:Y1036F	ENSP00000331522:Y1688F	Y	+	2	0	DMBT1	124389937	1.000000	0.71417	0.224000	0.23877	0.063000	0.16089	7.620000	0.83070	2.145000	0.66743	0.533000	0.62120	TAT		0.448	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2		NM_004406		7	15	0	0	0	0.00308	0	7	15		
PHRF1	57661	broad.mit.edu	37	11	608824	608824	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:608824G>A	ENST00000264555.5	+	14	3496	c.3368G>A	c.(3367-3369)tGc>tAc	p.C1123Y	PHRF1_ENST00000416188.2_Missense_Mutation_p.C1122Y|PHRF1_ENST00000413872.2_Missense_Mutation_p.C1121Y|PHRF1_ENST00000533464.1_Missense_Mutation_p.C1119Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1123	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGAAGGGAGTGCTCCCCCACC	0.632																																						uc001lqe.2		NaN																	0					0						c.(3367-3369)TGC>TAC		PHD and ring finger domains 1							24.0	29.0	28.0					11																	608824		2199	4295	6494	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608824G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3368G>A	11.37:g.608824G>A	ENSP00000264555:p.Cys1123Tyr					PHRF1_uc010qwc.1_Missense_Mutation_p.C1122Y|PHRF1_uc010qwd.1_Missense_Mutation_p.C1121Y|PHRF1_uc010qwe.1_Missense_Mutation_p.C1119Y|PHRF1_uc009ybz.1_Missense_Mutation_p.C913Y|PHRF1_uc009yca.1_RNA	p.C1123Y	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	3499	+			1123			Arg-rich.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.3368G>A		.	.	.	.	.	.	.	.	.	.	G	0.026	-1.372280	0.01214	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	4.34	3.38	0.38709	.	0.562730	0.15021	N	0.284979	T	0.23014	0.0556	N	0.24115	0.695	0.19300	N	0.99998	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.08055	0.001;0.003;0.003;0.001	T	0.26985	-1.0087	10	0.02654	T	1	-5.5733	8.4665	0.32960	0.2061:0.0:0.7939:0.0	.	1119;1121;1122;1123	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Y	1123;1121;1122;1119	ENSP00000264555:C1123Y;ENSP00000388589:C1121Y;ENSP00000410626:C1122Y;ENSP00000431870:C1119Y	ENSP00000264555:C1123Y	C	+	2	0	PHRF1	598824	1.000000	0.71417	0.036000	0.18154	0.234000	0.25298	3.652000	0.54439	0.952000	0.37798	0.561000	0.74099	TGC		0.632	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1		NM_020901		4	29	0	0	0	0.009096	0	4	29		
DCHS1	8642	broad.mit.edu	37	11	6643027	6643027	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:6643027T>C	ENST00000299441.3	-	21	10291	c.9880A>G	c.(9880-9882)Acg>Gcg	p.T3294A	TPP1_ENST00000533371.1_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000534644.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000528657.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3294					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGCTCCGTGTCATCAGGT	0.667																																						uc001mem.1		NaN																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(9880-9882)ACG>GCG		dachsous 1 precursor							19.0	19.0	19.0					11																	6643027		2194	4287	6481	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643027T>C	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9880A>G	11.37:g.6643027T>C	ENSP00000299441:p.Thr3294Ala					TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank	p.T3294A	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	10290	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	3294			Cytoplasmic (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.9880A>G	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801200	0.31869	.	.	ENSG00000166341	ENST00000299441	T	0.50001	0.76	4.86	3.71	0.42584	.	0.160911	0.29260	N	0.012672	T	0.16599	0.0399	N	0.01742	-0.745	0.31374	N	0.679808	B	0.02656	0.0	B	0.04013	0.001	T	0.11227	-1.0596	10	0.18276	T	0.48	.	4.0959	0.09990	0.0:0.2592:0.0:0.7408	.	3294	Q96JQ0	PCD16_HUMAN	A	3294	ENSP00000299441:T3294A	ENSP00000299441:T3294A	T	-	1	0	DCHS1	6599603	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.897000	0.48664	2.035000	0.60131	0.379000	0.24179	ACG		0.667	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1		NM_003737		9	11	0	0	0	0.006214	0	9	11		
DENND5A	23258	broad.mit.edu	37	11	9167352	9167352	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:9167352G>A	ENST00000328194.3	-	17	3188	c.2868C>T	c.(2866-2868)taC>taT	p.Y956Y	DENND5A_ENST00000530044.1_Silent_p.Y956Y|DENND5A_ENST00000527700.1_Silent_p.Y299Y	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	956	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCAGAATGTGGTACGGGATCA	0.498																																						uc001mhl.2		NaN																	0				liver(1)	1						c.(2866-2868)TAC>TAT		RAB6 interacting protein 1							245.0	242.0	243.0					11																	9167352		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9167352G>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2868C>T	11.37:g.9167352G>A						DENND5A_uc001mhk.2_Silent_p.Y299Y|DENND5A_uc010rbw.1_Silent_p.Y956Y|DENND5A_uc010rbx.1_RNA	p.Y956Y	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN			17	3123	-			956			PLAT.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.2868C>T	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.84|13.84	2.357301|2.357301	0.41801|0.41801	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000524446|ENST00000525784	.|.	.|.	.|.	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|.	.|.	.|.	.|.	T|T	0.70859|0.70859	0.3272|0.3272	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68591|0.68591	-0.5368|-0.5368	4|4	.|.	.|.	.|.	.|.	14.3272|14.3272	0.66528|0.66528	0.0705:0.0:0.9295:0.0|0.0705:0.0:0.9295:0.0	.|.	.|.	.|.	.|.	S|I	127|4	.|.	.|.	P|T	-|-	1|2	0|0	DENND5A|DENND5A	9123928|9123928	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.905000|2.905000	0.48727|0.48727	2.773000|2.773000	0.95371|0.95371	0.650000|0.650000	0.86243|0.86243	CCA|ACC		0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2		NM_015213		179	234	0	0	0	0.01441	0	179	234		
BTBD10	84280	broad.mit.edu	37	11	13410595	13410595	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:13410595G>T	ENST00000278174.5	-	9	1456	c.1211C>A	c.(1210-1212)tCc>tAc	p.S404Y	BTBD10_ENST00000530907.1_Missense_Mutation_p.S412Y|BTBD10_ENST00000528120.1_Missense_Mutation_p.S356Y	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	404	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CTTCTCCCAGGACATTCGAAT	0.448																																						uc001mkz.2		NaN																	0					0						c.(1210-1212)TCC>TAC		K+ channel tetramerization protein							120.0	119.0	119.0					11																	13410595		2200	4294	6494	SO:0001583	missense	84280					nucleus		g.chr11:13410595G>T	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.1211C>A	11.37:g.13410595G>T	ENSP00000278174:p.Ser404Tyr					BTBD10_uc010rcl.1_Missense_Mutation_p.S412Y|BTBD10_uc001mla.2_Missense_Mutation_p.S388Y|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.S356Y	p.S404Y	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	9	1468	-			404					B7Z228|Q86WG1	Missense_Mutation	SNP	ENST00000278174.5	37	c.1211C>A	CCDS7811.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497966	0.85069	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	D;D;D	0.84660	-1.88;-1.88;-1.88	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.91938	0.7447	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.92661	0.6141	10	0.87932	D	0	-13.066	18.1526	0.89679	0.0:0.0:1.0:0.0	.	412;404;404	B7Z228;D3DQW7;Q9BSF8	.;.;BTBDA_HUMAN	Y	404;412;356	ENSP00000278174:S404Y;ENSP00000431186:S412Y;ENSP00000435257:S356Y	ENSP00000278174:S404Y	S	-	2	0	BTBD10	13367171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.607000	0.88179	0.555000	0.69702	TCC		0.448	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1		NM_032320		43	105	1	0	1.7489e-18	0.011902	1.87704e-18	43	105		
TPH1	7166	broad.mit.edu	37	11	18048081	18048081	+	Silent	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:18048081A>C	ENST00000250018.2	-	6	1321	c.759T>G	c.(757-759)acT>acG	p.T253T	TPH1_ENST00000341556.2_Silent_p.T253T	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	253					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCACATATTGAGTGCAGTGAA	0.413																																						uc001mnp.2		NaN																	0					0						c.(757-759)ACT>ACG		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						96.0	97.0	97.0					11																	18048081		2200	4293	6493	SO:0001819	synonymous_variant	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18048081A>C	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.759T>G	11.37:g.18048081A>C						TPH1_uc009yhe.2_RNA	p.T253T	NM_004179	NP_004170	P17752	TPH1_HUMAN			6	785	-			253					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Silent	SNP	ENST00000250018.2	37	c.759T>G	CCDS7829.1																																																																																				0.413	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1		NM_004179		43	50	0	0	0	0.009718	0	43	50		
OR8J1	219477	broad.mit.edu	37	11	56127857	56127857	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:56127857C>T	ENST00000303039.3	+	1	167	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACCTGGGCATCATCACCCTCA	0.498																																						uc010rjh.1		NaN																	0				ovary(2)	2						c.(133-135)ATC>ATT		olfactory receptor, family 8, subfamily J,							158.0	143.0	148.0					11																	56127857		2201	4296	6497	SO:0001819	synonymous_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127857C>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.135C>T	11.37:g.56127857C>T							p.I45I	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	135	+	Esophageal squamous(21;0.00448)		45			Helical; Name=1; (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Silent	SNP	ENST00000303039.3	37	c.135C>T	CCDS31529.1																																																																																				0.498	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2		NM_001005205		58	81	0	0	0	0.01441	0	58	81		
OR9Q1	219956	broad.mit.edu	37	11	57947216	57947216	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:57947216G>A	ENST00000335397.3	+	3	616	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	100						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)				GTGCTGCTCAGTTCTTTCTGT	0.532																																						uc001nmj.2		NaN																	0				ovary(1)	1						c.(298-300)CAG>CAA		olfactory receptor, family 9, subfamily Q,							143.0	114.0	124.0					11																	57947216		2201	4296	6497	SO:0001819	synonymous_variant	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947216G>A	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.300G>A	11.37:g.57947216G>A							p.Q100Q	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	616	+		Breast(21;0.222)	100			Helical; Name=3; (Potential).		Q2TAN3|Q96RA7	Silent	SNP	ENST00000335397.3	37	c.300G>A	CCDS31543.1																																																																																				0.532	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2		NM_001005212		53	79	0	0	0	0.01441	0	53	79		
MS4A6E	245802	broad.mit.edu	37	11	60105401	60105401	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:60105401G>A	ENST00000300182.4	+	2	400	c.335G>A	c.(334-336)aGa>aAa	p.R112K		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	112						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						GACTGCCATAGAGCCAAAGCC	0.373																																						uc001npd.2		NaN																	0					0						c.(334-336)AGA>AAA		membrane-spanning 4-domains, subfamily A, member							85.0	84.0	84.0					11																	60105401		2203	4300	6503	SO:0001583	missense	245802					integral to membrane	receptor activity	g.chr11:60105401G>A	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.335G>A	11.37:g.60105401G>A	ENSP00000300182:p.Arg112Lys						p.R112K	NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN			2	349	+			112			Extracellular (Potential).		Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	ENST00000300182.4	37	c.335G>A	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.945461	0.00003	.	.	ENSG00000166926	ENST00000300182	T	0.02140	4.43	1.89	-3.77	0.04346	.	1.823310	0.03219	N	0.177285	T	0.00936	0.0031	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47724	-0.9095	10	0.42905	T	0.14	.	0.2289	0.00177	0.331:0.2649:0.1681:0.2361	.	112	Q96DS6	M4A6E_HUMAN	K	112	ENSP00000300182:R112K	ENSP00000300182:R112K	R	+	2	0	MS4A6E	59861977	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.413000	0.00238	-4.546000	0.00043	-3.576000	0.00029	AGA		0.373	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1				36	56	0	0	0	0.013726	0	36	56		
AHNAK	79026	broad.mit.edu	37	11	62301534	62301534	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:62301534C>A	ENST00000378024.4	-	5	629	c.355G>T	c.(355-357)Gag>Tag	p.E119*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	119					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGTACTCCTCATCATCCCCG	0.602																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(355-357)GAG>TAG		AHNAK nucleoprotein isoform 1							53.0	45.0	47.0					11																	62301534		2202	4299	6501	SO:0001587	stop_gained	79026				nervous system development	nucleus	protein binding	g.chr11:62301534C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.355G>T	11.37:g.62301534C>A	ENSP00000367263:p.Glu119*					AHNAK_uc001ntk.1_Intron	p.E119*	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	655	-		Melanoma(852;0.155)	119					A1A586	Nonsense_Mutation	SNP	ENST00000378024.4	37	c.355G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	35	5.540105	0.96474	.	.	ENSG00000124942	ENST00000378024;ENST00000533743;ENST00000530285;ENST00000528508	.	.	.	5.85	5.85	0.93711	.	0.000000	0.37857	U	0.001911	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-18.2913	19.7911	0.96458	0.0:1.0:0.0:0.0	.	.	.	.	X	119;43;119;119	.	ENSP00000367263:E119X	E	-	1	0	AHNAK	62058110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.410000	0.66381	2.782000	0.95742	0.655000	0.94253	GAG		0.602	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		11	22	1	0	3.86212e-05	0.008291	3.96452e-05	11	22		
TAF6L	10629	broad.mit.edu	37	11	62553845	62553845	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:62553845C>T	ENST00000294168.3	+	10	1275	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	RP11-727F15.12_ENST00000601484.1_RNA|TMEM179B_ENST00000333449.4_5'Flank|TMEM179B_ENST00000533861.1_5'Flank|TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	358					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GACACAAAGTCTATGGAGCCA	0.512											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001nvc.2		NaN																	0				ovary(3)	3						c.(1072-1074)GTC>GTT		TAF6-like RNA polymerase II							156.0	143.0	148.0					11																	62553845		2201	4299	6500	SO:0001819	synonymous_variant	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62553845C>T	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1074C>T	11.37:g.62553845C>T			OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1062	TMEM179B_uc001nvd.3_5'Flank	p.V358V	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN			10	1175	+			358					B2RAT0|Q96HA6	Silent	SNP	ENST00000294168.3	37	c.1074C>T	CCDS8035.1																																																																																				0.512	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1		NM_006473		27	123	0	0	0	0.005443	0	27	123		
MRPL48	51642	broad.mit.edu	37	11	73498985	73498985	+	5'UTR	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:73498985T>A	ENST00000310614.7	+	0	625				MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000542303.1_5'UTR|MRPL48_ENST00000535529.1_5'UTR|MRPL48_ENST00000411840.2_5'UTR	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48							mitochondrial ribosome (GO:0005761)				kidney(1)	1						GGTCTTCGGTTTGCACAGCTA	0.612																																						uc001ouh.3		NaN																	0					0						c.(-33--29)GTTTG>GTATG		mitochondrial ribosomal protein L48 precursor							26.0	28.0	28.0					11																	73498985		1944	4129	6073	SO:0001623	5_prime_UTR_variant	51642				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr11:73498985T>A	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"""Mitochondrial ribosomal proteins / large subunits"""	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.-32T>A	11.37:g.73498985T>A						MRPL48_uc009ytt.2_Translation_Start_Site|MRPL48_uc010rri.1_Translation_Start_Site|MRPL48_uc009ytu.2_Translation_Start_Site		NM_016055	NP_057139	Q96GC5	RM48_HUMAN			1	69	+								B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Translation_Start_Site	SNP	ENST00000310614.7	37	c.-31T>A	CCDS44676.1																																																																																				0.612	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1		NM_016055		13	16	0	0	0	0.016723	0	13	16		
DNAJB13	374407	broad.mit.edu	37	11	73681096	73681096	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:73681096C>T	ENST00000339764.1	+	8	1639	c.888C>T	c.(886-888)atC>atT	p.I296I	DNAJB13_ENST00000543947.1_Silent_p.I121I|DNAJB13_ENST00000537753.1_Silent_p.I121I|RP11-167N4.2_ENST00000537019.1_RNA	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	296					protein folding (GO:0006457)					large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					TCTTCGACATCCAGTTCCCCA	0.577																																						uc001ouo.2		NaN																	0					0						c.(886-888)ATC>ATT		testis spermatogenesis apoptosis-related protein							148.0	131.0	137.0					11																	73681096		2200	4293	6493	SO:0001819	synonymous_variant	374407				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding	g.chr11:73681096C>T	AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"""Heat shock proteins / DNAJ (HSP40)"""	30718	protein-coding gene	gene with protein product	"""radial spoke 16 homolog A (Chlamydomonas)"""	610263	"""DnaJ (Hsp40) related, subfamily B, member 13"""				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.888C>T	11.37:g.73681096C>T							p.I296I	NM_153614	NP_705842	P59910	DJB13_HUMAN			8	1639	+	Breast(11;7.42e-05)		296					B3LEP4|Q8IZW5	Silent	SNP	ENST00000339764.1	37	c.888C>T	CCDS8227.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069063	0.55539	.	.	ENSG00000187726	ENST00000542350	.	.	.	5.54	4.63	0.57726	.	.	.	.	.	T	0.62756	0.2454	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61013	-0.7148	4	.	.	.	.	11.3982	0.49854	0.0:0.9154:0.0:0.0846	.	.	.	.	S	197	.	.	P	+	1	0	DNAJB13	73358744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.471000	0.45127	1.345000	0.45676	0.644000	0.83932	CCA		0.577	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398100.1		NM_153614		29	150	0	0	0	0.007291	0	29	150		
POLD3	10714	broad.mit.edu	37	11	74323962	74323962	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:74323962T>C	ENST00000263681.2	+	5	428	c.299T>C	c.(298-300)gTg>gCg	p.V100A	POLD3_ENST00000532497.1_5'UTR|POLD3_ENST00000527458.1_Missense_Mutation_p.V61A	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	100					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					AGCATCCATGTGTACAGCATC	0.453																																						uc001ovf.1		NaN																	0				kidney(2)|ovary(1)	3						c.(298-300)GTG>GCG		DNA-directed DNA polymerase delta 3							152.0	126.0	135.0					11																	74323962		2200	4293	6493	SO:0001583	missense	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74323962T>C	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.299T>C	11.37:g.74323962T>C	ENSP00000263681:p.Val100Ala					POLD3_uc009yua.1_5'UTR	p.V100A	NM_006591	NP_006582	Q15054	DPOD3_HUMAN			5	374	+	Breast(11;3.21e-06)		100					B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	ENST00000263681.2	37	c.299T>C	CCDS8233.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779913	0.70222	.	.	ENSG00000077514	ENST00000528481;ENST00000263681;ENST00000527458;ENST00000538052;ENST00000530511;ENST00000531615	.	.	.	5.68	4.53	0.55603	.	0.064361	0.64402	D	0.000008	T	0.77968	0.4210	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79259	-0.1877	9	0.87932	D	0	-28.1589	10.1783	0.42952	0.1493:0.0:0.0:0.8507	.	100	Q15054	DPOD3_HUMAN	A	61;100;61;100;61;61	.	ENSP00000263681:V100A	V	+	2	0	POLD3	74001610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.368000	0.79567	0.938000	0.37419	0.455000	0.32223	GTG		0.453	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1		NM_006591		60	74	0	0	0	0.01441	0	60	74		
TRPC6	7225	broad.mit.edu	37	11	101359784	101359784	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:101359784C>G	ENST00000344327.3	-	4	1601	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	TRPC6_ENST00000360497.4_Intron|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.E393Q	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	393					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GAAAGATTCTCATACCAAATG	0.433																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1177-1179)GAG>CAG		transient receptor potential cation channel,							95.0	85.0	89.0					11																	101359784		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101359784C>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1177G>C	11.37:g.101359784C>G	ENSP00000340913:p.Glu393Gln					TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Intron	p.E393Q	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	4	1602	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	393			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1177G>C	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027846	0.93518	.	.	ENSG00000137672	ENST00000344327;ENST00000532133	T;T	0.63913	-0.07;-0.07	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.81536	0.4843	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81940	-0.0703	10	0.56958	D	0.05	-7.7473	19.9928	0.97374	0.0:1.0:0.0:0.0	.	393	Q9Y210	TRPC6_HUMAN	Q	393	ENSP00000340913:E393Q;ENSP00000435574:E393Q	ENSP00000340913:E393Q	E	-	1	0	TRPC6	100864994	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.763000	0.85283	2.745000	0.94114	0.650000	0.86243	GAG		0.433	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1		NM_004621		25	40	0	0	0	0.003954	0	25	40		
PPP2R1B	5519	broad.mit.edu	37	11	111636068	111636068	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:111636068A>G	ENST00000527614.1	-	2	220	c.155T>C	c.(154-156)cTa>cCa	p.L52P	PPP2R1B_ENST00000341980.6_Missense_Mutation_p.L52P|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.L52P|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.L52P	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	52					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCCAAGTGCTAGGGCAATTGT	0.363																																						uc001plx.1		NaN																	0					0						c.(154-156)CTA>CCA		beta isoform of regulatory subunit A, protein							121.0	120.0	120.0					11																	111636068		2201	4297	6498	SO:0001583	missense	5519						protein binding	g.chr11:111636068A>G	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.155T>C	11.37:g.111636068A>G	ENSP00000437193:p.Leu52Pro					PPP2R1B_uc001plw.1_Missense_Mutation_p.L52P|PPP2R1B_uc010rwi.1_Intron|PPP2R1B_uc010rwj.1_5'UTR|PPP2R1B_uc010rwk.1_Missense_Mutation_p.L52P|PPP2R1B_uc010rwl.1_Missense_Mutation_p.L52P	p.L52P	NM_002716	NP_002707	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	2	239	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	52			HEAT 1.		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.155T>C	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.588269	0.46110	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000527614;ENST00000341980;ENST00000393055;ENST00000531373	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.62258	0.2413	H	0.94582	3.555	0.80722	D	1	D;P;B;P	0.64830	0.994;0.702;0.076;0.489	P;P;B;B	0.58331	0.837;0.73;0.075;0.152	T	0.73911	-0.3833	10	0.72032	D	0.01	-6.8392	14.1438	0.65336	1.0:0.0:0.0:0.0	.	52;52;52;52	A8MY67;F8W8G1;P30154;P30154-2	.;.;2AAB_HUMAN;.	P	52;52;52;52;52;37	ENSP00000311344:L52P;ENSP00000437193:L52P;ENSP00000343317:L52P;ENSP00000376775:L52P;ENSP00000434705:L37P	ENSP00000311344:L52P	L	-	2	0	PPP2R1B	111141278	0.999000	0.42202	0.998000	0.56505	0.148000	0.21650	8.715000	0.91416	2.216000	0.71823	0.533000	0.62120	CTA		0.363	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1		NM_002716		48	92	0	0	0	0.01441	0	48	92		
FDXACB1	91893	broad.mit.edu	37	11	111749797	111749797	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:111749797C>T	ENST00000260257.4	-	1	107	c.60G>A	c.(58-60)ctG>ctA	p.L20L	C11orf1_ENST00000528125.1_Intron|C11orf1_ENST00000529270.1_5'Flank|C11orf1_ENST00000530214.1_5'Flank|ALG9_ENST00000527377.1_5'Flank|ALG9_ENST00000524880.1_Silent_p.L20L|C11orf1_ENST00000260276.3_5'Flank|FDXACB1_ENST00000542429.1_5'UTR	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	20					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GGGTTTCGCTCAGAGCGGCGG	0.667											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pmc.3		NaN																	0					0						c.(58-60)CTG>CTA		ferredoxin-fold anticodon binding domain							31.0	41.0	38.0					11																	111749797		1983	4174	6157	SO:0001819	synonymous_variant	91893				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr11:111749797C>T		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.60G>A	11.37:g.111749797C>T			OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1437	ALG9_uc010rwo.1_5'UTR|FDXACB1_uc009yyi.2_5'UTR|C11orf1_uc001pmd.2_5'Flank|C11orf1_uc001pme.2_5'Flank	p.L20L	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN			1	357	-			20					A0PJW7|B4DUU2	Silent	SNP	ENST00000260257.4	37	c.60G>A	CCDS44729.1																																																																																				0.667	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1		NM_138378		6	34	0	0	0	0.001984	0	6	34		
KMT2A	4297	broad.mit.edu	37	11	118374637	118374637	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:118374637C>G	ENST00000389506.5	+	27	8021	c.8021C>G	c.(8020-8022)tCa>tGa	p.S2674*	KMT2A_ENST00000534358.1_Nonsense_Mutation_p.S2677*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.S2636*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2674					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TTAAGCACTTCAGATGAAGAC	0.463																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(8020-8022)TCA>TGA		myeloid/lymphoid or mixed-lineage leukemia							85.0	73.0	77.0					11																	118374637		2200	4296	6496	SO:0001587	stop_gained	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118374637C>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8021C>G	11.37:g.118374637C>G	ENSP00000374157:p.Ser2674*					MLL_uc001ptb.2_Nonsense_Mutation_p.S2677*	p.S2674*	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	8044	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2674					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.8021C>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	47	13.594492	0.99751	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	5.43	5.43	0.79202	.	0.070725	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.428	0.94751	0.0:1.0:0.0:0.0	.	.	.	.	X	2677;2674;2636;1584	.	ENSP00000346516:S2636X	S	+	2	0	MLL	117879847	1.000000	0.71417	0.989000	0.46669	0.856000	0.48823	7.320000	0.79064	2.824000	0.97209	0.655000	0.94253	TCA		0.463	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		26	37	0	0	0	0.004656	0	26	37		
B4GALNT3	283358	broad.mit.edu	37	12	569632	569632	+	Silent	SNP	C	C	A	rs370603270		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:569632C>A	ENST00000266383.5	+	1	103	c.90C>A	c.(88-90)gcC>gcA	p.A30A		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	30					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGGCGCTCGCCGTGGTGTCTG	0.731																																						uc001qii.1		NaN																	0				ovary(1)|skin(1)	2						c.(88-90)GCC>GCA		beta							11.0	14.0	13.0					12																	569632		2179	4279	6458	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:569632C>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.90C>A	12.37:g.569632C>A							p.A30A	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		1	90	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		30			Helical; Signal-anchor for type II membrane protein; (Potential).		Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.90C>A	CCDS8504.1																																																																																				0.731	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2		NM_173593		3	5	1	0	0.000602214	0.014758	0.000611236	3	5		
DYRK4	8798	broad.mit.edu	37	12	4702231	4702231	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:4702231C>T	ENST00000540757.2	+	4	342	c.182C>T	c.(181-183)gCg>gTg	p.A61V	DYRK4_ENST00000010132.5_Missense_Mutation_p.A61V|DYRK4_ENST00000543431.1_Missense_Mutation_p.A61V	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	61			A -> T (in dbSNP:rs12306130).			cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTGGGCTACGCGGAGCTGTGG	0.458																																						uc001qmx.2		NaN																	0				lung(2)|skin(1)	3						c.(181-183)GCG>GTG		dual-specificity tyrosine-(Y)-phosphorylation							75.0	81.0	79.0					12																	4702231		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4702231C>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.182C>T	12.37:g.4702231C>T	ENSP00000441755:p.Ala61Val					DYRK4_uc009zeh.1_Missense_Mutation_p.A176V|DYRK4_uc001qmy.1_Missense_Mutation_p.A61V	p.A61V	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		4	342	+			61					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.182C>T	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985288	0.53934	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.64260	-0.09;-0.07;-0.07;-0.07	4.93	4.01	0.46588	.	0.377447	0.28677	N	0.014507	T	0.46249	0.1383	N	0.19112	0.55	0.80722	D	1	B;B;B	0.26975	0.165;0.156;0.048	B;B;B	0.25987	0.038;0.065;0.03	T	0.48246	-0.9052	10	0.72032	D	0.01	.	10.6754	0.45783	0.1484:0.7083:0.1433:0.0	.	176;61;61	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	V	176;61;61;61	ENSP00000437534:A176V;ENSP00000441755:A61V;ENSP00000010132:A61V;ENSP00000439697:A61V	ENSP00000010132:A61V	A	+	2	0	DYRK4	4572492	0.902000	0.30710	0.955000	0.39395	0.726000	0.41606	5.190000	0.65104	1.266000	0.44231	0.511000	0.50034	GCG		0.458	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2				29	101	0	0	0	0.007291	0	29	101		
NCAPD2	9918	broad.mit.edu	37	12	6637881	6637881	+	Silent	SNP	G	G	A	rs149244253	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:6637881G>A	ENST00000315579.5	+	26	4135	c.3336G>A	c.(3334-3336)gcG>gcA	p.A1112A	NCAPD2_ENST00000545962.1_Silent_p.A1067A	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1112					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGAAAACAGCGGGGCTGGTGA	0.597																																						uc001qoo.2		NaN																	0				ovary(2)|lung(1)|breast(1)|kidney(1)	5						c.(3334-3336)GCG>GCA		non-SMC condensin I complex, subunit D2		G		3,4403	6.2+/-15.9	0,3,2200	69.0	65.0	66.0		3336	-7.1	0.4	12	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous	NCAPD2	NM_014865.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		1112/1402	6637881	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6637881G>A	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.3336G>A	12.37:g.6637881G>A						NCAPD2_uc010sfd.1_Silent_p.A1067A	p.A1112A	NM_014865	NP_055680	Q15021	CND1_HUMAN			26	3382	+			1112					D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	c.3336G>A	CCDS8548.1																																																																																				0.597	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1		NM_014865		8	68	0	0	0	0.00308	0	8	68		
PTPN6	5777	broad.mit.edu	37	12	7064630	7064630	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:7064630C>T	ENST00000318974.9	+	6	973	c.729C>T	c.(727-729)ggC>ggT	p.G243G	PTPN6_ENST00000399448.1_Silent_p.G245G|PTPN6_ENST00000456013.1_Silent_p.G243G|PTPN6_ENST00000447931.2_Silent_p.G204G	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	243					abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCAAGGCTGGCTTCTGGGAGG	0.632																																						uc001qsb.2		NaN																	0				breast(1)	1						c.(727-729)GGC>GGT		protein tyrosine phosphatase, non-receptor type							98.0	114.0	109.0					12																	7064630		2075	4198	6273	SO:0001819	synonymous_variant	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7064630C>T		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.729C>T	12.37:g.7064630C>T						PTPN6_uc001qsa.1_Silent_p.G245G|PTPN6_uc010sfr.1_Silent_p.G204G|PTPN6_uc009zfl.1_Silent_p.G243G|PTPN6_uc010sfs.1_Silent_p.G231G	p.G243G	NM_002831	NP_002822	P29350	PTN6_HUMAN			6	971	+			243					A8K306|G3V0F8|Q969V8|Q9UK67	Silent	SNP	ENST00000318974.9	37	c.729C>T	CCDS44820.1																																																																																				0.632	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1		NM_002831		19	109	0	0	0	0.006122	0	19	109		
C12orf36	283422	broad.mit.edu	37	12	13526188	13526188	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:13526188C>G	ENST00000318426.2	-	3	584	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	C12orf36_ENST00000531049.1_5'Flank|C12orf36_ENST00000527705.2_Missense_Mutation_p.E123Q					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		ACATCTTCCTCAATTTTCTGC	0.408																																						uc001rbs.1		NaN																	0					0						c.(367-369)GAG>CAG		hypothetical protein LOC283422							218.0	203.0	208.0					12																	13526188		2203	4300	6503	SO:0001583	missense	283422							g.chr12:13526188C>G	AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.367G>C	12.37:g.13526188C>G	ENSP00000443007:p.Glu123Gln						p.E123Q	NM_182558	NP_872364				BRCA - Breast invasive adenocarcinoma(232;0.198)	3	585	-									Missense_Mutation	SNP	ENST00000318426.2	37	c.367G>C		.	.	.	.	.	.	.	.	.	.	C	4.300	0.054911	0.08291	.	.	ENSG00000180861	ENST00000318426;ENST00000527705	T;T	0.30182	1.54;1.54	2.96	-4.11	0.03928	.	.	.	.	.	T	0.15998	0.0385	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.31558	-0.9939	8	0.87932	D	0	.	0.0876	0.00037	0.3185:0.2386:0.1824:0.2606	.	123	Q495D7	CL036_HUMAN	Q	123	ENSP00000443007:E123Q;ENSP00000443346:E123Q	ENSP00000443007:E123Q	E	-	1	0	C12orf36	13417455	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.157000	0.10085	-0.920000	0.03799	-1.147000	0.01851	GAG		0.408	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395025.2		NM_182558		30	95	0	0	0	0.013726	0	30	95		
C12orf77	196415	broad.mit.edu	37	12	25149195	25149195	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:25149195G>C	ENST00000549828.1	-	2	286	c.82C>G	c.(82-84)Caa>Gaa	p.Q28E	C12orf77_ENST00000434912.3_5'UTR|C12orf77_ENST00000549262.1_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	28										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TCCAGAATTTGAATATTATTT	0.443																																						uc001rgf.2		NaN																	0					0						c.(82-84)CAA>GAA		hypothetical protein LOC196415							142.0	136.0	138.0					12																	25149195		1908	4134	6042	SO:0001583	missense	196415							g.chr12:25149195G>C	BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.82C>G	12.37:g.25149195G>C	ENSP00000447146:p.Gln28Glu						p.Q28E	NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN			2	287	-			28						Missense_Mutation	SNP	ENST00000549828.1	37	c.82C>G	CCDS44846.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312012	0.23821	.	.	ENSG00000226397	ENST00000549828	T	0.51574	0.7	4.46	3.55	0.40652	.	.	.	.	.	T	0.35158	0.0922	N	0.08118	0	0.80722	D	1	D	0.54207	0.965	P	0.50082	0.63	T	0.34104	-0.9842	9	0.87932	D	0	.	10.1774	0.42946	0.0:0.0:0.7854:0.2146	.	28	C9JDV5	CL097_HUMAN	E	28	ENSP00000447146:Q28E	ENSP00000447146:Q28E	Q	-	1	0	C12orf77	25040462	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.074000	0.41529	1.137000	0.42214	0.655000	0.94253	CAA		0.443	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407827.1		NM_001101339		14	71	0	0	0	0.00245	0	14	71		
TMTC1	83857	broad.mit.edu	37	12	29786270	29786270	+	Splice_Site	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:29786270C>A	ENST00000539277.1	-	6	997		c.e6-1		TMTC1_ENST00000381224.2_Splice_Site|TMTC1_ENST00000319685.8_Splice_Site|TMTC1_ENST00000551659.1_Splice_Site|TMTC1_ENST00000256062.5_Splice_Site|TMTC1_ENST00000552618.1_Splice_Site	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGTGAGGAATCTATAAAGAGA	0.443																																						uc001rjb.2		NaN																	0					0						c.e6-1		transmembrane and tetratricopeptide repeat							66.0	58.0	61.0					12																	29786270		2203	4300	6503	SO:0001630	splice_region_variant	83857					integral to membrane	binding	g.chr12:29786270C>A		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.939-1G>T	12.37:g.29786270C>A						TMTC1_uc001riz.2_Splice_Site|TMTC1_uc001rja.2_Splice_Site_p.R49_splice|TMTC1_uc001rjc.1_Splice_Site_p.R267_splice	p.R205_splice	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			6	1089	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)							D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Splice_Site	SNP	ENST00000539277.1	37	c.615_splice	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404212	0.83230	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0281	0.89275	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMTC1	29677537	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	6.989000	0.76219	2.593000	0.87608	0.655000	0.94253	.		0.443	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1		NM_031920	Intron	22	35	1	0	1.96292e-10	0.010504	2.06183e-10	22	35		
LRRK2	120892	broad.mit.edu	37	12	40687375	40687375	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:40687375G>C	ENST00000298910.7	+	21	2776	c.2718G>C	c.(2716-2718)aaG>aaC	p.K906N	LRRK2_ENST00000343742.2_Missense_Mutation_p.K906N	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	906					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGTGAAAAAGAAATCTAATT	0.323																																						uc001rmg.3		NaN																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(2716-2718)AAG>AAC		leucine-rich repeat kinase 2							72.0	71.0	71.0					12																	40687375		2201	4299	6500	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40687375G>C	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2718G>C	12.37:g.40687375G>C	ENSP00000298910:p.Lys906Asn					LRRK2_uc001rmh.1_Missense_Mutation_p.K528N|LRRK2_uc009zjw.2_5'Flank	p.K906N	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			21	2839	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	906					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.2718G>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335966	0.41398	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.73575	2.04;-0.76	5.03	3.14	0.36123	.	0.665905	0.15292	N	0.270095	T	0.58250	0.2109	L	0.29908	0.895	0.21740	N	0.999562	P;B	0.38195	0.622;0.22	B;B	0.34346	0.18;0.068	T	0.42068	-0.9473	10	0.30078	T	0.28	.	8.5347	0.33355	0.2457:0.0:0.7543:0.0	.	906;906	E9PC85;Q5S007	.;LRRK2_HUMAN	N	906	ENSP00000341930:K906N;ENSP00000298910:K906N	ENSP00000298910:K906N	K	+	3	2	LRRK2	38973642	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	2.166000	0.42406	0.572000	0.29383	0.650000	0.86243	AAG		0.323	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1		XM_058513		15	12	0	0	0	0.003163	0	15	12		
LRRK2	120892	broad.mit.edu	37	12	40728880	40728880	+	Missense_Mutation	SNP	C	C	T	rs200521995		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:40728880C>T	ENST00000298910.7	+	40	5927	c.5869C>T	c.(5869-5871)Cgc>Tgc	p.R1957C		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1957	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.R1957C(1)|p.R1964C(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCCTTGGATCGCCTGCTTCA	0.527																																						uc001rmg.3		NaN																	2	Substitution - Missense(2)	p.R1957C(1)|p.R1964C(1)	pancreas(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(5869-5871)CGC>TGC		leucine-rich repeat kinase 2							122.0	113.0	116.0					12																	40728880		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40728880C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5869C>T	12.37:g.40728880C>T	ENSP00000298910:p.Arg1957Cys					LRRK2_uc009zjw.2_Missense_Mutation_p.R795C|LRRK2_uc001rmi.2_Missense_Mutation_p.R790C	p.R1957C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			40	5990	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1957			Protein kinase.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5869C>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639765	0.67244	.	.	ENSG00000188906	ENST00000298910	D	0.93604	-3.25	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.309294	0.36303	N	0.002666	D	0.94912	0.8355	L	0.42245	1.32	0.44227	D	0.997061	D;D	0.89917	0.996;1.0	D;D	0.65443	0.935;0.935	D	0.95373	0.8466	10	0.59425	D	0.04	.	17.9756	0.89126	0.0:1.0:0.0:0.0	.	1957;1957	Q17RV3;Q5S007	.;LRRK2_HUMAN	C	1957	ENSP00000298910:R1957C	ENSP00000298910:R1957C	R	+	1	0	LRRK2	39015147	0.998000	0.40836	0.998000	0.56505	0.993000	0.82548	1.567000	0.36407	2.245000	0.73994	0.561000	0.74099	CGC		0.527	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1		XM_058513		16	53	0	0	0	0.00499	0	16	53		
CNTN1	1272	broad.mit.edu	37	12	41337465	41337465	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:41337465T>C	ENST00000551295.2	+	13	1563	c.1446T>C	c.(1444-1446)taT>taC	p.Y482Y	CNTN1_ENST00000547849.1_Silent_p.Y482Y|CNTN1_ENST00000360099.3_Silent_p.Y482Y|CNTN1_ENST00000347616.1_Silent_p.Y482Y|CNTN1_ENST00000348761.2_Silent_p.Y471Y|CNTN1_ENST00000547702.1_Silent_p.Y482Y	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	482	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGGTATCTATACATGCTTTG	0.333																																						uc001rmm.1		NaN																	0				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(1444-1446)TAT>TAC		contactin 1 isoform 1 precursor							105.0	106.0	105.0					12																	41337465		2203	4299	6502	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41337465T>C	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1446T>C	12.37:g.41337465T>C						CNTN1_uc009zjy.1_Silent_p.Y482Y|CNTN1_uc001rmn.1_Silent_p.Y471Y|CNTN1_uc001rmo.2_Silent_p.Y482Y	p.Y482Y	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			13	1559	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	482			Ig-like C2-type 5.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.1446T>C	CCDS8737.1																																																																																				0.333	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2		NM_001843		18	55	0	0	0	0.012319	0	18	55		
SLC38A2	54407	broad.mit.edu	37	12	46757568	46757568	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:46757568A>C	ENST00000256689.5	-	12	1439	c.995T>G	c.(994-996)tTt>tGt	p.F332C	SLC38A2_ENST00000551374.1_Missense_Mutation_p.F170C|SLC38A2_ENST00000547252.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	332					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CATAGCAAAAAATGAAATCTT	0.358																																					Ovarian(9;448 492 8335 28722 40361)	uc001rpg.2		NaN																	0				urinary_tract(1)|skin(1)	2						c.(994-996)TTT>TGT		solute carrier family 38, member 2							111.0	110.0	110.0					12																	46757568		2202	4299	6501	SO:0001583	missense	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46757568A>C	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.995T>G	12.37:g.46757568A>C	ENSP00000256689:p.Phe332Cys					SLC38A2_uc010sli.1_Missense_Mutation_p.F170C|SLC38A2_uc001rph.2_Missense_Mutation_p.F232C	p.F332C	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	12	1435	-	Lung SC(27;0.192)|Renal(347;0.236)		332			Helical; (Potential).		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	c.995T>G	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717603	0.89205	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.02323	4.34;4.34	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	0.988;0.998;1.0	P;D;D	0.91635	0.887;0.944;0.999	T	0.00346	-1.1800	10	0.46703	T	0.11	-24.1435	15.7363	0.77846	1.0:0.0:0.0:0.0	.	170;232;332	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	C	332;170	ENSP00000256689:F332C;ENSP00000450406:F170C	ENSP00000256689:F332C	F	-	2	0	SLC38A2	45043835	1.000000	0.71417	0.973000	0.42090	0.968000	0.65278	9.287000	0.95975	2.189000	0.69895	0.460000	0.39030	TTT		0.358	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1				25	28	0	0	0	0.01892	0	25	28		
C1QL4	338761	broad.mit.edu	37	12	49726986	49726986	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:49726986C>G	ENST00000334221.3	-	2	1278	c.568G>C	c.(568-570)Gac>Cac	p.D190H		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	190	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						TAGTTCTGGTCCGCGTCCTGA	0.637																																						uc001rtz.1		NaN																	0					0						c.(568-570)GAC>CAC		complement component 1, q subcomponent-like 4							130.0	94.0	107.0					12																	49726986		2203	4300	6503	SO:0001583	missense	338761					collagen		g.chr12:49726986C>G		CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.568G>C	12.37:g.49726986C>G	ENSP00000335285:p.Asp190His						p.D190H	NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN			2	1279	-			190			C1q.			Missense_Mutation	SNP	ENST00000334221.3	37	c.568G>C	CCDS31793.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957094	0.92726	.	.	ENSG00000186897	ENST00000334221	T	0.22945	1.93	5.1	5.1	0.69264	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000001	T	0.52837	0.1759	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55166	-0.8183	10	0.66056	D	0.02	.	17.4521	0.87595	0.0:1.0:0.0:0.0	.	190	Q86Z23	C1QL4_HUMAN	H	190	ENSP00000335285:D190H	ENSP00000335285:D190H	D	-	1	0	C1QL4	48013253	1.000000	0.71417	0.968000	0.41197	0.989000	0.77384	7.564000	0.82326	2.655000	0.90218	0.462000	0.41574	GAC		0.637	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404561.1		NM_001008223		11	24	0	0	0	0.013537	0	11	24		
LIMA1	51474	broad.mit.edu	37	12	50571654	50571654	+	Silent	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:50571654T>A	ENST00000341247.4	-	11	1622	c.1473A>T	c.(1471-1473)ccA>ccT	p.P491P	LIMA1_ENST00000552909.1_Silent_p.P330P|LIMA1_ENST00000552783.1_Silent_p.P332P|LIMA1_ENST00000394943.3_Silent_p.P492P|LIMA1_ENST00000552823.1_Silent_p.P331P|LIMA1_ENST00000547825.1_Silent_p.P189P|LIMA1_ENST00000552491.1_Silent_p.P188P	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	491				P -> Q (in Ref. 2; AAF67491). {ECO:0000305}.	actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CTTCTACCCCTGGGCTGTGAG	0.522																																						uc001rwj.3		NaN																	0				ovary(1)	1						c.(1471-1473)CCA>CCT		LIM domain and actin binding 1 isoform b							136.0	133.0	134.0					12																	50571654		2203	4300	6503	SO:0001819	synonymous_variant	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50571654T>A	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1473A>T	12.37:g.50571654T>A						LIMA1_uc001rwg.3_Silent_p.P189P|LIMA1_uc001rwh.3_Silent_p.P330P|LIMA1_uc001rwi.3_Silent_p.P332P|LIMA1_uc001rwk.3_Silent_p.P492P|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.P491P	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			11	1647	-			491	P -> Q (in Ref. 2; AAF67491).				B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Silent	SNP	ENST00000341247.4	37	c.1473A>T	CCDS8802.1																																																																																				0.522	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2		NM_016357		33	107	0	0	0	0.013726	0	33	107		
DIP2B	57609	broad.mit.edu	37	12	51065124	51065124	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:51065124G>A	ENST00000301180.5	+	5	617	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	195	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GCTGTCCCACGGAGAGGTCAA	0.483																																						uc001rwv.2		NaN																	0				ovary(4)|breast(1)|pancreas(1)	6						c.(583-585)GGA>AGA		DIP2 disco-interacting protein 2 homolog B							131.0	116.0	121.0					12																	51065124		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51065124G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.583G>A	12.37:g.51065124G>A	ENSP00000301180:p.Gly195Arg					DIP2B_uc001rwu.2_Missense_Mutation_p.G195R|DIP2B_uc009zls.1_Missense_Mutation_p.G77R	p.G195R	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			5	739	+			195			Ser-rich.		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.583G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033604	0.75504	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.24908	1.83	5.26	5.26	0.73747	.	0.045494	0.85682	D	0.000000	T	0.45034	0.1322	L	0.48986	1.54	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.71414	0.831;0.973	T	0.05699	-1.0869	10	0.22706	T	0.39	-13.2757	19.1286	0.93396	0.0:0.0:1.0:0.0	.	195;205	Q9P265;E9PHD6	DIP2B_HUMAN;.	R	205;195	ENSP00000301180:G195R	ENSP00000301180:G195R	G	+	1	0	DIP2B	49351391	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.260000	0.95568	2.758000	0.94735	0.586000	0.80456	GGA		0.483	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602		60	43	0	0	0	0.01441	0	60	43		
SCN8A	6334	broad.mit.edu	37	12	52115497	52115497	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:52115497C>G	ENST00000354534.6	+	12	1981	c.1803C>G	c.(1801-1803)ctC>ctG	p.L601L	SCN8A_ENST00000550891.1_Silent_p.L601L|SCN8A_ENST00000545061.1_Silent_p.L601L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	601					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GGGACTCCCTCTTCATCCCCA	0.706																																						uc001ryw.2		NaN																	0				ovary(7)	7						c.(1801-1803)CTC>CTG		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						8.0	14.0	12.0					12																	52115497		1988	4146	6134	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52115497C>G	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1803C>G	12.37:g.52115497C>G						SCN8A_uc010snl.1_Silent_p.L466L|SCN8A_uc001ryx.1_Silent_p.L466L|SCN8A_uc001ryz.1_Silent_p.L466L|SCN8A_uc001ryy.2_Silent_p.L466L	p.L601L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	12	1981	+			601					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.1803C>G	CCDS44891.1																																																																																				0.706	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3		NM_014191		5	11	0	0	0	0.014758	0	5	11		
PA2G4	5036	broad.mit.edu	37	12	56500804	56500804	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:56500804A>G	ENST00000303305.6	+	3	667	c.248A>G	c.(247-249)aAt>aGt	p.N83S	PA2G4_ENST00000552766.1_Missense_Mutation_p.N83S|RP11-603J24.17_ENST00000548595.1_RNA|RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.N64S	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	83					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			ATTTCGGTAAATAACTGTGTA	0.428																																						uc001sjm.2		NaN																	0					0						c.(247-249)AAT>AGT		ErbB3-binding protein 1							111.0	114.0	113.0					12																	56500804		2203	4300	6503	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56500804A>G	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.248A>G	12.37:g.56500804A>G	ENSP00000302886:p.Asn83Ser					PA2G4_uc009zol.2_Missense_Mutation_p.N83S|PA2G4_uc009zom.2_Missense_Mutation_p.N83S	p.N83S	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		3	667	+			83					O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.248A>G	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	A	31	5.077719	0.94000	.	.	ENSG00000257411;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515	ENST00000548861;ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057;ENST00000551061	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	5.54	5.54	0.83059	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.89178	0.6641	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.966;0.986	D	0.89788	0.3966	10	0.52906	T	0.07	.	14.6751	0.68972	1.0:0.0:0.0:0.0	.	83;83;83	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	S	64;83;83;112;83;83;72;29	ENSP00000449770:N64S;ENSP00000302886:N83S;ENSP00000448557:N83S;ENSP00000447615:N72S;ENSP00000447389:N29S	ENSP00000302886:N83S	N	+	2	0	PA2G4;RP11-603J24.9	54787071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.218000	0.95166	2.114000	0.64651	0.533000	0.62120	AAT		0.428	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1		NM_006191		29	69	0	0	0	0.00632	0	29	69		
PIP4K2C	79837	broad.mit.edu	37	12	57992965	57992965	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:57992965C>T	ENST00000354947.5	+	5	647	c.631C>T	c.(631-633)Ctt>Ttt	p.L211F	PIP4K2C_ENST00000540759.2_Missense_Mutation_p.L211F|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.L163F|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.L193F			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	211	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TAGCCACCGTCTTCCTGTGCA	0.537																																						uc001sou.2		NaN																	0				central_nervous_system(2)|lung(1)	3						c.(631-633)CTT>TTT		phosphatidylinositol-5-phosphate 4-kinase, type							131.0	104.0	113.0					12																	57992965		2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57992965C>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.631C>T	12.37:g.57992965C>T	ENSP00000347032:p.Leu211Phe					PIP4K2C_uc001sot.2_Missense_Mutation_p.L211F|PIP4K2C_uc010srs.1_Missense_Mutation_p.L193F|PIP4K2C_uc010srt.1_Missense_Mutation_p.L163F	p.L211F	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			5	762	+	Melanoma(17;0.122)		211			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.631C>T	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.681564	0.88542	.	.	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000436866;ENST00000550465;ENST00000354947	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.39	4.49	0.54785	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	M	0.83852	2.665	0.80722	D	1	P;P;P	0.49253	0.921;0.722;0.921	P;B;P	0.56960	0.81;0.414;0.81	T	0.61357	-0.7079	10	0.54805	T	0.06	-12.2567	14.1303	0.65250	0.0:0.921:0.0:0.079	.	163;193;211	B4DM11;B4DY44;Q8TBX8	.;.;PI42C_HUMAN	F	163;211;211;193;211	ENSP00000412035:L163F;ENSP00000439878:L211F;ENSP00000447390:L193F;ENSP00000347032:L211F	ENSP00000347032:L211F	L	+	1	0	PIP4K2C	56279232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.692000	0.68256	2.706000	0.92434	0.455000	0.32223	CTT		0.537	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1		NM_024779		18	36	0	0	0	0.006122	0	18	36		
SLC16A7	9194	broad.mit.edu	37	12	60168667	60168667	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:60168667C>G	ENST00000261187.4	+	4	755	c.591C>G	c.(589-591)ccC>ccG	p.P197P	SLC16A7_ENST00000552432.1_Silent_p.P197P|SLC16A7_ENST00000552024.1_Silent_p.P197P|SLC16A7_ENST00000547379.1_Silent_p.P197P|SLC16A7_ENST00000543448.1_Silent_p.P98P	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	197					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TCATGAGACCCCTTGGACCCA	0.403																																						uc001sqs.2		NaN																	0				ovary(1)	1						c.(589-591)CCC>CCG		solute carrier family 16, member 7	Pyruvic acid(DB00119)						49.0	50.0	50.0					12																	60168667		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60168667C>G	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.591C>G	12.37:g.60168667C>G						SLC16A7_uc001sqt.2_Silent_p.P197P|SLC16A7_uc001squ.2_Silent_p.P197P|SLC16A7_uc009zqi.2_Silent_p.P98P|SLC16A7_uc010ssi.1_Silent_p.P98P	p.P197P	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	890	+			197			Cytoplasmic (Potential).		Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.591C>G	CCDS8961.1																																																																																				0.403	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1		NM_004731		30	18	0	0	0	0.008361	0	30	18		
GRIP1	23426	broad.mit.edu	37	12	66932910	66932910	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:66932910C>G	ENST00000398016.3	-	4	434	c.366G>C	c.(364-366)aaG>aaC	p.K122N	GRIP1_ENST00000359742.4_Missense_Mutation_p.K122N|GRIP1_ENST00000286445.7_Missense_Mutation_p.K122N	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	167	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTCCCACATTCTTCAGCAAGC	0.488																																						uc001stk.2		NaN																	0				ovary(2)	2						c.(364-366)AAG>AAC		glutamate receptor interacting protein 1							216.0	206.0	209.0					12																	66932910		1949	4139	6088	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66932910C>G	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.366G>C	12.37:g.66932910C>G	ENSP00000381098:p.Lys122Asn					GRIP1_uc010sta.1_Missense_Mutation_p.K66N|GRIP1_uc001stl.1_Missense_Mutation_p.K66N|GRIP1_uc001stm.2_Missense_Mutation_p.K122N	p.K122N	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	4	607	-			122			PDZ 1.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.366G>C	CCDS41807.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421123	0.62622	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215;ENST00000545666;ENST00000542309;ENST00000539540;ENST00000541947	T;T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	4.55	3.65	0.41850	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.995	T	0.75300	-0.3366	9	.	.	.	-15.995	11.9883	0.53161	0.0:0.9139:0.0:0.0861	.	122;122;122	F5H4N6;Q9Y3R0;Q9Y3R0-3	.;GRIP1_HUMAN;.	N	122;122;122;122;66;66;95;66;66;148	ENSP00000381098:K122N;ENSP00000352780:K122N;ENSP00000286445:K122N;ENSP00000446047:K122N;ENSP00000446024:K66N;ENSP00000446011:K66N;ENSP00000439124:K95N;ENSP00000438500:K66N;ENSP00000443392:K66N;ENSP00000438921:K148N	.	K	-	3	2	GRIP1	65219177	1.000000	0.71417	0.997000	0.53966	0.548000	0.35241	2.661000	0.46758	1.027000	0.39758	0.467000	0.42956	AAG		0.488	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2				6	117	0	0	0	0.004482	0	6	117		
NTN4	59277	broad.mit.edu	37	12	96077360	96077360	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:96077360C>T	ENST00000343702.4	-	6	1756	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	NTN4_ENST00000538383.1_Silent_p.V399V|NTN4_ENST00000344911.4_Silent_p.V399V|NTN4_ENST00000553059.1_Silent_p.V436V	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	436	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCCAGTATCCCACCATGCACC	0.597																																						uc001tei.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1306-1308)GTG>GTA		netrin 4 precursor							113.0	88.0	96.0					12																	96077360		2203	4300	6503	SO:0001819	synonymous_variant	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96077360C>T	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1308G>A	12.37:g.96077360C>T						NTN4_uc009ztf.2_Silent_p.V436V|NTN4_uc009ztg.2_Silent_p.V399V	p.V436V	NM_021229	NP_067052	Q9HB63	NET4_HUMAN			6	1757	-			436			Laminin EGF-like 3.		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Silent	SNP	ENST00000343702.4	37	c.1308G>A	CCDS9054.1																																																																																				0.597	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1		NM_021229		12	30	0	0	0	0.013537	0	12	30		
CFAP54	144535	broad.mit.edu	37	12	97114276	97114276	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:97114276G>C	ENST00000524981.4	+	50	6921	c.6898G>C	c.(6898-6900)Gag>Cag	p.E2300Q				Q96N23	CL055_HUMAN		0																	TGGCGAGCTGGAGATTGTGGT	0.587																																						uc001tet.1		NaN																	0				skin(6)|ovary(1)	7						c.(2173-2175)GAG>CAG		hypothetical protein LOC374467							69.0	56.0	60.0					12																	97114276		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97114276G>C																												ENST00000524981.4:c.6898G>C	12.37:g.97114276G>C	ENSP00000431759:p.Glu2300Gln						p.E725Q	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			17	2251	+			725						Missense_Mutation	SNP	ENST00000524981.4	37	c.2173G>C		.	.	.	.	.	.	.	.	.	.	G	16.35	3.097452	0.56075	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.04	5.04	0.67666	.	0.000000	0.56097	D	0.000022	T	0.69895	0.3162	M	0.68952	2.095	0.29926	N	0.822298	D	0.89917	1.0	D	0.87578	0.998	T	0.69503	-0.5128	9	0.72032	D	0.01	-15.7934	14.2697	0.66145	0.0:0.0:1.0:0.0	.	725	Q6ZTY8	CL063_HUMAN	Q	2300;725	.	ENSP00000345466:E725Q	E	+	1	0	C12orf63	95638407	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	5.057000	0.64294	2.524000	0.85096	0.655000	0.94253	GAG		0.587	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4				5	10	0	0	0	0.014758	0	5	10		
ANKS1B	56899	broad.mit.edu	37	12	100377945	100377945	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:100377945G>T	ENST00000547776.2	-	1	70	c.71C>A	c.(70-72)tCt>tAt	p.S24Y	ANKS1B_ENST00000547010.1_De_novo_Start_OutOfFrame|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S24Y	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	24						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTCCTGCCAGACAGGAGTTT	0.612																																						uc001tge.1		NaN																	0					0						c.(70-72)TCT>TAT		cajalin 2 isoform a							67.0	76.0	73.0					12																	100377945		1968	4130	6098	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100377945G>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.71C>A	12.37:g.100377945G>T	ENSP00000449629:p.Ser24Tyr					ANKS1B_uc001tgf.1_Translation_Start_Site|ANKS1B_uc009ztt.1_Missense_Mutation_p.S24Y	p.S24Y	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	1	488	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	24			ANK 1.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.71C>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628833	0.67015	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.66638	-0.22;-0.22;-0.22	4.5	4.5	0.54988	Ankyrin repeat-containing domain (3);	0.340671	0.20929	N	0.083131	T	0.77478	0.4136	L	0.54965	1.715	0.80722	D	1	D;D	0.76494	0.965;0.999	P;D	0.80764	0.731;0.994	T	0.76849	-0.2807	9	.	.	.	-5.8032	15.3572	0.74437	0.0:0.0:1.0:0.0	.	24;24	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	Y	24	ENSP00000449629:S24Y;ENSP00000331381:S24Y;ENSP00000449894:S24Y	.	S	-	2	0	ANKS1B	98902076	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.478000	0.66806	2.048000	0.60808	0.462000	0.41574	TCT		0.612	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3		NM_020140		5	16	1	0	0.000602214	0.014758	0.000611236	5	16		
UTP20	27340	broad.mit.edu	37	12	101685532	101685532	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:101685532G>A	ENST00000261637.4	+	9	1078	c.904G>A	c.(904-906)Gat>Aat	p.D302N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	302					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATCGCTCTTGGATCTACACAC	0.328																																						uc001tia.1		NaN																	0				ovary(2)|breast(2)	4						c.(904-906)GAT>AAT		down-regulated in metastasis							54.0	55.0	55.0					12																	101685532		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101685532G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.904G>A	12.37:g.101685532G>A	ENSP00000261637:p.Asp302Asn						p.D302N	NM_014503	NP_055318	O75691	UTP20_HUMAN			9	1060	+			302					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.904G>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	7.900	0.734273	0.15574	.	.	ENSG00000120800	ENST00000261637	T	0.65364	-0.15	5.79	4.9	0.64082	Armadillo-type fold (1);	0.482925	0.24431	N	0.038595	T	0.38799	0.1054	N	0.08118	0	0.28097	N	0.931556	B	0.06786	0.001	B	0.06405	0.002	T	0.20273	-1.0280	10	0.18276	T	0.48	-5.3492	10.7679	0.46305	0.0714:0.132:0.7966:0.0	.	302	O75691	UTP20_HUMAN	N	302	ENSP00000261637:D302N	ENSP00000261637:D302N	D	+	1	0	UTP20	100209663	0.879000	0.30193	0.998000	0.56505	0.040000	0.13550	1.633000	0.37113	1.455000	0.47813	0.655000	0.94253	GAT		0.328	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1		NM_014503		8	20	0	0	0	0.006214	0	8	20		
UBE3B	89910	broad.mit.edu	37	12	109935699	109935699	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:109935699G>A	ENST00000342494.3	+	10	1385	c.790G>A	c.(790-792)Gtg>Atg	p.V264M	UBE3B_ENST00000280774.5_Missense_Mutation_p.V264M|UBE3B_ENST00000434735.2_Missense_Mutation_p.V264M	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	264					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCCTGCTCTGGTGACTCATCT	0.468																																						uc001top.2		NaN																	0				ovary(2)|lung(2)	4						c.(790-792)GTG>ATG		ubiquitin protein ligase E3B							207.0	162.0	177.0					12																	109935699		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109935699G>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.790G>A	12.37:g.109935699G>A	ENSP00000340596:p.Val264Met					UBE3B_uc001toq.2_Missense_Mutation_p.V264M|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.V264M	p.V264M	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			10	1393	+			264					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.790G>A	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083513	0.36758	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.52295	1.02;0.67;1.28;1.02	5.95	4.15	0.48705	.	0.163089	0.56097	D	0.000035	T	0.34454	0.0898	L	0.28192	0.835	0.42567	D	0.993166	B	0.13145	0.007	B	0.20184	0.028	T	0.09122	-1.0689	10	0.34782	T	0.22	-17.6587	11.1519	0.48464	0.1811:0.0:0.8189:0.0	.	264	Q7Z3V4	UBE3B_HUMAN	M	264	ENSP00000391529:V264M;ENSP00000280774:V264M;ENSP00000443131:V264M;ENSP00000340596:V264M	ENSP00000280774:V264M	V	+	1	0	UBE3B	108420082	0.896000	0.30565	0.756000	0.31282	0.995000	0.86356	1.298000	0.33412	0.878000	0.35920	0.585000	0.79938	GTG		0.468	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1		NM_183415		23	46	0	0	0	0.014323	0	23	46		
IFT81	28981	broad.mit.edu	37	12	110643430	110643430	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:110643430G>C	ENST00000242591.5	+	17	2253	c.1747G>C	c.(1747-1749)Gat>Cat	p.D583H	IFT81_ENST00000552912.1_Missense_Mutation_p.D583H	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	583					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.D583H(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TCGTGCTACTGATGAGATGAA	0.313																																						uc001tqi.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1747-1749)GAT>CAT		intraflagellar transport 81-like isoform 1							153.0	148.0	150.0					12																	110643430		1812	4074	5886	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110643430G>C	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1747G>C	12.37:g.110643430G>C	ENSP00000242591:p.Asp583His					IFT81_uc001tqh.2_Missense_Mutation_p.D583H|IFT81_uc001tqj.2_RNA	p.D583H	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			17	1877	+			583			Potential.		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.1747G>C	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632205	0.46944	.	.	ENSG00000122970	ENST00000552912;ENST00000242591;ENST00000550748	.	.	.	5.65	4.76	0.60689	.	0.275149	0.46145	D	0.000312	T	0.60547	0.2277	M	0.61703	1.905	0.37776	D	0.926867	B	0.14438	0.01	B	0.18561	0.022	T	0.62091	-0.6927	9	0.46703	T	0.11	-11.9264	14.2991	0.66334	0.0722:0.0:0.9278:0.0	.	583	Q8WYA0	IFT81_HUMAN	H	583;583;14	.	ENSP00000242591:D583H	D	+	1	0	IFT81	109127813	1.000000	0.71417	0.889000	0.34880	0.941000	0.58515	6.570000	0.73996	1.395000	0.46643	0.563000	0.77884	GAT		0.313	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1		NM_014055		32	75	0	0	0	0.009535	0	32	75		
RAD9B	144715	broad.mit.edu	37	12	110956514	110956514	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:110956514T>C	ENST00000409778.3	+	5	446	c.422T>C	c.(421-423)gTt>gCt	p.V141A	RAD9B_ENST00000409300.1_Missense_Mutation_p.V210A|RAD9B_ENST00000392672.4_Missense_Mutation_p.V210A|RAD9B_ENST00000409425.1_Missense_Mutation_p.V138A|RAD9B_ENST00000409246.1_Missense_Mutation_p.V138A			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	161					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						GAGATGTTTGTTGGCTCAGAT	0.289																																						uc001trf.3		NaN																	0				pancreas(1)|skin(1)	2						c.(628-630)GTT>GCT		RAD9 homolog B							84.0	84.0	84.0					12																	110956514		2203	4299	6502	SO:0001583	missense	144715				cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding	g.chr12:110956514T>C		CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.422T>C	12.37:g.110956514T>C	ENSP00000386697:p.Val141Ala					RAD9B_uc001trg.3_Missense_Mutation_p.V210A|RAD9B_uc010sya.1_Missense_Mutation_p.V141A|RAD9B_uc001tre.3_Missense_Mutation_p.V138A|RAD9B_uc001trd.3_Missense_Mutation_p.V52A	p.V210A	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN			7	767	+			207					Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	ENST00000409778.3	37	c.629T>C		.	.	.	.	.	.	.	.	.	.	T	23.4	4.408305	0.83340	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.63	5.63	0.86233	.	0.139408	0.47093	D	0.000246	T	0.31136	0.0787	L	0.40543	1.245	0.27714	N	0.94538	P;P;P	0.51653	0.896;0.947;0.947	P;P;P	0.50192	0.596;0.497;0.634	T	0.11591	-1.0581	9	.	.	.	-10.366	14.9553	0.71107	0.0:0.0:0.0:1.0	.	141;210;207	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	A	138;210;210;138;141	ENSP00000387329:V138A;ENSP00000376440:V210A;ENSP00000386434:V210A;ENSP00000386629:V138A;ENSP00000386697:V141A	.	V	+	2	0	RAD9B	109440897	1.000000	0.71417	0.913000	0.36048	0.947000	0.59692	5.855000	0.69510	2.261000	0.74972	0.477000	0.44152	GTT		0.289	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404634.1		NM_152442		10	23	0	0	0	0.006214	0	10	23		
RNF10	9921	broad.mit.edu	37	12	120995374	120995374	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:120995374T>C	ENST00000325954.4	+	6	1317	c.856T>C	c.(856-858)Tat>Cat	p.Y286H	RNF10_ENST00000413266.2_Missense_Mutation_p.Y286H	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	286					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCACATCAGTATGTTGTTGG	0.448																																						uc001typ.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(856-858)TAT>CAT		ring finger protein 10							350.0	287.0	308.0					12																	120995374		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120995374T>C	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.856T>C	12.37:g.120995374T>C	ENSP00000322242:p.Tyr286His					RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.Y192H	p.Y286H	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			6	1339	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		286					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.856T>C	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.849983	0.71603	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266	D;D	0.89746	-2.56;-2.54	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.93236	0.7845	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.92980	0.6405	10	0.48119	T	0.1	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	286;286	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	H	286	ENSP00000322242:Y286H;ENSP00000415682:Y286H	ENSP00000322242:Y286H	Y	+	1	0	RNF10	119479757	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	TAT		0.448	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4				38	77	0	0	0	0.005524	0	38	77		
TMEM120B	144404	broad.mit.edu	37	12	122213008	122213008	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:122213008C>G	ENST00000449592.2	+	11	979	c.878C>G	c.(877-879)tCc>tGc	p.S293C	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	293						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TTTGAGCTCTCCAGCCACGAG	0.637																																						uc001ubc.3		NaN																	0					0						c.(877-879)TCC>TGC		transmembrane protein 120B							35.0	37.0	36.0					12																	122213008		1973	4164	6137	SO:0001583	missense	144404					integral to membrane		g.chr12:122213008C>G	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.878C>G	12.37:g.122213008C>G	ENSP00000404991:p.Ser293Cys					TMEM120B_uc009zxh.2_3'UTR|TMEM120B_uc001uba.1_5'Flank	p.S293C	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)	11	1022	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		293					A0PK01|B3KX33	Missense_Mutation	SNP	ENST00000449592.2	37	c.878C>G	CCDS41852.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225625	0.79576	.	.	ENSG00000188735	ENST00000449592	T	0.33438	1.41	5.19	5.19	0.71726	.	0.106110	0.64402	D	0.000003	T	0.57315	0.2045	M	0.80847	2.515	0.80722	D	1	D	0.61080	0.989	D	0.64687	0.928	T	0.61544	-0.7041	10	0.54805	T	0.06	-30.6505	17.4796	0.87669	0.0:1.0:0.0:0.0	.	293	A0PK00	T120B_HUMAN	C	293	ENSP00000404991:S293C	ENSP00000345152:S293C	S	+	2	0	TMEM120B	120697391	0.997000	0.39634	1.000000	0.80357	0.906000	0.53458	3.199000	0.51043	2.420000	0.82092	0.561000	0.74099	TCC		0.637	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1		NM_001080825		12	14	0	0	0	0.016723	0	12	14		
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:122812709C>T	ENST00000540338.1	-	16	3075	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	CLIP1_ENST00000545889.1_Splice_Site_p.E587K|CLIP1_ENST00000361654.4_Splice_Site_p.E890K|CLIP1_ENST00000358808.2_Splice_Site_p.E1001K|CLIP1_ENST00000302528.7_Splice_Site_p.E1001K|CLIP1_ENST00000537178.1_Splice_Site_p.E966K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1012					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.E1001K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493																																						uc001ucg.1		NaN																	1	Substitution - Missense(1)		kidney(1)	ovary(2)|breast(1)	3						c.(3034-3036)GAA>AAA		restin isoform a							158.0	159.0	159.0					12																	122812709		2203	4300	6503	SO:0001630	splice_region_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812709C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3034-1G>A	12.37:g.122812709C>T						CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K	p.E1012K	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3140	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1012			Potential.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.3034G>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008438	0.35415	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.53640	2.7;0.63;0.63;0.61;0.66	5.35	5.35	0.76521	.	0.167889	0.52532	D	0.000067	T	0.30039	0.0752	N	0.21097	0.63	0.45837	D	0.998705	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.19946	0.027;0.004;0.006	T	0.11817	-1.0572	10	0.09843	T	0.71	-11.8769	9.7516	0.40478	0.0:0.8405:0.0:0.1595	.	966;1001;1012	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	K	587;1001;1001;731;43;966;1012	ENSP00000438743:E587K;ENSP00000303585:E1001K;ENSP00000351665:E1001K;ENSP00000445531:E966K;ENSP00000439093:E1012K	ENSP00000303585:E1001K	E	-	1	0	CLIP1	121378662	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.787000	0.47798	2.659000	0.90383	0.655000	0.94253	GAA		0.493	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956	Missense_Mutation	17	120	0	0	0	0.00874	0	17	120		
MPHOSPH9	10198	broad.mit.edu	37	12	123645694	123645694	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:123645694C>G	ENST00000606320.1	-	22	3576	c.3370G>C	c.(3370-3372)Gaa>Caa	p.E1124Q	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E972Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E1094Q|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E972Q			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1124						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E972*(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGGTCCTTTTCTTTTGTAAGT	0.343																																						uc001uel.2		NaN																	1	Substitution - Nonsense(1)		large_intestine(1)		0						c.(2914-2916)GAA>CAA		M-phase phosphoprotein 9							56.0	55.0	55.0					12																	123645694		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123645694C>G	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3370G>C	12.37:g.123645694C>G	ENSP00000475489:p.Glu1124Gln					MPHOSPH9_uc010tal.1_Missense_Mutation_p.E426Q|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E426Q	p.E972Q	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	18	3021	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		972			Potential.		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2914G>C		.	.	.	.	.	.	.	.	.	.	C	24.5	4.543669	0.86022	.	.	ENSG00000051825	ENST00000541603;ENST00000302349;ENST00000541076	T;T;T	0.69435	-0.4;0.07;-0.07	5.8	5.8	0.92144	.	0.135962	0.48767	D	0.000163	T	0.81992	0.4940	M	0.70275	2.135	0.58432	D	0.999998	D	0.89917	1.0	D	0.70016	0.967	T	0.82770	-0.0293	10	0.87932	D	0	-24.0215	20.0693	0.97712	0.0:1.0:0.0:0.0	.	972	Q99550	MPP9_HUMAN	Q	150;972;972	ENSP00000446362:E150Q;ENSP00000303597:E972Q;ENSP00000445859:E972Q	ENSP00000303597:E972Q	E	-	1	0	MPHOSPH9	122211647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.747000	0.68689	2.758000	0.94735	0.563000	0.77884	GAA		0.343	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2				16	34	0	0	0	0.004007	0	16	34		
MPHOSPH9	10198	broad.mit.edu	37	12	123645916	123645916	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:123645916C>T	ENST00000606320.1	-	22	3354	c.3148G>A	c.(3148-3150)Gag>Aag	p.E1050K	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E898K|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E1020K|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E898K			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1050						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTGGCTTTCTCAGAATAAGTT	0.373																																						uc001uel.2		NaN																	0					0						c.(2692-2694)GAG>AAG		M-phase phosphoprotein 9							117.0	118.0	118.0					12																	123645916		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123645916C>T	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3148G>A	12.37:g.123645916C>T	ENSP00000475489:p.Glu1050Lys					MPHOSPH9_uc010tal.1_Missense_Mutation_p.E352K|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Missense_Mutation_p.E352K	p.E898K	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	18	2799	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		898					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2692G>A		.	.	.	.	.	.	.	.	.	.	C	8.921	0.961122	0.18583	.	.	ENSG00000051825	ENST00000541603;ENST00000302349;ENST00000541076	T;T;T	0.44881	0.91;1.52;1.53	5.58	2.65	0.31530	.	0.367663	0.24722	N	0.036130	T	0.33760	0.0874	L	0.57536	1.79	0.09310	N	0.999992	P	0.36535	0.557	B	0.33620	0.167	T	0.17048	-1.0382	10	0.36615	T	0.2	-10.9777	7.9319	0.29907	0.1378:0.7385:0.0:0.1237	.	898	Q99550	MPP9_HUMAN	K	76;898;898	ENSP00000446362:E76K;ENSP00000303597:E898K;ENSP00000445859:E898K	ENSP00000303597:E898K	E	-	1	0	MPHOSPH9	122211869	0.157000	0.22836	0.008000	0.14137	0.056000	0.15407	0.728000	0.26013	1.298000	0.44778	0.563000	0.77884	GAG		0.373	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2				24	69	0	0	0	0.004656	0	24	69		
MPHOSPH9	10198	broad.mit.edu	37	12	123645931	123645931	+	Splice_Site	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:123645931C>G	ENST00000606320.1	-	22	3340		c.e22-1		MPHOSPH9_ENST00000302349.5_Splice_Site|MPHOSPH9_ENST00000541076.2_Splice_Site|MPHOSPH9_ENST00000392425.3_Splice_Site			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9							centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TAAGTTTTTTCTGTCAGAGAG	0.368																																						uc001uel.2		NaN																	0					0						c.e18-1		M-phase phosphoprotein 9							102.0	106.0	104.0					12																	123645931		2203	4300	6503	SO:0001630	splice_region_variant	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123645931C>G	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3134-1G>C	12.37:g.123645931C>G						MPHOSPH9_uc010tal.1_Splice_Site_p.E347_splice|MPHOSPH9_uc010tam.1_Splice_Site|MPHOSPH9_uc001uem.2_Splice_Site_p.E347_splice	p.E893_splice	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	18	2785	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)							A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Splice_Site	SNP	ENST00000606320.1	37	c.2678_splice		.	.	.	.	.	.	.	.	.	.	C	9.378	1.072246	0.20147	.	.	ENSG00000051825	ENST00000541603;ENST00000302349;ENST00000541076	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0244	0.64577	0.0:0.8489:0.1511:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MPHOSPH9	122211884	1.000000	0.71417	0.989000	0.46669	0.098000	0.18820	5.029000	0.64121	2.589000	0.87451	0.563000	0.77884	.		0.368	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			Intron	23	61	0	0	0	0.003954	0	23	61		
CENPJ	55835	broad.mit.edu	37	13	25484207	25484207	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:25484207C>T	ENST00000381884.4	-	4	771	c.586G>A	c.(586-588)Gat>Aat	p.D196N	CENPJ_ENST00000545981.1_Missense_Mutation_p.D196N	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	196					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCTGATCATCAGGCAGTAAA	0.478																																						uc001upt.3		NaN																	0				ovary(2)	2						c.(586-588)GAT>AAT		centromere protein J							90.0	93.0	92.0					13																	25484207		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25484207C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.586G>A	13.37:g.25484207C>T	ENSP00000371308:p.Asp196Asn					CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	p.D196N	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	4	839	-		Lung SC(185;0.0225)|Breast(139;0.0602)	196					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.586G>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587865	0.46110	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.18016	2.24;2.24	5.06	4.21	0.49690	.	0.378813	0.25570	N	0.029768	T	0.15609	0.0376	L	0.50919	1.6	0.26773	N	0.969761	B	0.30664	0.289	B	0.26517	0.07	T	0.15122	-1.0448	10	0.66056	D	0.02	.	9.1785	0.37127	0.0:0.9025:0.0:0.0975	.	196	Q9HC77	CENPJ_HUMAN	N	196	ENSP00000371308:D196N;ENSP00000441090:D196N	ENSP00000371308:D196N	D	-	1	0	CENPJ	24382207	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	1.982000	0.40638	1.366000	0.46076	0.561000	0.74099	GAT		0.478	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1		NM_018451		50	59	0	0	0	0.01441	0	50	59		
LPAR6	10161	broad.mit.edu	37	13	48985570	48985570	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:48985570T>C	ENST00000378434.4	-	7	2614	c.990A>G	c.(988-990)ctA>ctG	p.L330L	LPAR6_ENST00000345941.2_Silent_p.L330L|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	330						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TTAAGGTCTGTAGGTTATGCT	0.358																																						uc010acu.2		NaN																	19	Whole gene deletion(15)|Unknown(4)	p.?(4)	bone(10)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	ovary(4)	4						c.(988-990)CTA>CTG		G-protein coupled purinergic receptor P2Y5							83.0	89.0	87.0					13																	48985570		2203	4300	6503	SO:0001819	synonymous_variant	10161					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:48985570T>C	AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.990A>G	13.37:g.48985570T>C						RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Silent_p.L330L|LPAR6_uc001vcf.2_Silent_p.L330L	p.L330L	NM_001162498	NP_001155970	P43657	LPAR6_HUMAN			1	2084	-			330			Cytoplasmic (Potential).		A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Silent	SNP	ENST00000378434.4	37	c.990A>G	CCDS9410.1																																																																																				0.358	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2		NM_005767		66	22	0	0	0	0.01441	0	66	22		
PCDH9	5101	broad.mit.edu	37	13	67799881	67799881	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:67799881C>T	ENST00000377865.2	-	1	2826	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K	PCDH9_ENST00000328454.5_Missense_Mutation_p.E898K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E898K|PCDH9_ENST00000377861.3_Missense_Mutation_p.E898K|PCDH9_ENST00000544246.1_Missense_Mutation_p.E898K			Q9HC56	PCDH9_HUMAN	protocadherin 9	898					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTGATAGGTTCATGAACTGCA	0.438																																						uc001vik.2		NaN																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(2692-2694)GAA>AAA		protocadherin 9 isoform 1 precursor							105.0	107.0	106.0					13																	67799881		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67799881C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2692G>A	13.37:g.67799881C>T	ENSP00000367096:p.Glu898Lys					PCDH9_uc001vil.2_Missense_Mutation_p.E898K|PCDH9_uc010thl.1_Missense_Mutation_p.E898K|PCDH9_uc001vin.3_Missense_Mutation_p.E898K	p.E898K	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3384	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	898			Cytoplasmic (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.2692G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763769	0.31228	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.73	5.73	0.89815	Protocadherin (1);	0.051341	0.85682	D	0.000000	T	0.49474	0.1559	L	0.53249	1.67	0.58432	D	0.999997	D;D;D;D	0.60575	0.988;0.975;0.984;0.988	D;P;P;D	0.65140	0.932;0.843;0.888;0.932	T	0.16482	-1.0401	10	0.17369	T	0.5	.	19.8955	0.96956	0.0:1.0:0.0:0.0	.	898;898;898;898	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	K	898	ENSP00000442186:E898K;ENSP00000367096:E898K;ENSP00000401699:E898K;ENSP00000332060:E898K;ENSP00000367092:E898K	ENSP00000332060:E898K	E	-	1	0	PCDH9	66697882	1.000000	0.71417	0.993000	0.49108	0.927000	0.56198	4.846000	0.62860	2.711000	0.92665	0.561000	0.74099	GAA		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1		NM_203487		82	113	0	0	0	0.01441	0	82	113		
PCDH9	5101	broad.mit.edu	37	13	67800603	67800603	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:67800603G>C	ENST00000377865.2	-	1	2104	c.1970C>G	c.(1969-1971)tCt>tGt	p.S657C	PCDH9_ENST00000328454.5_Missense_Mutation_p.S657C|PCDH9_ENST00000456367.1_Missense_Mutation_p.S657C|PCDH9_ENST00000377861.3_Missense_Mutation_p.S657C|PCDH9_ENST00000544246.1_Missense_Mutation_p.S657C			Q9HC56	PCDH9_HUMAN	protocadherin 9	657	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTTGCAGTAGAGGAACGAGG	0.438																																						uc001vik.2		NaN																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1969-1971)TCT>TGT		protocadherin 9 isoform 1 precursor							113.0	98.0	103.0					13																	67800603		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67800603G>C	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1970C>G	13.37:g.67800603G>C	ENSP00000367096:p.Ser657Cys					PCDH9_uc001vil.2_Missense_Mutation_p.S657C|PCDH9_uc010thl.1_Missense_Mutation_p.S657C|PCDH9_uc001vin.3_Missense_Mutation_p.S657C	p.S657C	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2662	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	657			Extracellular (Potential).|Cadherin 6.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1970C>G	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590349	0.86851	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.4	5.4	0.78164	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79724	0.4495	M	0.91561	3.22	0.80722	D	1	D;D;D;D	0.89917	0.965;1.0;1.0;1.0	D;D;D;D	0.97110	0.925;1.0;1.0;1.0	D	0.83705	0.0184	10	0.87932	D	0	.	19.3757	0.94508	0.0:0.0:1.0:0.0	.	657;657;657;657	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	C	657	ENSP00000442186:S657C;ENSP00000367096:S657C;ENSP00000401699:S657C;ENSP00000332060:S657C;ENSP00000367092:S657C	ENSP00000332060:S657C	S	-	2	0	PCDH9	66698604	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.814000	0.96858	0.655000	0.94253	TCT		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1		NM_203487		41	137	0	0	0	0.006999	0	41	137		
SLITRK1	114798	broad.mit.edu	37	13	84455102	84455102	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:84455102G>A	ENST00000377084.2	-	1	1426	c.541C>T	c.(541-543)Cac>Tac	p.H181Y		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	181					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGGTCGAGGTGGGTGATGGGC	0.537																																						uc001vlk.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(541-543)CAC>TAC		slit and trk like 1 protein precursor							92.0	91.0	92.0					13																	84455102		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455102G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.541C>T	13.37:g.84455102G>A	ENSP00000366288:p.His181Tyr						p.H181Y	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1427	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	181			Extracellular (Potential).|LRR 6.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.541C>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282979	0.40394	.	.	ENSG00000178235	ENST00000377084	T	0.56776	0.44	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	L	0.33293	1	0.58432	D	0.999999	P	0.50710	0.938	D	0.67382	0.951	T	0.49854	-0.8895	10	0.12430	T	0.62	-13.3176	15.8282	0.78730	0.0:0.0:1.0:0.0	.	181	Q96PX8	SLIK1_HUMAN	Y	181	ENSP00000366288:H181Y	ENSP00000366288:H181Y	H	-	1	0	SLITRK1	83353103	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.657000	0.98554	2.310000	0.77875	0.561000	0.74099	CAC		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1		NM_052910		55	97	0	0	0	0.01441	0	55	97		
GPC5	2262	broad.mit.edu	37	13	92345689	92345689	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:92345689G>A	ENST00000377067.3	+	3	946	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	192					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGAATACTCAGAATGCATCCG	0.483																																						uc010tif.1		NaN																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(574-576)GAA>AAA		glypican 5 precursor							98.0	97.0	97.0					13																	92345689		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345689G>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.574G>A	13.37:g.92345689G>A	ENSP00000366267:p.Glu192Lys						p.E192K	NM_004466	NP_004457	P78333	GPC5_HUMAN			3	940	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	192					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.574G>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215465	0.95104	.	.	ENSG00000179399	ENST00000377067	T	0.56611	0.45	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	M	0.75615	2.305	0.58432	D	0.99999	P	0.51653	0.947	P	0.62740	0.906	T	0.75690	-0.3230	10	0.87932	D	0	.	17.4374	0.87555	0.0:0.0:1.0:0.0	.	192	P78333	GPC5_HUMAN	K	192	ENSP00000366267:E192K	ENSP00000366267:E192K	E	+	1	0	GPC5	91143690	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	6.720000	0.74723	2.351000	0.79841	0.467000	0.42956	GAA		0.483	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1		NM_004466		57	111	0	0	0	0.01441	0	57	111		
FARP1	10160	broad.mit.edu	37	13	99083499	99083499	+	Missense_Mutation	SNP	A	A	C	rs201729016		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:99083499A>C	ENST00000319562.6	+	18	2373	c.2108A>C	c.(2107-2109)cAc>cCc	p.H703P	FARP1_ENST00000595437.1_Missense_Mutation_p.H703P|FARP1_ENST00000376586.2_Missense_Mutation_p.H703P	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	703	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGCAAACACCACCCGCCGAGC	0.647																																						uc001vnj.2		NaN																	0				breast(2)	2						c.(2107-2109)CAC>CCC		FERM, RhoGEF, and pleckstrin domain protein 1							14.0	14.0	14.0					13																	99083499		2201	4296	6497	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99083499A>C	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2108A>C	13.37:g.99083499A>C	ENSP00000322926:p.His703Pro					FARP1_uc001vnh.2_Missense_Mutation_p.H703P	p.H703P	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		18	2444	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		703			DH.		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.2108A>C	CCDS9487.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.87|15.87	2.961184|2.961184	0.53400|0.53400	.|.	.|.	ENSG00000152767|ENSG00000152767	ENST00000376586;ENST00000319562|ENST00000423063	T;T|.	0.62788|.	-0.0;-0.0|.	5.58|5.58	4.4|4.4	0.53042|0.53042	Dbl homology (DH) domain (5);|.	0.126644|.	0.56097|.	D|.	0.000036|.	T|T	0.34629|0.34629	0.0904|0.0904	N|N	0.08118|0.08118	0|0	0.46823|0.46823	D|D	0.999218|0.999218	B;B|.	0.29378|.	0.243;0.0|.	B;B|.	0.28385|.	0.089;0.002|.	T|T	0.11397|0.11397	-1.0589|-1.0589	10|5	0.87932|.	D|.	0|.	.|.	11.2934|11.2934	0.49263|0.49263	0.9285:0.0:0.0715:0.0|0.9285:0.0:0.0715:0.0	.|.	703;703|.	Q9Y4F1;C9JME2|.	FARP1_HUMAN;.|.	P|P	703|6	ENSP00000365771:H703P;ENSP00000322926:H703P|.	ENSP00000322926:H703P|.	H|T	+|+	2|1	0|0	FARP1|FARP1	97881500|97881500	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.791000|0.791000	0.44710|0.44710	5.843000|5.843000	0.69424|0.69424	0.943000|0.943000	0.37553|0.37553	0.454000|0.454000	0.30748|0.30748	CAC|ACC		0.647	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3		NM_005766		4	10	0	0	0	0.006214	0	4	10		
ZIC2	7546	broad.mit.edu	37	13	100634397	100634397	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:100634397G>A	ENST00000376335.3	+	1	372	c.79G>A	c.(79-81)Gcg>Acg	p.A27T		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	27	Poly-Ala.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTccgccgcggcggcggcggc	0.756																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.2		NaN																	0					0						c.(79-81)GCG>ACG		zinc finger protein of the cerebellum 2							3.0	3.0	3.0					13																	100634397		934	2216	3150	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100634397G>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.79G>A	13.37:g.100634397G>A	ENSP00000365514:p.Ala27Thr						p.A27T	NM_007129	NP_009060	O95409	ZIC2_HUMAN			1	79	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		27			Poly-Ala.		Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.79G>A	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050535	0.75960	.	.	ENSG00000043355	ENST00000376335;ENST00000425702	T	0.12255	2.7	3.12	3.12	0.35913	.	0.000000	0.47852	D	0.000210	T	0.12008	0.0292	N	0.08118	0	0.34967	D	0.752784	D	0.57571	0.98	P	0.57009	0.811	T	0.27123	-1.0083	10	0.16420	T	0.52	.	12.0414	0.53454	0.0:0.0:1.0:0.0	.	27	O95409	ZIC2_HUMAN	T	27	ENSP00000365514:A27T	ENSP00000365514:A27T	A	+	1	0	ZIC2	99432398	0.991000	0.36638	0.980000	0.43619	0.473000	0.32948	4.001000	0.57046	1.737000	0.51674	0.455000	0.32223	GCG		0.756	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2		NM_007129		4	4	0	0	0	0.014758	0	4	4		
MYO16	23026	broad.mit.edu	37	13	109858981	109858981	+	Missense_Mutation	SNP	G	G	C	rs200431066		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:109858981G>C	ENST00000357550.2	+	34	5415	c.5374G>C	c.(5374-5376)Gag>Cag	p.E1792Q	MYO16_ENST00000356711.2_Missense_Mutation_p.E1792Q	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)			GAGGCTCTCAGAGAATGAAAG	0.512																																						uc001vqt.1		NaN																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(5374-5376)GAG>CAG		myosin heavy chain Myr 8							80.0	76.0	77.0					13																	109858981		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.chr13:109858981G>C		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.5374G>C	13.37:g.109858981G>C	ENSP00000350160:p.Glu1792Gln					MYO16_uc010agk.1_Missense_Mutation_p.E1814Q	p.E1792Q	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		35	5500	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1792						Missense_Mutation	SNP	ENST00000357550.2	37	c.5374G>C	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125558	0.56721	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	D;D	0.82526	-1.62;-1.62	4.86	4.86	0.63082	.	0.000000	0.40818	U	0.001003	T	0.80303	0.4598	L	0.59436	1.845	0.80722	D	1	P	0.44734	0.842	B	0.40165	0.321	T	0.80921	-0.1166	9	.	.	.	.	15.1861	0.73002	0.0:0.0:1.0:0.0	.	1792	Q9Y6X6	MYO16_HUMAN	Q	1792	ENSP00000349145:E1792Q;ENSP00000350160:E1792Q	.	E	+	1	0	MYO16	108656982	0.999000	0.42202	0.957000	0.39632	0.932000	0.56968	3.321000	0.51999	2.248000	0.74166	0.563000	0.77884	GAG		0.512	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1		NM_015011		18	100	0	0	0	0.00499	0	18	100		
IRS2	8660	broad.mit.edu	37	13	110434606	110434606	+	Silent	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:110434606T>G	ENST00000375856.3	-	1	4309	c.3795A>C	c.(3793-3795)ccA>ccC	p.P1265P		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1265	Poly-Pro.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			gcggctggggtggcagcCCGG	0.701																																					Melanoma(100;613 2409 40847)	uc001vqv.2		NaN																	0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8						c.(3793-3795)CCA>CCC		insulin receptor substrate 2							7.0	9.0	8.0					13																	110434606		1938	3917	5855	SO:0001819	synonymous_variant	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110434606T>G	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3795A>C	13.37:g.110434606T>G							p.P1265P	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	4309	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1265			Poly-Pro.		Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	c.3795A>C	CCDS9510.1																																																																																				0.701	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1		NM_003749		11	24	0	0	0	0.007413	0	11	24		
ARHGAP5	394	broad.mit.edu	37	14	32562753	32562753	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:32562753C>G	ENST00000345122.3	+	2	3193	c.2878C>G	c.(2878-2880)Caa>Gaa	p.Q960E	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.Q960E|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.Q960E|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.Q960E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	960					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCAACCCATCAAAGTGAAGA	0.358																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(2878-2880)CAA>GAA		Rho GTPase activating protein 5 isoform b							50.0	50.0	50.0					14																	32562753		2203	4299	6502	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32562753C>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.2878C>G	14.37:g.32562753C>G	ENSP00000371897:p.Gln960Glu					ARHGAP5_uc001wrm.2_Missense_Mutation_p.Q960E|ARHGAP5_uc001wrn.2_Missense_Mutation_p.Q960E|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.Q960E	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	3117	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		960					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.2878C>G	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.385686	0.01194	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.07688	3.17;3.17;3.17;3.17	5.66	5.66	0.87406	.	0.324102	0.36854	N	0.002380	T	0.06826	0.0174	N	0.22421	0.69	0.28335	N	0.921595	B;B	0.09022	0.002;0.001	B;B	0.13407	0.009;0.007	T	0.26467	-1.0102	10	0.17832	T	0.49	.	14.8201	0.70065	0.1774:0.8226:0.0:0.0	.	960;960	Q13017-2;Q13017	.;RHG05_HUMAN	E	960	ENSP00000452222:Q960E;ENSP00000441692:Q960E;ENSP00000371897:Q960E;ENSP00000393307:Q960E	ENSP00000371897:Q960E	Q	+	1	0	ARHGAP5	31632504	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.732000	0.55021	2.831000	0.97527	0.650000	0.86243	CAA		0.358	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1		NM_001030055		53	44	0	0	0	0.01441	0	53	44		
INSM2	84684	broad.mit.edu	37	14	36004326	36004326	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:36004326G>C	ENST00000307169.3	+	1	1079	c.868G>C	c.(868-870)Gag>Cag	p.E290Q		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CGTGCGCGTAGAGTACCGCTG	0.672																																						uc001wth.1		NaN																	0				lung(1)|skin(1)	2						c.(868-870)GAG>CAG		insulinoma-associated protein IA-6							33.0	34.0	34.0					14																	36004326		2203	4296	6499	SO:0001583	missense	84684				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36004326G>C	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.868G>C	14.37:g.36004326G>C	ENSP00000306523:p.Glu290Gln						p.E290Q	NM_032594	NP_115983	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	1079	+	Breast(36;0.122)|Hepatocellular(127;0.158)		290					A1L432|J9Y024|Q8N8K7|Q96Q84	Missense_Mutation	SNP	ENST00000307169.3	37	c.868G>C	CCDS9657.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574384	0.86542	.	.	ENSG00000168348	ENST00000307169	T	0.27890	1.64	4.95	4.95	0.65309	.	0.000000	0.32548	N	0.005942	T	0.51736	0.1692	M	0.62723	1.935	0.80722	D	1	D	0.62365	0.991	D	0.64237	0.923	T	0.54957	-0.8215	10	0.66056	D	0.02	-27.3087	16.9569	0.86262	0.0:0.0:1.0:0.0	.	290	Q96T92	INSM2_HUMAN	Q	290	ENSP00000306523:E290Q	ENSP00000306523:E290Q	E	+	1	0	INSM2	35074077	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.451000	0.97610	2.269000	0.75478	0.563000	0.77884	GAG		0.672	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1				21	27	0	0	0	0.010504	0	21	27		
KLHL28	54813	broad.mit.edu	37	14	45414407	45414407	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:45414407T>C	ENST00000396128.4	-	2	844	c.725A>G	c.(724-726)cAt>cGt	p.H242R	KLHL28_ENST00000355081.2_Missense_Mutation_p.H256R	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	242										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACGAATAAGATGATTTGCTTC	0.373																																						uc001wvq.2		NaN																	0				ovary(1)	1						c.(724-726)CAT>CGT		BTB (POZ) domain containing 5							134.0	120.0	125.0					14																	45414407		2203	4300	6503	SO:0001583	missense	54813							g.chr14:45414407T>C	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.725A>G	14.37:g.45414407T>C	ENSP00000379434:p.His242Arg					KLHL28_uc001wvr.2_Missense_Mutation_p.H242R|KLHL28_uc001wvt.3_Missense_Mutation_p.H242R	p.H242R	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN			2	971	-			242					Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.725A>G	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384909	0.25031	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.66460	-0.21;-0.19	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	N	0.19112	0.55	0.58432	D	0.999997	B;B	0.27625	0.122;0.183	B;B	0.17722	0.018;0.019	T	0.47100	-0.9143	10	0.16896	T	0.51	.	15.4695	0.75429	0.0:0.0:0.0:1.0	.	242;242	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	R	242;256	ENSP00000379434:H242R;ENSP00000347193:H256R	ENSP00000347193:H256R	H	-	2	0	KLHL28	44484157	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.627000	0.83176	2.139000	0.66308	0.459000	0.35465	CAT		0.373	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3				24	66	0	0	0	0.016522	0	24	66		
HSPA2	3306	broad.mit.edu	37	14	65008896	65008896	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:65008896G>A	ENST00000394709.1	+	2	1405	c.1329G>A	c.(1327-1329)gtG>gtA	p.V443V	HSPA2_ENST00000247207.6_Silent_p.V443V|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	443					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GCGTACTGGTGCAGGTATACG	0.607																																					Pancreas(136;1211 1835 24894 31984 38227)	uc001xhj.2		NaN																	0				skin(1)	1						c.(1327-1329)GTG>GTA		heat shock 70kDa protein 2							76.0	70.0	72.0					14																	65008896		2203	4300	6503	SO:0001819	synonymous_variant	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008896G>A	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1329G>A	14.37:g.65008896G>A						HSPA2_uc001xhk.3_Silent_p.V443V	p.V443V	NM_021979	NP_068814	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	2	1405	+			443					Q15508|Q53XM3|Q9UE78	Silent	SNP	ENST00000394709.1	37	c.1329G>A	CCDS9766.1																																																																																				0.607	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1				13	82	0	0	0	0.013537	0	13	82		
PLEKHG3	26030	broad.mit.edu	37	14	65197646	65197646	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:65197646C>G	ENST00000394691.1	+	6	843	c.696C>G	c.(694-696)ctC>ctG	p.L232L	PLEKHG3_ENST00000247226.7_Silent_p.L176L			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	232	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCGCATCCTCAAGTACCACC	0.642																																						uc001xho.1		NaN																	0				skin(1)	1						c.(694-696)CTC>CTG		pleckstrin homology domain containing, family G,							50.0	52.0	52.0					14																	65197646		2203	4300	6503	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65197646C>G	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.696C>G	14.37:g.65197646C>G						PLEKHG3_uc001xhn.1_Silent_p.L176L|PLEKHG3_uc001xhp.2_Silent_p.L232L|PLEKHG3_uc010aqh.1_5'UTR	p.L232L	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	6	965	+			232			DH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.696C>G																																																																																					0.642	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1		NM_015549		21	66	0	0	0	0.010504	0	21	66		
MPP5	64398	broad.mit.edu	37	14	67787792	67787792	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:67787792G>A	ENST00000261681.4	+	13	2217	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	MPP5_ENST00000555925.1_Missense_Mutation_p.R485Q|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	519	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CGGAGTAGGCGAGACCAAGAA	0.448																																						uc001xjc.2		NaN																	0				ovary(1)	1						c.(1555-1557)CGA>CAA		membrane protein, palmitoylated 5							102.0	96.0	98.0					14																	67787792		2203	4300	6503	SO:0001583	missense	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67787792G>A	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1556G>A	14.37:g.67787792G>A	ENSP00000261681:p.Arg519Gln					MPP5_uc001xjd.2_Missense_Mutation_p.R485Q|ATP6V1D_uc001xje.2_Intron	p.R519Q	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	13	2022	+			519			Guanylate kinase-like.		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	c.1556G>A	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905301	0.92035	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.38722	1.12;1.12	4.97	4.97	0.65823	Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	M	0.88377	2.95	0.80722	D	1	D	0.53312	0.959	P	0.48795	0.59	T	0.72754	-0.4198	10	0.87932	D	0	.	18.6054	0.91264	0.0:0.0:1.0:0.0	.	519	Q8N3R9	MPP5_HUMAN	Q	519;485	ENSP00000261681:R519Q;ENSP00000451488:R485Q	ENSP00000261681:R519Q	R	+	2	0	MPP5	66857545	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.658000	0.98594	2.433000	0.82419	0.655000	0.94253	CGA		0.448	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1		NM_022474		39	71	0	0	0	0.00623	0	39	71		
GOLGA5	9950	broad.mit.edu	37	14	93273263	93273263	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:93273263C>G	ENST00000163416.2	+	3	983	c.727C>G	c.(727-729)Caa>Gaa	p.Q243E	GOLGA5_ENST00000355976.2_Missense_Mutation_p.Q243E	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	243					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GTCTTTAAATCAAGAAATGGC	0.383			T	RET	papillary thyroid																																	uc001yaz.1		NaN		Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		0				ovary(2)|lung(1)	3						c.(727-729)CAA>GAA		Golgi autoantigen, golgin subfamily a, 5							86.0	81.0	83.0					14																	93273263		2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93273263C>G	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.727C>G	14.37:g.93273263C>G	ENSP00000163416:p.Gln243Glu						p.Q243E	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	3	909	+		all_cancers(154;0.0934)	243			Cytoplasmic (Potential).|Potential.		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.727C>G	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232920	0.58777	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.51071	0.72;0.72	5.55	5.55	0.83447	.	0.000000	0.45361	D	0.000379	T	0.48447	0.1500	L	0.49126	1.545	0.53688	D	0.99997	B	0.27264	0.173	B	0.31245	0.126	T	0.35276	-0.9795	10	0.32370	T	0.25	-17.699	19.8769	0.96880	0.0:1.0:0.0:0.0	.	243	Q8TBA6	GOGA5_HUMAN	E	243;243;152	ENSP00000163416:Q243E;ENSP00000348252:Q243E	ENSP00000163416:Q243E	Q	+	1	0	GOLGA5	92343016	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.208000	0.58486	2.767000	0.95098	0.557000	0.71058	CAA		0.383	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1				14	70	0	0	0	0.016723	0	14	70		
UNC79	57578	broad.mit.edu	37	14	94156520	94156520	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:94156520G>A	ENST00000393151.2	+	46	7260	c.7260G>A	c.(7258-7260)ctG>ctA	p.L2420L	UNC79_ENST00000555664.1_Silent_p.L2381L|UNC79_ENST00000553484.1_Silent_p.L2442L|UNC79_ENST00000256339.4_Silent_p.L2243L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2420					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGCTGCTGCTGGGTTCCCTCA	0.473																																						uc001ybv.1		NaN																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(6793-6795)CTG>CTA		hypothetical protein LOC57578							194.0	165.0	175.0					14																	94156520		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94156520G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7260G>A	14.37:g.94156520G>A						KIAA1409_uc001ybs.1_Silent_p.L2243L	p.L2265L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	44	6878	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	2420					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.6795G>A																																																																																					0.473	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1		XM_028395		41	63	0	0	0	0.006999	0	41	63		
DDX24	57062	broad.mit.edu	37	14	94528602	94528602	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:94528602C>T	ENST00000330836.5	-	3	1215	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	DDX24_ENST00000555054.1_Missense_Mutation_p.D319N|DDX24_ENST00000544005.1_Missense_Mutation_p.D112N	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	362	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TGCTCTTTATCAAGATTTTCC	0.483																																						uc001ycj.2		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1084-1086)GAT>AAT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 24							156.0	142.0	147.0					14																	94528602		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94528602C>T	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1084G>A	14.37:g.94528602C>T	ENSP00000328690:p.Asp362Asn					DDX24_uc010twq.1_Missense_Mutation_p.D319N|DDX24_uc010twr.1_Missense_Mutation_p.D112N	p.D362N	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	3	1183	-		all_cancers(154;0.12)	362			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.1084G>A	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890776	0.33348	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000555054;ENST00000542247	T;T;T	0.03358	4.04;3.96;4.04	5.49	2.38	0.29361	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	1.005090	0.07989	N	0.986766	T	0.02455	0.0075	N	0.14661	0.345	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.49495	-0.8934	10	0.28530	T	0.3	-18.8098	3.1277	0.06413	0.1685:0.5505:0.1143:0.1668	.	362	Q9GZR7	DDX24_HUMAN	N	362;112;307;319;319	ENSP00000328690:D362N;ENSP00000440623:D112N;ENSP00000452145:D319N	ENSP00000328690:D362N	D	-	1	0	DDX24	93598355	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	0.467000	0.22035	0.250000	0.21479	0.655000	0.94253	GAT		0.483	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1		NM_020414		50	105	0	0	0	0.01441	0	50	105		
EML1	2009	broad.mit.edu	37	14	100380990	100380990	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:100380990T>C	ENST00000262233.6	+	15	1847	c.1708T>C	c.(1708-1710)Tgg>Cgg	p.W570R	EML1_ENST00000327921.9_Missense_Mutation_p.W558R|EML1_ENST00000334192.4_Missense_Mutation_p.W589R	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	570	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGCCACTCTCTGGGACGCTGT	0.463																																						uc001ygs.2		NaN																	0				large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5						c.(1708-1710)TGG>CGG		echinoderm microtubule associated protein like 1							71.0	63.0	66.0					14																	100380990		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100380990T>C	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1708T>C	14.37:g.100380990T>C	ENSP00000262233:p.Trp570Arg					EML1_uc010tww.1_Missense_Mutation_p.W558R|EML1_uc001ygr.2_Missense_Mutation_p.W589R	p.W570R	NM_004434	NP_004425	O00423	EMAL1_HUMAN			15	1777	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	570			WD 6.		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.1708T>C	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548186	0.86022	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	D;D;D	0.83506	-1.73;-1.73;-1.73	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	H	0.99590	4.645	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.982;0.999	D	0.97362	0.9970	10	0.87932	D	0	-14.6635	14.9706	0.71232	0.0:0.0:0.0:1.0	.	558;570;589	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	R	558;570;589;589	ENSP00000327384:W558R;ENSP00000262233:W570R;ENSP00000334314:W589R	ENSP00000262233:W570R	W	+	1	0	EML1	99450743	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.853000	0.86934	1.941000	0.56285	0.533000	0.62120	TGG		0.463	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1		NM_001008707		18	36	0	0	0	0.00499	0	18	36		
CDC42BPB	9578	broad.mit.edu	37	14	103465928	103465928	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:103465928G>A	ENST00000361246.2	-	5	858	c.570C>T	c.(568-570)tcC>tcT	p.S190S		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCTGATGGATGGAGTCAATGG	0.448																																						uc001ymi.1		NaN																	0				large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(568-570)TCC>TCT		CDC42-binding protein kinase beta							140.0	125.0	130.0					14																	103465928		2203	4300	6503	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103465928G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.570C>T	14.37:g.103465928G>A							p.S190S	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	5	802	-		Melanoma(154;0.155)	190			Protein kinase.			Silent	SNP	ENST00000361246.2	37	c.570C>T	CCDS9978.1																																																																																				0.448	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1		NM_006035		54	85	0	0	0	0.01441	0	54	85		
XRCC3	7517	broad.mit.edu	37	14	104165252	104165252	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:104165252G>A	ENST00000553264.1	-	8	1720	c.924C>T	c.(922-924)ctC>ctT	p.L308L	XRCC3_ENST00000352127.7_Silent_p.L308L|KLC1_ENST00000555836.1_Intron|KLC1_ENST00000334553.6_Intron|KLC1_ENST00000554280.1_Intron|XRCC3_ENST00000555055.1_Silent_p.L308L|RP11-73M18.8_ENST00000602422.1_RNA|KLC1_ENST00000557450.1_Intron|XRCC3_ENST00000554974.1_Silent_p.L103L|KLC1_ENST00000452929.2_Intron|XRCC3_ENST00000554913.1_Silent_p.L308L|KLC1_ENST00000348520.6_Intron|XRCC3_ENST00000445556.1_Silent_p.L308L			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	308					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		CTGGGCAGCCGAGGGCAGCCT	0.672								Direct reversal of damage;Homologous recombination																														uc001yny.3		NaN																	0					0						c.(922-924)CTC>CTT	Direct_reversal_of_damage|Homologous_recombination	X-ray repair cross complementing protein 3							14.0	16.0	15.0					14																	104165252		2195	4292	6487	SO:0001819	synonymous_variant	7517				DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:104165252G>A	AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"""RAD51-like"""	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.924C>T	14.37:g.104165252G>A						KLC1_uc010tyf.1_Intron|KLC1_uc001yno.2_Intron|KLC1_uc001yns.2_Intron|XRCC3_uc001ynx.3_Silent_p.L308L|XRCC3_uc001ynz.3_Silent_p.L308L|XRCC3_uc001yoa.3_Silent_p.L308L	p.L308L	NM_005432	NP_005423	O43542	XRCC3_HUMAN		Epithelial(152;0.239)	10	1304	-		Melanoma(154;0.155)|all_epithelial(191;0.19)	308					O43568|Q9BU18	Silent	SNP	ENST00000553264.1	37	c.924C>T	CCDS9984.1																																																																																				0.672	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1		NM_005432		7	5	0	0	0	0.001984	0	7	5		
CEP170B	283638	broad.mit.edu	37	14	105360120	105360120	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:105360120T>C	ENST00000414716.3	+	16	4433	c.4205T>C	c.(4204-4206)cTg>cCg	p.L1402P	CEP170B_ENST00000453495.1_Missense_Mutation_p.L1438P|CEP170B_ENST00000556508.1_Missense_Mutation_p.L1367P|CEP170B_ENST00000418279.1_Missense_Mutation_p.L1332P	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1437						cytoplasm (GO:0005737)|microtubule (GO:0005874)											AACCTGATGCTGAACCCGGTG	0.657																																						uc010axb.2		NaN																	0				breast(1)	1						c.(4204-4206)CTG>CCG		hypothetical protein LOC283638 isoform 1							44.0	48.0	47.0					14																	105360120		2064	4191	6255	SO:0001583	missense	283638					cytoplasm|microtubule		g.chr14:105360120T>C	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4205T>C	14.37:g.105360120T>C	ENSP00000404151:p.Leu1402Pro					INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.L1332P|KIAA0284_uc001yps.2_Missense_Mutation_p.L1343P|KIAA0284_uc001ypt.2_Missense_Mutation_p.L70P	p.L1402P	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	16	4429	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1437					Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.4205T>C	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.359298	0.61403	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	T;T;T;T	0.70045	-0.17;-0.45;-0.38;-0.19	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000011	T	0.79587	0.4471	M	0.66939	2.045	0.80722	D	1	P;B;D	0.89917	0.78;0.022;1.0	B;B;D	0.91635	0.345;0.011;0.999	T	0.82147	-0.0601	10	0.87932	D	0	-22.8714	13.7845	0.63102	0.0:0.0:0.0:1.0	.	1402;1437;1332	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	P	1367;1402;1438;1332;70	ENSP00000451249:L1367P;ENSP00000404151:L1402P;ENSP00000407238:L1438P;ENSP00000415006:L1332P	ENSP00000251181:L54P	L	+	2	0	KIAA0284	104431165	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.055000	0.71103	1.744000	0.51775	0.358000	0.22013	CTG		0.657	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2		NM_001112726		10	12	0	0	0	0.006214	0	10	12		
CDCA4	55038	broad.mit.edu	37	14	105477759	105477759	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:105477759C>G	ENST00000336219.3	-	2	663	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	CDCA4_ENST00000392590.3_Missense_Mutation_p.E170Q	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	170						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TTTTTAGTCTCCAGCGTTTCA	0.547																																						uc001yqa.2		NaN																	0				ovary(1)	1						c.(508-510)GAG>CAG		cell division cycle associated 4							88.0	86.0	87.0					14																	105477759		2203	4300	6503	SO:0001583	missense	55038					nucleus		g.chr14:105477759C>G	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.508G>C	14.37:g.105477759C>G	ENSP00000337226:p.Glu170Gln					CDCA4_uc001yqb.2_Missense_Mutation_p.E170Q	p.E170Q	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	2	604	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	170					Q8TB18|Q9NWK7	Missense_Mutation	SNP	ENST00000336219.3	37	c.508G>C	CCDS9996.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118838	0.77323	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.44083	0.93;0.93	4.62	4.62	0.57501	.	0.052389	0.85682	D	0.000000	T	0.61236	0.2331	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	P	0.59761	0.863	T	0.66368	-0.5941	10	0.56958	D	0.05	-2.35	16.8744	0.86047	0.0:1.0:0.0:0.0	.	170	Q9BXL8	CDCA4_HUMAN	Q	170	ENSP00000337226:E170Q;ENSP00000376369:E170Q	ENSP00000337226:E170Q	E	-	1	0	CDCA4	104548804	1.000000	0.71417	0.984000	0.44739	0.636000	0.38137	7.347000	0.79356	2.288000	0.76882	0.650000	0.86243	GAG		0.547	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1		NM_145701		7	70	0	0	0	0.004482	0	7	70		
BRF1	2972	broad.mit.edu	37	14	105685546	105685546	+	Silent	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr14:105685546G>C	ENST00000546474.1	-	13	16360	c.1401C>G	c.(1399-1401)gcC>gcG	p.A467A	BRF1_ENST00000379937.2_Silent_p.A440A|BRF1_ENST00000446501.2_Silent_p.A229A|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000327359.3_Silent_p.A352A|BRF1_ENST00000392557.4_Silent_p.A263A|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000440513.3_Silent_p.A374A	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	467					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CCTTCACGCGGGCTTCCGACT	0.647																																						uc001yqp.2		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1399-1401)GCC>GCG		transcription initiation factor IIIB isoform 1							103.0	93.0	96.0					14																	105685546		2203	4300	6503	SO:0001819	synonymous_variant	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105685546G>C	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1401C>G	14.37:g.105685546G>C						BRF1_uc010tyo.1_Silent_p.A352A|BRF1_uc010typ.1_Silent_p.A374A|BRF1_uc001yqk.2_5'UTR|BRF1_uc001yql.2_Silent_p.A263A|BRF1_uc001yqo.2_Silent_p.A229A|BRF1_uc010axg.1_Silent_p.A440A|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_5'UTR	p.A467A	NM_001519	NP_001510	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	13	1764	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	467					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Silent	SNP	ENST00000546474.1	37	c.1401C>G	CCDS10001.1																																																																																				0.647	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4		NM_001519		32	57	0	0	0	0.015359	0	32	57		
APBA2	321	broad.mit.edu	37	15	29400577	29400577	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:29400577C>T	ENST00000558402.1	+	14	2621	c.2022C>T	c.(2020-2022)agC>agT	p.S674S	APBA2_ENST00000561069.1_Silent_p.S674S|APBA2_ENST00000558259.1_Silent_p.S674S|APBA2_ENST00000411764.1_Silent_p.S662S|APBA2_ENST00000558330.1_Silent_p.S662S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	674	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGGGCTTCAGCGTGCAGAATG	0.607																																						uc001zck.2		NaN																	0					0						c.(2020-2022)AGC>AGT		amyloid beta A4 precursor protein-binding,							166.0	149.0	155.0					15																	29400577		2203	4300	6503	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29400577C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.2022C>T	15.37:g.29400577C>T						APBA2_uc010azj.2_Silent_p.S662S|APBA2_uc010uat.1_Silent_p.S662S|APBA2_uc001zcl.2_Silent_p.S662S	p.S674S	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	12	2229	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	674			PDZ 2.		E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.2022C>T	CCDS10022.1																																																																																				0.607	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3		NM_005503		27	90	0	0	0	0.00632	0	27	90		
FSIP1	161835	broad.mit.edu	37	15	39910077	39910077	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:39910077C>T	ENST00000350221.3	-	11	1767	c.1558G>A	c.(1558-1560)Gac>Aac	p.D520N		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	520										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATAAAATAGTCTTTTGTGTCA	0.408																																						uc001zki.2		NaN																	0				ovary(2)|skin(1)	3						c.(1558-1560)GAC>AAC		fibrous sheath interacting protein 1							110.0	103.0	106.0					15																	39910077		2200	4297	6497	SO:0001583	missense	161835							g.chr15:39910077C>T	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1558G>A	15.37:g.39910077C>T	ENSP00000280236:p.Asp520Asn						p.D520N	NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	11	1776	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	520					Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	c.1558G>A	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631017	0.67015	.	.	ENSG00000150667	ENST00000350221	T	0.13307	2.6	4.84	3.89	0.44902	.	0.139845	0.33057	N	0.005321	T	0.22666	0.0547	L	0.29908	0.895	0.29619	N	0.846354	D	0.76494	0.999	D	0.69479	0.964	T	0.03068	-1.1076	9	.	.	.	-5.8628	13.0512	0.58957	0.1611:0.8389:0.0:0.0	.	520	Q8NA03	FSIP1_HUMAN	N	520	ENSP00000280236:D520N	.	D	-	1	0	FSIP1	37697369	0.853000	0.29707	0.862000	0.33874	0.862000	0.49288	1.324000	0.33712	1.341000	0.45600	0.591000	0.81541	GAC		0.408	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2		NM_152597		55	52	0	0	0	0.01441	0	55	52		
EIF2AK4	440275	broad.mit.edu	37	15	40268620	40268620	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:40268620G>A	ENST00000263791.5	+	12	1867	c.1824G>A	c.(1822-1824)caG>caA	p.Q608Q	EIF2AK4_ENST00000382727.2_Silent_p.Q608Q	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	608	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		CGCAGGTGCAGAACAAGTTGG	0.617																																						uc001zkm.1		NaN																	0				lung(2)|stomach(1)|skin(1)	4						c.(1822-1824)CAG>CAA		eukaryotic translation initiation factor 2 alpha							33.0	35.0	34.0					15																	40268620		2074	4207	6281	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40268620G>A	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.1824G>A	15.37:g.40268620G>A						EIF2AK4_uc010bbj.1_Silent_p.Q337Q	p.Q608Q	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	12	1874	+		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)	608			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.1824G>A	CCDS42016.1																																																																																				0.617	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1				22	20	0	0	0	0.012319	0	22	20		
INO80	54617	broad.mit.edu	37	15	41319809	41319809	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:41319809A>G	ENST00000361937.3	-	25	3457	c.3033T>C	c.(3031-3033)tgT>tgC	p.C1011C	RP11-540O11.4_ENST00000560178.1_RNA|INO80_ENST00000401393.3_Silent_p.C1011C			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1011	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GACTGGCCACACACAAAAAAG	0.473																																						uc001zni.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(3031-3033)TGT>TGC		INO80 complex homolog 1							57.0	56.0	56.0					15																	41319809		2203	4300	6503	SO:0001819	synonymous_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41319809A>G	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3033T>C	15.37:g.41319809A>G						INO80_uc010ucu.1_RNA	p.C1011C	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			25	3246	-			1011			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	c.3033T>C	CCDS10071.1																																																																																				0.473	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553		13	37	0	0	0	0.016723	0	13	37		
MGA	23269	broad.mit.edu	37	15	42003336	42003336	+	Missense_Mutation	SNP	C	C	G	rs572851867		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:42003336C>G	ENST00000570161.1	+	7	2873	c.2873C>G	c.(2872-2874)aCt>aGt	p.T958S	MGA_ENST00000545763.1_Missense_Mutation_p.T958S|MGA_ENST00000566586.1_Missense_Mutation_p.T958S|MGA_ENST00000219905.7_Missense_Mutation_p.T958S|MGA_ENST00000389936.4_Missense_Mutation_p.T958S			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTTGTGCCAACTTTGGATGAA	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		21502	0.0		0.0	False		,,,				2504	0.001					uc001zog.1		NaN																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(2872-2874)ACT>AGT		MAX-interacting protein isoform 2							106.0	106.0	106.0					15																	42003336		1974	4182	6156	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42003336C>G	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2873C>G	15.37:g.42003336C>G	ENSP00000457035:p.Thr958Ser					MGA_uc010ucy.1_Missense_Mutation_p.T958S|MGA_uc010ucz.1_Missense_Mutation_p.T958S	p.T958S	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	8	2964	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	958					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.2873C>G	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	6.870	0.529981	0.13127	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.15487	2.42;2.42;2.42	5.83	3.9	0.45041	.	1.131680	0.06406	N	0.719681	T	0.08313	0.0207	N	0.04508	-0.205	0.09310	N	0.999999	B;B	0.18610	0.029;0.007	B;B	0.19946	0.027;0.004	T	0.39840	-0.9594	10	0.10636	T	0.68	.	7.1597	0.25657	0.1204:0.6609:0.1512:0.0676	.	958;958	F5H7K2;E7ENI0	.;.	S	958	ENSP00000219905:T958S;ENSP00000374586:T958S;ENSP00000442467:T958S	ENSP00000219905:T958S	T	+	2	0	MGA	39790628	0.023000	0.18921	1.000000	0.80357	0.985000	0.73830	1.061000	0.30542	0.737000	0.32582	0.650000	0.86243	ACT		0.433	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1		25	101	0	0	0	0.004656	0	25	101		
PLA2G4D	283748	broad.mit.edu	37	15	42374548	42374548	+	Missense_Mutation	SNP	C	C	T	rs201139245	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:42374548C>T	ENST00000290472.3	-	9	806	c.712G>A	c.(712-714)Ggg>Agg	p.G238R		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	238					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GTGAGGTACCCAGCTGAGTTG	0.483													C|||	4	0.000798722	0.0	0.0	5008	,	,		16529	0.004		0.0	False		,,,				2504	0.0					uc001zox.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(712-714)GGG>AGG		phospholipase A2, group IVD							122.0	98.0	106.0					15																	42374548		2203	4299	6502	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42374548C>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.712G>A	15.37:g.42374548C>T	ENSP00000290472:p.Gly238Arg						p.G238R	NM_178034	NP_828848	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	9	807	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	238					Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.712G>A	CCDS32203.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	3.613	-0.079074	0.07141	.	.	ENSG00000159337	ENST00000290472	T	0.01221	5.15	3.98	-0.322	0.12713	.	1.437400	0.04382	N	0.360981	T	0.01558	0.0050	M	0.68593	2.085	0.09310	N	1	B	0.24092	0.097	B	0.23852	0.049	T	0.47005	-0.9150	10	0.44086	T	0.13	-0.6264	2.7651	0.05318	0.1527:0.5247:0.1358:0.1867	.	238	Q86XP0	PA24D_HUMAN	R	238	ENSP00000290472:G238R	ENSP00000290472:G238R	G	-	1	0	PLA2G4D	40161840	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.258000	0.18387	-0.221000	0.09973	-3.120000	0.00061	GGG		0.483	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1		NM_178034		17	47	0	0	0	0.007413	0	17	47		
ELL3	80237	broad.mit.edu	37	15	44067580	44067580	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:44067580C>T	ENST00000319359.3	-	6	1211		c.e6-1		SERF2_ENST00000381359.1_5'Flank|ELL3_ENST00000497465.1_5'UTR|RP11-296A16.1_ENST00000417761.2_Splice_Site	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3						DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GGTCTGGCTTCTAGGATATTT	0.458											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zsw.1		NaN																	0				ovary(1)	1						c.e6-1		elongation factor RNA polymerase II-like 3							44.0	44.0	44.0					15																	44067580		2198	4298	6496	SO:0001630	splice_region_variant	80237				positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr15:44067580C>T	AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.570-1G>A	15.37:g.44067580C>T			OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	ELL3_uc001zsv.1_Splice_Site_p.R144_splice|ELL3_uc001zsx.1_Splice_Site_p.R75_splice|uc001zsy.2_5'Flank	p.R190_splice	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	6	973	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)						B3KQ66|B3KX08|Q6I9Z7|Q9H634	Splice_Site	SNP	ENST00000319359.3	37	c.570_splice	CCDS10102.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613017	0.46631	.	.	ENSG00000128886	ENST00000319359	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6365	0.76958	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELL3	41854872	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	3.475000	0.53136	2.774000	0.95407	0.484000	0.47621	.		0.458	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2		NM_025165	Intron	15	18	0	0	0	0.003163	0	15	18		
SEMA6D	80031	broad.mit.edu	37	15	48063558	48063558	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:48063558C>T	ENST00000316364.5	+	19	3237	c.2798C>T	c.(2797-2799)cCt>cTt	p.P933L	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P877L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P933L|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P871L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P890L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P871L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P858L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P914L|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P871L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	933					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TACTCCCCTCCTTCAACTCTC	0.517																																						uc010bek.2		NaN																	0				skin(3)|breast(1)	4						c.(2797-2799)CCT>CTT		semaphorin 6D isoform 4 precursor							122.0	119.0	120.0					15																	48063558		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063558C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2798C>T	15.37:g.48063558C>T	ENSP00000324857:p.Pro933Leu					SEMA6D_uc001zvw.2_Missense_Mutation_p.P871L|SEMA6D_uc001zvy.2_Missense_Mutation_p.P933L|SEMA6D_uc001zvz.2_Missense_Mutation_p.P877L|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.P871L|SEMA6D_uc001zwc.2_Missense_Mutation_p.P858L	p.P933L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	3158	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	933			Cytoplasmic (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2798C>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197712	0.58126	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.18502	2.21;2.23;2.23;2.22;2.21;2.21;2.21;2.22	5.8	5.8	0.92144	.	0.062171	0.64402	D	0.000002	T	0.12603	0.0306	N	0.08118	0	0.80722	D	1	P;P;P;P	0.40875	0.622;0.731;0.616;0.622	B;B;B;B	0.39531	0.275;0.302;0.258;0.275	T	0.10660	-1.0620	10	0.49607	T	0.09	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	858;877;933;871	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	L	871;933;933;914;890;877;871;858	ENSP00000442040:P871L;ENSP00000446152:P933L;ENSP00000324857:P933L;ENSP00000374084:P914L;ENSP00000374083:P890L;ENSP00000346786:P877L;ENSP00000350770:P871L;ENSP00000374079:P858L	ENSP00000324857:P933L	P	+	2	0	SEMA6D	45850850	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.487000	0.81328	2.758000	0.94735	0.563000	0.77884	CCT		0.517	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1		NM_024966		48	127	0	0	0	0.01441	0	48	127		
ONECUT1	3175	broad.mit.edu	37	15	53081358	53081358	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:53081358C>A	ENST00000305901.5	-	1	851	c.724G>T	c.(724-726)Gtg>Ttg	p.V242L	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	242					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TTGATGGGCACCATGCCGGCC	0.706																																						uc002aci.1		NaN																	0					0						c.(724-726)GTG>TTG		one cut homeobox 1							48.0	56.0	53.0					15																	53081358		2192	4292	6484	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081358C>A	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.724G>T	15.37:g.53081358C>A	ENSP00000302630:p.Val242Leu						p.V242L	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	852	-			242					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.724G>T	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	C	6.483	0.457203	0.12342	.	.	ENSG00000169856	ENST00000305901	T	0.42900	0.96	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000001	T	0.32346	0.0826	L	0.44542	1.39	0.80722	D	1	B	0.34290	0.447	B	0.26614	0.071	T	0.11108	-1.0601	10	0.15066	T	0.55	-9.269	16.4501	0.83977	0.0:1.0:0.0:0.0	.	242	Q9UBC0	HNF6_HUMAN	L	242	ENSP00000302630:V242L	ENSP00000302630:V242L	V	-	1	0	ONECUT1	50868650	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	5.807000	0.69157	2.437000	0.82529	0.609000	0.83330	GTG		0.706	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2				54	50	1	0	4.25531e-23	0.01441	4.64996e-23	54	50		
DPP8	54878	broad.mit.edu	37	15	65782623	65782623	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:65782623C>G	ENST00000341861.5	-	6	2358	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q	DPP8_ENST00000339244.5_Missense_Mutation_p.E260Q|DPP8_ENST00000358939.4_Missense_Mutation_p.E244Q|DPP8_ENST00000321147.6_Missense_Mutation_p.E260Q|DPP8_ENST00000321118.7_Missense_Mutation_p.E260Q|DPP8_ENST00000300141.6_Missense_Mutation_p.E244Q|DPP8_ENST00000559233.1_Missense_Mutation_p.E260Q	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	260					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCATCTTCTTCCATGTTGGCT	0.368																																						uc002aov.2		NaN																	0				ovary(1)	1						c.(778-780)GAA>CAA		dipeptidyl peptidase 8 isoform 1							76.0	75.0	76.0					15																	65782623		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65782623C>G	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.778G>C	15.37:g.65782623C>G	ENSP00000339208:p.Glu260Gln					DPP8_uc002aow.2_Missense_Mutation_p.E260Q|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.E244Q|DPP8_uc002aoy.2_Missense_Mutation_p.E260Q|DPP8_uc002aoz.2_Missense_Mutation_p.E244Q|DPP8_uc010bhj.2_Missense_Mutation_p.E260Q|DPP8_uc002apa.2_Missense_Mutation_p.E157Q|DPP8_uc010bhk.1_Missense_Mutation_p.E2Q	p.E260Q	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN			6	2356	-			260					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.778G>C	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306929	0.81247	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T	0.46063	0.88;0.89	5.87	5.87	0.94306	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	L	0.36672	1.1	0.25607	N	0.986531	P;B;D;B;B	0.54964	0.905;0.003;0.969;0.003;0.004	P;B;P;B;B	0.50934	0.46;0.016;0.654;0.016;0.027	T	0.39035	-0.9633	10	0.13853	T	0.58	-14.4506	20.2119	0.98289	0.0:1.0:0.0:0.0	.	260;244;244;260;260	C9JSG1;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	Q	260;244;244;260;260;260;260	ENSP00000339208:E260Q;ENSP00000300141:E244Q	ENSP00000300141:E244Q	E	-	1	0	DPP8	63569676	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.215000	0.65241	2.784000	0.95788	0.585000	0.79938	GAA		0.368	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1		NM_017743		11	54	0	0	0	0.008291	0	11	54		
DIS3L	115752	broad.mit.edu	37	15	66587330	66587330	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:66587330G>A	ENST00000319212.4	+	2	194	c.144G>A	c.(142-144)ggG>ggA	p.G48G	DIS3L_ENST00000441424.2_5'UTR|RP11-653J6.1_ENST00000564269.1_RNA|DIS3L_ENST00000319194.5_5'UTR	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	48					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTTCAGATGGGAAACTCTTGT	0.368																																						uc010ujm.1		NaN																	0				ovary(2)	2						c.(142-144)GGG>GGA		DIS3 mitotic control homolog (S.							228.0	183.0	197.0					15																	66587330		690	1590	2280	SO:0001819	synonymous_variant	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66587330G>A		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.144G>A	15.37:g.66587330G>A						DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_5'UTR|DIS3L_uc002apq.2_Silent_p.G48G|DIS3L_uc010bho.2_5'UTR	p.G48G	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN			2	159	+			48					Q8N1N8|Q8WTU9|Q96CM7	Silent	SNP	ENST00000319212.4	37	c.144G>A	CCDS45286.1																																																																																				0.368	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2		NM_133375		14	25	0	0	0	0.016723	0	14	25		
DIS3L	115752	broad.mit.edu	37	15	66587451	66587451	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:66587451C>G	ENST00000319212.4	+	2	315	c.265C>G	c.(265-267)Caa>Gaa	p.Q89E	DIS3L_ENST00000441424.2_5'UTR|RP11-653J6.1_ENST00000564269.1_RNA|DIS3L_ENST00000319194.5_Missense_Mutation_p.Q6E	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	89					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACAGCTTGTCAAGCTGTGCA	0.433																																						uc010ujm.1		NaN																	0				ovary(2)	2						c.(265-267)CAA>GAA		DIS3 mitotic control homolog (S.							151.0	140.0	144.0					15																	66587451		2201	4299	6500	SO:0001583	missense	115752				rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	g.chr15:66587451C>G		CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.265C>G	15.37:g.66587451C>G	ENSP00000321711:p.Gln89Glu					DIS3L_uc010ujl.1_5'UTR|DIS3L_uc002app.2_Missense_Mutation_p.Q6E|DIS3L_uc002apq.2_Missense_Mutation_p.Q89E|DIS3L_uc010bho.2_5'UTR	p.Q89E	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN			2	280	+			89					Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	ENST00000319212.4	37	c.265C>G	CCDS45286.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.707753	0.00712	.	.	ENSG00000166938	ENST00000319194;ENST00000525134;ENST00000319212;ENST00000532580;ENST00000530615	T;T	0.20881	2.04;2.2	5.17	4.23	0.50019	.	1.675800	0.02804	N	0.123508	T	0.18759	0.0450	L	0.37750	1.13	0.80722	D	1	B;B	0.31077	0.205;0.307	B;B	0.23574	0.021;0.047	T	0.43702	-0.9375	10	0.05721	T	0.95	-7.4914	14.0245	0.64577	0.152:0.848:0.0:0.0	.	89;89	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	E	6;6;89;6;6	ENSP00000321583:Q6E;ENSP00000321711:Q89E	ENSP00000321583:Q6E	Q	+	1	0	DIS3L	64374505	1.000000	0.71417	0.069000	0.20011	0.041000	0.13682	4.106000	0.57804	1.129000	0.42072	0.655000	0.94253	CAA		0.433	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382792.2		NM_133375		28	68	0	0	0	0.007291	0	28	68		
HCN4	10021	broad.mit.edu	37	15	73615332	73615332	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:73615332G>A	ENST00000261917.3	-	8	4095	c.3102C>T	c.(3100-3102)ccC>ccT	p.P1034P		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1034	Pro-rich.				blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGGTTCTTGGGGGGCCTGGGC	0.721																																						uc002avp.2		NaN																	0				ovary(5)|liver(1)	6						c.(3100-3102)CCC>CCT		hyperpolarization activated cyclic							3.0	4.0	4.0					15																	73615332		1261	2900	4161	SO:0001819	synonymous_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615332G>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3102C>T	15.37:g.73615332G>A							p.P1034P	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	4096	-			1034			Pro-rich.|Cytoplasmic (Potential).		Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.3102C>T	CCDS10248.1																																																																																				0.721	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2		NM_005477		3	3	0	0	0	0.004672	0	3	3		
ARID3B	10620	broad.mit.edu	37	15	74836783	74836783	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:74836783C>T	ENST00000346246.5	+	2	737	c.506C>T	c.(505-507)tCc>tTc	p.S169F		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	169						nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II 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)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCTTCTGTCTCCACAGCAGGA	0.522																																						uc002aye.2		NaN																	0					0						c.(505-507)TCC>TTC		AT rich interactive domain 3B							70.0	56.0	61.0					15																	74836783		2197	4296	6493	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74836783C>T		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.506C>T	15.37:g.74836783C>T	ENSP00000343126:p.Ser169Phe					ARID3B_uc002ayc.2_Missense_Mutation_p.S169F|ARID3B_uc002ayd.2_Missense_Mutation_p.S169F	p.S169F	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN			2	707	+			169					O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.506C>T	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008454	0.54361	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.52057	0.68	5.5	5.5	0.81552	.	0.979822	0.08397	N	0.951990	T	0.54951	0.1890	N	0.24115	0.695	0.23537	N	0.997467	P;D;P	0.56968	0.924;0.978;0.956	P;P;P	0.56700	0.459;0.804;0.564	T	0.57923	-0.7727	10	0.66056	D	0.02	-5.0548	17.6042	0.88033	0.0:1.0:0.0:0.0	.	169;169;169	Q8IVW6;Q8IVW6-4;B4DQB0	ARI3B_HUMAN;.;.	F	169	ENSP00000343126:S169F	ENSP00000343126:S169F	S	+	2	0	ARID3B	72623836	0.326000	0.24669	0.007000	0.13788	0.395000	0.30598	5.842000	0.69417	2.583000	0.87209	0.650000	0.86243	TCC		0.522	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2		NM_006465		11	30	0	0	0	0.013537	0	11	30		
C15orf39	56905	broad.mit.edu	37	15	75498410	75498410	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:75498410G>A	ENST00000360639.2	+	2	341	c.21G>A	c.(19-21)ctG>ctA	p.L7L	C15orf39_ENST00000567617.1_Silent_p.L7L|C15orf39_ENST00000394987.4_Silent_p.L7L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	7						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGCGACCCCTGAGAACCCTGG	0.602																																						uc002azp.3		NaN																	0					0						c.(19-21)CTG>CTA		hypothetical protein LOC56905							41.0	31.0	34.0					15																	75498410		2197	4295	6492	SO:0001819	synonymous_variant	56905							g.chr15:75498410G>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.21G>A	15.37:g.75498410G>A						C15orf39_uc002azq.3_Silent_p.L7L|C15orf39_uc002azr.3_5'Flank	p.L7L	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN			2	341	+			7					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Silent	SNP	ENST00000360639.2	37	c.21G>A	CCDS10276.1																																																																																				0.602	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1		NM_015492		11	8	0	0	0	0.008291	0	11	8		
ADAMTSL3	57188	broad.mit.edu	37	15	84539658	84539658	+	Missense_Mutation	SNP	G	G	A	rs139499552		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:84539658G>A	ENST00000286744.5	+	9	1131	c.907G>A	c.(907-909)Gag>Aag	p.E303K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E303K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	303						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGGGGCTCCGAGAGGCAAAC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		14908	0.001		0.0	False		,,,				2504	0.0					uc002bjz.3		NaN																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(907-909)GAG>AAG		ADAMTS-like 3 precursor							74.0	81.0	79.0					15																	84539658		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84539658G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.907G>A	15.37:g.84539658G>A	ENSP00000286744:p.Glu303Lys					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E303K|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.E303K	p.E303K	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		9	1131	+			303					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.907G>A	CCDS10326.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.31	1.898991	0.33535	.	.	ENSG00000156218	ENST00000286744	T	0.65364	-0.15	4.69	4.69	0.59074	.	0.532696	0.20444	N	0.092226	T	0.55641	0.1933	L	0.52206	1.635	0.41505	D	0.9883	P;P	0.49358	0.824;0.923	B;B	0.39465	0.3;0.207	T	0.57883	-0.7734	10	0.27082	T	0.32	.	16.3709	0.83357	0.0:0.0:1.0:0.0	.	303;303	P82987-2;P82987	.;ATL3_HUMAN	K	303	ENSP00000286744:E303K	ENSP00000286744:E303K	E	+	1	0	ADAMTSL3	82330662	1.000000	0.71417	0.760000	0.31359	0.146000	0.21551	6.751000	0.74893	2.129000	0.65627	0.462000	0.41574	GAG		0.438	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2		NM_207517		55	42	0	0	0	0.01441	0	55	42		
HBA1	3039	broad.mit.edu	37	16	227392	227392	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:227392G>A	ENST00000320868.5	+	3	448	c.411G>A	c.(409-411)ctG>ctA	p.L137L	Y_RNA_ENST00000384514.1_RNA|HBA1_ENST00000397797.1_Silent_p.L105L	NM_000558.3	NP_000549.1	P69905	HBA_HUMAN	hemoglobin, alpha 1	137			L -> M (in Chicago).|L -> P (in Bibba; unstable; causes alpha- thalassemia).|L -> R (in Toyama). {ECO:0000269|PubMed:2833478}.		bicarbonate transport (GO:0015701)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of cell death (GO:0010942)|protein heterooligomerization (GO:0051291)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			lung(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Iron Dextran(DB00893)|Mefloquine(DB00358)	GCACCGTGCTGACCTCCAAAT	0.672											OREG0003687	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002cfw.2		NaN																	0					0						c.(409-411)CTG>CTA		alpha 1 globin	Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)						49.0	42.0	45.0					16																	227392		2203	4298	6501	SO:0001819	synonymous_variant	3040				hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	g.chr16:227392G>A	AF349571	CCDS10399.1	16p13.3	2014-05-19			ENSG00000206172	ENSG00000206172			4823	protein-coding gene	gene with protein product		141800				1975428, 2649166	Standard	NM_000558		Approved	HBA-T3	uc002cfx.1	P69905	OTTHUMG00000060138	ENST00000320868.5:c.411G>A	16.37:g.227392G>A			OREG0003687	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	586	HBA1_uc002cfx.1_Silent_p.L137L|HBA1_uc002cfy.1_Silent_p.L105L|HBQ1_uc002cfz.2_5'Flank	p.L137L	NM_000558	NP_000549	P69905	HBA_HUMAN			3	477	+		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	137		L -> P (in Bibba; unstable; causes alpha- thalassemia).|L -> M (in Chicago).|L -> R (in Toyama).			P01922|Q1HDT5|Q3MIF5|Q53F97|Q96KF1|Q9NYR7|Q9UCM0	Silent	SNP	ENST00000320868.5	37	c.411G>A	CCDS10399.1																																																																																				0.672	HBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133459.1		NM_000558		8	10	0	0	0	0.00308	0	8	10		
RHBDL1	9028	broad.mit.edu	37	16	726418	726418	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:726418C>T	ENST00000219551.2	+	1	344	c.317C>T	c.(316-318)cCg>cTg	p.P106L	LA16c-313D11.9_ENST00000571933.1_RNA|RHBDL1_ENST00000352681.3_Missense_Mutation_p.P41L|LA16c-313D11.9_ENST00000567091.1_RNA			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	106					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CCCCTGGACCCGGCCAAGCTG	0.667																																						uc002cis.1		NaN																	0					0						c.(316-318)CCG>CTG		rhomboid protease 1							15.0	14.0	14.0					16																	726418		2167	4263	6430	SO:0001583	missense	9028				proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	g.chr16:726418C>T	Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"""rhomboid (veinlet, Drosophila)-like"""	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.317C>T	16.37:g.726418C>T	ENSP00000219551:p.Pro106Leu					RHBDL1_uc002cir.1_Missense_Mutation_p.P41L|RHBDL1_uc010uun.1_Missense_Mutation_p.P41L	p.P106L	NM_003961	NP_003952	O75783	RHBL1_HUMAN			1	344	+		Hepatocellular(780;0.0218)	106					A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	SNP	ENST00000219551.2	37	c.317C>T	CCDS10418.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882396	0.72294	.	.	ENSG00000103269	ENST00000352681;ENST00000450775;ENST00000219551	T;T	0.45276	0.9;0.9	4.48	3.52	0.40303	EF-hand-like domain (1);	0.000000	0.56097	D	0.000029	T	0.49898	0.1584	L	0.32530	0.975	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.50625	-0.8806	10	0.59425	D	0.04	-23.0224	10.5875	0.45290	0.0:0.9037:0.0:0.0963	.	41;106;41	B4DFK3;O75783;O75783-2	.;RHBL1_HUMAN;.	L	41;41;106	ENSP00000344206:P41L;ENSP00000219551:P106L	ENSP00000219551:P106L	P	+	2	0	RHBDL1	666419	0.999000	0.42202	0.960000	0.40013	0.991000	0.79684	4.232000	0.58645	2.052000	0.61016	0.462000	0.41574	CCG		0.667	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241619.1		NM_003961		5	4	0	0	0	0.014758	0	5	4		
MAPK8IP3	23162	broad.mit.edu	37	16	1817831	1817831	+	Silent	SNP	C	C	T	rs185930912	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:1817831C>T	ENST00000250894.4	+	28	3589	c.3432C>T	c.(3430-3432)ttC>ttT	p.F1144F	MAPK8IP3_ENST00000356010.5_Silent_p.F1138F	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1144					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GTTTCTCCTTCGTACGCATCA	0.667													C|||	4	0.000798722	0.0	0.0	5008	,	,		18493	0.0		0.004	False		,,,				2504	0.0					uc002cmk.2		NaN																	0				breast(2)|central_nervous_system(1)	3						c.(3430-3432)TTC>TTT		mitogen-activated protein kinase 8 interacting		C	,	0,4242		0,0,2121	57.0	67.0	64.0		3414,3432	-1.1	1.0	16		64	1,8463		0,1,4231	no	coding-synonymous,coding-synonymous	MAPK8IP3	NM_001040439.1,NM_015133.3	,	0,1,6352	TT,TC,CC		0.0118,0.0,0.0079	,	1138/1331,1144/1337	1817831	1,12705	2121	4232	6353	SO:0001819	synonymous_variant	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1817831C>T	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3432C>T	16.37:g.1817831C>T						MAPK8IP3_uc002cml.2_Silent_p.F1138F|MAPK8IP3_uc010uvl.1_Silent_p.F1145F	p.F1144F	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			28	3552	+			1144					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	ENST00000250894.4	37	c.3432C>T	CCDS10442.2																																																																																				0.667	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2		NM_001040439		3	44	0	0	0	0.004672	0	3	44		
CREBBP	1387	broad.mit.edu	37	16	3807879	3807879	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:3807879C>G	ENST00000262367.5	-	18	4349	c.3540G>C	c.(3538-3540)aaG>aaC	p.K1180N	CREBBP_ENST00000382070.3_Missense_Mutation_p.K1142N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1180	Interaction with ASF1A. {ECO:0000269|PubMed:24616510}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCTCTGCAAGCTTACTGCAAA	0.473			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(3538-3540)AAG>AAC		CREB binding protein isoform a							129.0	111.0	117.0					16																	3807879		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3807879C>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3540G>C	16.37:g.3807879C>G	ENSP00000262367:p.Lys1180Asn					CREBBP_uc002cvw.2_Missense_Mutation_p.K1142N	p.K1180N	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	18	3744	-		Ovarian(90;0.0266)	1180					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3540G>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554296	0.27739	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	T;T	0.19669	2.13;2.13	5.59	2.04	0.26737	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.85777	2.775	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	T	0.42783	-0.9431	10	0.72032	D	0.01	-14.5556	10.2651	0.43449	0.0:0.4226:0.0:0.5774	.	1210;1180	Q4LE28;Q92793	.;CBP_HUMAN	N	1180;1210;1142	ENSP00000262367:K1180N;ENSP00000371502:K1142N	ENSP00000262367:K1180N	K	-	3	2	CREBBP	3747880	0.996000	0.38824	0.989000	0.46669	0.986000	0.74619	0.320000	0.19540	0.069000	0.16605	-0.482000	0.04802	AAG		0.473	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		24	18	0	0	0	0.016522	0	24	18		
GRIN2A	2903	broad.mit.edu	37	16	9923389	9923389	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:9923389A>G	ENST00000396573.2	-	10	2207	c.1898T>C	c.(1897-1899)gTa>gCa	p.V633A	GRIN2A_ENST00000404927.2_Missense_Mutation_p.V633A|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V633A|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V476A|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V633A|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V633A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	633					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAAGGCCCATACAGATACCAT	0.493																																						uc002czo.3		NaN																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1897-1899)GTA>GCA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						138.0	116.0	124.0					16																	9923389		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9923389A>G		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1898T>C	16.37:g.9923389A>G	ENSP00000379818:p.Val633Ala					GRIN2A_uc010uym.1_Missense_Mutation_p.V633A|GRIN2A_uc010uyn.1_Missense_Mutation_p.V476A|GRIN2A_uc002czr.3_Missense_Mutation_p.V633A	p.V633A	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			9	2446	-			633			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1898T>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.347985	0.82132	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.27	5.27	0.74061	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.054147	0.64402	D	0.000001	T	0.62085	0.2399	L	0.58583	1.82	0.80722	D	1	P;P;P	0.52170	0.951;0.932;0.711	P;P;P	0.54544	0.69;0.755;0.474	T	0.62172	-0.6910	9	.	.	.	.	14.3997	0.67034	1.0:0.0:0.0:0.0	.	476;633;633	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	A	633;633;476;633;633	ENSP00000379818:V633A;ENSP00000385872:V633A;ENSP00000441572:V476A;ENSP00000332549:V633A;ENSP00000379820:V633A	.	V	-	2	0	GRIN2A	9830890	1.000000	0.71417	0.964000	0.40570	0.648000	0.38561	9.173000	0.94815	1.997000	0.58415	0.533000	0.62120	GTA		0.493	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3				46	16	0	0	0	0.010771	0	46	16		
CLEC16A	23274	broad.mit.edu	37	16	11051690	11051690	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:11051690G>A	ENST00000409790.1	+	2	362	c.132G>A	c.(130-132)cgG>cgA	p.R44R	CLEC16A_ENST00000409552.3_Silent_p.R44R	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AACAGAACCGGAACCTGCTAG	0.428																																						uc002dao.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(130-132)CGG>CGA		C-type lectin domain family 16, member A							124.0	121.0	122.0					16																	11051690		1929	4130	6059	SO:0001819	synonymous_variant	23274							g.chr16:11051690G>A	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.132G>A	16.37:g.11051690G>A						CLEC16A_uc002dan.3_Silent_p.R44R	p.R44R	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			2	362	+			44						Silent	SNP	ENST00000409790.1	37	c.132G>A	CCDS45409.1																																																																																				0.428	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2		NM_015226		38	26	0	0	0	0.00623	0	38	26		
RBBP6	5930	broad.mit.edu	37	16	24578652	24578652	+	Missense_Mutation	SNP	C	C	T	rs144821029		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:24578652C>T	ENST00000319715.4	+	15	2210	c.1778C>T	c.(1777-1779)cCa>cTa	p.P593L	RBBP6_ENST00000348022.2_Missense_Mutation_p.P593L|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	593					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GGCCAGCCACCACCCGCTGGG	0.552																																						uc002dmh.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(1777-1779)CCA>CTA		retinoblastoma-binding protein 6 isoform 1		C	LEU/PRO,LEU/PRO	0,4394		0,0,2197	206.0	209.0	208.0		1778,1778	5.9	1.0	16	dbSNP_134	208	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RBBP6	NM_006910.4,NM_018703.3	98,98	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	593/1793,593/1759	24578652	1,12993	2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24578652C>T		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1778C>T	16.37:g.24578652C>T	ENSP00000317872:p.Pro593Leu					RBBP6_uc010vcb.1_Missense_Mutation_p.P460L|RBBP6_uc002dmi.2_Missense_Mutation_p.P593L|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.P460L	p.P593L	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	15	2818	+			593					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.1778C>T	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055713	0.55325	0.0	1.16E-4	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.40756	1.02;1.4	5.9	5.9	0.94986	.	0.231079	0.36034	N	0.002834	T	0.56337	0.1978	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.54768	-0.8244	10	0.52906	T	0.07	-14.4131	20.2723	0.98479	0.0:1.0:0.0:0.0	.	593;593	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	L	593	ENSP00000317872:P593L;ENSP00000316291:P593L	ENSP00000317872:P593L	P	+	2	0	RBBP6	24486153	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	3.580000	0.53907	2.793000	0.96121	0.563000	0.77884	CCA		0.552	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2		NM_006910		145	65	0	0	0	0.01441	0	145	65		
NSMCE1	197370	broad.mit.edu	37	16	27246541	27246541	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:27246541C>T	ENST00000361439.4	-	3	315	c.216G>A	c.(214-216)aaG>aaA	p.K72K		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	72	Interaction with NDNL2.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)	7						TGACTCCTCTCTTTATCTCAA	0.478											OREG0023693	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002doi.1		NaN																	0					0						c.(214-216)AAG>AAA		non-SMC element 1 homolog							81.0	85.0	83.0					16																	27246541		2094	4238	6332	SO:0001819	synonymous_variant	197370				DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding	g.chr16:27246541C>T	AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.216G>A	16.37:g.27246541C>T			OREG0023693	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	792	NSMCE1_uc002doj.1_RNA	p.K72K	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN			3	314	-			72					D3DWF6|Q9P045|Q9P049	Silent	SNP	ENST00000361439.4	37	c.216G>A	CCDS10628.2																																																																																				0.478	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254577.3		NM_145080		34	15	0	0	0	0.012213	0	34	15		
ZNF423	23090	broad.mit.edu	37	16	49672418	49672418	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:49672418G>A	ENST00000561648.1	-	4	698	c.645C>T	c.(643-645)acC>acT	p.T215T	ZNF423_ENST00000262383.2_Silent_p.T215T|ZNF423_ENST00000567169.1_Silent_p.T98T|ZNF423_ENST00000535559.1_Silent_p.T98T|ZNF423_ENST00000563137.2_Silent_p.T155T|ZNF423_ENST00000562520.1_Silent_p.T155T|ZNF423_ENST00000562871.1_Silent_p.T155T	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	215					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGAGCTGTGGGTCTTCAGGT	0.592																																						uc002efs.2		NaN																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(643-645)ACC>ACT		zinc finger protein 423							71.0	51.0	57.0					16																	49672418		2198	4300	6498	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672418G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.645C>T	16.37:g.49672418G>A						ZNF423_uc010vgn.1_Silent_p.T98T	p.T215T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	943	-		all_cancers(37;0.0155)	215			C2H2-type 4.		O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.645C>T	CCDS32445.1																																																																																				0.592	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1		NM_015069		24	7	0	0	0	0.01892	0	24	7		
SLC12A3	6559	broad.mit.edu	37	16	56906306	56906306	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:56906306A>G	ENST00000563236.1	+	7	921	c.896A>G	c.(895-897)aAc>aGc	p.N299S	SLC12A3_ENST00000262502.5_Missense_Mutation_p.N298S|SLC12A3_ENST00000438926.2_Missense_Mutation_p.N299S|SLC12A3_ENST00000566786.1_Missense_Mutation_p.N298S			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	299					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTTTGCCAACTATTTAGTG	0.557																																						uc010ccm.2		NaN																	0				ovary(2)|breast(1)	3						c.(895-897)AAC>AGC		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						99.0	88.0	92.0					16																	56906306		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56906306A>G		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.896A>G	16.37:g.56906306A>G	ENSP00000456149:p.Asn299Ser					SLC12A3_uc002ekd.3_Missense_Mutation_p.N299S|SLC12A3_uc010ccn.2_Missense_Mutation_p.N298S	p.N299S	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			7	925	+			299			Helical; (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.896A>G	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.688708	0.48097	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.55	5.55	0.83447	Amino acid permease domain (1);	0.040716	0.85682	D	0.000000	T	0.49150	0.1540	N	0.12920	0.275	0.52501	D	0.999957	B;B;P	0.35894	0.041;0.334;0.526	B;B;B	0.42916	0.055;0.402;0.386	T	0.55192	-0.8179	9	0.54805	T	0.06	.	15.6824	0.77381	1.0:0.0:0.0:0.0	.	298;299;299	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	S	298;299	.	ENSP00000262502:N299S	N	+	2	0	SLC12A3	55463807	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.824000	0.62701	2.117000	0.64856	0.459000	0.35465	AAC		0.557	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1				16	10	0	0	0	0.00499	0	16	10		
CNGB1	1258	broad.mit.edu	37	16	57949211	57949211	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:57949211T>C	ENST00000251102.8	-	23	2306	c.2246A>G	c.(2245-2247)gAt>gGt	p.D749G	CNGB1_ENST00000564448.1_Missense_Mutation_p.D743G	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	749					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						ATAGAGAAAATCCAAGGGCAG	0.587																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NaN																	0				breast(3)|pancreas(1)	4						c.(2245-2247)GAT>GGT		cyclic nucleotide gated channel beta 1 isoform							55.0	56.0	56.0					16																	57949211		1940	4131	6071	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57949211T>C	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.2246A>G	16.37:g.57949211T>C	ENSP00000251102:p.Asp749Gly					CNGB1_uc010cdh.2_Missense_Mutation_p.D743G	p.D749G	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			23	2311	-			749			Helical; Name=H3; (Potential).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.2246A>G	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.350622	0.61183	.	.	ENSG00000070729	ENST00000251102	T	0.50548	0.74	5.56	5.56	0.83823	.	0.059006	0.64402	D	0.000003	T	0.75317	0.3833	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75020	0.983;0.985	T	0.82194	-0.0578	10	0.87932	D	0	.	14.8936	0.70627	0.0:0.0:0.0:1.0	.	121;749	Q14028-2;Q14028	.;CNGB1_HUMAN	G	749	ENSP00000251102:D749G	ENSP00000251102:D749G	D	-	2	0	CNGB1	56506712	1.000000	0.71417	0.956000	0.39512	0.152000	0.21847	7.636000	0.83301	2.108000	0.64289	0.533000	0.62120	GAT		0.587	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2		NM_001297		17	12	0	0	0	0.004656	0	17	12		
DPEP3	64180	broad.mit.edu	37	16	68009695	68009695	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:68009695G>A	ENST00000268793.4	-	10	1888	c.1515C>T	c.(1513-1515)atC>atT	p.I505I	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	480					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TGAAGGTTGGGATGGTGGCAG	0.582																																						uc002evc.3		NaN																	0				breast(3)	3						c.(1513-1515)ATC>ATT		dipeptidase 3 isoform a							69.0	64.0	66.0					16																	68009695		2198	4299	6497	SO:0001819	synonymous_variant	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68009695G>A	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1515C>T	16.37:g.68009695G>A						DPEP3_uc010cex.2_Silent_p.I504I	p.I505I	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	10	1609	-		Ovarian(137;0.192)	480					B3KQ48|Q6PEZ5|Q6UXE4	Silent	SNP	ENST00000268793.4	37	c.1515C>T	CCDS10856.1																																																																																				0.582	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3		NM_022357		12	3	0	0	0	0.010729	0	12	3		
ZNF276	92822	broad.mit.edu	37	16	89789220	89789220	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:89789220G>A	ENST00000443381.2	+	2	584	c.487G>A	c.(487-489)Ggt>Agt	p.G163S	ZNF276_ENST00000289816.5_Missense_Mutation_p.G88S|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000568064.1_Missense_Mutation_p.G88S	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCCCGGCTGGTCGCCGGAA	0.592																																						uc002fos.3		NaN																	0					0						c.(487-489)GGT>AGT		zinc finger protein 276 isoform a							52.0	53.0	53.0					16																	89789220		2197	4298	6495	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789220G>A	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.487G>A	16.37:g.89789220G>A	ENSP00000415836:p.Gly163Ser					C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Missense_Mutation_p.G88S|ZNF276_uc002foq.3_Missense_Mutation_p.G88S|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	p.G163S	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	2	584	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	163					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.487G>A	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562283	0.65538	.	.	ENSG00000158805	ENST00000289816;ENST00000443381	T;T	0.13901	2.64;2.55	5.55	4.58	0.56647	.	0.167679	0.52532	D	0.000064	T	0.28200	0.0696	M	0.66939	2.045	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.54312	0.68;0.748	T	0.03840	-1.0999	10	0.87932	D	0	-15.1464	13.8463	0.63470	0.0:0.1526:0.8474:0.0	.	163;88	Q8N554;Q8N554-2	ZN276_HUMAN;.	S	88;163	ENSP00000289816:G88S;ENSP00000415836:G163S	ENSP00000289816:G88S	G	+	1	0	ZNF276	88316721	0.991000	0.36638	0.050000	0.19076	0.002000	0.02628	2.632000	0.46511	1.327000	0.45338	0.655000	0.94253	GGT		0.592	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1		NM_152287		31	23	0	0	0	0.007291	0	31	23		
DEF8	54849	broad.mit.edu	37	16	90015915	90015915	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:90015915G>A	ENST00000268676.7	+	2	131	c.42G>A	c.(40-42)gcG>gcA	p.A14A	DEF8_ENST00000567874.1_De_novo_Start_OutOfFrame|DEF8_ENST00000569453.1_De_novo_Start_OutOfFrame|DEF8_ENST00000563594.1_De_novo_Start_OutOfFrame|DEF8_ENST00000570182.1_De_novo_Start_OutOfFrame|DEF8_ENST00000418391.2_De_novo_Start_OutOfFrame|DEF8_ENST00000563795.1_De_novo_Start_OutOfFrame	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	14					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)	p.A14A(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CCTGGCAGGCGATGCAGGTAT	0.662																																						uc002fpn.1		NaN																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(40-42)GCG>GCA		differentially expressed in FDCP 8 isoform 1							59.0	59.0	59.0					16																	90015915		2198	4300	6498	SO:0001819	synonymous_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90015915G>A	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.42G>A	16.37:g.90015915G>A						DEF8_uc002fpl.2_5'UTR|DEF8_uc002fpm.2_Intron|DEF8_uc002fpo.1_5'UTR|DEF8_uc002fpp.1_5'UTR|DEF8_uc010vpq.1_5'UTR|DEF8_uc010vpr.1_5'UTR	p.A14A	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	2	131	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	14					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	c.42G>A	CCDS10989.1																																																																																				0.662	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1		NM_207514		21	24	0	0	0	0.012319	0	21	24		
PFN1	5216	broad.mit.edu	37	17	4849962	4849962	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:4849962C>T	ENST00000225655.5	-	2	905	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PFN1_ENST00000574872.1_Missense_Mutation_p.A60T	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	96					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						AAGGTGGGGGCCCCACCGGTG	0.532																																						uc002gaa.2		NaN																	0					0						c.(286-288)GCC>ACC		profilin 1							87.0	90.0	89.0					17																	4849962		2203	4300	6503	SO:0001583	missense	5216				actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding	g.chr17:4849962C>T	BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.286G>A	17.37:g.4849962C>T	ENSP00000225655:p.Ala96Thr					PFN1_uc002fzz.2_Missense_Mutation_p.A60T	p.A96T	NM_005022	NP_005013	P07737	PROF1_HUMAN			2	422	-			96					Q53Y44	Missense_Mutation	SNP	ENST00000225655.5	37	c.286G>A	CCDS11061.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986539	0.74589	.	.	ENSG00000108518	ENST00000225655	D	0.86497	-2.13	4.41	4.41	0.53225	.	0.089686	0.47093	D	0.000260	D	0.84000	0.5376	N	0.24115	0.695	0.46336	D	0.998999	D;D	0.56287	0.975;0.975	P;P	0.52909	0.543;0.713	D	0.83589	0.0122	10	0.39692	T	0.17	.	12.6967	0.57008	0.0:1.0:0.0:0.0	.	96;96	P07737;Q53Y44	PROF1_HUMAN;.	T	96	ENSP00000225655:A96T	ENSP00000225655:A96T	A	-	1	0	PFN1	4790707	0.988000	0.35896	0.949000	0.38748	0.968000	0.65278	3.257000	0.51500	2.461000	0.83175	0.462000	0.41574	GCC		0.532	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216853.1		NM_005022		23	87	0	0	0	0.016522	0	23	87		
NLRP1	22861	broad.mit.edu	37	17	5445293	5445293	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:5445293C>T	ENST00000572272.1	-	6	2582	c.2583G>A	c.(2581-2583)ctG>ctA	p.L861L	NLRP1_ENST00000577119.1_Silent_p.L861L|NLRP1_ENST00000345221.3_Silent_p.L861L|NLRP1_ENST00000354411.3_Silent_p.L861L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.L861L|NLRP1_ENST00000269280.4_Silent_p.L861L			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	861					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGTTGGCTCTCAGCCCAAAGG	0.572																																						uc002gci.2		NaN																	0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(2581-2583)CTG>CTA		NLR family, pyrin domain containing 1 isoform 1							86.0	66.0	72.0					17																	5445293		2203	4300	6503	SO:0001819	synonymous_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5445293C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2583G>A	17.37:g.5445293C>T						NLRP1_uc002gcg.1_Silent_p.L861L|NLRP1_uc002gck.2_Silent_p.L861L|NLRP1_uc002gcj.2_Silent_p.L861L|NLRP1_uc002gcl.2_Silent_p.L861L|NLRP1_uc002gch.3_Silent_p.L861L|NLRP1_uc010clh.2_Silent_p.L861L	p.L861L	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			6	3138	-		Colorectal(1115;3.48e-05)	861					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	c.2583G>A	CCDS42246.1																																																																																				0.572	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1		NM_033004		7	22	0	0	0	0.001984	0	7	22		
DLG4	1742	broad.mit.edu	37	17	7094036	7094036	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:7094036C>G	ENST00000399506.2	-	20	2357	c.2166G>C	c.(2164-2166)gaG>gaC	p.E722D	DLG4_ENST00000302955.6_Missense_Mutation_p.E719D|DLG4_ENST00000399510.2_Missense_Mutation_p.E765D			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	722					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	ATCAGAGTCTCTCTCGGGCTG	0.617																																						uc002get.3		NaN																	0				ovary(1)|breast(1)	2						c.(2293-2295)GAG>GAC		post-synaptic density protein 95 isoform 1							72.0	78.0	76.0					17																	7094036		2080	4191	6271	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7094036C>G	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.2166G>C	17.37:g.7094036C>G	ENSP00000382425:p.Glu722Asp					DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Missense_Mutation_p.E662D|DLG4_uc010cly.2_Missense_Mutation_p.E719D|DLG4_uc010vto.1_Missense_Mutation_p.E762D	p.E765D	NM_001365	NP_001356	P78352	DLG4_HUMAN			22	3496	-			722					B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.2295G>C		.	.	.	.	.	.	.	.	.	.	C	15.02	2.710281	0.48517	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912	T;T;T	0.13901	2.56;2.56;2.55	4.06	4.06	0.47325	.	.	.	.	.	T	0.13157	0.0319	L	0.41356	1.27	0.51482	D	0.99992	B;B;B;B	0.19331	0.035;0.002;0.003;0.001	B;B;B;B	0.22152	0.038;0.006;0.017;0.008	T	0.06607	-1.0817	9	0.31617	T	0.26	.	13.8004	0.63196	0.0:1.0:0.0:0.0	.	762;722;719;765	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	D	722;719;765;765;662	ENSP00000382425:E722D;ENSP00000307471:E719D;ENSP00000382428:E765D	ENSP00000293813:E765D	E	-	3	2	DLG4	7034760	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.735000	0.38176	2.101000	0.63845	0.462000	0.41574	GAG		0.617	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2		NM_001365		12	53	0	0	0	0.013537	0	12	53		
MPDU1	9526	broad.mit.edu	37	17	7490058	7490058	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:7490058C>T	ENST00000250124.6	+	4	567	c.351C>T	c.(349-351)tgC>tgT	p.C117C	MPDU1_ENST00000423172.2_Intron|AC113189.5_ENST00000415124.1_RNA|MPDU1_ENST00000396501.4_Silent_p.C117C|AC113189.5_ENST00000417897.1_RNA	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	117					dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|oligosaccharide biosynthetic process (GO:0009312)|protein folding (GO:0006457)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						TCACCATCTGCTTCCTGGTCA	0.557																																						uc002ghw.2		NaN																	0				central_nervous_system(1)	1						c.(349-351)TGC>TGT		mannose-P-dolichol utilization defect 1							107.0	95.0	99.0					17																	7490058		2203	4300	6503	SO:0001819	synonymous_variant	9526				dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding	g.chr17:7490058C>T	AF038961	CCDS11115.1	17p13.1-p12	2008-07-03			ENSG00000129255	ENSG00000129255			7207	protein-coding gene	gene with protein product		604041				8663248, 9653160, 11733564	Standard	NM_004870		Approved	SL15, Lec35, PQLC5, CDGIf	uc002ghw.3	O75352	OTTHUMG00000108147	ENST00000250124.6:c.351C>T	17.37:g.7490058C>T						MPDU1_uc010vub.1_Silent_p.C38C|MPDU1_uc002ghx.2_Silent_p.C117C|MPDU1_uc010vuc.1_Intron	p.C117C	NM_004870	NP_004861	O75352	MPU1_HUMAN			4	567	+			117			Helical; (Potential).		B3KQP1|B4DT74|Q9BUU8	Silent	SNP	ENST00000250124.6	37	c.351C>T	CCDS11115.1																																																																																				0.557	MPDU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226950.4				22	61	0	0	0	0.014323	0	22	61		
PER1	5187	broad.mit.edu	37	17	8044493	8044493	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:8044493C>T	ENST00000317276.4	-	23	4003	c.3766G>A	c.(3766-3768)Ggc>Agc	p.G1256S	PER1_ENST00000581082.1_Missense_Mutation_p.G1233S|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1256	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGGCCCCGCCTTGGGCCTCC	0.642			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2		NaN		Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		0				lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(3766-3768)GGC>AGC	Other_conserved_DNA_damage_response_genes	period 1							155.0	166.0	163.0					17																	8044493		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8044493C>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3766G>A	17.37:g.8044493C>T	ENSP00000314420:p.Gly1256Ser					PER1_uc010cns.2_Missense_Mutation_p.G130S|PER1_uc010vuq.1_RNA	p.G1256S	NM_002616	NP_002607	O15534	PER1_HUMAN			23	4004	-			1256			CRY binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3766G>A	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	6.024	0.372795	0.11409	.	.	ENSG00000179094	ENST00000317276	T	0.12039	2.72	3.87	-2.03	0.07365	.	1.327970	0.05375	N	0.536113	T	0.05181	0.0138	N	0.08118	0	0.09310	N	0.999999	B;B	0.13594	0.002;0.008	B;B	0.06405	0.002;0.002	T	0.36601	-0.9741	10	0.09338	T	0.73	6.9708	2.6737	0.05075	0.3483:0.3281:0.0:0.3236	.	1247;1256	A2I2P6;O15534	.;PER1_HUMAN	S	1256	ENSP00000314420:G1256S	ENSP00000314420:G1256S	G	-	1	0	PER1	7985218	0.001000	0.12720	0.005000	0.12908	0.149000	0.21700	-0.558000	0.05978	-0.312000	0.08741	0.491000	0.48974	GGC		0.642	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2				57	156	0	0	0	0.01441	0	57	156		
USP43	124739	broad.mit.edu	37	17	9604544	9604544	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:9604544C>G	ENST00000285199.7	+	11	1740	c.1644C>G	c.(1642-1644)ttC>ttG	p.F548L	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.F548L	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	548	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GTTTTCAGTTCTACACCAAGG	0.657																																						uc010cod.2		NaN																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1642-1644)TTC>TTG		ubiquitin specific protease 43							25.0	29.0	28.0					17																	9604544		2132	4244	6376	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9604544C>G	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1644C>G	17.37:g.9604544C>G	ENSP00000285199:p.Phe548Leu					USP43_uc002gma.3_Missense_Mutation_p.F237L|USP43_uc010vva.1_Missense_Mutation_p.F548L|USP43_uc010coe.2_Missense_Mutation_p.F345L|USP43_uc002gmc.3_Missense_Mutation_p.S25C	p.F548L	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN			11	1644	+			548					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.1644C>G	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	C	2.634	-0.285595	0.05605	.	.	ENSG00000154914	ENST00000285199	T	0.02421	4.3	4.98	1.59	0.23543	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.149138	0.44285	D	0.000461	T	0.00724	0.0024	N	0.00686	-1.255	0.27183	N	0.960618	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.48305	-0.9047	10	0.02654	T	1	-14.7984	4.4218	0.11484	0.1603:0.5946:0.1556:0.0894	.	548;237;548	B7ZVX5;Q70EL4-3;Q70EL4	.;.;UBP43_HUMAN	L	548	ENSP00000285199:F548L	ENSP00000285199:F548L	F	+	3	2	USP43	9545269	0.987000	0.35691	1.000000	0.80357	0.996000	0.88848	0.202000	0.17295	1.020000	0.39573	0.563000	0.77884	TTC		0.657	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3		NM_153210		4	6	0	0	0	0.014758	0	4	6		
TBC1D26	353149	broad.mit.edu	37	17	15641362	15641362	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:15641362G>T	ENST00000437605.2	+	6	500	c.250G>T	c.(250-252)Gac>Tac	p.D84Y	AC005324.6_ENST00000580194.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.D84Y|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000433873.1_RNA|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	84							Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GATGCTTGCAGACTGGACAAA	0.522																																						uc010cov.2		NaN																	0					0						c.(250-252)GAC>TAC		TBC1 domain family, member 26							159.0	150.0	153.0					17																	15641362		2012	4175	6187	SO:0001583	missense	353149					intracellular	Rab GTPase activator activity	g.chr17:15641362G>T		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.250G>T	17.37:g.15641362G>T	ENSP00000410111:p.Asp84Tyr					TBC1D26_uc010cou.1_Missense_Mutation_p.D84Y|TBC1D26_uc002gpb.3_RNA	p.D84Y	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)	6	500	+			84					A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	c.250G>T	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	g	5.611	0.297481	0.10622	.	.	ENSG00000214946	ENST00000437605	T	0.30714	1.52	0.888	-0.805	0.10879	Rab-GAP/TBC domain (1);	0.937398	0.08740	U	0.900785	T	0.38746	0.1052	L	0.55990	1.75	0.09310	N	1	P;D	0.57571	0.897;0.98	P;P	0.58721	0.615;0.844	T	0.26608	-1.0098	10	0.72032	D	0.01	.	3.0239	0.06084	0.6487:0.0:0.3513:0.0	.	84;84	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	Y	84	ENSP00000410111:D84Y	ENSP00000410111:D84Y	D	+	1	0	TBC1D26	15582087	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-1.012000	0.03649	-0.212000	0.10109	-0.474000	0.04947	GAC		0.522	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_178571		48	49	1	0	2.14674e-31	0.01441	2.36011e-31	48	49		
NOS2	4843	broad.mit.edu	37	17	26097944	26097944	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:26097944C>T	ENST00000313735.6	-	15	2037	c.1804G>A	c.(1804-1806)Gga>Aga	p.G602R		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	602	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CCCACCTCTCCATTGCCAGGG	0.612																																						uc002gzu.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(1804-1806)GGA>AGA		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						269.0	179.0	210.0					17																	26097944		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26097944C>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1804G>A	17.37:g.26097944C>T	ENSP00000327251:p.Gly602Arg					NOS2_uc010crh.1_Missense_Mutation_p.G602R|NOS2_uc010wab.1_Intron	p.G602R	NM_000625	NP_000616	P35228	NOS2_HUMAN			15	2068	-			602			Flavodoxin-like.		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.1804G>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653537	0.88056	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.60171	0.21	5.24	5.24	0.73138	Flavodoxin/nitric oxide synthase (2);	0.000000	0.85682	D	0.000000	D	0.84061	0.5389	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89390	0.3688	10	0.87932	D	0	.	17.8098	0.88612	0.0:1.0:0.0:0.0	.	602	P35228	NOS2_HUMAN	R	602;563	ENSP00000327251:G602R	ENSP00000327251:G602R	G	-	1	0	NOS2	23122071	1.000000	0.71417	0.995000	0.50966	0.651000	0.38670	7.818000	0.86416	2.444000	0.82710	0.462000	0.41574	GGA		0.612	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1		NM_000625		8	14	0	0	0	0.004482	0	8	14		
CORO6	84940	broad.mit.edu	37	17	27945821	27945821	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:27945821C>T	ENST00000445145.2	-	4	621	c.620G>A	c.(619-621)gGc>gAc	p.G207D	CORO6_ENST00000580212.1_Missense_Mutation_p.G207D|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000584969.1_Missense_Mutation_p.G207D|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000345068.5_Missense_Mutation_p.G207D|CORO6_ENST00000456796.3_5'Flank|CORO6_ENST00000388767.3_Missense_Mutation_p.G207D			Q6QEF8	CORO6_HUMAN	coronin 6	207					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CACCACTTGGCCTTTTCTGGG	0.597																																						uc002hel.2		NaN																	0					0						c.(619-621)GGC>GAC		coronin 6							60.0	61.0	60.0					17																	27945821		2098	4211	6309	SO:0001583	missense	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27945821C>T	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.620G>A	17.37:g.27945821C>T	ENSP00000393624:p.Gly207Asp					CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	p.G207D	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN			4	622	-			207			WD 3.		B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	ENST00000445145.2	37	c.620G>A		.	.	.	.	.	.	.	.	.	.	C	13.42	2.232332	0.39498	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	T;T	0.01647	4.71;4.71	5.67	5.67	0.87782	.	0.364949	0.31909	N	0.006873	T	0.08714	0.0216	M	0.86420	2.815	0.80722	D	1	P	0.44309	0.832	P	0.55667	0.781	T	0.00006	-1.2513	10	0.66056	D	0.02	-5.0039	8.7974	0.34887	0.1512:0.7683:0.0:0.0805	.	207	Q6QEF8-5	.	D	278;207;207	ENSP00000373419:G207D;ENSP00000393624:G207D	ENSP00000344562:G278D	G	-	2	0	CORO6	24969947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.358000	0.44134	2.837000	0.97791	0.655000	0.94253	GGC		0.597	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1		NM_032854		10	27	0	0	0	0.006214	0	10	27		
NF1	4763	broad.mit.edu	37	17	29557345	29557345	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:29557345G>A	ENST00000358273.4	+	23	3441	c.3058G>A	c.(3058-3060)Gaa>Aaa	p.E1020K	NF1_ENST00000356175.3_Missense_Mutation_p.E1020K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1020					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAATTAGTTGAAGTAATGAT	0.333			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NaN	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.?(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(3058-3060)GAA>AAA		neurofibromin isoform 1							59.0	57.0	58.0					17																	29557345		2203	4299	6502	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29557345G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3058G>A	17.37:g.29557345G>A	ENSP00000351015:p.Glu1020Lys	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.E1020K|NF1_uc010csn.1_Missense_Mutation_p.E880K|NF1_uc002hgi.1_Missense_Mutation_p.E53K	p.E1020K	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	23	3391	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1020					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.3058G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	16.35	3.099714	0.56183	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.11604	2.93;3.07;2.76	5.46	4.43	0.53597	Armadillo-type fold (1);	0.052520	0.85682	D	0.000000	T	0.15565	0.0375	M	0.81497	2.545	0.80722	D	1	B;B;B;B	0.24426	0.011;0.103;0.0;0.0	B;B;B;B	0.20384	0.006;0.029;0.002;0.004	T	0.02059	-1.1221	10	0.27785	T	0.31	.	12.2468	0.54574	0.0736:0.1327:0.7937:0.0	.	1020;70;1020;1020	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	K	1020;1020;686	ENSP00000351015:E1020K;ENSP00000348498:E1020K;ENSP00000389907:E686K	ENSP00000348498:E1020K	E	+	1	0	NF1	26581471	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	6.312000	0.72840	2.550000	0.86006	0.455000	0.32223	GAA		0.333	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267		36	42	0	0	0	0.013726	0	36	42		
SYNRG	11276	broad.mit.edu	37	17	35914064	35914064	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:35914064T>A	ENST00000339208.6	-	14	1901	c.1761A>T	c.(1759-1761)aaA>aaT	p.K587N	SYNRG_ENST00000346661.4_Missense_Mutation_p.K587N|SYNRG_ENST00000585472.1_Missense_Mutation_p.K508N|SYNRG_ENST00000394378.2_Missense_Mutation_p.K509N|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000345615.4_Missense_Mutation_p.K509N|SYNRG_ENST00000591288.1_Missense_Mutation_p.K426N|SYNRG_ENST00000502449.2_Missense_Mutation_p.K509N	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	587	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGTTTTGTCTTTTGTTGGTG	0.408																																						uc002hoa.2		NaN																	0				ovary(2)	2						c.(1759-1761)AAA>AAT		synergin, gamma isoform 1							273.0	260.0	264.0					17																	35914064		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35914064T>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1761A>T	17.37:g.35914064T>A	ENSP00000343610:p.Lys587Asn					SYNRG_uc010wde.1_Missense_Mutation_p.K509N|SYNRG_uc010wdf.1_Missense_Mutation_p.K509N|SYNRG_uc002hoc.2_Missense_Mutation_p.K508N|SYNRG_uc002hoe.2_Missense_Mutation_p.K509N|SYNRG_uc002hod.2_Missense_Mutation_p.K509N|SYNRG_uc010wdg.1_Missense_Mutation_p.K426N|SYNRG_uc002hob.2_Missense_Mutation_p.K587N|SYNRG_uc002hof.2_Missense_Mutation_p.K299N|SYNRG_uc010cvd.1_Missense_Mutation_p.K387N	p.K587N	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			14	1844	-			587			Interaction with A1P1G1 and A1P1G2.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.1761A>T	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.389364	0.42410	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.49720	1.35;0.78;0.77	6.08	3.89	0.44902	.	0.430964	0.29861	N	0.011004	T	0.50343	0.1610	L	0.56769	1.78	0.41455	D	0.988009	P;P;P;P;P;P	0.50369	0.835;0.835;0.835;0.835;0.934;0.934	P;P;P;P;P;P	0.52646	0.466;0.65;0.65;0.65;0.705;0.705	T	0.45338	-0.9268	10	0.40728	T	0.16	-12.516	5.8598	0.18740	0.0:0.1419:0.1401:0.718	.	426;509;509;509;587;587	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	N	587;426;587;509;509	ENSP00000005279:K587N;ENSP00000424893:K509N;ENSP00000377903:K509N	ENSP00000343610:K426N	K	-	3	2	SYNRG	32988177	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	0.861000	0.27885	0.554000	0.29061	-0.256000	0.11100	AAA		0.408	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2		NM_007247		79	33	0	0	0	0.01441	0	79	33		
FZD2	2535	broad.mit.edu	37	17	42635140	42635140	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:42635140G>A	ENST00000315323.3	+	1	216	c.84G>A	c.(82-84)gaG>gaA	p.E28E		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	28					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCCACGGGGAGAAGGGCATCT	0.721																																						uc002igx.1		NaN																	0				ovary(2)|lung(1)	3						c.(82-84)GAG>GAA		frizzled 2 precursor							65.0	59.0	61.0					17																	42635140		2203	4300	6503	SO:0001819	synonymous_variant	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42635140G>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.84G>A	17.37:g.42635140G>A							p.E28E	NM_001466	NP_001457	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	216	+		Prostate(33;0.0181)	28			Extracellular (Potential).		Q0VG82	Silent	SNP	ENST00000315323.3	37	c.84G>A	CCDS11484.1																																																																																				0.721	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1		NM_001466		15	34	0	0	0	0.004007	0	15	34		
ADAM11	4185	broad.mit.edu	37	17	42853520	42853520	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:42853520G>A	ENST00000200557.6	+	18	1680	c.1511G>A	c.(1510-1512)cGa>cAa	p.R504Q	ADAM11_ENST00000535346.1_Missense_Mutation_p.R304Q	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	504	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GTGTCCTGCCGAGAGGCCGTG	0.697																																						uc002ihh.2		NaN																	0				pancreas(1)	1						c.(1510-1512)CGA>CAA		ADAM metallopeptidase domain 11 preproprotein							90.0	96.0	94.0					17																	42853520		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42853520G>A	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1511G>A	17.37:g.42853520G>A	ENSP00000200557:p.Arg504Gln					ADAM11_uc010wjd.1_Missense_Mutation_p.R304Q|ADAM11_uc002ihi.2_5'Flank	p.R504Q	NM_002390	NP_002381	O75078	ADA11_HUMAN			18	1511	+		Prostate(33;0.0959)	504			Extracellular (Potential).|Disintegrin.		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.1511G>A	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	37	6.159860	0.97334	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.18016	2.24;2.24	4.48	4.48	0.54585	Disintegrin, conserved site (1);Blood coagulation inhibitor, Disintegrin (6);	0.078834	0.52532	D	0.000078	T	0.48978	0.1530	M	0.89030	3	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.99;0.997	T	0.60271	-0.7296	10	0.87932	D	0	.	16.1505	0.81618	0.0:0.0:1.0:0.0	.	304;504	B4DKD2;O75078	.;ADA11_HUMAN	Q	504;304;404	ENSP00000200557:R504Q;ENSP00000443773:R304Q	ENSP00000200557:R504Q	R	+	2	0	ADAM11	40209046	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.465000	0.80898	2.335000	0.79485	0.536000	0.68110	CGA		0.697	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1		NM_002390		62	77	0	0	0	0.01441	0	62	77		
KIF18B	146909	broad.mit.edu	37	17	43012728	43012728	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:43012728C>T	ENST00000593135.1	-	3	467	c.370G>A	c.(370-372)Ggg>Agg	p.G124R	KIF18B_ENST00000339151.4_Missense_Mutation_p.G124R|KIF18B_ENST00000590129.1_Missense_Mutation_p.G133R|KIF18B_ENST00000438933.2_Missense_Mutation_p.G124R|KIF18B_ENST00000587309.1_Missense_Mutation_p.G124R	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	133	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CCGGGGTCCCCCTCCCTTCCC	0.627																																						uc010wji.1		NaN																	0				ovary(2)	2						c.(370-372)GGG>AGG		kinesin family member 18B							84.0	93.0	90.0					17																	43012728		2027	4162	6189	SO:0001583	missense	146909							g.chr17:43012728C>T		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.370G>A	17.37:g.43012728C>T	ENSP00000465992:p.Gly124Arg					KIF18B_uc002iht.2_Missense_Mutation_p.G124R|KIF18B_uc010wjh.1_Missense_Mutation_p.G124R	p.G124R	NM_001080443	NP_001073912					3	471	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	ENST00000593135.1	37	c.370G>A	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512814	0.27123	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.72725	-0.68;-0.68	5.37	1.04	0.20106	Kinesin, motor domain (4);	0.228516	0.22442	N	0.060009	T	0.50463	0.1617	L	0.28504	0.86	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.12837	0.005;0.008;0.003	T	0.24083	-1.0170	10	0.16896	T	0.51	.	6.0826	0.19950	0.0:0.4972:0.23:0.2728	.	133;133;133	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	R	124	ENSP00000412798:G124R;ENSP00000341466:G124R	ENSP00000341466:G124R	G	-	1	0	KIF18B	40368254	0.000000	0.05858	0.970000	0.41538	0.981000	0.71138	0.055000	0.14229	0.252000	0.21531	0.455000	0.32223	GGG		0.627	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1		NM_001080443		29	19	0	0	0	0.00632	0	29	19		
NSF	4905	broad.mit.edu	37	17	44788430	44788430	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:44788430G>A	ENST00000398238.4	+	14	1679	c.1572G>A	c.(1570-1572)ctG>ctA	p.L524L	NSF_ENST00000225282.8_Silent_p.L430L|NSF_ENST00000575068.1_Silent_p.L519L	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	524					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		GGGAGCTGCTGGTGCAGCAGA	0.443																																					Ovarian(25;472 742 1472 36813 50223)	uc002iku.2		NaN																	0				ovary(1)	1						c.(1570-1572)CTG>CTA		vesicle-fusing ATPase							75.0	76.0	76.0					17																	44788430		2048	4207	6255	SO:0001819	synonymous_variant	4905				protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	g.chr17:44788430G>A		CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1572G>A	17.37:g.44788430G>A						NSF_uc010wke.1_Silent_p.L430L|NSF_uc010wkf.1_Silent_p.L430L|NSF_uc010wkg.1_Silent_p.L519L	p.L524L	NM_006178	NP_006169	P46459	NSF_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	14	1676	+		Melanoma(429;0.203)	524					A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Silent	SNP	ENST00000398238.4	37	c.1572G>A	CCDS42354.1																																																																																				0.443	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2		NM_006178		28	24	0	0	0	0.008361	0	28	24		
HOXB1	3211	broad.mit.edu	37	17	46607197	46607197	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:46607197G>A	ENST00000239174.6	-	2	710	c.618C>T	c.(616-618)ctC>ctT	p.L206L	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	206					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGTTGGTGCGGAGGCCACTGG	0.607																																						uc002ink.1		NaN																	0				ovary(1)	1						c.(616-618)CTC>CTT		homeobox B1							92.0	96.0	94.0					17																	46607197		2203	4300	6503	SO:0001819	synonymous_variant	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607197G>A		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.618C>T	17.37:g.46607197G>A							p.L206L	NM_002144	NP_002135	P14653	HXB1_HUMAN			2	624	-			206			Homeobox.		Q4VB03	Silent	SNP	ENST00000239174.6	37	c.618C>T	CCDS32675.1																																																																																				0.607	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3				38	115	0	0	0	0.006999	0	38	115		
MTMR4	9110	broad.mit.edu	37	17	56582854	56582854	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:56582854C>T	ENST00000323456.5	-	11	1206	c.1082G>A	c.(1081-1083)aGc>aAc	p.S361N	MTMR4_ENST00000579925.1_Missense_Mutation_p.S361N	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	361	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGGCATCTGGCTACACACAGC	0.498																																						uc002iwj.2		NaN																	0				skin(1)	1						c.(1081-1083)AGC>AAC		myotubularin related protein 4							122.0	104.0	110.0					17																	56582854		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56582854C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1082G>A	17.37:g.56582854C>T	ENSP00000325285:p.Ser361Asn						p.S361N	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			11	1192	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		361			Myotubularin phosphatase.		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.1082G>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707840	0.68615	.	.	ENSG00000108389	ENST00000323456	D	0.90197	-2.63	5.42	5.42	0.78866	Myotubularin phosphatase domain (1);	0.080753	0.85682	D	0.000000	D	0.85940	0.5814	L	0.31476	0.935	0.45515	D	0.998471	P	0.36027	0.533	B	0.39379	0.298	D	0.85278	0.1060	10	0.48119	T	0.1	.	11.9768	0.53096	0.0:0.9208:0.0:0.0792	.	361	Q9NYA4	MTMR4_HUMAN	N	361	ENSP00000325285:S361N	ENSP00000325285:S361N	S	-	2	0	MTMR4	53937853	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.570000	0.60872	2.717000	0.92951	0.650000	0.86243	AGC		0.498	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1		NM_004687		12	45	0	0	0	0.010729	0	12	45		
RECQL5	9400	broad.mit.edu	37	17	73623551	73623551	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:73623551C>A	ENST00000317905.5	-	20	3086	c.2927G>T	c.(2926-2928)cGg>cTg	p.R976L	RECQL5_ENST00000423245.2_Missense_Mutation_p.R949L|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	976					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCTCTCGCACCGGGCCCGGCC	0.632								Other identified genes with known or suspected DNA repair function																														uc010dgl.2		NaN																	0				kidney(3)	3						c.(2926-2928)CGG>CTG	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1							69.0	79.0	75.0					17																	73623551		2031	4177	6208	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73623551C>A	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2927G>T	17.37:g.73623551C>A	ENSP00000317636:p.Arg976Leu					RECQL5_uc010dgk.2_Missense_Mutation_p.R949L|RECQL5_uc002jot.3_Missense_Mutation_p.R172L	p.R976L	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		20	3083	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		976					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.2927G>T	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895500	0.33442	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.63580	-0.05	5.23	4.25	0.50352	.	0.069436	0.56097	D	0.000034	T	0.72914	0.3520	M	0.63843	1.955	0.27658	N	0.947166	D;D;D	0.89917	0.963;0.963;1.0	P;P;D	0.77557	0.622;0.622;0.99	T	0.65545	-0.6142	10	0.66056	D	0.02	-22.1435	8.4296	0.32750	0.0:0.7651:0.0:0.2349	.	976;949;172	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	L	571;976;976	ENSP00000317636:R976L	ENSP00000317636:R976L	R	-	2	0	RECQL5	71135146	0.774000	0.28592	0.453000	0.27007	0.852000	0.48524	2.273000	0.43381	1.201000	0.43203	0.563000	0.77884	CGG		0.632	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259		41	47	1	0	4.17593e-13	0.007835	4.42062e-13	41	47		
TMC6	11322	broad.mit.edu	37	17	76122887	76122887	+	Silent	SNP	G	G	A	rs145198906		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:76122887G>A	ENST00000590602.1	-	2	186	c.27C>T	c.(25-27)ctC>ctT	p.L9L	TMC6_ENST00000322914.3_Silent_p.L9L|TMC6_ENST00000306591.7_Silent_p.L9L|TMC6_ENST00000589553.1_Intron|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000392467.3_Silent_p.L9L			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	9					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGGGACATCGAGGATGAAGG	0.667																																						uc002juj.1		NaN																	0					0						c.(25-27)CTC>CTT		transmembrane channel-like 6		G	,	0,4406		0,0,2203	40.0	39.0	39.0		27,27	-0.7	0.0	17	dbSNP_134	39	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	TMC6	NM_001127198.1,NM_007267.6	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	9/806,9/806	76122887	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	11322	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76122887G>A	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.27C>T	17.37:g.76122887G>A						TMC6_uc010dhf.1_5'UTR|TMC6_uc002juk.2_Silent_p.L9L|TMC6_uc010dhg.1_Silent_p.L9L|TMC6_uc002jul.1_Silent_p.L9L|TMC6_uc002jum.3_5'Flank|TMC6_uc002jun.3_Silent_p.L9L|TMC6_uc002juo.2_Intron|TMC6_uc010wtp.1_5'Flank|TMC6_uc010wtq.1_Silent_p.L9L	p.L9L	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		1	153	-			9			Lumenal (Potential).		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	ENST00000590602.1	37	c.27C>T	CCDS32748.1																																																																																				0.667	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1				6	23	0	0	0	0.001984	0	6	23		
NDC80	10403	broad.mit.edu	37	18	2578122	2578122	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:2578122G>A	ENST00000261597.4	+	5	640	c.458G>A	c.(457-459)aGa>aAa	p.R153K		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	153	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GAGGTTCCAAGAATCTTTAAA	0.363																																						uc002kli.2		NaN																	0				ovary(1)	1						c.(457-459)AGA>AAA		kinetochore associated 2							98.0	96.0	96.0					18																	2578122		2203	4300	6503	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2578122G>A	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.458G>A	18.37:g.2578122G>A	ENSP00000261597:p.Arg153Lys						p.R153K	NM_006101	NP_006092	O14777	NDC80_HUMAN			5	640	+			153			Interaction with the N-terminus of CDCA1.|Nuclear localization.|Interaction with RB1.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.458G>A	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827020	0.32329	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.40476	1.03	5.8	5.8	0.92144	.	0.094831	0.64402	D	0.000001	T	0.31979	0.0814	L	0.52206	1.635	0.47905	D	0.999548	B	0.27450	0.179	B	0.21360	0.034	T	0.11324	-1.0592	10	0.02654	T	1	-17.4675	12.7661	0.57393	0.1168:0.0:0.8832:0.0	.	153	O14777	NDC80_HUMAN	K	153	ENSP00000261597:R153K	ENSP00000261597:R153K	R	+	2	0	NDC80	2568122	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.805000	0.47939	2.744000	0.94065	0.655000	0.94253	AGA		0.363	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1		NM_006101		61	61	0	0	0	0.01441	0	61	61		
LAMA1	284217	broad.mit.edu	37	18	7013975	7013975	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:7013975T>C	ENST00000389658.3	-	23	3295	c.3202A>G	c.(3202-3204)Aaa>Gaa	p.K1068E		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1068	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCACCAAATTTTGACTTGCAC	0.572																																						uc002knm.2		NaN																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(3202-3204)AAA>GAA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						45.0	37.0	40.0					18																	7013975		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7013975T>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3202A>G	18.37:g.7013975T>C	ENSP00000374309:p.Lys1068Glu					LAMA1_uc010wzj.1_Missense_Mutation_p.K544E	p.K1068E	NM_005559	NP_005550	P25391	LAMA1_HUMAN			23	3296	-		Colorectal(10;0.172)	1068			Laminin EGF-like 12.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3202A>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	3.565	-0.088865	0.07097	.	.	ENSG00000101680	ENST00000389658	T	0.61274	0.12	5.91	1.75	0.24633	EGF-like, laminin (4);	0.558452	0.17300	N	0.179273	T	0.23766	0.0575	N	0.00879	-1.12	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.22661	-1.0210	10	0.28530	T	0.3	.	9.3516	0.38142	0.0:0.6833:0.0:0.3167	.	1068	P25391	LAMA1_HUMAN	E	1068	ENSP00000374309:K1068E	ENSP00000374309:K1068E	K	-	1	0	LAMA1	7003975	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.865000	0.27940	0.014000	0.14944	-0.255000	0.11280	AAA		0.572	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559		5	27	0	0	0	0.001168	0	5	27		
CHMP1B	57132	broad.mit.edu	37	18	11852005	11852005	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:11852005C>G	ENST00000526991.2	+	1	611	c.495C>G	c.(493-495)aaC>aaG	p.N165K	GNAL_ENST00000334049.6_Intron|RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000423027.3_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	165					cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|lung(1)|urinary_tract(1)	3						TCGACCTCAACATGGAGCTGC	0.627																																						uc002kqe.2		NaN																	0					0						c.(493-495)AAC>AAG		chromatin modifying protein 1B							19.0	24.0	22.0					18																	11852005		2029	4164	6193	SO:0001583	missense	57132				cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr18:11852005C>G	AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"""Charged multivesicular body proteins"""	24287	protein-coding gene	gene with protein product		606486	"""chromatin modifying protein 1B"""			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	ENST00000526991.2:c.495C>G	18.37:g.11852005C>G	ENSP00000432279:p.Asn165Lys					GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron	p.N165K	NM_020412	NP_065145	Q7LBR1	CHM1B_HUMAN			1	617	+			165					Q96E89|Q9HD41	Missense_Mutation	SNP	ENST00000526991.2	37	c.495C>G	CCDS54180.1	.	.	.	.	.	.	.	.	.	.	C	6.070	0.381224	0.11466	.	.	ENSG00000255112	ENST00000526991	T	0.71579	-0.58	5.07	4.2	0.49525	.	.	.	.	.	T	0.59514	0.2199	L	0.45228	1.405	0.53688	D	0.999972	B	0.06786	0.001	B	0.10450	0.005	T	0.52946	-0.8507	9	0.13108	T	0.6	.	11.8154	0.52207	0.0:0.9146:0.0:0.0854	.	165	Q7LBR1	CHM1B_HUMAN	K	165	ENSP00000432279:N165K	ENSP00000432279:N165K	N	+	3	2	CHMP1B	11842005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.423000	0.52756	1.509000	0.48786	0.655000	0.94253	AAC		0.627	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386375.2		NM_020412		16	15	0	0	0	0.004007	0	16	15		
AFG3L2	10939	broad.mit.edu	37	18	12358835	12358835	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:12358835C>A	ENST00000269143.3	-	8	1091	c.860G>T	c.(859-861)gGa>gTa	p.G287V		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	287					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ACTGAAGAGTCCGCCCATCCC	0.547																																						uc002kqz.1		NaN																	0					0						c.(859-861)GGA>GTA		AFG3 ATPase family gene 3-like 2	Adenosine triphosphate(DB00171)						95.0	85.0	88.0					18																	12358835		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12358835C>A	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.860G>T	18.37:g.12358835C>A	ENSP00000269143:p.Gly287Val						p.G287V	NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN			8	973	-			287					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.860G>T	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792310	0.90453	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	T	0.41400	1.0	5.45	5.45	0.79879	Peptidase M41, FtsH (2);	0.097562	0.64402	D	0.000001	T	0.74512	0.3726	H	0.94847	3.59	0.80722	D	1	D	0.67145	0.996	D	0.67725	0.953	T	0.81927	-0.0709	10	0.62326	D	0.03	.	19.2802	0.94050	0.0:1.0:0.0:0.0	.	287	Q9Y4W6	AFG32_HUMAN	V	287;302	ENSP00000269143:G287V	ENSP00000269143:G287V	G	-	2	0	AFG3L2	12348835	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.487000	0.81328	2.547000	0.85894	0.563000	0.77884	GGA		0.547	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2		NM_006796		15	59	1	0	7.07596e-05	0.006122	7.24985e-05	15	59		
RIOK3	8780	broad.mit.edu	37	18	21046190	21046190	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:21046190G>A	ENST00000339486.3	+	6	1254	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	RIOK3_ENST00000577501.1_Missense_Mutation_p.E213K|RIOK3_ENST00000581585.1_Missense_Mutation_p.E197K	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	213					chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCCTACTCAGAAGAACGTCG	0.353																																						uc002kui.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(637-639)GAA>AAA		sudD suppressor of bimD6 homolog							84.0	82.0	82.0					18																	21046190		2203	4300	6503	SO:0001583	missense	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21046190G>A	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.637G>A	18.37:g.21046190G>A	ENSP00000341874:p.Glu213Lys					RIOK3_uc010dls.2_Missense_Mutation_p.E213K|RIOK3_uc010xas.1_Missense_Mutation_p.E197K|RIOK3_uc010xat.1_Silent_p.Q4Q	p.E213K	NM_003831	NP_003822	O14730	RIOK3_HUMAN			6	1254	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		213					Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	c.637G>A	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833025	0.71258	.	.	ENSG00000101782	ENST00000339486	T	0.07800	3.16	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	L	0.50847	1.595	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.74348	0.94;0.983;0.962	T	0.00080	-1.2110	10	0.33940	T	0.23	-19.0714	20.1056	0.97893	0.0:0.0:1.0:0.0	.	197;213;213	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	K	213	ENSP00000341874:E213K	ENSP00000341874:E213K	E	+	1	0	RIOK3	19300188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.590000	0.98238	2.753000	0.94483	0.585000	0.79938	GAA		0.353	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1		NM_003831		19	46	0	0	0	0.010504	0	19	46		
MALT1	10892	broad.mit.edu	37	18	56390406	56390406	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:56390406C>T	ENST00000348428.3	+	10	1403	c.1145C>T	c.(1144-1146)tCa>tTa	p.S382L	MALT1_ENST00000345724.3_Missense_Mutation_p.S371L|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	382	Caspase-like.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)	p.S371L(1)		central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AAAGTGGTTTCACTGTTGGAT	0.393			T	BIRC3	MALT																																	uc002lhm.1		NaN		Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		1	Substitution - Missense(1)	p.S371L(1)	lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1144-1146)TCA>TTA		mucosa associated lymphoid tissue lymphoma							213.0	194.0	201.0					18																	56390406		2203	4300	6503	SO:0001583	missense	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56390406C>T		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	ENST00000348428.3:c.1145C>T	18.37:g.56390406C>T	ENSP00000319279:p.Ser382Leu					MALT1_uc002lhn.1_Missense_Mutation_p.S371L	p.S382L	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN			10	1403	+			382			Caspase-like.		Q9NTB7|Q9ULX4	Missense_Mutation	SNP	ENST00000348428.3	37	c.1145C>T	CCDS11967.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429724	0.83776	.	.	ENSG00000172175	ENST00000348428;ENST00000345724	T;T	0.20881	2.04;2.04	5.7	5.7	0.88788	Peptidase C14, caspase catalytic (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.38746	0.1052	L	0.33093	0.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.05616	-1.0874	10	0.51188	T	0.08	.	19.434	0.94783	0.0:1.0:0.0:0.0	.	371;382	Q9UDY8-2;Q9UDY8	.;MALT1_HUMAN	L	382;371	ENSP00000319279:S382L;ENSP00000304161:S371L	ENSP00000304161:S371L	S	+	2	0	MALT1	54541386	1.000000	0.71417	0.218000	0.23776	0.564000	0.35744	7.441000	0.80485	2.703000	0.92315	0.655000	0.94253	TCA		0.393	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2				21	34	0	0	0	0.014323	0	21	34		
NFATC1	4772	broad.mit.edu	37	18	77210968	77210968	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:77210968G>C	ENST00000427363.2	+	5	1604	c.1604G>C	c.(1603-1605)gGa>gCa	p.G535A	NFATC1_ENST00000253506.5_Missense_Mutation_p.G535A|NFATC1_ENST00000542384.1_Missense_Mutation_p.G535A|NFATC1_ENST00000586434.1_Missense_Mutation_p.G522A|NFATC1_ENST00000587635.1_Missense_Mutation_p.G535A|NFATC1_ENST00000329101.4_Missense_Mutation_p.G522A|NFATC1_ENST00000318065.5_Missense_Mutation_p.G522A|NFATC1_ENST00000592223.1_Missense_Mutation_p.G522A|NFATC1_ENST00000397790.2_Missense_Mutation_p.G63A|NFATC1_ENST00000545796.1_Missense_Mutation_p.G63A|NFATC1_ENST00000591814.1_Missense_Mutation_p.G535A			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	535	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GACTGTGCCGGAATCCTGAAA	0.562																																					GBM(151;1210 2593 28719 45011)	uc010xfg.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1603-1605)GGA>GCA		nuclear factor of activated T-cells, cytosolic							107.0	117.0	114.0					18																	77210968		2203	4300	6503	SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77210968G>C	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1604G>C	18.37:g.77210968G>C	ENSP00000389377:p.Gly535Ala					NFATC1_uc002lnc.1_Missense_Mutation_p.G535A|NFATC1_uc010xff.1_Missense_Mutation_p.G535A|NFATC1_uc002lnd.2_Missense_Mutation_p.G535A|NFATC1_uc002lne.2_Missense_Mutation_p.G63A|NFATC1_uc010xfh.1_Missense_Mutation_p.G535A|NFATC1_uc010xfi.1_Missense_Mutation_p.G522A|NFATC1_uc010xfj.1_Missense_Mutation_p.G63A|NFATC1_uc002lnf.2_Missense_Mutation_p.G522A|NFATC1_uc002lng.2_Missense_Mutation_p.G522A|NFATC1_uc010xfk.1_Missense_Mutation_p.G522A	p.G535A	NM_006162	NP_006153	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	5	2057	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	535			RHD.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.1604G>C		.	.	.	.	.	.	.	.	.	.	G	20.9	4.065196	0.76187	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	4.78	4.78	0.61160	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91345	0.7270	M	0.89478	3.035	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.93241	0.6626	10	0.87932	D	0	-33.3927	17.8281	0.88672	0.0:0.0:1.0:0.0	.	522;522;535;535;535;522;535	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	A	535;535;63;535;522;63;522;499	ENSP00000253506:G535A;ENSP00000380892:G63A;ENSP00000442435:G535A;ENSP00000327850:G522A;ENSP00000439992:G63A	ENSP00000253506:G535A	G	+	2	0	NFATC1	75311956	1.000000	0.71417	0.261000	0.24466	0.710000	0.40934	9.394000	0.97261	2.214000	0.71695	0.655000	0.94253	GGA		0.562	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1		NM_172390		46	81	0	0	0	0.013114	0	46	81		
MIDN	90007	broad.mit.edu	37	19	1257191	1257191	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:1257191G>A	ENST00000591446.2	+	7	1736	c.1327G>A	c.(1327-1329)Ggc>Agc	p.G443S	CIRBP_ENST00000588030.1_5'Flank|MIDN_ENST00000300952.2_Missense_Mutation_p.G443S			Q504T8	MIDN_HUMAN	midnolin	443						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CGAGGCCTCCGGCTTGGGCCT	0.682																																						uc002lrp.2		NaN																	0					0						c.(1327-1329)GGC>AGC		midnolin							32.0	35.0	34.0					19																	1257191		2202	4296	6498	SO:0001583	missense	90007					nucleolus		g.chr19:1257191G>A	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1327G>A	19.37:g.1257191G>A	ENSP00000467679:p.Gly443Ser						p.G443S	NM_177401	NP_796375	Q504T8	MIDN_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)	8	1842	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	443					Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	c.1327G>A	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	g	2.668	-0.278250	0.05679	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.63	2.55	0.30701	.	0.314770	0.29767	U	0.011245	T	0.06005	0.0156	N	0.02539	-0.55	0.27095	N	0.962767	P	0.37466	0.596	B	0.33690	0.168	T	0.28681	-1.0036	9	0.02654	T	1	-26.1294	2.9677	0.05912	0.2139:0.0:0.5544:0.2317	.	443	Q504T8	MIDN_HUMAN	S	443	.	ENSP00000300952:G443S	G	+	1	0	MIDN	1208191	0.996000	0.38824	0.100000	0.21137	0.015000	0.08874	3.016000	0.49607	0.701000	0.31803	-0.513000	0.04457	GGC		0.682	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2				29	18	0	0	0	0.008361	0	29	18		
EEF2	1938	broad.mit.edu	37	19	3982047	3982047	+	Silent	SNP	G	G	A	rs532385897		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:3982047G>A	ENST00000309311.6	-	6	883	c.795C>T	c.(793-795)taC>taT	p.Y265Y	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'Flank	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	265	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGTCAAAGTACCTGGCAA	0.592																																					Colon(165;1804 1908 4071 6587 18799)	uc002lze.2		NaN																	0					0						c.(793-795)TAC>TAT		eukaryotic translation elongation factor 2							89.0	81.0	84.0					19																	3982047		2203	4300	6503	SO:0001819	synonymous_variant	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3982047G>A	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.795C>T	19.37:g.3982047G>A							p.Y265Y	NM_001961	NP_001952	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	6	878	-		Hepatocellular(1079;0.137)	265					B2RMP5|D6W618|Q58J86	Silent	SNP	ENST00000309311.6	37	c.795C>T	CCDS12117.1																																																																																				0.592	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2		NM_001961		31	29	0	0	0	0.009535	0	31	29		
MPND	84954	broad.mit.edu	37	19	4359177	4359177	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:4359177C>T	ENST00000262966.8	+	11	1321	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	MPND_ENST00000359935.4_Silent_p.F398F|MPND_ENST00000599840.1_Silent_p.F448F|AC007292.3_ENST00000593524.1_RNA	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	418							peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTGGAGTTCTACAAGGGTT	0.612																																						uc002mae.2		NaN																	0				breast(1)	1						c.(1252-1254)TTC>TTT		MPN domain containing isoform 1							68.0	74.0	72.0					19																	4359177		2009	4164	6173	SO:0001819	synonymous_variant	84954						peptidase activity	g.chr19:4359177C>T		CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.1254C>T	19.37:g.4359177C>T						MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Silent_p.F398F|MPND_uc002maf.2_Silent_p.F448F|MPND_uc002mah.2_Silent_p.F306F|MPND_uc002mai.2_Silent_p.F307F	p.F418F	NM_032868	NP_116257	Q8N594	MPND_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1321	+			418					Q96SJ0|Q9Y2P1|Q9Y2P2	Silent	SNP	ENST00000262966.8	37	c.1254C>T	CCDS42470.1																																																																																				0.612	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1		NM_032868		31	38	0	0	0	0.012213	0	31	38		
SH3GL1	6455	broad.mit.edu	37	19	4366967	4366967	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:4366967C>A	ENST00000269886.3	-	2	248	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S	SH3GL1_ENST00000598564.1_Missense_Mutation_p.A24S|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Missense_Mutation_p.A24S	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	24	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GTCCCCTCGGCCCCTCCGACC	0.597			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	uc002maj.2		NaN		Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				ovary(2)	2						c.(70-72)GCC>TCC		SH3-domain GRB2-like 1							305.0	265.0	278.0					19																	4366967		2203	4300	6503	SO:0001583	missense	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4366967C>A		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.70G>T	19.37:g.4366967C>A	ENSP00000269886:p.Ala24Ser					SH3GL1_uc002mak.2_Missense_Mutation_p.A24S|SH3GL1_uc010xig.1_Missense_Mutation_p.A24S	p.A24S	NM_003025	NP_003016	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	2	176	-			24			BAR.		B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	ENST00000269886.3	37	c.70G>T	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	27.9	4.871061	0.91587	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.68025	-0.3;1.35	4.64	4.64	0.57946	BAR (3);	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	M	0.80422	2.495	0.80722	D	1	P;B;B	0.40000	0.698;0.108;0.108	P;B;B	0.48524	0.58;0.326;0.326	T	0.81444	-0.0930	10	0.72032	D	0.01	-1.7296	16.4683	0.84092	0.0:1.0:0.0:0.0	.	24;24;24	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	S	24	ENSP00000269886:A24S;ENSP00000404568:A24S	ENSP00000269886:A24S	A	-	1	0	SH3GL1	4317967	1.000000	0.71417	0.264000	0.24511	0.956000	0.61745	7.761000	0.85260	2.113000	0.64589	0.561000	0.74099	GCC		0.597	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1		NM_003025		45	143	1	0	1.48734e-19	0.013114	1.60585e-19	45	143		
ARHGEF18	23370	broad.mit.edu	37	19	7518413	7518413	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:7518413C>G	ENST00000359920.6	+	7	1605	c.1352C>G	c.(1351-1353)tCa>tGa	p.S451*	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.H409D|ARHGEF18_ENST00000319670.9_Nonsense_Mutation_p.S293*	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	451	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GATATCATCTCACAAGTGGAC	0.522																																						uc002mgi.2		NaN																	0				ovary(1)	1						c.(1351-1353)TCA>TGA		Rho/Rac guanine nucleotide exchange factor 18							122.0	116.0	118.0					19																	7518413		2203	4300	6503	SO:0001587	stop_gained	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7518413C>G	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1352C>G	19.37:g.7518413C>G	ENSP00000352995:p.Ser451*					ARHGEF18_uc010xjm.1_Nonsense_Mutation_p.S293*|ARHGEF18_uc002mgh.2_Nonsense_Mutation_p.S293*|ARHGEF18_uc002mgj.1_Nonsense_Mutation_p.S94*	p.S451*	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN			7	1605	+		Renal(5;0.0902)	451			DH.		A8MV62|B5ME81|O60274|Q6DD92	Nonsense_Mutation	SNP	ENST00000359920.6	37	c.1352C>G	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	C	37	6.445081	0.97572	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	.	.	.	5.4	5.4	0.78164	.	0.126383	0.34725	N	0.003727	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.407	16.7459	0.85471	0.0:1.0:0.0:0.0	.	.	.	.	X	293;451	.	ENSP00000319200:S293X	S	+	2	0	ARHGEF18	7424413	0.301000	0.24444	0.971000	0.41717	0.898000	0.52572	0.883000	0.28200	2.565000	0.86533	0.537000	0.68136	TCA		0.522	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1		NM_015318		21	74	0	0	0	0.008871	0	21	74		
YIPF2	78992	broad.mit.edu	37	19	11038321	11038321	+	Silent	SNP	G	G	A	rs374465630		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:11038321G>A	ENST00000586748.1	-	4	436	c.264C>T	c.(262-264)gaC>gaT	p.D88D	C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000590329.1_Silent_p.D88D|YIPF2_ENST00000253031.2_Silent_p.D88D			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	88						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						AGGTGTCCACGTCAAAGAAGC	0.607																																						uc002mqb.2		NaN																	0					0						c.(262-264)GAC>GAT		Yip1 domain family, member 2							100.0	87.0	91.0					19																	11038321		2203	4300	6503	SO:0001819	synonymous_variant	78992					integral to membrane|transport vesicle		g.chr19:11038321G>A	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.264C>T	19.37:g.11038321G>A						YIPF2_uc002mqc.2_Silent_p.D88D|C19orf52_uc002mqd.1_5'Flank	p.D88D	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN			4	388	-			88			Cytoplasmic (Potential).			Silent	SNP	ENST00000586748.1	37	c.264C>T	CCDS12251.1																																																																																				0.607	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1		NM_024029		22	25	0	0	0	0.012319	0	22	25		
TRMT1	55621	broad.mit.edu	37	19	13220477	13220477	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13220477C>A	ENST00000592062.1	-	12	1768	c.1198G>T	c.(1198-1200)Gag>Tag	p.E400*	TRMT1_ENST00000437766.1_Nonsense_Mutation_p.E400*|TRMT1_ENST00000221504.8_Nonsense_Mutation_p.E371*|TRMT1_ENST00000357720.4_Nonsense_Mutation_p.E400*			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	400	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGGATGGGCTCTGCCCACATG	0.652																																						uc002mwj.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1198-1200)GAG>TAG		tRNA methyltransferase 1 isoform 1							48.0	52.0	51.0					19																	13220477		2203	4300	6503	SO:0001587	stop_gained	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13220477C>A	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1198G>T	19.37:g.13220477C>A	ENSP00000466967:p.Glu400*					TRMT1_uc010xmy.1_Nonsense_Mutation_p.E4*|TRMT1_uc002mwk.2_Nonsense_Mutation_p.E371*|TRMT1_uc002mwl.3_Nonsense_Mutation_p.E400*|TRMT1_uc010xmz.1_Nonsense_Mutation_p.E186*	p.E400*	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	10	1448	-			400					O76103|Q548Y5|Q8WVA6	Nonsense_Mutation	SNP	ENST00000592062.1	37	c.1198G>T	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	40	8.386579	0.98789	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-24.8805	15.585	0.76475	0.0:1.0:0.0:0.0	.	.	.	.	X	400;400;371	.	ENSP00000221504:E371X	E	-	1	0	TRMT1	13081477	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	7.121000	0.77160	2.287000	0.76781	0.462000	0.41574	GAG		0.652	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2		NM_017722		21	56	1	0	4.54149e-19	0.014323	4.89361e-19	21	56		
TRMT1	55621	broad.mit.edu	37	19	13223540	13223540	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13223540C>A	ENST00000592062.1	-	8	1419	c.849G>T	c.(847-849)aaG>aaT	p.K283N	TRMT1_ENST00000437766.1_Missense_Mutation_p.K283N|TRMT1_ENST00000221504.8_Missense_Mutation_p.K283N|TRMT1_ENST00000357720.4_Missense_Mutation_p.K283N|TRMT1_ENST00000592892.1_5'Flank			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	283	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGGCCCGGCTCTTGAGGGCCA	0.642																																						uc002mwj.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(847-849)AAG>AAT		tRNA methyltransferase 1 isoform 1							51.0	53.0	52.0					19																	13223540		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13223540C>A	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.849G>T	19.37:g.13223540C>A	ENSP00000466967:p.Lys283Asn					TRMT1_uc002mwk.2_Missense_Mutation_p.K283N|TRMT1_uc002mwl.3_Missense_Mutation_p.K283N|TRMT1_uc010xmz.1_Missense_Mutation_p.K69N	p.K283N	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	6	1099	-			283					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.849G>T	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754209	0.69648	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.99	1.64	0.23874	.	0.107766	0.64402	D	0.000009	T	0.64843	0.2635	L	0.53780	1.695	0.50632	D	0.999888	D;P	0.71674	0.998;0.935	D;P	0.69654	0.965;0.824	T	0.64063	-0.6495	9	0.72032	D	0.01	-30.8915	7.0608	0.25125	0.0:0.6357:0.0:0.3643	.	283;283	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	N	283	.	ENSP00000221504:K283N	K	-	3	2	TRMT1	13084540	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.576000	0.36504	0.697000	0.31718	-0.140000	0.14226	AAG		0.642	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2		NM_017722		16	78	1	0	1.02788e-11	0.00499	1.08599e-11	16	78		
TRMT1	55621	broad.mit.edu	37	19	13226568	13226568	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13226568C>G	ENST00000592062.1	-	5	895	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	TRMT1_ENST00000437766.1_Missense_Mutation_p.E109Q|NACC1_ENST00000292431.4_5'Flank|TRMT1_ENST00000221504.8_Missense_Mutation_p.E109Q|TRMT1_ENST00000357720.4_Missense_Mutation_p.E109Q|TRMT1_ENST00000592892.1_5'UTR			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	109	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GTGTCCTTCTCTCCTGGAACC	0.502																																						uc002mwj.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(325-327)GAG>CAG		tRNA methyltransferase 1 isoform 1							177.0	182.0	180.0					19																	13226568		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13226568C>G	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.325G>C	19.37:g.13226568C>G	ENSP00000466967:p.Glu109Gln					NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.E109Q|TRMT1_uc002mwl.3_Missense_Mutation_p.E109Q|TRMT1_uc010xmz.1_5'UTR	p.E109Q	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	3	575	-			109					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.325G>C	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721268	0.48728	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.9	4.9	0.64082	.	0.062086	0.64402	D	0.000006	T	0.67674	0.2918	L	0.42686	1.345	0.58432	D	0.999995	B;D	0.71674	0.39;0.998	B;D	0.69824	0.257;0.966	T	0.65380	-0.6182	9	0.37606	T	0.19	-32.8863	15.5997	0.76613	0.0:1.0:0.0:0.0	.	109;109	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	Q	109	.	ENSP00000221504:E109Q	E	-	1	0	TRMT1	13087568	0.999000	0.42202	0.998000	0.56505	0.280000	0.26924	4.928000	0.63447	2.545000	0.85829	0.563000	0.77884	GAG		0.502	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2		NM_017722		45	141	0	0	0	0.013114	0	45	141		
C19orf53	28974	broad.mit.edu	37	19	13882933	13882933	+	5'Flank	SNP	A	A	G	rs112124892	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:13882933A>G	ENST00000588234.1	+	0	0				CTB-5E10.3_ENST00000591826.1_RNA|MRI1_ENST00000319545.8_Splice_Site|MRI1_ENST00000040663.6_Splice_Site|CTB-5E10.3_ENST00000586297.1_RNA|C19orf53_ENST00000593274.1_5'Flank|CTB-5E10.3_ENST00000586894.1_RNA	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53											breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			TCTCCCCTGCAGGGATTGGAG	0.542																																						uc002mxe.2		NaN																	0				ovary(1)	1						c.e6-2		translation initiation factor eIF-2B subunit		A	,	1,4405	2.1+/-5.4	0,1,2202	94.0	84.0	87.0		,	4.7	1.0	19	dbSNP_132	87	0,8600		0,0,4300	no	splice-3,splice-3	MRI1	NM_001031727.2,NM_032285.2	,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,	,	13882933	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	84245				L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity	g.chr19:13882933A>G	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5			19.37:g.13882933A>G	Exception_encountered					MRI1_uc002mxf.2_Splice_Site_p.G270_splice|C19orf53_uc002mxg.2_5'Flank	p.G317_splice	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN			6	1016	+								B2R4J9	Splice_Site	SNP	ENST00000588234.1	37	c.950_splice	CCDS12298.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055195	0.75960	2.27E-4	0.0	ENSG00000037757	ENST00000040663;ENST00000319545	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1868	0.54243	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MRI1	13743933	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	8.673000	0.91186	1.774000	0.52232	0.397000	0.26171	.		0.542	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453621.1		NM_014047		33	28	0	0	0	0.013726	0	33	28		
DCAF15	90379	broad.mit.edu	37	19	14065247	14065247	+	Silent	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:14065247A>C	ENST00000254337.6	+	2	249	c.228A>C	c.(226-228)gcA>gcC	p.A76A	PODNL1_ENST00000538371.2_5'Flank|PODNL1_ENST00000588317.1_5'Flank|PODNL1_ENST00000538517.2_5'Flank	NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	76					protein ubiquitination (GO:0016567)			p.A76A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCCTCTATGCAGGGTGAGGCT	0.657																																						uc002mxt.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)	central_nervous_system(1)	1						c.(226-228)GCA>GCC		DDB1 and CUL4 associated factor 15							43.0	38.0	40.0					19																	14065247		2203	4300	6503	SO:0001819	synonymous_variant	90379							g.chr19:14065247A>C	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.228A>C	19.37:g.14065247A>C						PODNL1_uc010xnj.1_5'Flank|PODNL1_uc002mxs.2_5'Flank	p.A76A	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			2	234	+			76					B3KS86|Q96DW0|Q9BU31	Silent	SNP	ENST00000254337.6	37	c.228A>C	CCDS32926.1																																																																																				0.657	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1		NM_138353		10	38	0	0	0	0.006214	0	10	38		
CPAMD8	27151	broad.mit.edu	37	19	17132940	17132940	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:17132940G>A	ENST00000443236.1	-	2	316	c.285C>T	c.(283-285)gtC>gtT	p.V95V	CPAMD8_ENST00000388925.4_Silent_p.V48V	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	48						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCACGCTGATGACTTCCTCCA	0.602																																						uc002nfb.2		NaN																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(283-285)GTC>GTT		C3 and PZP-like, alpha-2-macroglobulin domain							36.0	37.0	37.0					19																	17132940		1956	4145	6101	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17132940G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.285C>T	19.37:g.17132940G>A							p.V95V	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			2	317	-			48					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.285C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	9.536	1.112160	0.20795	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.06	1.89	0.25635	.	.	.	.	.	T	0.51873	0.1700	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46442	-0.9191	4	.	.	.	.	4.989	0.14205	0.4719:0.0:0.5281:0.0	.	.	.	.	L	106	.	.	S	-	2	0	CPAMD8	16993940	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.749000	0.38319	1.267000	0.44247	0.591000	0.81541	TCA		0.602	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2		NM_015692		11	8	0	0	0	0.010729	0	11	8		
CRLF1	9244	broad.mit.edu	37	19	18705189	18705189	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:18705189C>G	ENST00000392386.3	-	7	1273	c.1080G>C	c.(1078-1080)tcG>tcC	p.S360S	CRLF1_ENST00000594325.1_5'UTR	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	360					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCACCGGCCCCGAGCTCGGCT	0.741																																						uc010ebt.1		NaN																	0				central_nervous_system(1)	1						c.(1078-1080)TCG>TCC		cytokine receptor-like factor 1 precursor							14.0	14.0	14.0					19																	18705189		2198	4294	6492	SO:0001819	synonymous_variant	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18705189C>G	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.1080G>C	19.37:g.18705189C>G							p.S360S	NM_004750	NP_004741	O75462	CRLF1_HUMAN			7	1274	-			360					Q9UHH5	Silent	SNP	ENST00000392386.3	37	c.1080G>C	CCDS32962.1																																																																																				0.741	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1				4	7	0	0	0	0.014758	0	4	7		
ZNF792	126375	broad.mit.edu	37	19	35450251	35450251	+	Missense_Mutation	SNP	C	C	T	rs575570822		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:35450251C>T	ENST00000404801.1	-	4	894	c.508G>A	c.(508-510)Gag>Aag	p.E170K	ZNF792_ENST00000605484.1_Missense_Mutation_p.E103K	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCACTGAACTCAGAGCCTTTC	0.502																																					GBM(1;7 183 21053 22581 22847)	uc002nxh.1		NaN																	0					0						c.(508-510)GAG>AAG		zinc finger protein 792							241.0	236.0	238.0					19																	35450251		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35450251C>T	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.508G>A	19.37:g.35450251C>T	ENSP00000385099:p.Glu170Lys						p.E170K	NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	895	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		170					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.508G>A	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	c	4.792	0.147173	0.09134	.	.	ENSG00000180884	ENST00000404801	T	0.26957	1.7	3.16	-6.32	0.01995	.	.	.	.	.	T	0.11580	0.0282	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23404	-1.0189	9	0.24483	T	0.36	.	3.3897	0.07285	0.2392:0.4901:0.1206:0.1501	.	170	Q3KQV3	ZN792_HUMAN	K	170	ENSP00000385099:E170K	ENSP00000385099:E170K	E	-	1	0	ZNF792	40142091	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-0.731000	0.04909	-2.211000	0.00737	0.467000	0.42956	GAG		0.502	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1		NM_175872		132	188	0	0	0	0.01441	0	132	188		
DMKN	93099	broad.mit.edu	37	19	35993780	35993780	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:35993780G>A	ENST00000339686.3	-	10	1319	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V	DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000414866.2_Silent_p.V94V|DMKN_ENST00000492341.2_Silent_p.V28V|DMKN_ENST00000436012.1_Silent_p.V77V|DMKN_ENST00000602781.1_Silent_p.V94V|DMKN_ENST00000443640.1_Silent_p.V144V|DMKN_ENST00000419602.1_Silent_p.V370V|DMKN_ENST00000429837.1_Silent_p.V340V|DMKN_ENST00000467637.1_Silent_p.V106V|DMKN_ENST00000402589.2_Silent_p.V94V|DMKN_ENST00000480502.1_Intron|DMKN_ENST00000408915.2_5'Flank|DMKN_ENST00000472252.2_Silent_p.V28V	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	381						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGGGGGCGGGACCTGGTTCT	0.607																																						uc002nzm.3		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1141-1143)GTC>GTT		dermokine isoform 2 precursor							31.0	35.0	34.0					19																	35993780		2203	4300	6503	SO:0001819	synonymous_variant	93099					extracellular region		g.chr19:35993780G>A	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1143C>T	19.37:g.35993780G>A						DMKN_uc002nzi.3_5'Flank|DMKN_uc002nzj.2_Silent_p.V55V|DMKN_uc002nzk.3_Silent_p.V28V|DMKN_uc002nzl.3_Silent_p.V94V|DMKN_uc002nzo.3_Silent_p.V370V|DMKN_uc002nzn.3_Silent_p.V340V|DMKN_uc002nzw.2_Silent_p.V37V|DMKN_uc002nzr.2_Silent_p.V37V|DMKN_uc002nzp.2_Silent_p.V75V|DMKN_uc002nzq.2_Silent_p.V57V|DMKN_uc002nzt.2_Silent_p.V28V|DMKN_uc002nzs.2_Silent_p.V28V|DMKN_uc002nzu.2_Silent_p.V28V|DMKN_uc002nzv.2_Silent_p.V28V|DMKN_uc010xsv.1_Silent_p.V28V|DMKN_uc010xsw.1_Silent_p.V77V	p.V381V	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		10	1326	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		381					A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Silent	SNP	ENST00000339686.3	37	c.1143C>T	CCDS12463.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.848|4.848	0.157712|0.157712	0.09236|0.09236	.|.	.|.	ENSG00000161249|ENSG00000161249	ENST00000434389|ENST00000443857	.|.	.|.	.|.	5.85|5.85	4.79|4.79	0.61399|0.61399	.|.	.|.	.|.	.|.	.|.	T|T	0.64305|0.64305	0.2586|0.2586	.|.	.|.	.|.	0.40238|0.40238	D|D	0.977924|0.977924	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.64364|0.64364	-0.6425|-0.6425	4|4	.|.	.|.	.|.	-2.2369|-2.2369	12.7548|12.7548	0.57328|0.57328	0.0:0.1648:0.8352:0.0|0.0:0.1648:0.8352:0.0	.|.	.|.	.|.	.|.	S|F	92|85	.|.	.|.	P|S	-|-	1|2	0|0	DMKN|DMKN	40685620|40685620	0.303000|0.303000	0.24463|0.24463	0.129000|0.129000	0.21949|0.21949	0.033000|0.033000	0.12548|0.12548	1.458000|1.458000	0.35223|0.35223	1.426000|1.426000	0.47256|0.47256	0.491000|0.491000	0.48974|0.48974	CCC|TCC		0.607	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2		NM_033317		16	37	0	0	0	0.006122	0	16	37		
SHKBP1	92799	broad.mit.edu	37	19	41086561	41086561	+	Splice_Site	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:41086561A>G	ENST00000291842.5	+	8	701	c.652A>G	c.(652-654)Agg>Ggg	p.R218G	SHKBP1_ENST00000600733.1_Splice_Site_p.R218G	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	218					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTCTGCTACAGGTGCTTGGG	0.582																																						uc002oob.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(652-654)AGG>GGG		SH3KBP1 binding protein 1							127.0	125.0	126.0					19																	41086561		2203	4300	6503	SO:0001630	splice_region_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41086561A>G	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.653+1A>G	19.37:g.41086561A>G						SHKBP1_uc002ooc.2_Missense_Mutation_p.R218G|SHKBP1_uc002ood.2_Missense_Mutation_p.R218G|SHKBP1_uc010xvl.1_Missense_Mutation_p.R141G|SHKBP1_uc002ooe.2_Missense_Mutation_p.R55G|SHKBP1_uc002oof.2_Missense_Mutation_p.R55G|SHKBP1_uc010xvm.1_Missense_Mutation_p.R55G|SHKBP1_uc010xvn.1_Missense_Mutation_p.R96G	p.R218G	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		8	701	+			218					Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.652A>G	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574953	0.86542	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.55413	0.52	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.992;0.992;0.989;0.989;0.999;0.999;0.981	D;D;D;D;D;D;D	0.78314	0.951;0.936;0.985;0.985;0.976;0.991;0.966	T	0.76798	-0.2826	10	0.87932	D	0	-16.2431	14.2925	0.66289	1.0:0.0:0.0:0.0	.	96;55;141;55;218;218;218	B4DLI0;B4DUW2;B4DUV2;B3KVX8;Q8TBC3-2;B2R6W9;Q8TBC3	.;.;.;.;.;.;SHKB1_HUMAN	G	218;55	ENSP00000291842:R218G	ENSP00000291842:R218G	R	+	1	2	SHKBP1	45778401	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	8.421000	0.90259	2.022000	0.59522	0.374000	0.22700	AGG		0.582	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2		NM_138392	Missense_Mutation	30	62	0	0	0	0.007291	0	30	62		
CYP2A7	1549	broad.mit.edu	37	19	41383229	41383229	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:41383229A>G	ENST00000301146.4	-	7	1568	c.1027T>C	c.(1027-1029)Ttt>Ctt	p.F343L	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.F292L	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	343						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGGTCCTCAAACTTGGGCTGC	0.542																																						uc002opm.2		NaN																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(1027-1029)TTT>CTT		cytochrome P450, family 2, subfamily A,							105.0	87.0	93.0					19																	41383229		2203	4298	6501	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41383229A>G	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1027T>C	19.37:g.41383229A>G	ENSP00000301146:p.Phe343Leu					CYP2A7_uc002opo.2_Missense_Mutation_p.F343L|CYP2A7_uc002opn.2_Missense_Mutation_p.F292L	p.F343L	NM_000764	NP_000755	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	1569	-			343					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.1027T>C	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	A	2.213	-0.380175	0.05000	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.66995	-0.24;-0.24	2.18	2.18	0.27775	.	0.339932	0.29198	U	0.012841	T	0.46014	0.1371	N	0.04260	-0.245	0.09310	N	1	B;B;B	0.30709	0.065;0.1;0.291	B;B;B	0.42771	0.112;0.06;0.397	T	0.38714	-0.9648	10	0.29301	T	0.29	.	5.4717	0.16674	0.751:0.0:0.0:0.249	.	343;292;343	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	L	343;292	ENSP00000301146:F343L;ENSP00000291764:F292L	ENSP00000291764:F292L	F	-	1	0	CYP2A7	46075069	0.000000	0.05858	0.562000	0.28370	0.540000	0.34992	-0.054000	0.11826	1.001000	0.39076	0.155000	0.16302	TTT		0.542	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2		NM_030589		51	65	0	0	0	0.01441	0	51	65		
MEGF8	1954	broad.mit.edu	37	19	42856512	42856512	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:42856512G>A	ENST00000251268.6	+	19	3254	c.3254G>A	c.(3253-3255)tGc>tAc	p.C1085Y	MEGF8_ENST00000334370.4_Missense_Mutation_p.C1018Y	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1085	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGGCCCGGTGCCACCCGCGG	0.701																																						uc002otl.3		NaN																	0				ovary(1)	1						c.(3052-3054)TGC>TAC		multiple EGF-like-domains 8							12.0	12.0	12.0					19																	42856512		2198	4289	6487	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42856512G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.3254G>A	19.37:g.42856512G>A	ENSP00000251268:p.Cys1085Tyr					MEGF8_uc002otm.3_Missense_Mutation_p.C626Y	p.C1018Y	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			18	3688	+		Prostate(69;0.00682)	1085			Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.3053G>A		.	.	.	.	.	.	.	.	.	.	G	25.6	4.657391	0.88154	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	D;D	0.94828	-3.53;-3.53	5.42	5.42	0.78866	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98422	0.9475	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.99709	1.1006	10	0.87932	D	0	-18.2224	16.7363	0.85448	0.0:0.0:1.0:0.0	.	1085;1018	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	Y	1018;1085	ENSP00000334219:C1018Y;ENSP00000251268:C1085Y	ENSP00000251268:C1085Y	C	+	2	0	MEGF8	47548352	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.081000	0.76844	2.534000	0.85438	0.655000	0.94253	TGC		0.701	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		NM_001410		8	6	0	0	0	0.00308	0	8	6		
ZNF222	7673	broad.mit.edu	37	19	44536804	44536804	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:44536804C>T	ENST00000187879.8	+	4	1139	c.977C>T	c.(976-978)tCa>tTa	p.S326L	ZNF222_ENST00000391960.3_Missense_Mutation_p.S366L|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	326					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(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AAATGGTCCTCATATCTTTTG	0.413																																						uc002oyc.2		NaN																	0				ovary(3)	3						c.(976-978)TCA>TTA		zinc finger protein 222 isoform 2							109.0	108.0	108.0					19																	44536804		2203	4300	6503	SO:0001583	missense	7673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44536804C>T	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.977C>T	19.37:g.44536804C>T	ENSP00000187879:p.Ser326Leu					ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.S366L|ZNF222_uc002oyd.2_Missense_Mutation_p.S272L	p.S326L	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN			4	1160	+		Prostate(69;0.0435)	326			C2H2-type 7.		G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	c.977C>T	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366800	0.61513	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.36520	1.25;1.25	2.79	1.72	0.24424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57359	0.2048	M	0.79011	2.435	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.971	T	0.42982	-0.9419	9	0.72032	D	0.01	.	9.0534	0.36389	0.0:0.8797:0.0:0.1203	.	366;326	G5E9B9;Q9UK12	.;ZN222_HUMAN	L	366;326;272	ENSP00000375822:S366L;ENSP00000187879:S326L	ENSP00000187879:S326L	S	+	2	0	ZNF222	49228644	0.000000	0.05858	0.002000	0.10522	0.790000	0.44656	-0.384000	0.07389	0.471000	0.27319	0.205000	0.17691	TCA		0.413	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2				70	117	0	0	0	0.01441	0	70	117		
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:45867687T>C	ENST00000391945.4	-	8	790	c.713A>G	c.(712-714)aAc>aGc	p.N238S	ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S|ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	238	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.N238S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|pancreas(1)	3						c.(712-714)AAC>AGC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							36.0	32.0	34.0					19																	45867687		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45867687T>C		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.713A>G	19.37:g.45867687T>C	ENSP00000375809:p.Asn238Ser					ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.N160S|ERCC2_uc002pbk.2_Missense_Mutation_p.N214S|ERCC2_uc002pbl.3_Missense_Mutation_p.N214S|ERCC2_uc010xxj.1_Intron	p.N238S	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	8	760	-		Ovarian(192;0.0728)|all_neural(266;0.112)	238			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.713A>G	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.668897	0.88348	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.80480	-1.38;-1.38;-1.38	4.72	4.72	0.59763	DEAD2 (1);Helicase-like, DEXD box c2 type (1);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	H	0.98199	4.17	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.994	D;D;D	0.91635	0.999;0.979;0.994	D	0.94883	0.8041	10	0.87932	D	0	-50.8517	12.4641	0.55749	0.0:0.0:0.0:1.0	.	160;214;238	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	S	188;214;238;160;214	ENSP00000375809:N238S;ENSP00000375808:N160S;ENSP00000375804:N214S	ENSP00000375804:N214S	N	-	2	0	ERCC2	50559527	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.538000	0.67193	2.102000	0.63906	0.459000	0.35465	AAC		0.637	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		7	24	0	0	0	0.001984	0	7	24		
C5AR2	27202	broad.mit.edu	37	19	47844630	47844630	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:47844630G>A	ENST00000595464.1	+	2	792	c.574G>A	c.(574-576)Ggc>Agc	p.G192S	C5AR2_ENST00000600626.1_Missense_Mutation_p.G192S|C5AR2_ENST00000257267.2_Missense_Mutation_p.G192S	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	192					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										GGACTACGGCGGCTCCTCCAG	0.667																																						uc010ela.1		NaN																	0				ovary(1)	1						c.(574-576)GGC>AGC		G protein-coupled receptor 77							54.0	62.0	59.0					19																	47844630		2203	4299	6502	SO:0001583	missense	27202				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47844630G>A	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.574G>A	19.37:g.47844630G>A	ENSP00000472620:p.Gly192Ser					GPR77_uc002pgk.1_Missense_Mutation_p.G192S	p.G192S	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)	2	792	+		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)	192			Extracellular (Potential).		B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	c.574G>A	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311262	0.40895	.	.	ENSG00000134830	ENST00000257267	T	0.31247	1.5	4.41	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.670368	0.14069	N	0.343536	T	0.22322	0.0538	N	0.25789	0.76	0.33923	D	0.64106	D	0.58970	0.984	P	0.44561	0.453	T	0.17592	-1.0364	10	0.20519	T	0.43	.	10.203	0.43097	0.0981:0.0:0.9019:0.0	.	192	Q9P296	C5ARL_HUMAN	S	192	ENSP00000257267:G192S	ENSP00000257267:G192S	G	+	1	0	GPR77	52536470	0.000000	0.05858	0.223000	0.23860	0.044000	0.14063	0.005000	0.13129	1.072000	0.40860	0.313000	0.20887	GGC		0.667	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1		NM_018485		33	45	0	0	0	0.012213	0	33	45		
GYS1	2997	broad.mit.edu	37	19	49496351	49496351	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:49496351A>C	ENST00000323798.3	-	1	215	c.19T>G	c.(19-21)Ttg>Gtg	p.L7V	RUVBL2_ENST00000595090.1_5'Flank|RUVBL2_ENST00000413176.2_5'Flank|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_5'UTR|RUVBL2_ENST00000601968.1_5'Flank|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.L7V|GYS1_ENST00000541188.1_5'UTR	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	7					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GACATGGACAAAGTGCGGTTT	0.612											OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002plp.2		NaN																	0				ovary(2)	2						c.(19-21)TTG>GTG		glycogen synthase 1 (muscle) isoform 1							117.0	110.0	112.0					19																	49496351		2203	4300	6503	SO:0001583	missense	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49496351A>C		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.19T>G	19.37:g.49496351A>C	ENSP00000317904:p.Leu7Val		OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962	GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Missense_Mutation_p.L7V|GYS1_uc010xzz.1_5'UTR|GYS1_uc010yaa.1_RNA|RUVBL2_uc002plq.1_5'Flank|RUVBL2_uc010yab.1_5'Flank|RUVBL2_uc002plr.1_5'Flank|RUVBL2_uc002pls.1_5'Flank|RUVBL2_uc010emn.1_5'Flank|RUVBL2_uc010yac.1_5'Flank	p.L7V	NM_002103	NP_002094	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	1	260	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	7					Q9BTT9	Missense_Mutation	SNP	ENST00000323798.3	37	c.19T>G	CCDS12747.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.969311	0.74246	.	.	ENSG00000104812	ENST00000323798;ENST00000263276	T;T	0.72394	-0.26;-0.65	5.07	0.625	0.17665	.	0.000000	0.64402	D	0.000001	T	0.46249	0.1383	N	0.19112	0.55	0.80722	D	1	P;P	0.41978	0.767;0.541	B;B	0.33254	0.112;0.16	T	0.32824	-0.9892	10	0.46703	T	0.11	-18.8397	7.7185	0.28719	0.4307:0.0:0.5693:0.0	.	7;7	Q9BTT9;P13807	.;GYS1_HUMAN	V	7	ENSP00000317904:L7V;ENSP00000263276:L7V	ENSP00000263276:L7V	L	-	1	2	GYS1	54188163	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	1.515000	0.35845	0.215000	0.20761	0.459000	0.35465	TTG		0.612	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1		NM_002103		58	104	0	0	0	0.01441	0	58	104		
HRC	3270	broad.mit.edu	37	19	49658510	49658510	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:49658510G>T	ENST00000252825.4	-	0	171				HRC_ENST00000595625.1_5'Flank|TRPM4_ENST00000252826.5_5'Flank|TRPM4_ENST00000355712.5_5'Flank|TRPM4_ENST00000427978.2_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein						cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CGGACAGGCAGCACTGGCTCC	0.612																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NaN																	0				ovary(1)	1						c.(-17--13)TGCTG>TGATG		histidine rich calcium binding protein							12.0	13.0	13.0					19																	49658510		2199	4288	6487			3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49658510G>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.-16C>A	19.37:g.49658510G>T						TRPM4_uc002pmw.2_5'Flank|TRPM4_uc010emu.2_5'Flank|TRPM4_uc010yak.1_5'Flank|TRPM4_uc002pmx.2_5'Flank|TRPM4_uc010emv.2_5'Flank|TRPM4_uc010yal.1_5'Flank		NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	172	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)						Q504Y6	Translation_Start_Site	SNP	ENST00000252825.4	37	c.-15C>A	CCDS12759.1																																																																																				0.612	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1		NM_002152		14	13	1	0	9.31168e-06	0.016723	9.6132e-06	14	13		
TEAD2	8463	broad.mit.edu	37	19	49852004	49852004	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:49852004C>T	ENST00000311227.2	-	8	781	c.691G>A	c.(691-693)Gta>Ata	p.V231I	TEAD2_ENST00000593945.1_Missense_Mutation_p.V235I|TEAD2_ENST00000598810.1_Missense_Mutation_p.V235I|TEAD2_ENST00000377214.4_Missense_Mutation_p.V234I|TEAD2_ENST00000601519.1_Missense_Mutation_p.V234I|TEAD2_ENST00000539846.1_Missense_Mutation_p.V103I|TEAD2_ENST00000598397.1_5'UTR	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	231	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAGAACTCTACCAGCTGCAAC	0.607																																						uc002pnj.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(691-693)GTA>ATA		TEA domain family member 2							46.0	52.0	50.0					19																	49852004		2203	4300	6503	SO:0001583	missense	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49852004C>T	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.691G>A	19.37:g.49852004C>T	ENSP00000310701:p.Val231Ile					TEAD2_uc002png.2_Missense_Mutation_p.V234I|TEAD2_uc002pnh.2_Missense_Mutation_p.V235I|TEAD2_uc002pni.2_Missense_Mutation_p.V234I|TEAD2_uc010yao.1_Missense_Mutation_p.V103I|TEAD2_uc010emw.2_Missense_Mutation_p.V234I	p.V231I	NM_003598	NP_003589	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	8	782	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	231			Transcriptional activation (Potential).		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	c.691G>A	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	C	9.352	1.065758	0.20067	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.32753	1.44;1.44;1.44	5.6	2.01	0.26516	.	0.096968	0.42548	N	0.000695	T	0.25754	0.0627	L	0.58510	1.815	0.37311	D	0.909121	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.12967	-1.0527	10	0.22706	T	0.39	-13.4867	8.9737	0.35921	0.2586:0.6666:0.0:0.0748	.	103;231;234	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	I	231;234;103	ENSP00000310701:V231I;ENSP00000366419:V234I;ENSP00000437928:V103I	ENSP00000310701:V231I	V	-	1	0	TEAD2	54543816	0.994000	0.37717	1.000000	0.80357	0.322000	0.28314	0.458000	0.21892	0.817000	0.34445	-0.310000	0.09108	GTA		0.607	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1		NM_003598		53	56	0	0	0	0.01441	0	53	56		
LIM2	3982	broad.mit.edu	37	19	51883515	51883515	+	Splice_Site	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:51883515C>G	ENST00000596399.1	-	5	509	c.462G>C	c.(460-462)ggG>ggC	p.G154G	LIM2_ENST00000221973.3_Splice_Site_p.G196G	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	154					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		TGTAGAAAATCCCTGCATGAG	0.537																																						uc002pwm.2		NaN																	0					0						c.(460-462)GGG>GGC		lens intrinsic membrane protein 2, 19kDa isoform							60.0	61.0	60.0					19																	51883515		2203	4300	6503	SO:0001630	splice_region_variant	3982				cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	g.chr19:51883515C>G		CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"""lens intrinsic membrane protein 2 (19kD)"""			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.461-1G>C	19.37:g.51883515C>G						LIM2_uc002pwl.2_Silent_p.G196G	p.G154G	NM_001161748	NP_001155220	P55344	LMIP_HUMAN		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)	5	506	-		all_neural(266;0.0529)	154			Helical; (Potential).		Q6B083|Q9BXD0|Q9HAR5	Silent	SNP	ENST00000596399.1	37	c.462G>C	CCDS59415.1																																																																																				0.537	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464247.1		NM_030657	Silent	3	22	0	0	0	0.004672	0	3	22		
ZNF615	284370	broad.mit.edu	37	19	52497266	52497266	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:52497266C>T	ENST00000602063.1	-	6	1412	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	ZNF615_ENST00000376716.5_Missense_Mutation_p.E355K|ZNF615_ENST00000391795.3_Missense_Mutation_p.E360K|ZNF615_ENST00000594083.1_Missense_Mutation_p.E366K|ZNF615_ENST00000598071.1_Missense_Mutation_p.E366K			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	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)			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)		CGCCTCTTCTCAATGAAGCCT	0.398																																						uc002pye.1		NaN																	0				ovary(4)|skin(1)	5						c.(1063-1065)GAG>AAG		zinc finger protein 615							94.0	98.0	97.0					19																	52497266		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497266C>T	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		ENST00000602063.1:c.1063G>A	19.37:g.52497266C>T	ENSP00000473089:p.Glu355Lys					ZNF615_uc002pyf.1_Missense_Mutation_p.E366K|ZNF615_uc002pyg.1_Missense_Mutation_p.E247K|ZNF615_uc002pyh.1_Missense_Mutation_p.E366K|ZNF615_uc010epi.1_Missense_Mutation_p.E362K|ZNF615_uc010ydg.1_Missense_Mutation_p.E360K	p.E355K	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	1355	-		all_neural(266;0.117)	355			C2H2-type 6.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.1063G>A	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	8.786	0.929353	0.18131	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07327	3.2;3.2	3.08	-0.903	0.10534	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02688	0.0081	N	0.03253	-0.375	0.09310	N	1	B;B;B;B	0.21606	0.035;0.058;0.058;0.035	B;B;B;B	0.14023	0.004;0.01;0.01;0.004	T	0.44019	-0.9355	9	0.30078	T	0.28	.	0.9232	0.01319	0.1712:0.2543:0.3366:0.2379	.	360;362;366;355	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	K	355;365;360;365	ENSP00000365906:E355K;ENSP00000375672:E360K	ENSP00000347019:E365K	E	-	1	0	ZNF615	57189078	0.000000	0.05858	0.034000	0.17996	0.961000	0.63080	-7.739000	0.00030	0.116000	0.18110	0.650000	0.86243	GAG		0.398	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1		NM_198480		49	101	0	0	0	0.01441	0	49	101		
MYADM	91663	broad.mit.edu	37	19	54377621	54377621	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:54377621A>C	ENST00000391769.2	+	3	1118	c.838A>C	c.(838-840)Agc>Cgc	p.S280R	MYADM_ENST00000336967.3_Missense_Mutation_p.S280R|MYADM_ENST00000391770.4_Missense_Mutation_p.S280R|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391771.1_Missense_Mutation_p.S280R|MYADM_ENST00000391768.2_Missense_Mutation_p.S280R	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	280	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TGTAAGCTGCAGCCGCAGCCA	0.617																																						uc002qcl.2		NaN																	0				ovary(1)	1						c.(838-840)AGC>CGC		myeloid-associated differentiation marker							52.0	46.0	48.0					19																	54377621		2203	4300	6503	SO:0001583	missense	91663					integral to membrane		g.chr19:54377621A>C	AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.838A>C	19.37:g.54377621A>C	ENSP00000375649:p.Ser280Arg					MYADM_uc002qcm.2_Missense_Mutation_p.S280R|MYADM_uc002qcn.2_Missense_Mutation_p.S280R|MYADM_uc002qco.2_Missense_Mutation_p.S280R|MYADM_uc002qcp.2_Missense_Mutation_p.S280R	p.S280R	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN		GBM - Glioblastoma multiforme(134;0.0488)	3	986	+	Ovarian(34;0.19)		280			MARVEL 2.		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	ENST00000391769.2	37	c.838A>C	CCDS12866.1	.	.	.	.	.	.	.	.	.	.	A	5.051	0.195152	0.09599	.	.	ENSG00000179820	ENST00000336967;ENST00000391770;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	4.3	-8.6	0.00889	Marvel (1);MARVEL-like domain (1);	0.859309	0.09772	N	0.757867	T	0.08891	0.0220	N	0.17723	0.515	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31052	-0.9957	10	0.13108	T	0.6	-16.404	1.205	0.01893	0.3064:0.1773:0.339:0.1774	.	280	Q96S97	MYADM_HUMAN	R	280;280;280;243;280;280	ENSP00000337222:S280R;ENSP00000375650:S280R;ENSP00000375651:S280R;ENSP00000375649:S280R;ENSP00000375648:S280R	ENSP00000337222:S280R	S	+	1	0	MYADM	59069433	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.628000	0.02031	-1.820000	0.01215	-0.756000	0.03474	AGC		0.617	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134337.1		NM_138373		15	52	0	0	0	0.004007	0	15	52		
CNOT3	4849	broad.mit.edu	37	19	54647749	54647749	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:54647749A>G	ENST00000406403.1	+	5	1869	c.266A>G	c.(265-267)gAa>gGa	p.E89G	CNOT3_ENST00000221232.5_Missense_Mutation_p.E89G|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	89					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGCAAATGGAACGGTTCAAA	0.557																																						uc002qdj.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(265-267)GAA>GGA		CCR4-NOT transcription complex, subunit 3							82.0	83.0	83.0					19																	54647749		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54647749A>G	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.266A>G	19.37:g.54647749A>G	ENSP00000383954:p.Glu89Gly					CNOT3_uc010yel.1_Missense_Mutation_p.E89G|CNOT3_uc002qdi.2_Missense_Mutation_p.E2G|CNOT3_uc002qdk.1_Missense_Mutation_p.E89G|CNOT3_uc010ere.1_RNA	p.E89G	NM_014516	NP_055331	O75175	CNOT3_HUMAN			6	577	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		89					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.266A>G	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.0|25.0	4.588997|4.588997	0.86851|0.86851	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000406403|ENST00000440571	T;T|.	0.65364|.	-0.15;-0.15|.	5.28|5.28	5.28|5.28	0.74379|0.74379	Not CCR4-Not complex component, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81004|0.81004	0.4733|0.4733	M|M	0.90425|0.90425	3.115|3.115	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.87578|.	0.998;0.995;0.998|.	D|D	0.84977|0.84977	0.0886|0.0886	10|5	0.87932|.	D|.	0|.	-20.7075|-20.7075	14.5063|14.5063	0.67755|0.67755	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	89;89;13|.	B7Z6J7;O75175;Q6ZMJ6|.	.;CNOT3_HUMAN;.|.	G|D	89|10	ENSP00000221232:E89G;ENSP00000383954:E89G|.	ENSP00000221232:E89G|.	E|N	+|+	2|1	0|0	CNOT3|CNOT3	59339561|59339561	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.639000|8.639000	0.91023|0.91023	2.133000|2.133000	0.65898|0.65898	0.533000|0.533000	0.62120|0.62120	GAA|AAC		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3		NM_014516		33	56	0	0	0	0.012213	0	33	56		
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2		NaN																	10	Substitution - Missense(10)		urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)		0						c.(1210-1212)GAC>GAA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1		XM_001725708		5	24	1	0	0.000602214	0.014758	0.000611236	5	24		
YWHAQ	10971	broad.mit.edu	37	2	9728302	9728302	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:9728302C>T	ENST00000381844.4	-	3	737	c.574G>A	c.(574-576)Gct>Act	p.A192T	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.A192T			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	192					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		ACCGTTTTAGCCAGCGTGCAG	0.413																																						uc002qzw.2		NaN																	0				breast(1)	1						c.(574-576)GCT>ACT		tyrosine 3/tryptophan 5 -monooxygenase							82.0	81.0	82.0					2																	9728302		2203	4300	6503	SO:0001583	missense	10971				negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding	g.chr2:9728302C>T	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.574G>A	2.37:g.9728302C>T	ENSP00000371267:p.Ala192Thr					YWHAQ_uc002qzx.2_Missense_Mutation_p.A192T	p.A192T	NM_006826	NP_006817	P27348	1433T_HUMAN		Epithelial(75;0.241)	3	738	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		192					D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP	ENST00000381844.4	37	c.574G>A	CCDS1666.1	.	.	.	.	.	.	.	.	.	.	C	35	5.419366	0.96092	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979	T;T	0.53640	0.61;0.61	5.56	5.56	0.83823	14-3-3 domain (4);	0.071849	0.53938	N	0.000049	T	0.75968	0.3922	M	0.92169	3.28	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.81623	-0.0849	10	0.87932	D	0	.	19.9559	0.97218	0.0:1.0:0.0:0.0	.	192	P27348	1433T_HUMAN	T	192;192;157	ENSP00000238081:A192T;ENSP00000371267:A192T	ENSP00000238081:A192T	A	-	1	0	YWHAQ	9645753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.777000	0.85628	2.789000	0.95967	0.558000	0.71614	GCT		0.413	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4		NM_006826		30	19	0	0	0	0.008361	0	30	19		
GREB1	9687	broad.mit.edu	37	2	11772057	11772057	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:11772057C>T	ENST00000381486.2	+	27	4934	c.4634C>T	c.(4633-4635)cCg>cTg	p.P1545L	GREB1_ENST00000396123.1_Missense_Mutation_p.P543L|GREB1_ENST00000234142.5_Missense_Mutation_p.P1545L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1545						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATAAAAAGTCCGACATTCACT	0.463																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NaN																	0				ovary(1)	1						c.(4633-4635)CCG>CTG		growth regulation by estrogen in breast cancer 1							91.0	86.0	88.0					2																	11772057		1891	4112	6003	SO:0001583	missense	9687					integral to membrane		g.chr2:11772057C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4634C>T	2.37:g.11772057C>T	ENSP00000370896:p.Pro1545Leu					GREB1_uc002rbp.1_Missense_Mutation_p.P543L	p.P1545L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	27	4934	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1545					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.4634C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586422	0.66105	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.53423	0.62;0.62;0.62	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73610	-0.3928	10	0.87932	D	0	-29.1814	19.3358	0.94319	0.0:1.0:0.0:0.0	.	1545	Q4ZG55	GREB1_HUMAN	L	1545;1545;543	ENSP00000370896:P1545L;ENSP00000234142:P1545L;ENSP00000379429:P543L	ENSP00000234142:P1545L	P	+	2	0	GREB1	11689508	1.000000	0.71417	0.862000	0.33874	0.071000	0.16799	7.385000	0.79763	2.573000	0.86826	0.557000	0.71058	CCG		0.463	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668		12	23	0	0	0	0.016723	0	12	23		
RAD51AP2	729475	broad.mit.edu	37	2	17697446	17697446	+	Missense_Mutation	SNP	C	C	T	rs200773447	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:17697446C>T	ENST00000399080.2	-	1	2260	c.2237G>A	c.(2236-2238)cGa>cAa	p.R746Q		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	746										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATGTATCCTCGGTTGTTCTG	0.323													T|||	4	0.000798722	0.0	0.0	5008	,	,		17877	0.0		0.0	False		,,,				2504	0.0041					uc002rcl.1		NaN																	0				ovary(1)	1						c.(2236-2238)CGA>CAA		RAD51 associated protein 2		T	GLN/ARG	1,3637		0,1,1818	102.0	95.0	97.0		2237	1.8	0.0	2		97	1,8145		0,1,4072	yes	missense	RAD51AP2	NM_001099218.2	43	0,2,5890	TT,TC,CC		0.0123,0.0275,0.017	benign	746/1160	17697446	2,11782	1819	4073	5892	SO:0001583	missense	729475							g.chr2:17697446C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2237G>A	2.37:g.17697446C>T	ENSP00000382030:p.Arg746Gln					RAD51AP2_uc010exn.1_Missense_Mutation_p.R737Q	p.R746Q	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN			1	2261	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		746						Missense_Mutation	SNP	ENST00000399080.2	37	c.2237G>A	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	T	5.436	0.265654	0.10294	2.75E-4	1.23E-4	ENSG00000214842	ENST00000399080	T	0.21932	1.98	4.25	1.84	0.25277	.	.	.	.	.	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41770	-0.9490	9	0.12103	T	0.63	10.3694	7.7587	0.28940	0.0:0.3654:0.0:0.6346	.	746	Q09MP3	R51A2_HUMAN	Q	746	ENSP00000382030:R746Q	ENSP00000382030:R746Q	R	-	2	0	RAD51AP2	17560927	0.000000	0.05858	0.003000	0.11579	0.191000	0.23601	-0.444000	0.06854	-0.011000	0.14247	-0.254000	0.11334	CGA		0.323	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3		NM_001099218		40	15	0	0	0	0.00623	0	40	15		
SDC1	6382	broad.mit.edu	37	2	20405117	20405117	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:20405117G>T	ENST00000254351.4	-	2	379	c.135C>A	c.(133-135)tcC>tcA	p.S45S	SDC1_ENST00000403076.1_Silent_p.S45S|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000381150.1_Silent_p.S45S	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	45					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CACCTGAGCCGGAGAAGTTGT	0.532																																						uc002rdo.1		NaN																	0				ovary(4)|skin(1)	5						c.(133-135)TCC>TCA		syndecan 1 precursor							89.0	91.0	90.0					2																	20405117		2203	4300	6503	SO:0001819	synonymous_variant	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20405117G>T	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.135C>A	2.37:g.20405117G>T						SDC1_uc002rdp.1_Silent_p.S45S|SDC1_uc010exv.2_Silent_p.S45S|SDC1_uc010exw.1_RNA	p.S45S	NM_002997	NP_002988	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	2	434	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		45			Extracellular (Potential).		D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	ENST00000254351.4	37	c.135C>A	CCDS1697.1																																																																																				0.532	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1		NM_001006946		62	30	1	0	5.08636e-23	0.01441	5.5469e-23	62	30		
REL	5966	broad.mit.edu	37	2	61149024	61149024	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:61149024C>T	ENST00000295025.8	+	11	1534	c.1214C>T	c.(1213-1215)gCa>gTa	p.A405V	REL_ENST00000394479.3_Missense_Mutation_p.A373V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	405					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GCCTCAATGGCACCTCTGCCT	0.507			A		Hodgkin Lymphoma																																	uc002sam.1		NaN		Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				ovary(2)|breast(1)	3						c.(1213-1215)GCA>GTA		v-rel reticuloendotheliosis viral oncogene							110.0	104.0	106.0					2																	61149024		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61149024C>T	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1214C>T	2.37:g.61149024C>T	ENSP00000295025:p.Ala405Val					REL_uc002san.1_Missense_Mutation_p.A373V	p.A405V	NM_002908	NP_002899	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		11	1438	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	405					Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.1214C>T	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	C	1.255	-0.617418	0.03663	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.43294	0.99;0.95	5.31	-0.15	0.13416	.	1.945620	0.02557	N	0.096301	T	0.20170	0.0485	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11131	-1.0600	10	0.25751	T	0.34	-48.6198	4.6582	0.12628	0.0:0.1767:0.3102:0.5131	.	373;405	Q17RU2;Q04864	.;REL_HUMAN	V	405;373	ENSP00000295025:A405V;ENSP00000377989:A373V	ENSP00000295025:A405V	A	+	2	0	REL	61002528	0.035000	0.19736	0.000000	0.03702	0.002000	0.02628	0.459000	0.21908	-0.260000	0.09418	-0.482000	0.04802	GCA		0.507	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3		NM_002908		26	67	0	0	0	0.005443	0	26	67		
AFTPH	54812	broad.mit.edu	37	2	64779951	64779951	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:64779951T>C	ENST00000422803.1	+	2	1657	c.1343T>C	c.(1342-1344)tTt>tCt	p.F448S	AFTPH_ENST00000238855.7_Missense_Mutation_p.F448S|AFTPH_ENST00000409933.1_Missense_Mutation_p.F448S|AFTPH_ENST00000238856.4_Missense_Mutation_p.F448S|AFTPH_ENST00000409183.1_Missense_Mutation_p.F79S			Q6ULP2	AFTIN_HUMAN	aftiphilin	448					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ACTCCACCTTTTGTTACTGGT	0.398																																						uc002sdc.2		NaN																	0				ovary(2)	2						c.(1342-1344)TTT>TCT		aftiphilin protein isoform a							179.0	172.0	175.0					2																	64779951		2203	4300	6503	SO:0001583	missense	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779951T>C	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1343T>C	2.37:g.64779951T>C	ENSP00000397726:p.Phe448Ser					AFTPH_uc002scz.2_Missense_Mutation_p.F448S|AFTPH_uc002sda.2_Missense_Mutation_p.F448S|AFTPH_uc002sdb.2_Missense_Mutation_p.F448S	p.F448S	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			1	1375	+			448					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	ENST00000422803.1	37	c.1343T>C		.	.	.	.	.	.	.	.	.	.	T	13.81	2.346926	0.41599	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.47528	1.81;1.82;1.82;1.82;0.84	5.97	3.59	0.41128	.	0.536050	0.21170	N	0.078984	T	0.50086	0.1595	M	0.61703	1.905	0.26038	N	0.981648	P;B;P;P	0.45176	0.852;0.275;0.773;0.773	P;B;B;P	0.47705	0.555;0.136;0.369;0.491	T	0.45498	-0.9257	10	0.66056	D	0.02	0.1098	7.9404	0.29955	0.1353:0.0:0.1421:0.7225	.	448;448;448;448	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	S	448;448;448;448;79	ENSP00000238856:F448S;ENSP00000397726:F448S;ENSP00000238855:F448S;ENSP00000387071:F448S;ENSP00000386913:F79S	ENSP00000238855:F448S	F	+	2	0	AFTPH	64633455	0.210000	0.23517	0.538000	0.28064	0.987000	0.75469	1.895000	0.39778	0.500000	0.27991	0.528000	0.53228	TTT		0.398	AFTPH-202	KNOWN	basic	protein_coding	protein_coding			NM_017657		40	135	0	0	0	0.005524	0	40	135		
ST3GAL5	8869	broad.mit.edu	37	2	86090551	86090551	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:86090551A>G	ENST00000377332.3	-	2	248	c.140T>C	c.(139-141)cTg>cCg	p.L47P	ST3GAL5_ENST00000525834.2_Missense_Mutation_p.L47P|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.L24P|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.L19P|ST3GAL5_ENST00000484728.1_5'UTR	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	47					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GTACCATTGCAGGGAAGGCCT	0.512																																						uc002sqq.1		NaN																	0					0						c.(139-141)CTG>CCG		ST3 beta-galactoside alpha-2,3-sialyltransferase							129.0	117.0	121.0					2																	86090551		2203	4300	6503	SO:0001583	missense	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86090551A>G	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.140T>C	2.37:g.86090551A>G	ENSP00000366549:p.Leu47Pro					ST3GAL5_uc010ysy.1_Missense_Mutation_p.L47P|ST3GAL5_uc010ysz.1_Missense_Mutation_p.L47P|ST3GAL5_uc010fgq.1_5'Flank|ST3GAL5_uc002sqp.1_Missense_Mutation_p.L24P	p.L47P	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN			2	269	-			47			Cytoplasmic (Potential).		B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	ENST00000377332.3	37	c.140T>C	CCDS1986.2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114809	0.77210	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332;ENST00000455892;ENST00000525834	T;T;T;T;T	0.65549	0.83;0.86;0.66;0.29;-0.16	5.53	5.53	0.82687	.	0.184300	0.26609	N	0.023426	T	0.67822	0.2934	L	0.27053	0.805	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.994;0.994	D;D;P;D	0.83275	0.996;0.996;0.879;0.919	T	0.71457	-0.4587	10	0.87932	D	0	-9.2557	12.3493	0.55139	1.0:0.0:0.0:0.0	.	47;47;47;24	G3V199;B7Z9J0;Q9UNP4;Q9UNP4-3	.;.;SIAT9_HUMAN;.	P	24;19;47;19;47	ENSP00000377397:L24P;ENSP00000377394:L19P;ENSP00000366549:L47P;ENSP00000401375:L19P;ENSP00000433607:L47P	ENSP00000306247:L47P	L	-	2	0	ST3GAL5	85944062	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.942000	0.63547	2.224000	0.72417	0.528000	0.53228	CTG		0.512	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1		NM_003896		15	56	0	0	0	0.004007	0	15	56		
VWA3B	200403	broad.mit.edu	37	2	98779342	98779342	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:98779342C>T	ENST00000477737.1	+	8	1221	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	VWA3B_ENST00000435344.1_Silent_p.L339L|VWA3B_ENST00000451075.2_Silent_p.L189L	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	339										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACGTGTTTCTCGTTTGGCAAG	0.637																																						uc002syo.2		NaN																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(1015-1017)CTC>CTT		von Willebrand factor A domain containing 3B							56.0	60.0	59.0					2																	98779342		2114	4243	6357	SO:0001819	synonymous_variant	200403							g.chr2:98779342C>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1017C>T	2.37:g.98779342C>T						VWA3B_uc010yvh.1_Silent_p.L189L|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Silent_p.L339L|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_5'UTR	p.L339L	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			8	1281	+			339					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.1017C>T	CCDS42718.1																																																																																				0.637	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2		NM_144992		26	17	0	0	0	0.004656	0	26	17		
TTL	150465	broad.mit.edu	37	2	113258822	113258822	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:113258822T>C	ENST00000233336.6	+	4	700	c.509T>C	c.(508-510)cTc>cCc	p.L170P		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	170	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCAGAGCTTCTCGATTTCATA	0.458			T	ETV6	ALL																																	uc002thu.2		NaN		Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		0					0						c.(508-510)CTC>CCC		tubulin tyrosine ligase							81.0	77.0	78.0					2																	113258822		2203	4300	6503	SO:0001583	missense	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113258822T>C		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.509T>C	2.37:g.113258822T>C	ENSP00000233336:p.Leu170Pro					TTL_uc010fkm.1_5'Flank	p.L170P	NM_153712	NP_714923	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	4	688	+		Ovarian(717;0.024)	170			TTL.		Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	ENST00000233336.6	37	c.509T>C	CCDS2096.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726314	0.48833	.	.	ENSG00000114999	ENST00000233336	T	0.05580	3.42	5.45	4.29	0.51040	.	0.076396	0.53938	N	0.000044	T	0.13927	0.0337	L	0.41236	1.265	0.80722	D	1	D	0.62365	0.991	D	0.66847	0.947	T	0.03706	-1.1011	10	0.32370	T	0.25	.	10.2916	0.43599	0.0:0.0793:0.0:0.9207	.	170	Q8NG68	TTL_HUMAN	P	170	ENSP00000233336:L170P	ENSP00000233336:L170P	L	+	2	0	TTL	112975293	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.653000	0.83643	0.905000	0.36596	0.374000	0.22700	CTC		0.458	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2		NM_153712		21	55	0	0	0	0.008871	0	21	55		
SCTR	6344	broad.mit.edu	37	2	120221747	120221747	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:120221747G>A	ENST00000019103.5	-	6	855	c.588C>T	c.(586-588)gaC>gaT	p.D196D		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	196					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGAGCACGGCGTCCTTGATGA	0.582																																						uc002tma.2		NaN																	0		p.D196N(1)		ovary(1)|central_nervous_system(1)|skin(1)	3						c.(586-588)GAC>GAT		secretin receptor precursor	Secretin(DB00021)						195.0	162.0	173.0					2																	120221747		2203	4300	6503	SO:0001819	synonymous_variant	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120221747G>A		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.588C>T	2.37:g.120221747G>A						SCTR_uc002tlz.2_Silent_p.D18D	p.D196D	NM_002980	NP_002971	P47872	SCTR_HUMAN			6	814	-			196			Extracellular (Potential).		Q12961|Q13213|Q53T00	Silent	SNP	ENST00000019103.5	37	c.588C>T	CCDS2127.1																																																																																				0.582	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2				18	61	0	0	0	0.00499	0	18	61		
PROC	5624	broad.mit.edu	37	2	128185988	128185988	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128185988G>A	ENST00000234071.3	+	9	939	c.852G>A	c.(850-852)gaG>gaA	p.E284E	PROC_ENST00000453608.2_Silent_p.E339E|PROC_ENST00000409048.1_Silent_p.E318E|PROC_ENST00000422777.3_Silent_p.E284E	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	284	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACATCAAGGAGGTCTTCGTCC	0.632																																						uc002tok.2		NaN																	0					0						c.(850-852)GAG>GAA		protein C	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						112.0	91.0	98.0					2																	128185988		2203	4300	6503	SO:0001819	synonymous_variant	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128185988G>A	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.852G>A	2.37:g.128185988G>A						PROC_uc002tol.2_Silent_p.E305E|PROC_uc010yzi.1_Silent_p.E340E|PROC_uc010yzj.1_Silent_p.E179E|PROC_uc010yzk.1_Silent_p.E339E|PROC_uc002tom.2_Silent_p.E318E	p.E284E	NM_000312	NP_000303	P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	9	925	+	Colorectal(110;0.1)		284			Peptidase S1.		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Silent	SNP	ENST00000234071.3	37	c.852G>A	CCDS2145.1	.	.	.	.	.	.	.	.	.	.	G	0.253	-1.005011	0.02112	.	.	ENSG00000115718	ENST00000402125	.	.	.	5.26	-0.557	0.11800	.	.	.	.	.	T	0.46889	0.1416	.	.	.	0.37177	D	0.903308	.	.	.	.	.	.	T	0.44651	-0.9314	4	.	.	.	.	6.4677	0.21991	0.4106:0.1305:0.4589:0.0	.	.	.	.	K	59	.	.	R	+	2	0	PROC	127902458	0.000000	0.05858	0.022000	0.16811	0.210000	0.24377	-0.431000	0.06965	-0.019000	0.14055	0.561000	0.74099	AGG		0.632	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2		NM_000312		30	34	0	0	0	0.00632	0	30	34		
MYO7B	4648	broad.mit.edu	37	2	128324290	128324290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128324290C>T	ENST00000409816.2	+	4	390	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	MYO7B_ENST00000428314.1_Nonsense_Mutation_p.Q120*|MYO7B_ENST00000389524.4_Nonsense_Mutation_p.Q120*			Q6PIF6	MYO7B_HUMAN	myosin VIIB	120	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGCAGGTACAGCTCTACTA	0.592																																						uc002top.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(358-360)CAG>TAG		myosin VIIB							33.0	38.0	37.0					2																	128324290		2028	4174	6202	SO:0001587	stop_gained	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128324290C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.358C>T	2.37:g.128324290C>T	ENSP00000386461:p.Gln120*						p.Q120*	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	5	411	+	Colorectal(110;0.1)		120			Myosin head-like.		Q14786|Q8TEE1	Nonsense_Mutation	SNP	ENST00000409816.2	37	c.358C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428137	0.96131	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	.	.	.	5.55	5.55	0.83447	.	0.525998	0.18980	N	0.125906	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	9.6289	0.39768	0.1939:0.68:0.1261:0.0	.	.	.	.	X	120	.	ENSP00000374175:Q120X	Q	+	1	0	MYO7B	128040760	0.917000	0.31117	0.984000	0.44739	0.800000	0.45204	2.569000	0.45973	2.595000	0.87683	0.561000	0.74099	CAG		0.592	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3		XM_291001		4	17	0	0	0	0.009096	0	4	17		
LIMS2	55679	broad.mit.edu	37	2	128399647	128399647	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128399647G>A	ENST00000355119.4	-	6	802	c.637C>T	c.(637-639)Ctg>Ttg	p.L213L	LIMS2_ENST00000409286.1_Silent_p.L61L|LIMS2_ENST00000409455.1_Silent_p.L208L|LIMS2_ENST00000409754.1_Silent_p.L61L|LIMS2_ENST00000410011.1_Silent_p.L208L|LIMS2_ENST00000545738.2_Silent_p.L235L|LIMS2_ENST00000409254.1_Silent_p.L61L|LIMS2_ENST00000324938.5_Silent_p.L237L|LIMS2_ENST00000494613.1_5'Flank|LIMS2_ENST00000410038.1_Silent_p.L61L|LIMS2_ENST00000409808.2_Silent_p.L208L	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	213	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		TGCTTGCCCAGCGCGTTGACC	0.667																																						uc002tpa.2		NaN																	0					0						c.(637-639)CTG>TTG		LIM and senescent cell antigen-like domains 2							23.0	25.0	24.0					2																	128399647		2199	4298	6497	SO:0001819	synonymous_variant	55679				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	g.chr2:128399647G>A	AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.637C>T	2.37:g.128399647G>A						LIMS2_uc002tou.2_Silent_p.L21L|LIMS2_uc002tov.2_Silent_p.L61L|LIMS2_uc002tow.2_Silent_p.L61L|LIMS2_uc002tox.2_Silent_p.L237L|LIMS2_uc010fmb.2_Silent_p.L123L|LIMS2_uc002toy.2_Silent_p.L208L|LIMS2_uc010yzm.1_Silent_p.L235L|LIMS2_uc002toz.2_Silent_p.L208L|LIMS2_uc002tpb.2_Silent_p.L208L	p.L213L	NM_001161403	NP_001154875	Q7Z4I7	LIMS2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0681)	6	803	-	Colorectal(110;0.1)		213			LIM zinc-binding 4.		A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Silent	SNP	ENST00000355119.4	37	c.637C>T	CCDS54395.1																																																																																				0.667	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331133.2		NM_017980		3	12	0	0	0	0.004672	0	3	12		
SAP130	79595	broad.mit.edu	37	2	128699689	128699689	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:128699689C>G	ENST00000259235.3	-	20	3167	c.3038G>C	c.(3037-3039)aGa>aCa	p.R1013T	SAP130_ENST00000357702.5_Missense_Mutation_p.R1048T|SAP130_ENST00000259234.6_Missense_Mutation_p.R1021T	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1013	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CATGGAGTCTCTGGCTTCACT	0.413																																						uc002tpp.2		NaN																	0				ovary(2)|skin(2)	4						c.(3037-3039)AGA>ACA		Sin3A-associated protein, 130kDa isoform b							166.0	141.0	150.0					2																	128699689		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128699689C>G	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.3038G>C	2.37:g.128699689C>G	ENSP00000259235:p.Arg1013Thr					SAP130_uc002tpn.2_Missense_Mutation_p.R773T|SAP130_uc002tpo.2_Missense_Mutation_p.R793T|SAP130_uc010fmd.2_Missense_Mutation_p.R1048T	p.R1013T	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	20	3170	-	Colorectal(110;0.1)		1013			Interactions with SIN3A and HDAC1.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.3038G>C	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	.	15.48	2.846379	0.51164	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.96	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	N	0.24115	0.695	0.58432	D	0.999999	B;B;D;D	0.67145	0.449;0.449;0.996;0.996	B;B;D;D	0.77557	0.133;0.133;0.99;0.99	T	0.70970	-0.4727	9	0.72032	D	0.01	-19.8423	17.3961	0.87445	0.0:0.8755:0.1245:0.0	.	1048;1013;578;650	B7ZLM3;Q9H0E3;Q9H0E3-2;B3KRT9	.;SP130_HUMAN;.;.	T	1048;1013;1021	.	ENSP00000259234:R1021T	R	-	2	0	SAP130	128416159	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	7.354000	0.79424	1.530000	0.49136	0.655000	0.94253	AGA		0.413	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3		NM_024545		31	71	0	0	0	0.007291	0	31	71		
RAB3GAP1	22930	broad.mit.edu	37	2	135922214	135922214	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:135922214G>A	ENST00000264158.8	+	23	2700	c.2657G>A	c.(2656-2658)gGa>gAa	p.G886E	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.G842E|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.G886E	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	886					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACCGGTGCAGGAAGAGGACAT	0.498																																						uc002tuj.2		NaN																	0				ovary(1)|skin(1)	2						c.(2656-2658)GGA>GAA		RAB3 GTPase-activating protein							126.0	104.0	112.0					2																	135922214		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135922214G>A	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2657G>A	2.37:g.135922214G>A	ENSP00000264158:p.Gly886Glu					RAB3GAP1_uc010fnf.2_Missense_Mutation_p.G886E|RAB3GAP1_uc010fng.2_Missense_Mutation_p.G711E|RAB3GAP1_uc010fnh.1_RNA	p.G886E	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	23	2682	+			886					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2657G>A	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861806	0.91433	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.45668	0.89;0.89;0.9	4.97	4.97	0.65823	.	0.108350	0.64402	D	0.000007	T	0.57388	0.2050	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.986	P;P	0.60068	0.868;0.734	T	0.52139	-0.8615	10	0.30854	T	0.27	-22.0974	18.4144	0.90563	0.0:0.0:1.0:0.0	.	886;886	C9J837;Q15042	.;RB3GP_HUMAN	E	886;842;886	ENSP00000264158:G886E;ENSP00000444306:G842E;ENSP00000411418:G886E	ENSP00000264158:G886E	G	+	2	0	RAB3GAP1	135638684	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.760000	0.91671	2.586000	0.87340	0.591000	0.81541	GGA		0.498	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2		NM_012233		10	22	0	0	0	0.006214	0	10	22		
LYPD6B	130576	broad.mit.edu	37	2	150061768	150061768	+	Splice_Site	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:150061768T>C	ENST00000409029.1	+	4	209	c.7T>C	c.(7-9)Tat>Cat	p.Y3H	LYPD6B_ENST00000280115.7_Splice_Site_p.Y27H|LYPD6B_ENST00000409642.3_Splice_Site_p.Y27H|LYPD6B_ENST00000409876.1_Splice_Site_p.Y3H|LYPD6B_ENST00000498249.1_3'UTR			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	3						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TCACCATAGATATAAGAGTTC	0.433																																						uc002twv.1		NaN																	0					0						c.(79-81)TAT>CAT		LY6/PLAUR domain containing 6B							78.0	80.0	79.0					2																	150061768		2048	4193	6241	SO:0001630	splice_region_variant	130576					anchored to membrane|plasma membrane		g.chr2:150061768T>C		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.6-1T>C	2.37:g.150061768T>C						LYPD6B_uc002tww.1_5'UTR|LYPD6B_uc002twx.1_5'UTR	p.Y27H	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN			4	480	+			3					D3DP90|Q53TK0|Q7Z747|Q8IXK7	Missense_Mutation	SNP	ENST00000409029.1	37	c.79T>C		.	.	.	.	.	.	.	.	.	.	T	11.76	1.735552	0.30774	.	.	ENSG00000150556	ENST00000409642;ENST00000409876;ENST00000409029;ENST00000280115	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.72	0.54	0.17163	.	0.355537	0.22261	N	0.062403	T	0.05823	0.0152	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37934	-0.9684	9	.	.	.	0.0409	4.3042	0.10938	0.0:0.2584:0.38:0.3616	.	27	Q8NI32-2	.	H	27;3;3;27	ENSP00000387077:Y27H;ENSP00000386479:Y3H;ENSP00000386650:Y3H;ENSP00000280115:Y27H	.	Y	+	1	0	LYPD6B	149770014	0.256000	0.24012	0.001000	0.08648	0.000000	0.00434	0.364000	0.20325	-0.064000	0.13043	-0.313000	0.08912	TAT		0.433	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2		NM_177964	Missense_Mutation	52	43	0	0	0	0.01441	0	52	43		
LRP2	4036	broad.mit.edu	37	2	170151164	170151164	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:170151164G>C	ENST00000263816.3	-	5	769	c.484C>G	c.(484-486)Cag>Gag	p.Q162E	LRP2_ENST00000443831.1_Missense_Mutation_p.Q162E	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	162	LDL-receptor class A 4. {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)	p.Q162E(1)		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)"""	TCACACTTCTGACTGGTGTTA	0.393																																						uc002ues.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(484-486)CAG>GAG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						98.0	91.0	93.0					2																	170151164		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.chr2:170151164G>C		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.484C>G	2.37:g.170151164G>C	ENSP00000263816:p.Gln162Glu					LRP2_uc010zdf.1_Missense_Mutation_p.Q162E	p.Q162E	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	5	697	-			162			LDL-receptor class A 4.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.484C>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355314	0.61293	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91295	-2.82;-2.82	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.94676	0.8283	M	0.67625	2.065	0.80722	D	1	D;D	0.63046	0.992;0.989	D;D	0.72338	0.958;0.977	D	0.93967	0.7246	9	.	.	.	.	18.887	0.92383	0.0:0.0:1.0:0.0	.	162;162	E9PC35;P98164	.;LRP2_HUMAN	E	162	ENSP00000263816:Q162E;ENSP00000409813:Q162E	.	Q	-	1	0	LRP2	169859410	1.000000	0.71417	0.577000	0.28562	0.337000	0.28794	7.334000	0.79224	2.550000	0.86006	0.591000	0.81541	CAG		0.393	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		25	25	0	0	0	0.004656	0	25	25		
GPR155	151556	broad.mit.edu	37	2	175304649	175304649	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:175304649G>A	ENST00000392552.2	-	15	2527	c.2289C>T	c.(2287-2289)atC>atT	p.I763I	GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Silent_p.I763I|GPR155_ENST00000392551.2_Silent_p.I763I	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	763	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CAATGTTTCGGATACAGAGGT	0.343																																						uc002uit.2		NaN																	0				ovary(1)	1						c.(2287-2289)ATC>ATT		G protein-coupled receptor 155 isoform 9							149.0	148.0	148.0					2																	175304649		2203	4300	6503	SO:0001819	synonymous_variant	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175304649G>A	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2289C>T	2.37:g.175304649G>A						GPR155_uc002uiu.2_Silent_p.I763I|GPR155_uc002uiv.2_Silent_p.I763I|GPR155_uc010fqs.2_Silent_p.I735I	p.I763I	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN			16	2680	-			763			DEP.		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	ENST00000392552.2	37	c.2289C>T	CCDS2259.1																																																																																				0.343	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1		NM_152529		17	77	0	0	0	0.007413	0	17	77		
TTN	7273	broad.mit.edu	37	2	179587113	179587113	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:179587113A>G	ENST00000591111.1	-	75	21674	c.21450T>C	c.(21448-21450)acT>acC	p.T7150T	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.T6223T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.T7467T|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12725	Ig-like 53.				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)			CTACAAATGAAGTCTGTAGAT	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.(18667-18669)ACT>ACC		titin isoform N2-A							54.0	53.0	53.0					2																	179587113		1854	4106	5960	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587113A>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.21450T>C	2.37:g.179587113A>G						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2884T	p.T6223T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		74	18893	-			7150					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.18669T>C																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		35	24	0	0	0	0.012213	0	35	24		
PIKFYVE	200576	broad.mit.edu	37	2	209142384	209142384	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:209142384A>T	ENST00000264380.4	+	5	723	c.565A>T	c.(565-567)Agt>Tgt	p.S189C	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S189C|PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000308862.6_Intron	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	189					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATTTTCTGCAGTCGTTGCTG	0.383																																						uc002vcz.2		NaN																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(565-567)AGT>TGT		phosphatidylinositol-3-phosphate 5-kinase type							141.0	146.0	145.0					2																	209142384		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209142384A>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.565A>T	2.37:g.209142384A>T	ENSP00000264380:p.Ser189Cys					PIKFYVE_uc010fun.1_Intron|PIKFYVE_uc002vcy.1_Missense_Mutation_p.S189C|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Missense_Mutation_p.S189C|PIKFYVE_uc002vcx.2_Intron	p.S189C	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			5	723	+			189			FYVE-type.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.565A>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.001842	0.93227	.	.	ENSG00000115020	ENST00000264380;ENST00000407449;ENST00000422495;ENST00000452564	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.78	5.78	0.91487	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.997;0.999;0.996	D	0.83720	0.0192	10	0.87932	D	0	-16.1138	16.1067	0.81230	1.0:0.0:0.0:0.0	.	189;189;189	Q9Y2I7;E9PDH4;Q08AR7	FYV1_HUMAN;.;.	C	189;189;201;189	ENSP00000264380:S189C;ENSP00000384356:S189C;ENSP00000414477:S201C;ENSP00000405736:S189C	ENSP00000264380:S189C	S	+	1	0	PIKFYVE	208850629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.273000	0.95719	2.201000	0.70794	0.459000	0.35465	AGT		0.383	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2		NM_015040		27	107	0	0	0	0.009535	0	27	107		
TNS1	7145	broad.mit.edu	37	2	218712961	218712961	+	Missense_Mutation	SNP	C	C	T	rs372143060		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:218712961C>T	ENST00000171887.4	-	17	2356	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	TNS1_ENST00000430930.1_Missense_Mutation_p.R635Q|TNS1_ENST00000419504.1_Missense_Mutation_p.R635Q|TNS1_ENST00000480665.1_5'Flank	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	635					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCTTCCCCCTCGGACCGGAGC	0.642																																						uc002vgt.2		NaN																	0				ovary(3)|breast(1)	4						c.(1903-1905)CGA>CAA		tensin		C	GLN/ARG	1,4399		0,1,2199	28.0	27.0	27.0		1904	4.4	1.0	2		27	0,8582		0,0,4291	no	missense	TNS1	NM_022648.4	43	0,1,6490	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	635/1736	218712961	1,12981	2200	4291	6491	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712961C>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1904G>A	2.37:g.218712961C>T	ENSP00000171887:p.Arg635Gln					TNS1_uc002vgr.2_Missense_Mutation_p.R635Q|TNS1_uc002vgs.2_Missense_Mutation_p.R635Q|TNS1_uc010zjv.1_Missense_Mutation_p.R635Q|TNS1_uc010fvj.1_Missense_Mutation_p.R703Q|TNS1_uc010fvk.1_Missense_Mutation_p.R760Q|TNS1_uc010fvi.1_Missense_Mutation_p.R322Q	p.R635Q	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2302	-		Renal(207;0.0483)|Lung NSC(271;0.213)	635					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1904G>A	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992791	0.74703	2.27E-4	0.0	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.98602	-5.02;-5.02;-5.02;-3.98	4.42	4.42	0.53409	.	0.528179	0.19284	N	0.118087	D	0.98679	0.9557	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;P	0.83275	0.949;0.987;0.996;0.978;0.846	D	0.99833	1.1055	10	0.62326	D	0.03	.	17.2003	0.86904	0.0:1.0:0.0:0.0	.	635;689;635;635;635	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	Q	635;635;635;760	ENSP00000171887:R635Q;ENSP00000408724:R635Q;ENSP00000406016:R635Q;ENSP00000405460:R760Q	ENSP00000171887:R635Q	R	-	2	0	TNS1	218421206	1.000000	0.71417	0.958000	0.39756	0.635000	0.38103	4.734000	0.62043	2.293000	0.77203	0.561000	0.74099	CGA		0.642	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2		NM_022648		6	59	0	0	0	0.001168	0	6	59		
OBSL1	23363	broad.mit.edu	37	2	220434968	220434968	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:220434968G>A	ENST00000404537.1	-	1	1043	c.987C>T	c.(985-987)ctC>ctT	p.L329L	OBSL1_ENST00000373873.4_Silent_p.L329L|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_Silent_p.L329L|OBSL1_ENST00000373876.1_Silent_p.L329L|OBSL1_ENST00000289656.3_Intron|INHA_ENST00000243786.2_5'Flank|OBSL1_ENST00000603926.1_Silent_p.L329L|INHA_ENST00000489456.1_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	329	Ig-like 3.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCACGGCACTGAGCGTCTGGC	0.692																																						uc010fwk.2		NaN																	0					0						c.(985-987)CTC>CTT		obscurin-like 1							16.0	18.0	17.0					2																	220434968		2000	4120	6120	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220434968G>A	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.987C>T	2.37:g.220434968G>A						OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Silent_p.L329L|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank	p.L329L	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	1	1044	-		Renal(207;0.0376)	329			Ig-like 3.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.987C>T	CCDS46520.1																																																																																				0.692	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1				8	8	0	0	0	0.00308	0	8	8		
ATG16L1	55054	broad.mit.edu	37	2	234198934	234198934	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:234198934T>C	ENST00000392017.4	+	14	1622	c.1365T>C	c.(1363-1365)atT>atC	p.I455I	ATG16L1_ENST00000347464.5_Silent_p.I292I|ATG16L1_ENST00000392018.1_Silent_p.I472I|ATG16L1_ENST00000373525.5_Silent_p.I276I|ATG16L1_ENST00000392020.4_Silent_p.I436I|SCARNA6_ENST00000515982.1_RNA	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	455					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GCAATGATATTGTCTGCACAG	0.413																																						uc002vty.2		NaN																	0					0						c.(1363-1365)ATT>ATC		APG16 autophagy 16-like isoform 1							254.0	231.0	239.0					2																	234198934		2203	4300	6503	SO:0001819	synonymous_variant	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234198934T>C	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1365T>C	2.37:g.234198934T>C						ATG16L1_uc002vtx.1_Silent_p.I292I|ATG16L1_uc002vua.2_Silent_p.I436I|ATG16L1_uc002vub.2_Silent_p.I313I|ATG16L1_uc002vtz.2_Silent_p.I276I|ATG16L1_uc002vud.3_Silent_p.I371I	p.I455I	NM_030803	NP_110430	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	14	1622	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	455			WD 4.		A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Silent	SNP	ENST00000392017.4	37	c.1365T>C	CCDS2503.2																																																																																				0.413	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2		NM_017974		37	68	0	0	0	0.00623	0	37	68		
UGT1A10	54575	broad.mit.edu	37	2	234545483	234545483	+	Silent	SNP	A	A	C	rs45580232		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr2:234545483A>C	ENST00000344644.5	+	1	384	c.315A>C	c.(313-315)atA>atC	p.I105I	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.I105I	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	105					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	CACAAAGTATATTTTCTCTAT	0.388																																						uc002vur.2		NaN																	0				ovary(2)|skin(1)	3						c.(313-315)ATA>ATC		UDP glycosyltransferase 1 family, polypeptide							89.0	94.0	93.0					2																	234545483		2203	4300	6503	SO:0001819	synonymous_variant	54575				flavone metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding	g.chr2:234545483A>C	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.315A>C	2.37:g.234545483A>C						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Silent_p.I105I	p.I105I	NM_019075	NP_061948	Q9HAW8	UD110_HUMAN		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	361	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	105					O00474|Q6NT91|Q7Z6H8	Silent	SNP	ENST00000344644.5	37	c.315A>C	CCDS33403.1																																																																																				0.388	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1		NM_019075		19	73	0	0	0	0.006122	0	19	73		
DEFB125	245938	broad.mit.edu	37	20	76978	76978	+	Missense_Mutation	SNP	G	G	A	rs140898692		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:76978G>A	ENST00000382410.2	+	2	391	c.391G>A	c.(391-393)Gag>Aag	p.E131K	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	131					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			CACTACTCCCGAGACTACTAT	0.428																																						uc002wcw.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(391-393)GAG>AAG		defensin, beta 125 preproprotein		G	LYS/GLU	0,4406		0,0,2203	233.0	213.0	220.0		391	-3.0	0.0	20	dbSNP_134	220	1,8599		0,1,4299	yes	missense	DEFB125	NM_153325.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	131/157	76978	1,13005	2203	4300	6503	SO:0001583	missense	245938				defense response to bacterium	extracellular region		g.chr20:76978G>A	AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"""Defensins, beta"""	18105	protein-coding gene	gene with protein product	"""beta defensin 25"""					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.391G>A	20.37:g.76978G>A	ENSP00000371847:p.Glu131Lys						p.E131K	NM_153325	NP_697020	Q8N687	DB125_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.156)		2	391	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	131					A1A502|Q7Z7B9	Missense_Mutation	SNP	ENST00000382410.2	37	c.391G>A	CCDS12989.2	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.383795	0.00205	0.0	1.16E-4	ENSG00000178591	ENST00000382410	T	0.13196	2.61	1.48	-2.95	0.05564	.	.	.	.	.	T	0.03263	0.0095	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35943	-0.9768	9	0.08179	T	0.78	.	1.4815	0.02437	0.1749:0.1919:0.4407:0.1925	.	131	Q8N687	DB125_HUMAN	K	131	ENSP00000371847:E131K	ENSP00000371847:E131K	E	+	1	0	DEFB125	24978	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.096000	0.00296	-1.561000	0.01684	-1.475000	0.01000	GAG		0.428	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077426.2		NM_153325		55	324	0	0	0	0.01441	0	55	324		
ADAM33	80332	broad.mit.edu	37	20	3655249	3655249	+	Missense_Mutation	SNP	G	G	A	rs368581221		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:3655249G>A	ENST00000356518.2	-	6	743	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	ADAM33_ENST00000379861.4_Missense_Mutation_p.R168W|ADAM33_ENST00000350009.2_Missense_Mutation_p.R168W|ADAM33_ENST00000466620.1_5'Flank	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	168					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGCTCCATCCGAAAGATCTCG	0.607																																						uc002wit.2		NaN																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(502-504)CGG>TGG		ADAM metallopeptidase domain 33 isoform alpha		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	85.0	95.0	91.0		502,502	1.9	0.2	20		91	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADAM33	NM_153202.1,NM_025220.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	168/788,168/814	3655249	1,13005	2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3655249G>A	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.502C>T	20.37:g.3655249G>A	ENSP00000348912:p.Arg168Trp					ADAM33_uc002wir.1_Missense_Mutation_p.R168W|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.R168W|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.R180W|ADAM33_uc010zqh.1_Missense_Mutation_p.R168W	p.R168W	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			6	589	-			168			Extracellular (Potential).		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.502C>T	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	G	7.003	0.555196	0.13436	0.0	1.16E-4	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.02015	4.5;4.5;4.57	4.98	1.89	0.25635	.	.	.	.	.	T	0.01353	0.0044	N	0.12746	0.255	0.29570	N	0.849941	B;B;B;B;B	0.33694	0.421;0.027;0.046;0.027;0.027	B;B;B;B;B	0.24541	0.054;0.011;0.015;0.006;0.006	T	0.43861	-0.9365	9	0.66056	D	0.02	.	5.5461	0.17065	0.158:0.0:0.5463:0.2957	.	168;180;168;168;168	B4DTZ3;B4E1Y6;Q9BZ11-2;Q9BZ11;A2A2L3	.;.;.;ADA33_HUMAN;.	W	168	ENSP00000348912:R168W;ENSP00000369190:R168W;ENSP00000322550:R168W	ENSP00000322550:R168W	R	-	1	2	ADAM33	3603249	0.038000	0.19896	0.243000	0.24186	0.012000	0.07955	0.120000	0.15647	0.343000	0.23821	-0.137000	0.14449	CGG		0.607	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2		NM_025220		29	139	0	0	0	0.00632	0	29	139		
SMOX	54498	broad.mit.edu	37	20	4168011	4168011	+	Missense_Mutation	SNP	G	G	A	rs566360232		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:4168011G>A	ENST00000305958.4	+	7	1850	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	SMOX_ENST00000278795.3_Missense_Mutation_p.R519H|SMOX_ENST00000339123.6_Missense_Mutation_p.R489H|SMOX_ENST00000379460.2_Missense_Mutation_p.R542H|SMOX_ENST00000346595.2_Missense_Mutation_p.R177H	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	542					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GAGGCTGCCCGCCTCATTGAG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17183	0.0		0.0	False		,,,				2504	0.0					uc002wkm.1		NaN																	0				breast(1)	1						c.(1624-1626)CGC>CAC		spermine oxidase isoform 1	Spermine(DB00127)						61.0	53.0	56.0					20																	4168011		2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4168011G>A	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1625G>A	20.37:g.4168011G>A	ENSP00000307252:p.Arg542His					SMOX_uc002wkk.1_Missense_Mutation_p.R519H|SMOX_uc002wkl.1_Missense_Mutation_p.R489H|SMOX_uc002wkn.1_Missense_Mutation_p.R177H|SMOX_uc002wkp.2_Missense_Mutation_p.R572H|SMOX_uc010zqo.1_Missense_Mutation_p.R466H|SMOX_uc002wko.1_Missense_Mutation_p.R542H	p.R542H	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN			7	1826	+			542					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.1625G>A	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165618	0.38217	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000346595;ENST00000379460;ENST00000457205	D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	5.22	4.27	0.50696	Amine oxidase (1);	0.050195	0.85682	D	0.000000	D	0.92202	0.7527	M	0.84948	2.725	0.54753	D	0.999986	B;P;B;B;B;P	0.37083	0.159;0.581;0.213;0.385;0.1;0.581	B;B;B;B;B;B	0.31016	0.039;0.123;0.023;0.071;0.035;0.123	D	0.91219	0.5005	10	0.54805	T	0.06	-12.7215	11.6125	0.51069	0.0867:0.0:0.9133:0.0	.	466;572;177;542;489;519	B4DE63;Q9NWM0-6;Q9NWM0-3;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;.;SMOX_HUMAN;.;.	H	489;542;519;177;542;429	ENSP00000344595:R489H;ENSP00000307252:R542H;ENSP00000278795:R519H;ENSP00000341775:R177H;ENSP00000368773:R542H;ENSP00000407269:R429H	ENSP00000278795:R519H	R	+	2	0	SMOX	4116011	1.000000	0.71417	0.976000	0.42696	0.226000	0.24999	4.659000	0.61504	1.197000	0.43143	-0.145000	0.13849	CGC		0.632	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1		NM_175842		32	54	0	0	0	0.010818	0	32	54		
PCNA	5111	broad.mit.edu	37	20	5098271	5098271	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:5098271C>T	ENST00000379160.3	-	5	669	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	PCNA_ENST00000379143.5_Missense_Mutation_p.E143K	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	143					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						CGTGCAAATTCACCAGAAGGC	0.383								DNA polymerases (catalytic subunits)																														uc002wlp.2		NaN																	0				lung(1)	1						c.(427-429)GAA>AAA	DNA_polymerases_(catalytic_subunits)	proliferating cell nuclear antigen							109.0	107.0	108.0					20																	5098271		2203	4300	6503	SO:0001583	missense	5111				cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity	g.chr20:5098271C>T	J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.427G>A	20.37:g.5098271C>T	ENSP00000368458:p.Glu143Lys					PCNA_uc002wlq.2_Missense_Mutation_p.E143K	p.E143K	NM_182649	NP_872590	P12004	PCNA_HUMAN			4	630	-			143					B2R897|D3DW02	Missense_Mutation	SNP	ENST00000379160.3	37	c.427G>A	CCDS13087.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346475	0.95807	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	5.27	5.27	0.74061	Proliferating cell nuclear antigen, PCNA, C-terminal (1);	0.089929	0.85682	D	0.000000	T	0.73768	0.3629	M	0.80847	2.515	0.80722	D	1	P	0.50156	0.932	P	0.50378	0.639	T	0.78342	-0.2241	9	0.62326	D	0.03	-19.1312	17.4418	0.87567	0.0:1.0:0.0:0.0	.	143	P12004	PCNA_HUMAN	K	143	.	ENSP00000368438:E143K	E	-	1	0	PCNA	5046271	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.797000	0.85911	2.471000	0.83476	0.561000	0.74099	GAA		0.383	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2				29	118	0	0	0	0.013726	0	29	118		
RRBP1	6238	broad.mit.edu	37	20	17600979	17600979	+	Missense_Mutation	SNP	C	C	T	rs572437450		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:17600979C>T	ENST00000377813.1	-	18	3847	c.3544G>A	c.(3544-3546)Gag>Aag	p.E1182K	RRBP1_ENST00000360807.4_Missense_Mutation_p.E749K|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000377807.2_Missense_Mutation_p.E749K|RRBP1_ENST00000246043.4_Missense_Mutation_p.E1182K|RRBP1_ENST00000455029.2_Missense_Mutation_p.E523K			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1182					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTTAGCTTCTCTACAATCTCT	0.517																																						uc002wpv.1		NaN																	0				ovary(1)	1						c.(2245-2247)GAG>AAG		ribosome binding protein 1							148.0	143.0	145.0					20																	17600979		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17600979C>T	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3544G>A	20.37:g.17600979C>T	ENSP00000367044:p.Glu1182Lys					RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Missense_Mutation_p.E119K|RRBP1_uc002wpu.2_Missense_Mutation_p.E523K|RRBP1_uc002wpw.1_Missense_Mutation_p.E749K|RRBP1_uc010gcl.1_Missense_Mutation_p.E523K|RRBP1_uc010gcm.1_3'UTR	p.E749K	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN			19	2599	-			1182			Cytoplasmic (Potential).		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.2245G>A		.	.	.	.	.	.	.	.	.	.	C	14.63	2.592428	0.46214	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.65	3.62	0.41486	.	0.422145	0.17550	N	0.170207	T	0.53126	0.1777	M	0.78637	2.42	0.39751	D	0.971893	D;B	0.58268	0.982;0.267	P;B	0.49887	0.625;0.058	T	0.57081	-0.7872	10	0.38643	T	0.18	-19.131	13.9649	0.64202	0.0:0.7101:0.2899:0.0	.	749;1182	Q9P2E9-3;Q9P2E9	.;RRBP1_HUMAN	K	749;1182;749;1182;523	ENSP00000354045:E749K;ENSP00000367044:E1182K;ENSP00000367038:E749K;ENSP00000246043:E1182K;ENSP00000401206:E523K	ENSP00000246043:E1182K	E	-	1	0	RRBP1	17548979	0.987000	0.35691	0.388000	0.26195	0.235000	0.25334	2.673000	0.46858	0.664000	0.31047	0.557000	0.71058	GAG		0.517	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1		NM_001042576		56	89	0	0	0	0.01441	0	56	89		
RRBP1	6238	broad.mit.edu	37	20	17602568	17602568	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:17602568G>C	ENST00000377813.1	-	14	3475	c.3172C>G	c.(3172-3174)Ctg>Gtg	p.L1058V	RRBP1_ENST00000360807.4_Missense_Mutation_p.L625V|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000377807.2_Missense_Mutation_p.L625V|RRBP1_ENST00000246043.4_Missense_Mutation_p.L1058V|RRBP1_ENST00000455029.2_Missense_Mutation_p.L399V			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1058					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCCTCAATCAGACAGAGCTGC	0.612																																						uc002wpv.1		NaN																	0				ovary(1)	1						c.(1873-1875)CTG>GTG		ribosome binding protein 1							65.0	72.0	70.0					20																	17602568		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17602568G>C	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3172C>G	20.37:g.17602568G>C	ENSP00000367044:p.Leu1058Val					RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_5'UTR|RRBP1_uc002wpu.2_Missense_Mutation_p.L399V|RRBP1_uc002wpw.1_Missense_Mutation_p.L625V|RRBP1_uc010gcl.1_Missense_Mutation_p.L399V|RRBP1_uc010gcm.1_Missense_Mutation_p.L78V	p.L625V	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN			15	2227	-			1058			Cytoplasmic (Potential).		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.1873C>G		.	.	.	.	.	.	.	.	.	.	G	5.742	0.321344	0.10845	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	4.98	-0.842	0.10748	.	0.978140	0.08274	N	0.970922	T	0.37705	0.1013	L	0.43152	1.355	0.09310	N	1	D;B	0.67145	0.996;0.132	D;B	0.75484	0.986;0.047	T	0.32719	-0.9896	10	0.29301	T	0.29	-1.7083	1.8023	0.03073	0.2524:0.3531:0.2682:0.1263	.	582;625	A1A5C4;Q9P2E9-3	.;.	V	625;1058;625;1058;399	ENSP00000354045:L625V;ENSP00000367044:L1058V;ENSP00000367038:L625V;ENSP00000246043:L1058V;ENSP00000401206:L399V	ENSP00000246043:L1058V	L	-	1	2	RRBP1	17550568	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.651000	0.05372	0.220000	0.20860	-0.215000	0.12644	CTG		0.612	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1		NM_001042576		22	76	0	0	0	0.012319	0	22	76		
CST8	10047	broad.mit.edu	37	20	23472362	23472362	+	Missense_Mutation	SNP	G	G	A	rs375998352		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:23472362G>A	ENST00000246012.1	+	2	415	c.58G>A	c.(58-60)Gcc>Acc	p.A20T		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	20					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGCCCTGGTGGCCAGGAAAGA	0.557																																						uc002wth.1		NaN																	0					0						c.(58-60)GCC>ACC		cystatin 8 precursor		G	THR/ALA	0,4406		0,0,2203	109.0	109.0	109.0		58	2.8	0.0	20		109	1,8599	1.2+/-3.3	0,1,4299	no	missense	CST8	NM_005492.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	20/143	23472362	1,13005	2203	4300	6503	SO:0001583	missense	10047					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23472362G>A	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.58G>A	20.37:g.23472362G>A	ENSP00000246012:p.Ala20Thr						p.A20T	NM_005492	NP_005483	O60676	CST8_HUMAN			2	415	+	Colorectal(13;0.0431)|Lung NSC(19;0.235)		20					Q2M2X6	Missense_Mutation	SNP	ENST00000246012.1	37	c.58G>A	CCDS13156.1	.	.	.	.	.	.	.	.	.	.	G	8.186	0.794814	0.16327	0.0	1.16E-4	ENSG00000125815	ENST00000449810;ENST00000246012	T;T	0.11930	2.73;2.98	3.92	2.79	0.32731	.	0.781774	0.12234	N	0.487141	T	0.10165	0.0249	L	0.44542	1.39	0.09310	N	1	B	0.26744	0.158	B	0.22152	0.038	T	0.34204	-0.9838	10	0.17369	T	0.5	-2.3487	5.7931	0.18371	0.186:0.0:0.814:0.0	.	20	O60676	CST8_HUMAN	T	20	ENSP00000399144:A20T;ENSP00000246012:A20T	ENSP00000246012:A20T	A	+	1	0	CST8	23420362	0.043000	0.20138	0.001000	0.08648	0.024000	0.10985	0.478000	0.22212	0.990000	0.38787	0.655000	0.94253	GCC		0.557	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1				47	89	0	0	0	0.01441	0	47	89		
MAP1LC3A	84557	broad.mit.edu	37	20	33147580	33147580	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:33147580C>A	ENST00000360668.3	+	4	1005	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.L82M|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.L86M			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	82					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CTTCTTCCTGCTGGTGAACCA	0.632																																						uc002xaq.1		NaN																	0					0						c.(244-246)CTG>ATG		microtubule-associated protein 1 light chain 3							49.0	55.0	53.0					20																	33147580		2203	4300	6503	SO:0001583	missense	84557				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding	g.chr20:33147580C>A		CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.244C>A	20.37:g.33147580C>A	ENSP00000353886:p.Leu82Met					MAP1LC3A_uc002xap.1_Missense_Mutation_p.L86M	p.L82M	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN			4	398	+			82					E1P5P4|E1P5P5|Q9BXW5	Missense_Mutation	SNP	ENST00000360668.3	37	c.244C>A	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478341	0.84747	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.52754	0.65;0.65;0.65	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.66277	0.2773	M	0.71581	2.175	0.80722	D	1	B;D	0.69078	0.305;0.997	P;D	0.70716	0.517;0.97	T	0.68792	-0.5315	10	0.72032	D	0.01	-10.501	13.4602	0.61223	0.0:0.9237:0.0:0.0763	.	82;86	Q9H492;Q9H492-2	MLP3A_HUMAN;.	M	86;82;82	ENSP00000363970:L86M;ENSP00000353886:L82M;ENSP00000380821:L82M	ENSP00000353886:L82M	L	+	1	2	MAP1LC3A	32611241	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.640000	0.46579	2.619000	0.88677	0.313000	0.20887	CTG		0.632	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2		NM_181509		81	173	1	0	1.11057e-38	0.01441	1.22344e-38	81	173		
ACSS2	55902	broad.mit.edu	37	20	33507279	33507279	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:33507279C>T	ENST00000360596.2	+	8	1087	c.876C>T	c.(874-876)ctC>ctT	p.L292L	ACSS2_ENST00000253382.5_Silent_p.L305L|ACSS2_ENST00000336325.4_Silent_p.L242L|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	292					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCATGAGCTCATGCAAGAGG	0.557																																						uc002xbd.2		NaN																	0					0						c.(874-876)CTC>CTT		acyl-CoA synthetase short-chain family member 2	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						188.0	145.0	160.0					20																	33507279		2203	4300	6503	SO:0001819	synonymous_variant	55902				ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding	g.chr20:33507279C>T	AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.876C>T	20.37:g.33507279C>T						ACSS2_uc002xbc.2_Silent_p.L197L|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Silent_p.L305L|ACSS2_uc002xbe.2_5'UTR|ACSS2_uc002xbf.2_Intron	p.L292L	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN			8	997	+			292					A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Silent	SNP	ENST00000360596.2	37	c.876C>T	CCDS13243.1																																																																																				0.557	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3		NM_018677		55	154	0	0	0	0.01441	0	55	154		
BPI	671	broad.mit.edu	37	20	36937359	36937359	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:36937359C>T	ENST00000262865.4	+	3	374	c.285C>T	c.(283-285)ccC>ccT	p.P95P	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	95					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCCAGCTTCCCAGTTCCCAGA	0.448																																						uc002xib.2		NaN																	0				ovary(4)	4						c.(283-285)CCC>CCT		bactericidal/permeability-increasing protein							167.0	150.0	156.0					20																	36937359		2203	4300	6503	SO:0001819	synonymous_variant	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36937359C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.285C>T	20.37:g.36937359C>T							p.P95P	NM_001725	NP_001716	P17213	BPI_HUMAN			3	347	+		Myeloproliferative disorder(115;0.00878)	95					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	c.285C>T	CCDS13303.1																																																																																				0.448	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2		NM_001725		51	107	0	0	0	0.01441	0	51	107		
SLC32A1	140679	broad.mit.edu	37	20	37353467	37353467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:37353467C>T	ENST00000217420.1	+	1	363	c.100C>T	c.(100-102)Cag>Tag	p.Q34*		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	34					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GATGGGTTTTCAGGCGGCCAC	0.632																																						uc002xjc.2		NaN																	0					0						c.(100-102)CAG>TAG		solute carrier family 32, member 1	Glycine(DB00145)						46.0	31.0	36.0					20																	37353467		2202	4300	6502	SO:0001587	stop_gained	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37353467C>T	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.100C>T	20.37:g.37353467C>T	ENSP00000217420:p.Gln34*						p.Q34*	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			1	363	+		Myeloproliferative disorder(115;0.00878)	34			Cytoplasmic (Potential).		Q8N489	Nonsense_Mutation	SNP	ENST00000217420.1	37	c.100C>T	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	40	7.947417	0.98577	.	.	ENSG00000101438	ENST00000217420	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-11.7655	15.4432	0.75204	0.0:1.0:0.0:0.0	.	.	.	.	X	34	.	ENSP00000217420:Q34X	Q	+	1	0	SLC32A1	36786881	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.451000	0.80668	2.230000	0.72887	0.561000	0.74099	CAG		0.632	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1		NM_080552		19	19	0	0	0	0.008871	0	19	19		
CHD6	84181	broad.mit.edu	37	20	40044106	40044106	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:40044106G>C	ENST00000373233.3	-	34	6836	c.6659C>G	c.(6658-6660)tCc>tGc	p.S2220C	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2220					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGATGAGCAGGAGAGGTCCAT	0.612																																						uc002xka.1		NaN																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(6658-6660)TCC>TGC		chromodomain helicase DNA binding protein 6							30.0	28.0	28.0					20																	40044106		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40044106G>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6659C>G	20.37:g.40044106G>C	ENSP00000362330:p.Ser2220Cys					CHD6_uc002xjz.1_5'Flank	p.S2220C	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			34	6837	-		Myeloproliferative disorder(115;0.00425)	2220					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6659C>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751067	0.69533	.	.	ENSG00000124177	ENST00000373233	D	0.88046	-2.33	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000020	D	0.85575	0.5728	L	0.59436	1.845	0.80722	D	1	B	0.22851	0.076	B	0.20577	0.03	T	0.81297	-0.0996	10	0.51188	T	0.08	-15.4543	16.0514	0.80765	0.0:0.1333:0.8667:0.0	.	2220	Q8TD26	CHD6_HUMAN	C	2220	ENSP00000362330:S2220C	ENSP00000362330:S2220C	S	-	2	0	CHD6	39477520	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	6.589000	0.74080	2.890000	0.99128	0.650000	0.86243	TCC		0.612	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1				16	31	0	0	0	0.003163	0	16	31		
DNTTIP1	116092	broad.mit.edu	37	20	44430092	44430092	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:44430092A>G	ENST00000372622.3	+	6	561	c.493A>G	c.(493-495)Aaa>Gaa	p.K165E		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	165						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CCCCCTTCCTAAAAAGGTAAA	0.527																																						uc002xpk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(493-495)AAA>GAA		terminal deoxynucleotidyltransferase interacting							125.0	114.0	118.0					20																	44430092		2203	4300	6503	SO:0001583	missense	116092					nucleus		g.chr20:44430092A>G	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.493A>G	20.37:g.44430092A>G	ENSP00000361705:p.Lys165Glu						p.K165E	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN			6	561	+		Myeloproliferative disorder(115;0.0122)	165			Nuclear localization signal (Potential).		B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	ENST00000372622.3	37	c.493A>G	CCDS13369.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.722826	0.89298	.	.	ENSG00000101457	ENST00000372622;ENST00000415790	T;T	0.57107	0.66;0.42	6.06	6.06	0.98353	.	0.127866	0.64402	D	0.000001	T	0.70561	0.3238	M	0.68952	2.095	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.69935	-0.5010	10	0.41790	T	0.15	-18.9792	15.4333	0.75121	1.0:0.0:0.0:0.0	.	165	Q9H147	TDIF1_HUMAN	E	165;125	ENSP00000361705:K165E;ENSP00000392509:K125E	ENSP00000361705:K165E	K	+	1	0	DNTTIP1	43863499	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.233000	0.78125	2.324000	0.78689	0.533000	0.62120	AAA		0.527	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1		NM_052951		22	120	0	0	0	0.014323	0	22	120		
ADNP	23394	broad.mit.edu	37	20	49510909	49510909	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:49510909G>A	ENST00000396029.3	-	5	909	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ADNP_ENST00000396032.3_Silent_p.F114F|ADNP_ENST00000371602.4_Silent_p.F114F|ADNP_ENST00000349014.3_Silent_p.F114F	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	114					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TGTCTGCATTGAAGGTACAGT	0.393																																						uc002xvt.1		NaN																	0				ovary(2)	2						c.(340-342)TTC>TTT		activity-dependent neuroprotector							106.0	106.0	106.0					20																	49510909		2203	4300	6503	SO:0001819	synonymous_variant	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49510909G>A	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.342C>T	20.37:g.49510909G>A						ADNP_uc002xvu.1_Silent_p.F114F	p.F114F	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN			5	687	-			114			C2H2-type 2; atypical.		E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	c.342C>T	CCDS13433.1																																																																																				0.393	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2		NM_181442		43	115	0	0	0	0.010771	0	43	115		
BCAS1	8537	broad.mit.edu	37	20	52645077	52645077	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:52645077A>T	ENST00000395961.3	-	4	743	c.577T>A	c.(577-579)Ttt>Att	p.F193I	BCAS1_ENST00000411563.1_Missense_Mutation_p.F96I|BCAS1_ENST00000371435.2_Missense_Mutation_p.F193I|BCAS1_ENST00000371440.3_Missense_Mutation_p.F193I	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	193						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTGTCAAAAAAGCTGGAGTCC	0.562																																						uc002xws.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(577-579)TTT>ATT		breast carcinoma amplified sequence 1							150.0	150.0	150.0					20																	52645077		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52645077A>T	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.577T>A	20.37:g.52645077A>T	ENSP00000379290:p.Phe193Ile					BCAS1_uc010zzb.1_Missense_Mutation_p.F96I|BCAS1_uc010gim.2_Missense_Mutation_p.F96I|BCAS1_uc002xwt.2_Missense_Mutation_p.F193I|BCAS1_uc010gil.1_Missense_Mutation_p.F193I|BCAS1_uc010zzc.1_Missense_Mutation_p.F96I	p.F193I	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	915	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		193					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.577T>A	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.987565	0.53934	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13	5.11	3.98	0.46160	.	0.000000	0.64402	D	0.000002	T	0.24314	0.0589	M	0.66939	2.045	0.40081	D	0.976136	D;D;D;D;D;D	0.89917	0.998;0.985;0.985;1.0;1.0;1.0	D;P;P;D;D;D	0.87578	0.941;0.747;0.747;0.998;0.996;0.996	T	0.00735	-1.1588	10	0.72032	D	0.01	-3.3844	9.9205	0.41462	0.8286:0.1714:0.0:0.0	.	96;193;193;193;193;193	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	I	55;193;71;193;193;96	ENSP00000396361:F55I;ENSP00000360495:F193I;ENSP00000379290:F193I;ENSP00000360490:F193I;ENSP00000397442:F96I	ENSP00000360490:F193I	F	-	1	0	BCAS1	52078484	1.000000	0.71417	0.817000	0.32601	0.305000	0.27757	3.646000	0.54396	0.850000	0.35239	0.460000	0.39030	TTT		0.562	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2		NM_003657		74	110	0	0	0	0.01441	0	74	110		
TFAP2C	7022	broad.mit.edu	37	20	55206484	55206484	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:55206484A>G	ENST00000201031.2	+	2	515	c.272A>G	c.(271-273)cAc>cGc	p.H91R	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	91	Gln/Pro-rich (transactivation domain).				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|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 core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AACCCCCTGCACCAGCCGGCG	0.741																																						uc002xya.2		NaN																	0				central_nervous_system(1)	1						c.(271-273)CAC>CGC		transcription factor AP-2 gamma							8.0	8.0	8.0					20																	55206484		2131	4208	6339	SO:0001583	missense	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55206484A>G		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.272A>G	20.37:g.55206484A>G	ENSP00000201031:p.His91Arg					TFAP2C_uc010zzi.1_5'UTR	p.H91R	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		2	515	+			91			Gln/Pro-rich (transactivation domain).		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	c.272A>G	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854483	0.71719	.	.	ENSG00000087510	ENST00000201031;ENST00000416606	D;D	0.81908	-1.55;-1.55	5.48	5.48	0.80851	.	0.140457	0.64402	D	0.000003	T	0.82079	0.4959	M	0.62088	1.915	0.80722	D	1	B	0.27559	0.181	B	0.28638	0.092	T	0.81247	-0.1019	10	0.66056	D	0.02	-20.5427	15.5558	0.76192	1.0:0.0:0.0:0.0	.	91	Q92754	AP2C_HUMAN	R	91;79	ENSP00000201031:H91R;ENSP00000390857:H79R	ENSP00000201031:H91R	H	+	2	0	TFAP2C	54639891	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	6.469000	0.73555	2.084000	0.62774	0.402000	0.26972	CAC		0.741	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2		NM_003222		3	7	0	0	0	0.004672	0	3	7		
LSM14B	149986	broad.mit.edu	37	20	60706476	60706476	+	Silent	SNP	C	C	T	rs370488847		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr20:60706476C>T	ENST00000279068.6	+	7	1060	c.900C>T	c.(898-900)ccC>ccT	p.P300P	LSM14B_ENST00000253001.4_Silent_p.P300P	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	300					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCGAAGCGCCCGCTGAGGAAG	0.527																																						uc010gjy.1		NaN																	0					0						c.(898-900)CCC>CCT		LSM14 homolog B		C		0,3980		0,0,1990	61.0	67.0	65.0		900	-3.2	0.0	20		65	1,8321		0,1,4160	no	coding-synonymous	LSM14B	NM_144703.2		0,1,6150	TT,TC,CC		0.012,0.0,0.0081		300/386	60706476	1,12301	1990	4161	6151	SO:0001819	synonymous_variant	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60706476C>T	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.900C>T	20.37:g.60706476C>T						LSM14B_uc002ybv.2_Silent_p.P274P|LSM14B_uc010zzz.1_Silent_p.P220P	p.P300P	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		7	1106	+	Breast(26;3.97e-09)		300					Q6PFW8|Q96LH8	Silent	SNP	ENST00000279068.6	37	c.900C>T	CCDS46626.1																																																																																				0.527	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4		NM_144703		21	25	0	0	0	0.010504	0	21	25		
TIAM1	7074	broad.mit.edu	37	21	32525013	32525013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:32525013C>A	ENST00000286827.3	-	20	3778	c.3307G>T	c.(3307-3309)Gaa>Taa	p.E1103*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.E1043*	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1103	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACTCCATCTTCTAGAGTTTTA	0.378																																						uc002yow.1		NaN																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3307-3309)GAA>TAA		T-cell lymphoma invasion and metastasis 1							97.0	98.0	97.0					21																	32525013		2203	4300	6503	SO:0001587	stop_gained	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32525013C>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3307G>T	21.37:g.32525013C>A	ENSP00000286827:p.Glu1103*					TIAM1_uc011adk.1_Nonsense_Mutation_p.E1103*|TIAM1_uc011adl.1_Nonsense_Mutation_p.E1043*	p.E1103*	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			20	3779	-			1103			DH.		B7ZLR6|F5GZ53|Q17RT7	Nonsense_Mutation	SNP	ENST00000286827.3	37	c.3307G>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	47	13.204281	0.99727	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7535	0.96281	0.0:1.0:0.0:0.0	.	.	.	.	X	1103;944;1043	.	ENSP00000286827:E1103X	E	-	1	0	TIAM1	31446884	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.354000	0.79424	2.673000	0.90976	0.650000	0.86243	GAA		0.378	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1		NM_003253		25	57	1	0	9.57634e-11	0.01892	1.00784e-10	25	57		
MORC3	23515	broad.mit.edu	37	21	37741384	37741384	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:37741384A>G	ENST00000400485.1	+	15	1794	c.1718A>G	c.(1717-1719)gAt>gGt	p.D573G	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	573					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GGTGATGATGATGATGAAGAT	0.378																																						uc002yvi.2		NaN																	0				ovary(2)	2						c.(1717-1719)GAT>GGT		MORC family CW-type zinc finger 3							137.0	125.0	129.0					21																	37741384		1975	4155	6130	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741384A>G	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1718A>G	21.37:g.37741384A>G	ENSP00000383333:p.Asp573Gly						p.D573G	NM_015358	NP_056173	Q14149	MORC3_HUMAN			15	1794	+			573					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.1718A>G	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.732846	0.69189	.	.	ENSG00000159256	ENST00000400485	T	0.16897	2.31	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000005	T	0.38852	0.1056	M	0.65498	2.005	0.52099	D	0.999947	D	0.89917	1.0	D	0.71414	0.973	T	0.07158	-1.0787	10	0.25106	T	0.35	-28.9641	16.0067	0.80367	1.0:0.0:0.0:0.0	.	573	Q14149	MORC3_HUMAN	G	573	ENSP00000383333:D573G	ENSP00000383333:D573G	D	+	2	0	MORC3	36663254	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	4.078000	0.57606	2.187000	0.69744	0.402000	0.26972	GAT		0.378	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1		NM_015358		45	50	0	0	0	0.011902	0	45	50		
HLCS	3141	broad.mit.edu	37	21	38139583	38139583	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:38139583C>T	ENST00000399120.1	-	8	2685	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L	HLCS_ENST00000336648.4_Silent_p.L485L	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	485	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCTGAAACATCAGCCTGCCGA	0.567																																						uc010gnb.2		NaN																	0				ovary(2)|breast(1)|kidney(1)|liver(1)	5						c.(1453-1455)CTG>CTA		holocarboxylase synthetase	Biotin(DB00121)						100.0	85.0	90.0					21																	38139583		2203	4300	6503	SO:0001819	synonymous_variant	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38139583C>T		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1455G>A	21.37:g.38139583C>T						HLCS_uc002yvs.2_Silent_p.L485L	p.L485L	NM_000411	NP_000402	P50747	BPL1_HUMAN			7	2656	-		Myeloproliferative disorder(46;0.0422)	485					B2RAH1|D3DSG6|Q99451	Silent	SNP	ENST00000399120.1	37	c.1455G>A	CCDS13647.1																																																																																				0.567	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2				14	56	0	0	0	0.00245	0	14	56		
HMGN1	3150	broad.mit.edu	37	21	40715063	40715063	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:40715063C>T	ENST00000380749.5	-	6	560	c.278G>A	c.(277-279)gGa>gAa	p.G93E	Y_RNA_ENST00000517106.1_RNA|HMGN1_ENST00000380747.1_Missense_Mutation_p.G109E|HMGN1_ENST00000361263.4_Missense_Mutation_p.E57K|snoU13_ENST00000459446.1_RNA|HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380748.1_Missense_Mutation_p.G83E	NM_004965.6	NP_004956.5	P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	93					chromatin organization (GO:0006325)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|post-embryonic camera-type eye morphogenesis (GO:0048597)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of development, heterochronic (GO:0040034)|regulation of epithelial cell proliferation (GO:0050678)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to UV-B (GO:0010224)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				TTCTTTCTCTCCTGCTTCATC	0.368																																						uc002yxo.2		NaN																	0				breast(1)	1						c.(277-279)GGA>GAA		high-mobility group nucleosome binding domain 1							80.0	83.0	82.0					21																	40715063		2203	4300	6503	SO:0001583	missense	3150				positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding	g.chr21:40715063C>T		CCDS33559.1	21q22.3	2011-07-01	2011-04-05	2002-08-16	ENSG00000205581	ENSG00000205581		"""High-mobility group / Canonical"""	4984	protein-coding gene	gene with protein product	"""high-mobility group nucleosome binding 1"", ""nonhistone chromosomal protein HMG-14"""	163920	"""high-mobility group (nonhistone chromosomal) protein 14"", ""high-mobility group nucleosome binding domain 1"""	HMG14		3782107, 2563381	Standard	NM_004965		Approved	FLJ27265, FLJ31471, MGC104230, MGC117425	uc002yxo.3	P05114	OTTHUMG00000066178	ENST00000380749.5:c.278G>A	21.37:g.40715063C>T	ENSP00000370125:p.Gly93Glu					HMGN1_uc002yxp.2_Missense_Mutation_p.E57K|HMGN1_uc002yxq.2_Missense_Mutation_p.E57K|HMGN1_uc002yxr.2_RNA	p.G93E	NM_004965	NP_004956	P05114	HMGN1_HUMAN			6	482	-		Prostate(19;8.69e-07)	93					Q3KQR8	Missense_Mutation	SNP	ENST00000380749.5	37	c.278G>A	CCDS33559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.42|10.42	1.344415|1.344415	0.24339|0.24339	.|.	.|.	ENSG00000205581|ENSG00000205581	ENST00000361263|ENST00000380749;ENST00000380748;ENST00000380747	.|.	.|.	.|.	4.81|4.81	2.79|2.79	0.32731|0.32731	.|.	0.424743|.	0.15688|.	N|.	0.249581|.	T|T	0.31670|0.31670	0.0804|0.0804	L|L	0.54908|0.54908	1.71|1.71	0.24328|0.24328	N|N	0.995018|0.995018	B|B	0.06786|0.15930	0.001|0.015	B|B	0.08055|0.17722	0.003|0.019	T|T	0.31833|0.31833	-0.9929|-0.9929	9|8	0.29301|0.21540	T|T	0.29|0.41	.|.	1.9497|1.9497	0.03364|0.03364	0.1522:0.4883:0.149:0.2105|0.1522:0.4883:0.149:0.2105	.|.	57|93	A6NGZ2|P05114	.|HMGN1_HUMAN	K|E	57|93;83;109	.|.	ENSP00000355293:E57K|ENSP00000370123:G109E	E|G	-|-	1|2	0|0	HMGN1|HMGN1	39636933|39636933	0.978000|0.978000	0.34361|0.34361	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.412000|0.412000	0.21131|0.21131	0.299000|0.299000	0.22661|0.22661	0.644000|0.644000	0.83932|0.83932	GAG|GGA		0.368	HMGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141645.2		NM_004965		9	44	0	0	0	0.006214	0	9	44		
DSCAM	1826	broad.mit.edu	37	21	42218552	42218552	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:42218552G>A	ENST00000400454.1	-	1	513	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	12					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACCATTCGCGAAGCTCTGGA	0.657																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NaN																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(34-36)TTC>TTT		Down syndrome cell adhesion molecule isoform							14.0	16.0	15.0					21																	42218552		1818	4081	5899	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:42218552G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.36C>T	21.37:g.42218552G>A						DSCAM_uc002yyr.1_RNA	p.F12F	NM_001389	NP_001380	O60469	DSCAM_HUMAN			1	488	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	12					O60468	Silent	SNP	ENST00000400454.1	37	c.36C>T	CCDS42929.1																																																																																				0.657	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389		5	2	0	0	0	0.014758	0	5	2		
RSPH1	89765	broad.mit.edu	37	21	43916272	43916272	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:43916272A>G	ENST00000291536.3	-	1	192	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	SLC37A1_ENST00000454800.1_3'UTR|AP001625.4_ENST00000416179.1_RNA|RSPH1_ENST00000398352.3_Silent_p.L9L	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	9					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TCCTCCTCCAACTCCTCCGAG	0.657																																					Esophageal Squamous(23;63 706 6286 10288 12913)	uc002zbg.2		NaN																	0				ovary(1)	1						c.(25-27)TTG>CTG		testis-specific gene A2							138.0	119.0	125.0					21																	43916272		2203	4300	6503	SO:0001819	synonymous_variant	89765				meiosis	cytosol|nucleus		g.chr21:43916272A>G	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.25T>C	21.37:g.43916272A>G						SLC37A1_uc002zbh.1_RNA	p.L9L	NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN			1	130	-			9					A8MWV0|B2RBN9|Q3MJA1	Silent	SNP	ENST00000291536.3	37	c.25T>C	CCDS13688.1																																																																																				0.657	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195379.1				13	36	0	0	0	0.004007	0	13	36		
DIP2A	23181	broad.mit.edu	37	21	47953951	47953951	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr21:47953951G>A	ENST00000417564.2	+	12	1485	c.1464G>A	c.(1462-1464)ggG>ggA	p.G488G	DIP2A_ENST00000435722.3_Silent_p.G488G|Metazoa_SRP_ENST00000607098.1_RNA|DIP2A_ENST00000400274.1_Silent_p.G484G|DIP2A_ENST00000466639.1_Silent_p.G445G|DIP2A_ENST00000427143.2_Silent_p.G424G|DIP2A_ENST00000457905.3_Silent_p.G488G|DIP2A_ENST00000318711.7_Silent_p.G489G			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	488					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGATTGATGGGAAGCATCTAG	0.562																																						uc002zjo.2		NaN																	0				ovary(2)	2						c.(1462-1464)GGG>GGA		disco-interacting protein 2A isoform a							35.0	38.0	37.0					21																	47953951		2027	4177	6204	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47953951G>A	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1464G>A	21.37:g.47953951G>A						DIP2A_uc011afy.1_Silent_p.G424G|DIP2A_uc011afz.1_Silent_p.G484G|DIP2A_uc002zjl.2_Silent_p.G488G|DIP2A_uc002zjm.2_Silent_p.G488G|DIP2A_uc010gql.2_Silent_p.G445G|DIP2A_uc002zjn.2_Silent_p.G488G|DIP2A_uc002zjp.1_Silent_p.G233G	p.G488G	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	12	1647	+	Breast(49;0.0933)		488					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.1464G>A	CCDS46655.1																																																																																				0.562	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1		NM_015151		4	16	0	0	0	0.009096	0	4	16		
CLTCL1	8218	broad.mit.edu	37	22	19222205	19222205	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:19222205C>T	ENST00000263200.10	-	7	1066	c.994G>A	c.(994-996)Gat>Aat	p.D332N	CLTCL1_ENST00000353891.5_Missense_Mutation_p.D332N|CLTCL1_ENST00000427926.1_Missense_Mutation_p.D332N	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	332	Globular terminal domain.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACAATGTTATCTTCCTCAACA	0.502			T	?	ALCL																																	uc002zpb.2		NaN		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	NaN		ALCL		0				ovary(4)|central_nervous_system(1)	5						c.(994-996)GAT>AAT		clathrin, heavy polypeptide-like 1 isoform 1							121.0	122.0	121.0					22																	19222205		2005	4188	6193	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19222205C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.994G>A	22.37:g.19222205C>T	ENSP00000445677:p.Asp332Asn					CLTCL1_uc011agv.1_Missense_Mutation_p.D332N|CLTCL1_uc011agw.1_Missense_Mutation_p.D332N	p.D332N	NM_007098	NP_009029	P53675	CLH2_HUMAN			7	1069	-	Colorectal(54;0.0993)		332			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.994G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357842	0.41801	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.41065	1.01;1.01;1.01	3.3	3.3	0.37823	Clathrin, heavy chain, linker, core motif (1);Armadillo-type fold (1);Clathrin, heavy chain, linker/propeller domain (1);	0.376640	0.24182	N	0.040786	T	0.36331	0.0963	L	0.31207	0.915	0.47819	D	0.999526	B;B	0.33940	0.0;0.433	B;B	0.42087	0.003;0.375	T	0.09796	-1.0658	10	0.14656	T	0.56	-1.0579	15.1149	0.72394	0.0:1.0:0.0:0.0	.	332;332	P53675-2;P53675	.;CLH2_HUMAN	N	332	ENSP00000439662:D332N;ENSP00000445677:D332N;ENSP00000441158:D332N	ENSP00000445677:D332N	D	-	1	0	CLTCL1	17602205	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	5.186000	0.65082	1.851000	0.53745	0.467000	0.42956	GAT		0.502	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5		NM_007098		48	30	0	0	0	0.01441	0	48	30		
CLTCL1	8218	broad.mit.edu	37	22	19222208	19222208	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:19222208C>T	ENST00000263200.10	-	7	1063	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E331K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E331K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	331	Globular terminal domain.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATGTTATCTTCCTCAACACAA	0.507			T	?	ALCL																																	uc002zpb.2		NaN		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	NaN		ALCL		0				ovary(4)|central_nervous_system(1)	5						c.(991-993)GAA>AAA		clathrin, heavy polypeptide-like 1 isoform 1							120.0	120.0	120.0					22																	19222208		2011	4190	6201	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19222208C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.991G>A	22.37:g.19222208C>T	ENSP00000445677:p.Glu331Lys					CLTCL1_uc011agv.1_Missense_Mutation_p.E331K|CLTCL1_uc011agw.1_Missense_Mutation_p.E331K	p.E331K	NM_007098	NP_009029	P53675	CLH2_HUMAN			7	1066	-	Colorectal(54;0.0993)		331			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.991G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591749	0.86953	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.12361	2.69;2.69;2.69	3.3	3.3	0.37823	Clathrin, heavy chain, linker, core motif (1);Armadillo-type fold (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.64402	D	0.000002	T	0.38161	0.1030	M	0.81802	2.56	0.80722	D	1	D;D	0.71674	0.986;0.998	D;D	0.91635	0.942;0.999	T	0.37056	-0.9722	10	0.41790	T	0.15	-12.4888	15.1149	0.72394	0.0:1.0:0.0:0.0	.	331;331	P53675-2;P53675	.;CLH2_HUMAN	K	331	ENSP00000439662:E331K;ENSP00000445677:E331K;ENSP00000441158:E331K	ENSP00000445677:E331K	E	-	1	0	CLTCL1	17602208	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.859000	0.75467	1.851000	0.53745	0.467000	0.42956	GAA		0.507	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5		NM_007098		50	31	0	0	0	0.01441	0	50	31		
LZTR1	8216	broad.mit.edu	37	22	21351029	21351029	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:21351029G>T	ENST00000215739.8	+	19	2623	c.2264G>T	c.(2263-2265)cGg>cTg	p.R755L	LZTR1_ENST00000389355.3_Missense_Mutation_p.R736L|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	755					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TACAACAACCGGCTGCAGGCG	0.617																																						uc002zto.2		NaN																	0				ovary(2)|lung(2)	4						c.(2263-2265)CGG>CTG		leucine-zipper-like transcription regulator 1							56.0	47.0	50.0					22																	21351029		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21351029G>T	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.2264G>T	22.37:g.21351029G>T	ENSP00000215739:p.Arg755Leu					LZTR1_uc002ztn.2_Missense_Mutation_p.R714L|LZTR1_uc011ahy.1_Missense_Mutation_p.R736L|LZTR1_uc002ztp.2_Missense_Mutation_p.R61L	p.R755L	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		19	2367	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	755					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.2264G>T	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	36	5.815855	0.96982	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.62364	0.45;0.03	5.88	5.88	0.94601	BTB/POZ-like (1);BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	D	0.85805	0.5782	H	0.95780	3.72	0.80722	D	1	D;D;D;D	0.89917	0.992;1.0;1.0;0.996	P;D;D;D	0.91635	0.9;0.999;0.999;0.992	D	0.89361	0.3668	10	0.87932	D	0	-35.694	17.7361	0.88394	0.0:0.0:1.0:0.0	.	736;467;755;714	B7Z3T9;B2R8T5;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	L	714;755;736	ENSP00000215739:R755L;ENSP00000374006:R736L	ENSP00000215739:R755L	R	+	2	0	LZTR1	19681029	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.789000	0.99068	2.782000	0.95742	0.655000	0.94253	CGG		0.617	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1		NM_006767		19	9	1	0	0.00121646	0.008871	0.00123238	19	9		
SUSD2	56241	broad.mit.edu	37	22	24582315	24582315	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:24582315G>T	ENST00000358321.3	+	10	1835	c.1574G>T	c.(1573-1575)gGa>gTa	p.G525V		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	525	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.G525V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AACAGGACCGGAGGTCTGGAG	0.652																																						uc002zzn.1		NaN																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1573-1575)GGA>GTA		sushi domain containing 2 precursor							105.0	80.0	89.0					22																	24582315		2203	4300	6503	SO:0001583	missense	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24582315G>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1574G>T	22.37:g.24582315G>T	ENSP00000351075:p.Gly525Val						p.G525V	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			10	1618	+			525			VWFD.|Extracellular (Potential).		Q9H5Y6	Missense_Mutation	SNP	ENST00000358321.3	37	c.1574G>T	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	G	4.601	0.111635	0.08831	.	.	ENSG00000099994	ENST00000358321	T	0.21734	1.99	4.83	-0.408	0.12381	von Willebrand factor, type D domain (3);	1.260870	0.05012	N	0.471181	T	0.15176	0.0366	L	0.48642	1.525	0.09310	N	0.999994	B	0.09022	0.002	B	0.17722	0.019	T	0.29305	-1.0016	10	0.11794	T	0.64	-9.1315	1.2597	0.01999	0.2632:0.1487:0.4355:0.1526	.	525	Q9UGT4	SUSD2_HUMAN	V	525	ENSP00000351075:G525V	ENSP00000351075:G525V	G	+	2	0	SUSD2	22912315	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.013000	0.13310	0.160000	0.19432	0.555000	0.69702	GGA		0.652	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1		NM_019601		5	19	1	0	3.59834e-05	0.001168	3.70076e-05	5	19		
MTMR3	8897	broad.mit.edu	37	22	30394794	30394794	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:30394794G>C	ENST00000401950.2	+	8	847	c.505G>C	c.(505-507)Ggt>Cgt	p.G169R	MTMR3_ENST00000323630.5_Missense_Mutation_p.G33R|MTMR3_ENST00000333027.3_Missense_Mutation_p.G169R|MTMR3_ENST00000351488.3_Missense_Mutation_p.G169R|MTMR3_ENST00000406629.1_Missense_Mutation_p.G169R	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	169	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGAGAGGATGGGTTTTGATAT	0.428																																						uc003agv.3		NaN																	0				breast(3)|ovary(1)|skin(1)	5						c.(505-507)GGT>CGT		myotubularin-related protein 3 isoform c							122.0	108.0	113.0					22																	30394794		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30394794G>C	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.505G>C	22.37:g.30394794G>C	ENSP00000384651:p.Gly169Arg					MTMR3_uc003agu.3_Missense_Mutation_p.G169R|MTMR3_uc003agw.3_Missense_Mutation_p.G169R	p.G169R	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		8	833	+			169			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.505G>C	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464576	0.84425	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96	5.75	4.74	0.60224	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.96386	0.8821	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;0.969;1.0	D;P;D	0.97110	1.0;0.876;1.0	D	0.96877	0.9643	10	0.72032	D	0.01	.	13.8418	0.63444	0.073:0.0:0.927:0.0	.	169;169;169	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	R	169;169;33;169;169	ENSP00000384651:G169R;ENSP00000331649:G169R;ENSP00000318070:G33R;ENSP00000307271:G169R;ENSP00000384077:G169R	ENSP00000318070:G33R	G	+	1	0	MTMR3	28724794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	1.426000	0.47256	-0.136000	0.14681	GGT		0.428	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1		NM_021090		4	12	0	0	0	0.009096	0	4	12		
MYH9	4627	broad.mit.edu	37	22	36745173	36745173	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:36745173C>G	ENST00000216181.5	-	2	339	c.109G>C	c.(109-111)Gac>Cac	p.D37H	MYH9_ENST00000401701.1_Missense_Mutation_p.D37H	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	37					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCACTCTTGTCGGAAGGCACC	0.552			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NaN		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(109-111)GAC>CAC		myosin, heavy polypeptide 9, non-muscle							80.0	69.0	73.0					22																	36745173		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36745173C>G		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.109G>C	22.37:g.36745173C>G	ENSP00000216181:p.Asp37His					MYH9_uc003api.1_Missense_Mutation_p.D37H	p.D37H	NM_002473	NP_002464	P35579	MYH9_HUMAN			2	340	-			37			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.109G>C	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467969	0.84533	.	.	ENSG00000100345	ENST00000216181;ENST00000401701;ENST00000456729	T;T;T	0.80653	-1.4;-1.4;-1.4	5.32	4.29	0.51040	Myosin, N-terminal, SH3-like (1);	0.282980	0.38111	N	0.001805	D	0.83594	0.5288	L	0.46157	1.445	0.39716	D	0.971393	P;P	0.50819	0.939;0.73	P;P	0.57911	0.829;0.719	D	0.85606	0.1255	10	0.72032	D	0.01	.	13.0494	0.58946	0.0:0.9213:0.0:0.0787	.	37;37	Q5BKV1;P35579	.;MYH9_HUMAN	H	37	ENSP00000216181:D37H;ENSP00000384631:D37H;ENSP00000414852:D37H	ENSP00000216181:D37H	D	-	1	0	MYH9	35075119	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	6.025000	0.70864	1.216000	0.43427	0.563000	0.77884	GAC		0.552	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		12	18	0	0	0	0.016723	0	12	18		
CARD10	29775	broad.mit.edu	37	22	37904564	37904564	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:37904564C>T	ENST00000403299.1	-	6	1251	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	CARD10_ENST00000251973.5_Silent_p.E345E|CARD10_ENST00000406271.3_Silent_p.E59E|CARD10_ENST00000494166.1_5'UTR			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	345					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CCCACTGCAGCTCCCCCTGCA	0.697																																						uc003asx.1		NaN																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6						c.(1033-1035)GAG>GAA		caspase recruitment domain protein 10							18.0	19.0	18.0					22																	37904564		2196	4297	6493	SO:0001819	synonymous_variant	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37904564C>T	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1035G>A	22.37:g.37904564C>T						CARD10_uc003ast.1_RNA|CARD10_uc003asw.1_Silent_p.E59E|CARD10_uc003asy.1_Silent_p.E345E	p.E345E	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN			5	1038	-	Melanoma(58;0.0574)		345			Potential.		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	c.1035G>A	CCDS13948.1																																																																																				0.697	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1		NM_014550		4	4	0	0	0	0.009096	0	4	4		
FAM83F	113828	broad.mit.edu	37	22	40415995	40415995	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:40415995G>A	ENST00000333407.6	+	3	856	c.762G>A	c.(760-762)gtG>gtA	p.V254V	FAM83F_ENST00000473717.1_Silent_p.V86V	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	254										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GTGACAAAGTGGCCACTGGAT	0.587																																						uc003ayk.1		NaN																	0				breast(1)	1						c.(760-762)GTG>GTA		hypothetical protein LOC113828							111.0	100.0	104.0					22																	40415995		2203	4300	6503	SO:0001819	synonymous_variant	113828							g.chr22:40415995G>A		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.762G>A	22.37:g.40415995G>A							p.V254V	NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN			3	856	+			254					Q96FD6	Silent	SNP	ENST00000333407.6	37	c.762G>A	CCDS14000.2																																																																																				0.587	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3		NM_138435		41	20	0	0	0	0.009718	0	41	20		
ACO2	50	broad.mit.edu	37	22	41913629	41913629	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:41913629C>G	ENST00000216254.4	+	7	956	c.934C>G	c.(934-936)Cgg>Ggg	p.R312G	ACO2_ENST00000396512.3_Missense_Mutation_p.R337G|ACO2_ENST00000466237.1_3'UTR	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	312					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CAAGACCGGCCGGGAAGGTGA	0.592											OREG0026588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bac.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(934-936)CGG>GGG		aconitase 2, mitochondrial precursor							67.0	49.0	55.0					22																	41913629		2203	4300	6503	SO:0001583	missense	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41913629C>G	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.934C>G	22.37:g.41913629C>G	ENSP00000216254:p.Arg312Gly		OREG0026588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	904	ACO2_uc003bad.2_Missense_Mutation_p.R337G	p.R312G	NM_001098	NP_001089	Q99798	ACON_HUMAN			7	956	+			312					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.934C>G	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339238	0.81911	.	.	ENSG00000100412	ENST00000541439;ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.52754	0.65;0.65	5.86	4.83	0.62350	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.78052	0.4223	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83637	0.0148	10	0.87932	D	0	.	10.1841	0.42986	0.1337:0.7973:0.0:0.0691	.	337;312	A2A274;Q99798	.;ACON_HUMAN	G	33;293;312;337	ENSP00000216254:R312G;ENSP00000379769:R337G	ENSP00000216254:R312G	R	+	1	2	ACO2	40243575	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.163000	0.42377	2.777000	0.95525	0.591000	0.81541	CGG		0.592	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1		NM_001098		5	15	0	0	0	0.014758	0	5	15		
SERHL2	253190	broad.mit.edu	37	22	42952596	42952596	+	Splice_Site	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:42952596T>A	ENST00000327678.5	+	6	525		c.e6+2		SERHL2_ENST00000335879.5_Splice_Site|SERHL2_ENST00000407614.4_Intron|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000340239.4_Splice_Site	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2								hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						GAATCAGATGTGAGAAGCGGG	0.562																																						uc003bcr.2		NaN																	0					0						c.e6+2		serine hydrolase-like 2							142.0	91.0	108.0					22																	42952596		2202	4280	6482	SO:0001630	splice_region_variant	253190					perinuclear region of cytoplasm|peroxisome	hydrolase activity	g.chr22:42952596T>A		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892	ENST00000327678.5:c.423+2T>A	22.37:g.42952596T>A						SERHL_uc011apm.1_Intron|SERHL2_uc011apn.1_Splice_Site_p.D127_splice|SERHL2_uc010gyz.2_Splice_Site_p.D77_splice|SERHL2_uc010gyy.2_Splice_Site|SERHL2_uc011apo.1_Splice_Site|RRP7B_uc003bcs.2_RNA	p.D141_splice	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN			6	525	+								Q5JZ95|Q9UH21	Splice_Site	SNP	ENST00000327678.5	37	c.423_splice	CCDS14037.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501601	0.26949	.	.	ENSG00000183569	ENST00000447870;ENST00000327678;ENST00000340239;ENST00000335879	.	.	.	3.1	3.1	0.35709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9892	0.41860	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SERHL2	41282540	1.000000	0.71417	0.079000	0.20413	0.074000	0.17049	3.678000	0.54627	1.655000	0.50712	0.528000	0.53228	.		0.562	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1		NM_014509	Intron	38	83	0	0	0	0.01441	0	38	83		
ITPR1	3708	broad.mit.edu	37	3	4730215	4730215	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:4730215G>A	ENST00000443694.2	+	28	3694	c.3694G>A	c.(3694-3696)Gct>Act	p.A1232T	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.A1238T|ITPR1_ENST00000302640.8_Missense_Mutation_p.A1232T|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1238T|ITPR1_ENST00000456211.2_Missense_Mutation_p.A1223T|ITPR1_ENST00000354582.6_Missense_Mutation_p.A1247T			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1247					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)	AATGAGGTTGGCTCATGAATT	0.468																																						uc003bqa.2		NaN																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(3712-3714)GCT>ACT		inositol 1,4,5-triphosphate receptor, type 1							131.0	129.0	130.0					3																	4730215		1922	4135	6057	SO:0001583	missense	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.chr3:4730215G>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.3694G>A	3.37:g.4730215G>A	ENSP00000401671:p.Ala1232Thr					ITPR1_uc010hca.1_Missense_Mutation_p.A1223T|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.A169T	p.A1238T	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	31	4060	+			1247			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.3712G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674692	0.88445	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.39	5.39	0.77823	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	L	0.58101	1.795	0.80722	D	1	D;B	0.89917	1.0;0.15	D;B	0.97110	1.0;0.101	D	0.89480	0.3749	10	0.35671	T	0.21	.	19.1808	0.93622	0.0:0.0:1.0:0.0	.	1247;1238	Q14643;G5E9P1	ITPR1_HUMAN;.	T	1247;1232;1247;1238;1238;1223;1232	ENSP00000306253:A1232T;ENSP00000346595:A1247T;ENSP00000405934:A1238T;ENSP00000349597:A1238T;ENSP00000397885:A1223T;ENSP00000401671:A1232T	ENSP00000306253:A1232T	A	+	1	0	ITPR1	4705215	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.622000	0.67750	2.518000	0.84900	0.655000	0.94253	GCT		0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3		NM_002222		30	106	0	0	0	0.008361	0	30	106		
LMCD1	29995	broad.mit.edu	37	3	8607273	8607273	+	Silent	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:8607273A>C	ENST00000157600.3	+	5	1111	c.879A>C	c.(877-879)gcA>gcC	p.A293A	LMCD1_ENST00000397386.3_Silent_p.A181A|LMCD1_ENST00000454244.1_Silent_p.A220A|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	293	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGGATGGTGCACCCTGGTGCG	0.632																																						uc003bqq.2		NaN																	0				ovary(1)	1						c.(877-879)GCA>GCC		LIM and cysteine-rich domains 1							25.0	24.0	24.0					3																	8607273		2203	4300	6503	SO:0001819	synonymous_variant	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8607273A>C	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.879A>C	3.37:g.8607273A>C						LMCD1_uc011atd.1_Silent_p.A220A|LMCD1_uc011ate.1_Silent_p.A181A	p.A293A	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	5	993	+			293			LIM zinc-binding 1.		B4DG80	Silent	SNP	ENST00000157600.3	37	c.879A>C	CCDS33688.1																																																																																				0.632	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1		NM_014583		7	18	0	0	0	0.008291	0	7	18		
OXTR	5021	broad.mit.edu	37	3	8809375	8809375	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:8809375C>T	ENST00000316793.3	-	3	1123	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	167					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GGCGCGCTGGCCACCAGGCAG	0.716																																						uc003brc.2		NaN																	0					0						c.(499-501)GCC>ACC		oxytocin receptor	Carbetocin(DB01282)						17.0	21.0	20.0					3																	8809375		2196	4294	6490	SO:0001583	missense	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8809375C>T		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.499G>A	3.37:g.8809375C>T	ENSP00000324270:p.Ala167Thr						p.A167T	NM_000916	NP_000907	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	3	1121	-			167			Helical; Name=4; (Potential).		Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	c.499G>A	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132597	0.77662	.	.	ENSG00000180914	ENST00000316793	T	0.72282	-0.64	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.163068	0.53938	D	0.000041	T	0.58609	0.2134	N	0.10916	0.065	0.35809	D	0.823702	B	0.29571	0.249	B	0.38755	0.281	T	0.69522	-0.5123	10	0.87932	D	0	-23.7736	13.257	0.60085	0.0:0.8406:0.1594:0.0	.	167	P30559	OXYR_HUMAN	T	167	ENSP00000324270:A167T	ENSP00000324270:A167T	A	-	1	0	OXTR	8784375	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.602000	0.36783	2.466000	0.83321	0.561000	0.74099	GCC		0.716	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2				21	12	0	0	0	0.012319	0	21	12		
BRPF1	7862	broad.mit.edu	37	3	9785587	9785587	+	Splice_Site	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:9785587T>C	ENST00000457855.1	+	7	2628		c.e7+2		BRPF1_ENST00000424362.1_Splice_Site|BRPF1_ENST00000302054.3_Splice_Site|BRPF1_ENST00000433861.2_Splice_Site|BRPF1_ENST00000383829.2_Splice_Site			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1						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)					CAAGCAAAGGTCTGAATCCCA	0.602																																						uc003bse.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.e8+2		bromodomain and PHD finger-containing protein 1							47.0	31.0	36.0					3																	9785587		2197	4292	6489	SO:0001630	splice_region_variant	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.chr3:9785587T>C	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.2617+2T>C	3.37:g.9785587T>C						BRPF1_uc003bsf.2_Splice_Site_p.G879_splice|BRPF1_uc003bsg.2_Splice_Site_p.G872_splice|BRPF1_uc011ati.1_Splice_Site_p.D873_splice	p.G873_splice	NM_004634	NP_004625	P55201	BRPF1_HUMAN			8	3016	+	Medulloblastoma(99;0.227)							B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Splice_Site	SNP	ENST00000457855.1	37	c.2617_splice	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.115915	0.56505	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BRPF1	9760587	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.505000	0.66981	2.371000	0.80710	0.533000	0.62120	.		0.602	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1		NM_001003694	Intron	15	20	0	0	0	0.003163	0	15	20		
CRELD1	78987	broad.mit.edu	37	3	9976525	9976525	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:9976525G>C	ENST00000383811.3	+	2	780	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CRELD1_ENST00000397170.3_Missense_Mutation_p.E61Q|RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000452070.1_Missense_Mutation_p.E61Q|CRELD1_ENST00000326434.5_Missense_Mutation_p.E61Q	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	61					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CCAGGGCCTGGAGAGAACCAT	0.498																																						uc003bug.2		NaN																	0				ovary(1)	1						c.(181-183)GAG>CAG		cysteine-rich with EGF-like domains 1 isoform 3							47.0	50.0	49.0					3																	9976525		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9976525G>C	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.181G>C	3.37:g.9976525G>C	ENSP00000373322:p.Glu61Gln					CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.E61Q|CRELD1_uc003buh.2_Missense_Mutation_p.E61Q|CRELD1_uc003bui.2_Missense_Mutation_p.E61Q|CRELD1_uc003buj.2_RNA	p.E61Q	NM_001077415	NP_001070883	Q96HD1	CREL1_HUMAN			3	299	+			61			Extracellular (Potential).		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.181G>C	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774257	0.90108	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	4.68	4.68	0.58851	.	0.061301	0.64402	D	0.000006	T	0.61451	0.2348	M	0.79693	2.465	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.80764	0.979;0.994	T	0.65504	-0.6152	9	.	.	.	.	15.0912	0.72195	0.0:0.0:1.0:0.0	.	61;61	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	Q	61	ENSP00000380355:E61Q;ENSP00000373322:E61Q;ENSP00000393643:E61Q;ENSP00000321856:E61Q	.	E	+	1	0	CRELD1	9951525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.320000	0.96346	2.150000	0.67090	0.561000	0.74099	GAG		0.498	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1		NM_015513		7	15	0	0	0	0.001984	0	7	15		
FANCD2	2177	broad.mit.edu	37	3	10106445	10106445	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:10106445G>C	ENST00000419585.1	+	23	2215	c.2054G>C	c.(2053-2055)gGa>gCa	p.G685A	FANCD2_ENST00000383806.1_Missense_Mutation_p.G685A|FANCD2_ENST00000383807.1_Missense_Mutation_p.G685A|FANCD2_ENST00000287647.3_Missense_Mutation_p.G685A			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	685					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCACTGTACGGACTGGAAGAA	0.498			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NaN	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(2053-2055)GGA>GCA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							98.0	104.0	102.0					3																	10106445		2203	4300	6503	SO:0001583	missense	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10106445G>C	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2054G>C	3.37:g.10106445G>C	ENSP00000398754:p.Gly685Ala					FANCD2_uc003bux.1_Missense_Mutation_p.G685A|FANCD2_uc003buy.1_Missense_Mutation_p.G685A|FANCD2_uc010hcw.1_RNA	p.G685A	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	23	2132	+			685					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2054G>C	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005638	0.35415	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.65	3.81	0.43845	.	0.257624	0.42053	N	0.000764	T	0.46405	0.1391	M	0.69823	2.125	0.21020	N	0.999805	P;P	0.44690	0.841;0.841	B;B	0.44108	0.441;0.441	T	0.48210	-0.9055	10	0.54805	T	0.06	.	5.5026	0.16836	0.1606:0.1757:0.6637:0.0	.	685;685	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	A	685	ENSP00000287647:G685A;ENSP00000373318:G685A;ENSP00000373317:G685A;ENSP00000398754:G685A	ENSP00000287647:G685A	G	+	2	0	FANCD2	10081445	1.000000	0.71417	0.913000	0.36048	0.074000	0.17049	3.102000	0.50291	1.517000	0.48917	0.585000	0.79938	GGA		0.498	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1				28	97	0	0	0	0.007291	0	28	97		
FANCD2	2177	broad.mit.edu	37	3	10107147	10107147	+	Missense_Mutation	SNP	C	C	A	rs35817402	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:10107147C>A	ENST00000419585.1	+	24	2399	c.2238C>A	c.(2236-2238)aaC>aaA	p.N746K	FANCD2_ENST00000383806.1_Missense_Mutation_p.N746K|FANCD2_ENST00000383807.1_Missense_Mutation_p.N746K|FANCD2_ENST00000287647.3_Missense_Mutation_p.N746K			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	746					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GACAGCATAACGGAAACTTGG	0.443			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2		NaN	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(2236-2238)AAC>AAA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							177.0	176.0	176.0					3																	10107147		2203	4300	6503	SO:0001583	missense	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10107147C>A	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2238C>A	3.37:g.10107147C>A	ENSP00000398754:p.Asn746Lys					FANCD2_uc003bux.1_Missense_Mutation_p.N746K|FANCD2_uc003buy.1_Missense_Mutation_p.N746K|FANCD2_uc010hcw.1_RNA	p.N746K	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	24	2316	+			746					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2238C>A	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.402817	0.25291	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.56	-3.5	0.04710	.	0.652197	0.16965	N	0.192338	T	0.32675	0.0837	M	0.67953	2.075	0.27395	N	0.955021	B;P	0.37141	0.412;0.584	B;B	0.35727	0.209;0.209	T	0.39231	-0.9624	10	0.10902	T	0.67	.	4.2221	0.10563	0.2359:0.2358:0.0:0.5283	.	746;746	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	K	746	ENSP00000287647:N746K;ENSP00000373318:N746K;ENSP00000373317:N746K;ENSP00000398754:N746K	ENSP00000287647:N746K	N	+	3	2	FANCD2	10082147	0.942000	0.31987	0.709000	0.30452	0.921000	0.55340	-0.047000	0.11963	-0.559000	0.06110	-1.407000	0.01130	AAC		0.443	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1				18	63	1	0	2.35188e-11	0.006122	2.48e-11	18	63		
ATP2B2	491	broad.mit.edu	37	3	10400558	10400558	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:10400558G>A	ENST00000352432.4	-	13	2022	c.1953C>T	c.(1951-1953)cgC>cgT	p.R651R	ATP2B2_ENST00000383800.4_Silent_p.R606R|ATP2B2_ENST00000397077.1_Silent_p.R606R|ATP2B2_ENST00000360273.2_Silent_p.R651R|ATP2B2_ENST00000343816.4_Silent_p.R637R			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	651					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.R606R(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTCCCGGTCGCGGGGCCGGA	0.632																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1951-1953)CGC>CGT		plasma membrane calcium ATPase 2 isoform 1							43.0	43.0	43.0					3																	10400558		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10400558G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1953C>T	3.37:g.10400558G>A						ATP2B2_uc003bvv.2_Silent_p.R606R|ATP2B2_uc003bvw.2_Silent_p.R606R|ATP2B2_uc010hdo.2_Silent_p.R356R	p.R651R	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			14	2392	-			651			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.1953C>T	CCDS33701.1																																																																																				0.632	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2		NM_001683		12	34	0	0	0	0.013537	0	12	34		
WNT7A	7476	broad.mit.edu	37	3	13916528	13916528	+	Missense_Mutation	SNP	C	C	T	rs397514666		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:13916528C>T	ENST00000285018.4	-	2	518	c.214G>A	c.(214-216)Gag>Aag	p.E72K	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	72			E -> K (in LPHAS). {ECO:0000269|PubMed:21271649}.		asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)	p.E72K(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AACTGACACTCGTCCAGGCCC	0.597																																						uc003bye.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(214-216)GAG>AAG		wingless-type MMTV integration site family,							63.0	56.0	58.0					3																	13916528		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13916528C>T	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.214G>A	3.37:g.13916528C>T	ENSP00000285018:p.Glu72Lys						p.E72K	NM_004625	NP_004616	O00755	WNT7A_HUMAN			2	519	-			72		E -> K (in LPHAS).			Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.214G>A	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	c	36	5.962140	0.97151	.	.	ENSG00000154764	ENST00000285018	T	0.80214	-1.35	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.94042	0.8091	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96187	0.9135	10	0.87932	D	0	.	18.9939	0.92804	0.0:1.0:0.0:0.0	.	72	O00755	WNT7A_HUMAN	K	72	ENSP00000285018:E72K	ENSP00000285018:E72K	E	-	1	0	WNT7A	13891529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.739000	0.84976	2.481000	0.83766	0.651000	0.88453	GAG		0.597	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2		NM_004625		18	35	0	0	0	0.00499	0	18	35		
TOP2B	7155	broad.mit.edu	37	3	25639947	25639947	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:25639947C>T	ENST00000264331.4	-	36	4731	c.4732G>A	c.(4732-4734)Gat>Aat	p.D1578N	TOP2B_ENST00000540199.1_Missense_Mutation_p.D430N|TOP2B_ENST00000435706.2_Missense_Mutation_p.D1573N|TOP2B_ENST00000542520.1_Missense_Mutation_p.D430N	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1578					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GAATCCTGATCAAAAGATGTC	0.383																																						uc003cdj.2		NaN																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(4717-4719)GAT>AAT		DNA topoisomerase II, beta isozyme							57.0	56.0	57.0					3																	25639947		1834	4076	5910	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25639947C>T	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4732G>A	3.37:g.25639947C>T	ENSP00000264331:p.Asp1578Asn					TOP2B_uc011awm.1_Missense_Mutation_p.D430N|TOP2B_uc010hff.1_Missense_Mutation_p.D439N	p.D1573N	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			36	4717	-			1578					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.4717G>A		.	.	.	.	.	.	.	.	.	.	C	21.9	4.222120	0.79464	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.55234	0.53;0.73;0.73;0.53	5.98	5.98	0.97165	DTHCT (1);	0.046866	0.85682	D	0.000000	T	0.38026	0.1025	N	0.08118	0	0.80722	D	1	B;B	0.27625	0.183;0.152	B;B	0.27887	0.084;0.05	T	0.31916	-0.9926	10	0.62326	D	0.03	-20.7449	18.6367	0.91380	0.0:1.0:0.0:0.0	.	1578;1573	Q02880;Q02880-2	TOP2B_HUMAN;.	N	430;1573;1578;430	ENSP00000446023:D430N;ENSP00000396704:D1573N;ENSP00000264331:D1578N;ENSP00000437352:D430N	ENSP00000264331:D1578N	D	-	1	0	TOP2B	25614951	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.999000	0.70665	2.847000	0.97988	0.591000	0.81541	GAT		0.383	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding					19	15	0	0	0	0.006122	0	19	15		
ZCWPW2	152098	broad.mit.edu	37	3	28562512	28562512	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:28562512G>A	ENST00000383768.2	+	9	1002	c.814G>A	c.(814-816)Gag>Aag	p.E272K	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.E272K			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	272							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TTTACTAAAAGAGCTGGAGCA	0.368																																						uc003ceh.2		NaN																	0				ovary(2)	2						c.(814-816)GAG>AAG		zinc finger, CW type with PWWP domain 2							92.0	88.0	89.0					3																	28562512		2203	4300	6503	SO:0001583	missense	152098						zinc ion binding	g.chr3:28562512G>A	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.814G>A	3.37:g.28562512G>A	ENSP00000373278:p.Glu272Lys					ZCWPW2_uc003cei.2_Missense_Mutation_p.E272K|ZCWPW2_uc010hfo.2_Missense_Mutation_p.E77K	p.E272K	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN			9	982	+			272						Missense_Mutation	SNP	ENST00000383768.2	37	c.814G>A	CCDS33723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.779133|4.779133	0.90195|0.90195	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000383768;ENST00000421010|ENST00000419130	T;T|.	0.35789|.	1.29;1.29|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.218004|.	0.32244|.	N|.	0.006378|.	T|T	0.51550|0.51550	0.1681|0.1681	L|L	0.32530|0.32530	0.975|0.975	0.34424|0.34424	D|D	0.697812|0.697812	P|.	0.52842|.	0.956|.	P|.	0.50825|.	0.651|.	T|T	0.59542|0.59542	-0.7435|-0.7435	10|5	0.39692|.	T|.	0.17|.	-10.6845|-10.6845	14.9717|14.9717	0.71238|0.71238	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	272|.	Q504Y3|.	ZCPW2_HUMAN|.	K|K	272|156	ENSP00000373278:E272K;ENSP00000412386:E272K|.	ENSP00000373278:E272K|.	E|R	+|+	1|2	0|0	ZCWPW2|ZCWPW2	28537516|28537516	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.945000|0.945000	0.59286|0.59286	5.251000|5.251000	0.65438|0.65438	2.596000|2.596000	0.87737|0.87737	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.368	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1		XM_087384		8	32	0	0	0	0.00308	0	8	32		
DALRD3	55152	broad.mit.edu	37	3	49053759	49053759	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:49053759C>G	ENST00000341949.4	-	9	1167	c.1161G>C	c.(1159-1161)ctG>ctC	p.L387L	DALRD3_ENST00000395462.4_Silent_p.L220L|DALRD3_ENST00000440857.1_Silent_p.L220L|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000441576.2_Silent_p.L387L|DALRD3_ENST00000313778.5_Silent_p.L220L	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	387					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGCTGTCAGCCAGAGCCAGGA	0.547																																						uc003cvk.1		NaN																	0					0						c.(1159-1161)CTG>CTC		DALR anticodon binding domain containing 3							55.0	54.0	54.0					3																	49053759		2203	4300	6503	SO:0001819	synonymous_variant	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49053759C>G	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1161G>C	3.37:g.49053759C>G						DALRD3_uc003cvl.1_Silent_p.L387L|DALRD3_uc003cvm.1_Silent_p.L220L|DALRD3_uc010hko.1_Silent_p.L220L|DALRD3_uc011bca.1_Silent_p.L387L	p.L387L	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1181	-			387					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Silent	SNP	ENST00000341949.4	37	c.1161G>C	CCDS33754.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.245329	0.00271	.	.	ENSG00000178149	ENST00000438585	.	.	.	5.15	-1.35	0.09114	.	.	.	.	.	T	0.19525	0.0469	.	.	.	0.18873	N	0.999982	.	.	.	.	.	.	T	0.22695	-1.0209	4	.	.	.	-4.35	1.2379	0.01957	0.3515:0.3305:0.1143:0.2036	.	.	.	.	R	34	.	.	G	-	1	0	DALRD3	49028763	0.496000	0.26059	0.000000	0.03702	0.002000	0.02628	0.735000	0.26115	-0.697000	0.05092	-1.131000	0.01979	GGC		0.547	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1		NM_018114		3	28	0	0	0	0.004672	0	3	28		
DUSP7	1849	broad.mit.edu	37	3	52089928	52089928	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:52089928G>C	ENST00000495880.1	-	1	638	c.455C>G	c.(454-456)tCc>tGc	p.S152C	DUSP7_ENST00000296483.6_Missense_Mutation_p.S101C			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	152	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|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)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCGAGCACGGAGGCGGGAGC	0.721																																						uc003dct.2		NaN																	0				ovary(1)	1						c.(454-456)TCC>TGC		dual specificity phosphatase 7							6.0	7.0	7.0					3																	52089928		2140	4196	6336	SO:0001583	missense	1849				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	g.chr3:52089928G>C	X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.455C>G	3.37:g.52089928G>C	ENSP00000417183:p.Ser152Cys					DUSP7_uc010hma.2_Missense_Mutation_p.S152C	p.S152C	NM_001947	NP_001938	Q16829	DUS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	534	-			152			Rhodanese.		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	c.455C>G	CCDS33766.2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804118	0.90623	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	T;T;T	0.26660	1.72;1.72;1.72	4.99	4.12	0.48240	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.47544	0.1451	M	0.70842	2.15	0.80722	D	1	D;D	0.69078	0.997;0.995	D;P	0.68039	0.955;0.903	T	0.50816	-0.8783	10	0.87932	D	0	.	12.8026	0.57594	0.08:0.0:0.92:0.0	.	101;152	Q16829-2;Q16829	.;DUS7_HUMAN	C	152;101;85	ENSP00000417183:S152C;ENSP00000296483:S101C;ENSP00000418566:S85C	ENSP00000296483:S101C	S	-	2	0	DUSP7	52064968	1.000000	0.71417	0.872000	0.34217	0.958000	0.62258	7.662000	0.83803	1.116000	0.41820	0.655000	0.94253	TCC		0.721	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1		NM_001947		3	4	0	0	0	0.004672	0	3	4		
PBRM1	55193	broad.mit.edu	37	3	52598157	52598157	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:52598157T>C	ENST00000296302.7	-	23	3785	c.3784A>G	c.(3784-3786)Aat>Gat	p.N1262D	PBRM1_ENST00000337303.4_Missense_Mutation_p.N1262D|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Missense_Mutation_p.N1277D|PBRM1_ENST00000394830.3_Missense_Mutation_p.N1237D|PBRM1_ENST00000410007.1_Missense_Mutation_p.N1237D|PBRM1_ENST00000409114.3_Missense_Mutation_p.N1277D|PBRM1_ENST00000356770.4_Missense_Mutation_p.N1230D|PBRM1_ENST00000409057.1_Missense_Mutation_p.N1262D			Q86U86	PB1_HUMAN	polybromo 1	1262	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCGCTCTCATTGTAGCGGCTC	0.413			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NaN		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(3784-3786)AAT>GAT		polybromo 1 isoform 4							110.0	108.0	108.0					3																	52598157		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52598157T>C	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3784A>G	3.37:g.52598157T>C	ENSP00000296302:p.Asn1262Asp					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.N1262D|PBRM1_uc003der.2_Missense_Mutation_p.N1230D|PBRM1_uc003det.2_Missense_Mutation_p.N1277D|PBRM1_uc003deu.2_Missense_Mutation_p.N1277D|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.N1262D|PBRM1_uc010hmk.1_Missense_Mutation_p.N1237D|PBRM1_uc003dey.2_Missense_Mutation_p.N1237D|PBRM1_uc003dez.1_Missense_Mutation_p.N1261D	p.N1262D	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	23	3796	-			1262			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.3784A>G		.	.	.	.	.	.	.	.	.	.	T	11.90	1.776999	0.31411	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	D;D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.05	5.05	0.67936	Bromo adjacent homology (BAH) domain (3);	0.053625	0.64402	D	0.000001	T	0.73281	0.3567	N	0.11023	0.085	0.51012	D	0.9999	D;D;D;P;D;B;D;P	0.64830	0.994;0.983;0.986;0.886;0.982;0.189;0.962;0.952	P;B;P;B;P;B;P;B	0.50440	0.641;0.352;0.453;0.196;0.641;0.079;0.453;0.352	T	0.71151	-0.4676	10	0.09590	T	0.72	-17.4012	14.818	0.70050	0.0:0.0:0.0:1.0	.	1237;1237;1262;1277;1277;1262;1230;1262	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	D	1230;1237;1262;1262;1262;1237;1277;1277;1261	ENSP00000349213:N1230D;ENSP00000378307:N1237D;ENSP00000296302:N1262D;ENSP00000338302:N1262D;ENSP00000386593:N1262D;ENSP00000386529:N1237D;ENSP00000386643:N1277D;ENSP00000386601:N1277D;ENSP00000387775:N1261D	ENSP00000296302:N1262D	N	-	1	0	PBRM1	52573197	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.139000	0.71728	1.906000	0.55180	0.533000	0.62120	AAT		0.413	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165		34	28	0	0	0	0.010818	0	34	28		
DCP1A	55802	broad.mit.edu	37	3	53346282	53346282	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:53346282C>T	ENST00000607628.1	-	5	608	c.499G>A	c.(499-501)Gag>Aag	p.E167K	DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000294241.6_Missense_Mutation_p.E167K|DCP1A_ENST00000606822.1_Missense_Mutation_p.E167K	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	167					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)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CTCTCATACTCATCCTTGGCT	0.577																																						uc003dgs.3		NaN																	0					0						c.(499-501)GAG>AAG		DCP1 decapping enzyme homolog A							76.0	80.0	79.0					3																	53346282		2018	4178	6196	SO:0001583	missense	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53346282C>T	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.499G>A	3.37:g.53346282C>T	ENSP00000475920:p.Glu167Lys					DCP1A_uc003dgt.3_RNA	p.E167K	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	5	592	-			167					B4DHN9|U3KQM8	Missense_Mutation	SNP	ENST00000607628.1	37	c.499G>A																																																																																					0.577	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_018403		19	24	0	0	0	0.008871	0	19	24		
CACNA2D3	55799	broad.mit.edu	37	3	54925415	54925415	+	Silent	SNP	C	C	T	rs370732556	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:54925415C>T	ENST00000474759.1	+	25	2232	c.2184C>T	c.(2182-2184)ctC>ctT	p.L728L	CACNA2D3_ENST00000288197.5_Silent_p.L728L|CACNA2D3_ENST00000490478.1_Silent_p.L634L|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Silent_p.L728L	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	728						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TTGCCTTCCTCGGCACTCGCA	0.532													C|||	7	0.00139776	0.0	0.0	5008	,	,		13572	0.0		0.0	False		,,,				2504	0.0072					uc003dhf.2		NaN																	0				large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(2182-2184)CTC>CTT		calcium channel, voltage-dependent, alpha							61.0	62.0	62.0					3																	54925415		1877	4094	5971	SO:0001819	synonymous_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54925415C>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2184C>T	3.37:g.54925415C>T						CACNA2D3_uc003dhg.1_Silent_p.L634L|CACNA2D3_uc003dhh.1_RNA|uc003dhk.1_Intron	p.L728L	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	25	2232	+			728			Extracellular (Potential).		B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	c.2184C>T	CCDS54598.1																																																																																				0.532	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1				20	30	0	0	0	0.012319	0	20	30		
CCDC66	285331	broad.mit.edu	37	3	56598036	56598036	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:56598036G>A	ENST00000394672.3	+	4	497	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000326595.7_Missense_Mutation_p.E109K|CCDC66_ENST00000538560.1_Missense_Mutation_p.E143K|CCDC66_ENST00000436465.2_Missense_Mutation_p.E143K	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	143					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CATCACAGCTGAAAACATGAA	0.393																																						uc003dhz.2		NaN																	0				breast(1)	1						c.(427-429)GAA>AAA		coiled-coil domain containing 66 isoform 1							102.0	89.0	94.0					3																	56598036		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56598036G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.427G>A	3.37:g.56598036G>A	ENSP00000378167:p.Glu143Lys					CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Missense_Mutation_p.E109K|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dhv.2_RNA|CCDC66_uc003dhw.2_Missense_Mutation_p.E143K	p.E143K	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	4	514	+			143					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.427G>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681312	0.47991	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465;ENST00000538560	T;T;T;T;T	0.02446	4.29;4.29;4.29;4.29;4.29	5.61	3.55	0.40652	.	0.511281	0.18729	N	0.132796	T	0.05364	0.0142	M	0.74881	2.28	0.09310	N	1	B;B	0.18166	0.026;0.021	B;B	0.23419	0.046;0.021	T	0.26018	-1.0115	10	0.72032	D	0.01	-1.101	7.2193	0.25977	0.1037:0.0:0.7384:0.1579	.	143;143	A2RUB6;A2RUB6-2	CCD66_HUMAN;.	K	143;143;109;143;143	ENSP00000401451:E143K;ENSP00000378167:E143K;ENSP00000326050:E109K;ENSP00000404320:E143K;ENSP00000444919:E143K	ENSP00000326050:E109K	E	+	1	0	CCDC66	56573076	0.997000	0.39634	0.001000	0.08648	0.313000	0.28021	2.243000	0.43115	0.512000	0.28257	0.655000	0.94253	GAA		0.393	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1		NM_001012506		23	29	0	0	0	0.01892	0	23	29		
PDE12	201626	broad.mit.edu	37	3	57542432	57542432	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:57542432C>T	ENST00000311180.8	+	1	429	c.326C>T	c.(325-327)tCa>tTa	p.S109L	PDE12_ENST00000487257.1_Missense_Mutation_p.S109L	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	109					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GCGGCCTGTTCAGGGCCGGGG	0.657																																					Colon(125;308 1634 19198 50622 50717)	uc003diw.3		NaN																	0					0						c.(325-327)TCA>TTA		phosphodiesterase 12							14.0	18.0	17.0					3																	57542432		2196	4290	6486	SO:0001583	missense	201626						hydrolase activity	g.chr3:57542432C>T	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.326C>T	3.37:g.57542432C>T	ENSP00000309142:p.Ser109Leu					PDE12_uc003div.2_Missense_Mutation_p.S109L	p.S109L	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	452	+			109					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.326C>T	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	C	4.800	0.148655	0.09134	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	T;T	0.23754	1.89;1.91	4.47	2.62	0.31277	.	0.682987	0.12772	N	0.440474	T	0.11324	0.0276	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.002;0.013	B;B	0.13407	0.003;0.009	T	0.23404	-1.0189	10	0.28530	T	0.3	-2.1561	4.9222	0.13876	0.2111:0.6801:0.0:0.1088	.	109;109	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	L	109	ENSP00000420626:S109L;ENSP00000309142:S109L	ENSP00000309142:S109L	S	+	2	0	PDE12	57517472	0.569000	0.26643	0.026000	0.17262	0.121000	0.20230	0.000000	0.12993	1.162000	0.42619	0.455000	0.32223	TCA		0.657	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2		NM_177966		20	12	0	0	0	0.008871	0	20	12		
PXK	54899	broad.mit.edu	37	3	58368279	58368279	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:58368279G>C	ENST00000356151.2	+	4	349	c.240G>C	c.(238-240)ttG>ttC	p.L80F	PXK_ENST00000479241.1_Missense_Mutation_p.L63F|PXK_ENST00000484288.1_Missense_Mutation_p.L80F|PXK_ENST00000536660.1_Intron|PXK_ENST00000302779.5_Missense_Mutation_p.L63F|PXK_ENST00000383715.4_Missense_Mutation_p.L63F|PXK_ENST00000383716.3_Missense_Mutation_p.L47F|PXK_ENST00000463280.1_Missense_Mutation_p.L47F	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CCAAAAAATTGATTGGTAACA	0.343																																						uc003djz.1		NaN																	0				ovary(1)	1						c.(238-240)TTG>TTC		PX domain containing serine/threonine kinase							97.0	93.0	94.0					3																	58368279		2203	4300	6503	SO:0001583	missense	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58368279G>C	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.240G>C	3.37:g.58368279G>C	ENSP00000348472:p.Leu80Phe					PXK_uc003djx.1_Missense_Mutation_p.L80F|PXK_uc003djy.1_Missense_Mutation_p.L63F|PXK_uc003dka.1_Missense_Mutation_p.L80F|PXK_uc003dkb.1_5'UTR|PXK_uc003dkc.1_Missense_Mutation_p.L63F|PXK_uc011bfe.1_Missense_Mutation_p.L47F|PXK_uc010hnj.1_Missense_Mutation_p.L47F|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_5'UTR	p.L80F	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	4	339	+			80			PX.			Missense_Mutation	SNP	ENST00000356151.2	37	c.240G>C	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173101	0.78452	.	.	ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000491164	T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.76	5.76	0.90799	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	L	0.49571	1.57	0.80722	D	1	D;P;P;D;D;D	0.76494	0.998;0.831;0.677;0.999;0.998;0.998	D;P;B;D;D;D	0.72625	0.977;0.568;0.223;0.978;0.962;0.944	T	0.37314	-0.9711	10	0.23891	T	0.37	-8.9219	19.9857	0.97347	0.0:0.0:1.0:0.0	.	47;47;47;80;63;80	E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.;.;.;PXK_HUMAN;.;.	F	80;63;47;47;63;80;63;71	ENSP00000348472:L80F;ENSP00000305045:L63F;ENSP00000373222:L47F;ENSP00000417903:L47F;ENSP00000373221:L63F;ENSP00000417915:L80F;ENSP00000419049:L63F;ENSP00000418831:L71F	ENSP00000305045:L63F	L	+	3	2	PXK	58343319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.207000	0.58480	2.706000	0.92434	0.655000	0.94253	TTG		0.343	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1		NM_017771		6	48	0	0	0	0.004482	0	6	48		
GXYLT2	727936	broad.mit.edu	37	3	72957678	72957678	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:72957678G>A	ENST00000389617.4	+	2	597	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	146					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						CATCTTCACTGAAGACTCTCT	0.463																																						uc003dpg.2		NaN																	0					0						c.(436-438)GAA>AAA		glycosyltransferase 8 domain containing 4							72.0	74.0	73.0					3																	72957678		1949	4149	6098	SO:0001583	missense	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:72957678G>A	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.436G>A	3.37:g.72957678G>A	ENSP00000374268:p.Glu146Lys						p.E146K	NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN			2	436	+			146			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000389617.4	37	c.436G>A	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301519	0.81136	.	.	ENSG00000172986	ENST00000389617;ENST00000498315	T	0.42900	0.96	5.71	4.82	0.62117	.	0.113405	0.64402	D	0.000010	T	0.69958	0.3169	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77064	-0.2726	10	0.62326	D	0.03	.	16.0142	0.80425	0.0:0.0:0.8644:0.1356	.	146	A0PJZ3	GXLT2_HUMAN	K	146;20	ENSP00000374268:E146K	ENSP00000374268:E146K	E	+	1	0	GXYLT2	73040368	1.000000	0.71417	0.061000	0.19648	0.934000	0.57294	9.643000	0.98464	1.392000	0.46585	0.655000	0.94253	GAA		0.463	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1		NM_001080393		29	29	0	0	0	0.012213	0	29	29		
HTR1F	3355	broad.mit.edu	37	3	88040157	88040157	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:88040157A>G	ENST00000319595.4	+	1	312	c.258A>G	c.(256-258)agA>agG	p.R86R		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	86					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATATTGTGAGAGAGAGCTGGA	0.468																																						uc003dqr.2		NaN																	0				ovary(3)	3						c.(256-258)AGA>AGG		5-hydroxytryptamine (serotonin) receptor 1F	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						98.0	87.0	91.0					3																	88040157		2203	4300	6503	SO:0001819	synonymous_variant	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040157A>G	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.258A>G	3.37:g.88040157A>G							p.R86R	NM_000866	NP_000857	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	2	416	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	86			Extracellular (By similarity).			Silent	SNP	ENST00000319595.4	37	c.258A>G	CCDS2920.1																																																																																				0.468	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1		NM_000866		5	79	0	0	0	0.014758	0	5	79		
OR5H15	403274	broad.mit.edu	37	3	97887646	97887646	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:97887646T>G	ENST00000356526.2	+	1	103	c.103T>G	c.(103-105)Tat>Gat	p.Y35D		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CTTGGTAATATATCTCATCAC	0.408																																						uc011bgu.1		NaN																	0				ovary(1)|skin(1)	2						c.(103-105)TAT>GAT		olfactory receptor, family 5, subfamily H,							191.0	190.0	190.0					3																	97887646		2203	4298	6501	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887646T>G		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.103T>G	3.37:g.97887646T>G	ENSP00000373195:p.Tyr35Asp						p.Y35D	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	103	+			35			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000356526.2	37	c.103T>G	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	16.82	3.227756	0.58668	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.04654	3.58	2.48	2.48	0.30137	.	0.000000	0.38959	N	0.001509	T	0.32675	0.0837	H	0.99090	4.425	0.30134	N	0.804566	D	0.71674	0.998	D	0.71184	0.972	T	0.50550	-0.8815	10	0.87932	D	0	.	8.4982	0.33141	0.0:0.0:0.0:1.0	.	35	A6NDH6	O5H15_HUMAN	D	35	ENSP00000373195:Y35D	ENSP00000373195:Y35D	Y	+	1	0	OR5H15	99370336	1.000000	0.71417	0.087000	0.20705	0.354000	0.29330	6.623000	0.74238	1.138000	0.42230	0.155000	0.16302	TAT		0.408	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1				135	141	0	0	0	0.01441	0	135	141		
DRD3	1814	broad.mit.edu	37	3	113847578	113847578	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:113847578C>G	ENST00000460779.1	-	8	1477	c.1188G>C	c.(1186-1188)aaG>aaC	p.K396N	DRD3_ENST00000383673.2_Missense_Mutation_p.K396N|DRD3_ENST00000295881.7_Missense_Mutation_p.K363N|DRD3_ENST00000467632.1_Missense_Mutation_p.K396N	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	396				K -> L (in Ref. 7; AAH95510). {ECO:0000305}.	acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.K396N(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AAGACAGGATCTTGAGGAAGG	0.527																																						uc003ebd.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1186-1188)AAG>AAC		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						332.0	327.0	328.0					3																	113847578		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113847578C>G		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.1188G>C	3.37:g.113847578C>G	ENSP00000419402:p.Lys396Asn					DRD3_uc010hqn.1_Missense_Mutation_p.K396N|DRD3_uc003ebb.1_Missense_Mutation_p.K363N|DRD3_uc003ebc.1_Missense_Mutation_p.K396N	p.K396N	NM_000796	NP_000787	P35462	DRD3_HUMAN			8	1611	-			396	K -> L (in Ref. 7; AAH95510).		Cytoplasmic.		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.1188G>C	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142359	0.77888	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000295881	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.55	4.6	0.57074	.	0.116424	0.56097	D	0.000034	T	0.48205	0.1487	M	0.64630	1.985	0.50467	D	0.999871	P;P;P;B	0.46621	0.881;0.753;0.753;0.382	P;P;P;B	0.49332	0.607;0.53;0.607;0.168	T	0.44697	-0.9311	10	0.52906	T	0.07	.	11.1397	0.48396	0.0:0.8526:0.0:0.1474	.	396;396;396;363	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	N	396;396;396;363	ENSP00000419402:K396N;ENSP00000420662:K396N;ENSP00000373169:K396N;ENSP00000295881:K363N	ENSP00000295881:K363N	K	-	3	2	DRD3	115330268	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.151000	0.50670	2.890000	0.99128	0.585000	0.79938	AAG		0.527	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1		NM_000796.3		95	169	0	0	0	0.01441	0	95	169		
CASR	846	broad.mit.edu	37	3	122003997	122003997	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:122003997G>C	ENST00000490131.1	+	7	3568	c.3196G>C	c.(3196-3198)Ggt>Cgt	p.G1066R	CASR_ENST00000296154.5_Missense_Mutation_p.G1066R|CASR_ENST00000498619.1_Missense_Mutation_p.G1076R	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	1066					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGTCATCAGTGGTGGAGGCAG	0.532																																						uc003eev.3		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(3196-3198)GGT>CGT		calcium-sensing receptor precursor	Cinacalcet(DB01012)						88.0	86.0	87.0					3																	122003997		2198	4284	6482	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003997G>C	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.3196G>C	3.37:g.122003997G>C	ENSP00000418685:p.Gly1066Arg					CASR_uc003eew.3_Missense_Mutation_p.G1076R	p.G1066R	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3568	+			1066			Cytoplasmic (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.3196G>C	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.783964	0.31593	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.91011	-2.76;-2.77;-2.76	5.48	2.73	0.32206	.	0.182769	0.39146	N	0.001453	D	0.84338	0.5450	L	0.27053	0.805	0.19775	N	0.999957	B;B	0.26512	0.151;0.0	B;B	0.33454	0.164;0.001	T	0.76011	-0.3115	10	0.72032	D	0.01	.	8.9018	0.35499	0.2329:0.0:0.7671:0.0	.	1076;1066	E7ENE0;P41180	.;CASR_HUMAN	R	1066;1076;1066	ENSP00000418685:G1066R;ENSP00000420194:G1076R;ENSP00000296154:G1066R	ENSP00000296154:G1066R	G	+	1	0	CASR	123486687	0.907000	0.30839	0.016000	0.15963	0.760000	0.43138	2.002000	0.40835	0.376000	0.24707	0.555000	0.69702	GGT		0.532	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1		NM_000388		23	51	0	0	0	0.016522	0	23	51		
DNAJC13	23317	broad.mit.edu	37	3	132169586	132169586	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:132169586C>G	ENST00000260818.6	+	6	680	c.432C>G	c.(430-432)acC>acG	p.T144T	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	144					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATCCTGCAACCAACAGAGTAC	0.358																																						uc003eor.2		NaN																	0				ovary(1)|breast(1)	2						c.(430-432)ACC>ACG		DnaJ (Hsp40) homolog, subfamily C, member 13							60.0	63.0	62.0					3																	132169586		2203	4299	6502	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132169586C>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.432C>G	3.37:g.132169586C>G						DNAJC13_uc010htq.1_Silent_p.T144T	p.T144T	NM_015268	NP_056083	O75165	DJC13_HUMAN			6	497	+			144					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.432C>G	CCDS33857.1																																																																																				0.358	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2		NM_015268		21	32	0	0	0	0.012319	0	21	32		
SMC4	10051	broad.mit.edu	37	3	160137191	160137191	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:160137191A>G	ENST00000357388.3	+	12	2168	c.1717A>G	c.(1717-1719)Aaa>Gaa	p.K573E	SMC4_ENST00000462787.1_Missense_Mutation_p.K573E|SMC4_ENST00000469762.1_Missense_Mutation_p.K548E|SMC4_ENST00000344722.5_Missense_Mutation_p.K573E|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.K573E	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	573					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACAAACTTTAAAAGTTTGGT	0.308																																						uc003fdh.2		NaN																	0				ovary(1)|breast(1)	2						c.(1717-1719)AAA>GAA		SMC4 structural maintenance of chromosomes							36.0	39.0	38.0					3																	160137191		2198	4294	6492	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160137191A>G	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1717A>G	3.37:g.160137191A>G	ENSP00000349961:p.Lys573Glu					IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.K337E|SMC4_uc003fdi.2_Missense_Mutation_p.K548E|SMC4_uc003fdj.2_Missense_Mutation_p.K573E|SMC4_uc010hwd.2_Missense_Mutation_p.K573E|SMC4_uc003fdl.2_Missense_Mutation_p.K276E	p.K573E	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		12	1830	+			573			Potential.		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.1717A>G	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.366633	0.24771	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.85	4.5	0.54988	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.245643	0.46758	D	0.000280	T	0.56514	0.1990	N	0.15975	0.35	0.26571	N	0.97355	B;B;B;B	0.11235	0.003;0.001;0.003;0.004	B;B;B;B	0.14023	0.004;0.008;0.007;0.01	T	0.36817	-0.9732	10	0.07813	T	0.8	-34.3032	9.5112	0.39078	0.8037:0.1233:0.073:0.0	.	573;548;548;573	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	E	573;573;548;573;573;167	ENSP00000349961:K573E;ENSP00000353225:K573E;ENSP00000417964:K548E;ENSP00000420734:K573E;ENSP00000341382:K573E	ENSP00000341382:K573E	K	+	1	0	SMC4	161619885	0.996000	0.38824	0.943000	0.38184	0.980000	0.70556	3.128000	0.50492	2.235000	0.73313	0.460000	0.39030	AAA		0.308	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1				23	55	0	0	0	0.014323	0	23	55		
TRA2B	6434	broad.mit.edu	37	3	185638917	185638917	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:185638917G>A	ENST00000453386.2	-	6	972	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	TRA2B_ENST00000382191.4_Missense_Mutation_p.R133W	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	233	Arg/Ser-rich (RS2 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TAGTAGTCCCGATCATCATAG	0.428																																						uc003fpv.2		NaN																	0				ovary(2)	2						c.(697-699)CGG>TGG		splicing factor, arginine/serine-rich 10							138.0	125.0	129.0					3																	185638917		2203	4300	6503	SO:0001583	missense	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185638917G>A	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.697C>T	3.37:g.185638917G>A	ENSP00000416959:p.Arg233Trp					TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.R133W|TRA2B_uc003fpw.2_Missense_Mutation_p.R233W	p.R233W	NM_004593	NP_004584	P62995	TRA2B_HUMAN			6	973	-			233			Arg/Ser-rich (RS2 domain).		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	c.697C>T	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584825	0.65992	.	.	ENSG00000136527	ENST00000453386;ENST00000382191	T;T	0.25579	1.79;1.82	6.07	5.21	0.72293	.	0.112723	0.64402	D	0.000006	T	0.17408	0.0418	L	0.39898	1.24	0.80722	D	1	B;D	0.55605	0.0;0.972	B;B	0.28465	0.0;0.09	T	0.04607	-1.0939	10	0.66056	D	0.02	0.032	14.4009	0.67044	0.0715:0.0:0.9285:0.0	.	233;233	B2RDQ3;P62995	.;TRA2B_HUMAN	W	233;133	ENSP00000416959:R233W;ENSP00000371626:R133W	ENSP00000371626:R133W	R	-	1	2	TRA2B	187121611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.973000	0.63763	1.587000	0.49959	0.655000	0.94253	CGG		0.428	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1		NM_004593		53	39	0	0	0	0.01441	0	53	39		
TMEM44	93109	broad.mit.edu	37	3	194344402	194344402	+	Missense_Mutation	SNP	C	C	G	rs143204807		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:194344402C>G	ENST00000392432.2	-	4	586	c.381G>C	c.(379-381)aaG>aaC	p.K127N	TMEM44_ENST00000381975.3_Missense_Mutation_p.K127N|TMEM44_ENST00000347147.4_Missense_Mutation_p.K127N|TMEM44_ENST00000273580.7_Missense_Mutation_p.K127N|TMEM44_ENST00000330115.3_Missense_Mutation_p.K24N|TMEM44_ENST00000473092.1_Missense_Mutation_p.K127N	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	127						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		GCCGCCTCCTCTTCCTCTCTC	0.617																																						uc010hzn.2		NaN																	0					0						c.(379-381)AAG>AAC		transmembrane protein 44 isoform b							31.0	35.0	34.0					3																	194344402		2200	4298	6498	SO:0001583	missense	93109					integral to membrane		g.chr3:194344402C>G	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.381G>C	3.37:g.194344402C>G	ENSP00000376227:p.Lys127Asn					TMEM44_uc003fue.2_Missense_Mutation_p.K127N|TMEM44_uc003fud.2_Missense_Mutation_p.K127N|TMEM44_uc003fuf.2_Missense_Mutation_p.K127N|TMEM44_uc011bsv.1_Missense_Mutation_p.K127N|TMEM44_uc003fuh.1_RNA	p.K127N	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)	4	550	-	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		127			Cytoplasmic (Potential).		A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Missense_Mutation	SNP	ENST00000392432.2	37	c.381G>C	CCDS54699.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680676	0.47886	.	.	ENSG00000145014	ENST00000392432;ENST00000273580;ENST00000347147;ENST00000381975;ENST00000473092;ENST00000452358;ENST00000330115	T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.46	3.63	0.41609	.	0.305922	0.27966	N	0.017140	T	0.37293	0.0998	L	0.56769	1.78	0.32037	N	0.598774	P;D;P;P;P	0.56521	0.904;0.976;0.815;0.815;0.904	P;P;P;P;P	0.48227	0.571;0.544;0.571;0.571;0.474	T	0.47923	-0.9079	10	0.33940	T	0.23	-17.2419	8.0652	0.30657	0.0:0.8045:0.0:0.1955	.	127;127;127;127;127	E9PGA9;Q2T9K0;Q2T9K0-4;Q2T9K0-2;Q2T9K0-6	.;TMM44_HUMAN;.;.;.	N	127;127;127;127;127;26;24	ENSP00000376227:K127N;ENSP00000273580:K127N;ENSP00000333355:K127N;ENSP00000371402:K127N;ENSP00000418674:K127N;ENSP00000414333:K26N;ENSP00000328300:K24N	ENSP00000273580:K127N	K	-	3	2	TMEM44	195825691	0.024000	0.19004	1.000000	0.80357	0.240000	0.25518	0.558000	0.23469	1.263000	0.44181	0.591000	0.81541	AAG		0.617	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1		NM_138399		10	39	0	0	0	0.006214	0	10	39		
MUC4	4585	broad.mit.edu	37	3	195517279	195517279	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr3:195517279G>A	ENST00000463781.3	-	2	1631	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L	MUC4_ENST00000475231.1_Missense_Mutation_p.S391L|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	396					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAACACCTTTGATGTTACCAG	0.453																																						uc011bto.1		NaN																	0					0						c.(1171-1173)TCA>TTA		mucin 4 isoform a							185.0	169.0	174.0					3																	195517279		1934	4143	6077	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517279G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1172C>T	3.37:g.195517279G>A	ENSP00000417498:p.Ser391Leu					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.S273L	p.S391L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	1632	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	396					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.1172C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	4.709	0.131837	0.08981	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.47869	0.83;0.84	2.44	0.556	0.17253	.	3.113120	0.01509	N	0.017823	T	0.41328	0.1154	L	0.46157	1.445	0.09310	N	1	B;B	0.25007	0.116;0.116	B;B	0.27500	0.08;0.033	T	0.12502	-1.0545	10	0.33940	T	0.23	.	3.7116	0.08421	0.1548:0.2584:0.5869:0.0	.	391;396	E7ESK3;Q99102	.;MUC4_HUMAN	L	391;391;365	ENSP00000417498:S391L;ENSP00000420243:S391L	ENSP00000376209:S365L	S	-	2	0	MUC4	197001674	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.088000	0.14979	0.142000	0.18901	0.274000	0.19336	TCA		0.453	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406		104	86	0	0	0	0.01441	0	104	86		
TACC3	10460	broad.mit.edu	37	4	1739043	1739043	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:1739043A>G	ENST00000313288.4	+	9	1930	c.1824A>G	c.(1822-1824)gcA>gcG	p.A608A		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	608					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TCTTGGGAGCACTGGACATTC	0.527																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1822-1824)GCA>GCG		transforming, acidic coiled-coil containing							158.0	127.0	138.0					4																	1739043		2203	4300	6503	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1739043A>G	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1824A>G	4.37:g.1739043A>G						TACC3_uc010ibz.2_Silent_p.A608A|TACC3_uc003gdp.2_Silent_p.A248A|TACC3_uc010ica.2_Silent_p.A25A	p.A608A	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		9	1932	+		Breast(71;0.212)|all_epithelial(65;0.241)	608					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.1824A>G	CCDS3352.1																																																																																				0.527	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2				7	24	0	0	0	0.00308	0	7	24		
HTT	3064	broad.mit.edu	37	4	3182340	3182340	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:3182340G>T	ENST00000355072.5	+	36	4856	c.4711G>T	c.(4711-4713)Gtg>Ttg	p.V1571L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1571					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAAAGAGGTGGTGGTGTCAAT	0.453																																						uc011bvq.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(4717-4719)GTG>TTG		huntingtin							119.0	121.0	120.0					4																	3182340		1977	4152	6129	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3182340G>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4711G>T	4.37:g.3182340G>T	ENSP00000347184:p.Val1571Leu						p.V1573L	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	37	4862	+		all_epithelial(65;0.18)	1571					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.4717G>T	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390843	0.62066	.	.	ENSG00000197386	ENST00000355072	T	0.04970	3.52	5.85	5.85	0.93711	.	0.063358	0.64402	D	0.000006	T	0.11281	0.0275	L	0.57536	1.79	0.80722	D	1	B	0.32245	0.361	B	0.34452	0.183	T	0.11941	-1.0567	10	0.25751	T	0.34	.	20.1577	0.98120	0.0:0.0:1.0:0.0	.	1571	P42858	HD_HUMAN	L	1571	ENSP00000347184:V1571L	ENSP00000347184:V1571L	V	+	1	0	HTT	3152138	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	9.858000	0.99539	2.767000	0.95098	0.655000	0.94253	GTG		0.453	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2		NM_002111		35	34	1	0	1.61788e-16	0.012213	1.71939e-16	35	34		
ZBTB49	166793	broad.mit.edu	37	4	4301680	4301680	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:4301680C>T	ENST00000337872.4	+	2	129	c.8C>T	c.(7-9)cCt>cTt	p.P3L	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.P3L	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	3					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						AGCATGGACCCTGTTGCTACC	0.468																																						uc003ghu.2		NaN																	0				ovary(1)|skin(1)	2						c.(7-9)CCT>CTT		zinc finger protein 509							153.0	142.0	145.0					4																	4301680		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4301680C>T	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.8C>T	4.37:g.4301680C>T	ENSP00000338807:p.Pro3Leu					ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank	p.P3L	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN			2	183	+			3					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.8C>T	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026628	0.54683	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000502918	T;T;T	0.74421	2.49;2.85;-0.84	5.44	5.44	0.79542	.	0.122631	0.37261	N	0.002178	T	0.61123	0.2322	N	0.25332	0.735	0.80722	D	1	P	0.36222	0.544	B	0.30251	0.113	T	0.66941	-0.5796	10	0.72032	D	0.01	.	14.136	0.65289	0.1501:0.8499:0.0:0.0	.	3	Q6ZSB9	ZBT49_HUMAN	L	3	ENSP00000348091:P3L;ENSP00000338807:P3L;ENSP00000425747:P3L	ENSP00000338807:P3L	P	+	2	0	ZBTB49	4352581	0.840000	0.29493	0.958000	0.39756	0.797000	0.45037	3.320000	0.51991	2.564000	0.86499	0.462000	0.41574	CCT		0.468	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3		NM_145291		43	55	0	0	0	0.009718	0	43	55		
TBC1D14	57533	broad.mit.edu	37	4	6969151	6969151	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:6969151G>A	ENST00000409757.4	+	3	967	c.843G>A	c.(841-843)aaG>aaA	p.K281K	TBC1D14_ENST00000448507.1_Splice_Site_p.K281K|TBC1D14_ENST00000410031.1_Splice_Site_p.K53K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	281					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)	p.K281N(1)|p.K266N(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GAATACAGAAGGTACACAAGA	0.393																																						uc011bwg.1		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(841-843)AAG>AAA		TBC1 domain family, member 14 isoform a							79.0	78.0	78.0					4																	6969151		2203	4300	6503	SO:0001630	splice_region_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:6969151G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.843+1G>A	4.37:g.6969151G>A						TBC1D14_uc003gjs.3_Silent_p.K281K	p.K281K	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN			3	922	+			281					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	c.843G>A	CCDS3394.2																																																																																				0.393	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3		NM_020773	Silent	21	58	0	0	0	0.016522	0	21	58		
TAPT1	202018	broad.mit.edu	37	4	16164972	16164972	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:16164972C>G	ENST00000405303.2	-	14	1746	c.1663G>C	c.(1663-1665)Gag>Cag	p.E555Q	TAPT1_ENST00000304584.8_3'UTR|TAPT1_ENST00000399920.3_Missense_Mutation_p.E444Q	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	555					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						CTGTCTATCTCTAACAAATCT	0.433																																						uc010ied.1		NaN																	0					0						c.(1663-1665)GAG>CAG		transmembrane anterior posterior transformation							183.0	179.0	180.0					4																	16164972		1878	4117	5995	SO:0001583	missense	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16164972C>G	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1663G>C	4.37:g.16164972C>G	ENSP00000385347:p.Glu555Gln					TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Missense_Mutation_p.E444Q	p.E555Q	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN			14	1744	-			555					Q8N2S3|Q9NZK9	Missense_Mutation	SNP	ENST00000405303.2	37	c.1663G>C	CCDS47030.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947664	0.92593	.	.	ENSG00000169762	ENST00000405303;ENST00000399920	T;T	0.37584	1.19;1.28	5.94	5.94	0.96194	.	.	.	.	.	T	0.35335	0.0928	L	0.27053	0.805	0.80722	D	1	P	0.50443	0.935	P	0.45829	0.494	T	0.02539	-1.1144	9	0.37606	T	0.19	-17.0326	20.3594	0.98849	0.0:1.0:0.0:0.0	.	555	Q6NXT6	TAPT1_HUMAN	Q	555;444	ENSP00000385347:E555Q;ENSP00000382803:E444Q	ENSP00000382803:E444Q	E	-	1	0	TAPT1	15774070	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.205000	0.77881	2.816000	0.96949	0.563000	0.77884	GAG		0.433	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1		NM_153365		22	72	0	0	0	0.012319	0	22	72		
TAPT1	202018	broad.mit.edu	37	4	16175863	16175863	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:16175863C>G	ENST00000405303.2	-	11	1283	c.1200G>C	c.(1198-1200)cgG>cgC	p.R400R	TAPT1_ENST00000304584.8_Silent_p.R181R|TAPT1_ENST00000399920.3_Silent_p.R289R	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	400					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						AGCCCATCCTCCGTGCTACAG	0.328																																						uc010ied.1		NaN																	0					0						c.(1198-1200)CGG>CGC		transmembrane anterior posterior transformation							51.0	50.0	50.0					4																	16175863		1865	4092	5957	SO:0001819	synonymous_variant	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16175863C>G	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1200G>C	4.37:g.16175863C>G						TAPT1_uc011bxd.1_RNA|TAPT1_uc011bxe.1_Silent_p.R289R	p.R400R	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN			11	1281	-			400					Q8N2S3|Q9NZK9	Silent	SNP	ENST00000405303.2	37	c.1200G>C	CCDS47030.1																																																																																				0.328	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1		NM_153365		5	4	0	0	0	0.014758	0	5	4		
ANAPC4	29945	broad.mit.edu	37	4	25384988	25384988	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:25384988A>G	ENST00000315368.3	+	4	483	c.341A>G	c.(340-342)cAt>cGt	p.H114R	ANAPC4_ENST00000510092.1_Missense_Mutation_p.H114R	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	114					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TCCTGTATGCATTGGATGGAA	0.363																																						uc003gro.2		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(340-342)CAT>CGT		anaphase-promoting complex subunit 4							102.0	100.0	101.0					4																	25384988		2203	4300	6503	SO:0001583	missense	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25384988A>G	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.341A>G	4.37:g.25384988A>G	ENSP00000318775:p.His114Arg					ANAPC4_uc003grp.2_5'UTR	p.H114R	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN			4	470	+		Breast(46;0.0503)	114					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	c.341A>G	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.124459	0.37533	.	.	ENSG00000053900	ENST00000315368;ENST00000510092;ENST00000505991	T;T;T	0.27557	1.66;1.66;1.66	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.044597	0.85682	D	0.000000	T	0.22399	0.0540	L	0.28274	0.84	0.58432	D	0.999998	B	0.26318	0.146	B	0.22152	0.038	T	0.06197	-1.0840	10	0.15499	T	0.54	-28.6485	15.9279	0.79635	1.0:0.0:0.0:0.0	.	114	Q9UJX5	APC4_HUMAN	R	114	ENSP00000318775:H114R;ENSP00000426654:H114R;ENSP00000421840:H114R	ENSP00000318775:H114R	H	+	2	0	ANAPC4	24994086	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.857000	0.75455	2.165000	0.68154	0.482000	0.46254	CAT		0.363	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1		NM_013367		18	55	0	0	0	0.008871	0	18	55		
KLB	152831	broad.mit.edu	37	4	39448239	39448239	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:39448239G>A	ENST00000257408.4	+	4	1990	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	631	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GTGAGGGGCTGAAGCTTGGCA	0.627																																						uc003gua.2		NaN																	0				skin(1)	1						c.(1891-1893)CTG>CTA		klotho beta							102.0	96.0	98.0					4																	39448239		2203	4300	6503	SO:0001819	synonymous_variant	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39448239G>A	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1893G>A	4.37:g.39448239G>A						KLB_uc011byj.1_Silent_p.L622L	p.L631L	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			4	1990	+			631			Extracellular (Potential).|Glycosyl hydrolase-1 2.		Q2M3K8	Silent	SNP	ENST00000257408.4	37	c.1893G>A	CCDS3451.1																																																																																				0.627	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1		NM_175737		20	61	0	0	0	0.007413	0	20	61		
N4BP2	55728	broad.mit.edu	37	4	40123217	40123217	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:40123217T>C	ENST00000261435.6	+	9	3902	c.3486T>C	c.(3484-3486)atT>atC	p.I1162I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1162					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGAAAGAAATTATTAGCCAAA	0.378																																						uc003guy.3		NaN																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(3484-3486)ATT>ATC		Nedd4 binding protein 2							62.0	69.0	67.0					4																	40123217		2202	4300	6502	SO:0001819	synonymous_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40123217T>C	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3486T>C	4.37:g.40123217T>C						N4BP2_uc010ifq.2_Silent_p.I1082I|N4BP2_uc010ifr.2_Silent_p.I1082I	p.I1162I	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	3824	+			1162					A0AVR3|Q9NVK2|Q9P2D4	Silent	SNP	ENST00000261435.6	37	c.3486T>C	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	T	0.034	-1.315093	0.01331	.	.	ENSG00000078177	ENST00000513269	.	.	.	5.86	0.573	0.17363	.	.	.	.	.	T	0.20780	0.0500	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.21861	-1.0233	4	.	.	.	-6.5892	1.623	0.02717	0.1265:0.1995:0.132:0.5419	.	.	.	.	H	809	.	.	Y	+	1	0	N4BP2	39799612	0.995000	0.38212	0.979000	0.43373	0.201000	0.24016	0.197000	0.17197	0.099000	0.17552	-0.460000	0.05396	TAT		0.378	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2		NM_018177		30	73	0	0	0	0.00632	0	30	73		
YTHDC1	91746	broad.mit.edu	37	4	69182123	69182123	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:69182123T>C	ENST00000344157.4	-	16	2203	c.1868A>G	c.(1867-1869)tAt>tGt	p.Y623C	YTHDC1_ENST00000355665.3_Missense_Mutation_p.Y605C|YTHDC1_ENST00000579690.1_Missense_Mutation_p.Y631C	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	623	Pro-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ATGGTGCTGATAGTAAGGATG	0.448																																						uc003hdx.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1867-1869)TAT>TGT		splicing factor YT521-B isoform 1							348.0	293.0	311.0					4																	69182123		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69182123T>C	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1868A>G	4.37:g.69182123T>C	ENSP00000339245:p.Tyr623Cys					YTHDC1_uc003hdy.2_Missense_Mutation_p.Y605C	p.Y623C	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN			16	2221	-			623			Pro-rich.		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.1868A>G	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.680387	0.68042	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.27402	1.67;1.67	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.984	T	0.42949	-0.9421	10	0.72032	D	0.01	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	605;623	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	C	623;605	ENSP00000339245:Y623C;ENSP00000347888:Y605C	ENSP00000339245:Y623C	Y	-	2	0	YTHDC1	68864718	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	6.596000	0.74113	2.326000	0.78906	0.533000	0.62120	TAT		0.448	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1		NM_133370		68	72	0	0	0	0.01441	0	68	72		
ANKRD17	26057	broad.mit.edu	37	4	74124115	74124115	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:74124115C>G	ENST00000358602.4	-	1	387	c.271G>C	c.(271-273)Gac>Cac	p.D91H	ANKRD17_ENST00000330838.6_Missense_Mutation_p.D91H|RP11-692D12.1_ENST00000502790.1_RNA	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	91					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ttgtcgctgtcgctgctgcTT	0.672																																						uc003hgp.2		NaN																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(271-273)GAC>CAC		ankyrin repeat domain protein 17 isoform a							32.0	33.0	33.0					4																	74124115		2202	4300	6502	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74124115C>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.271G>C	4.37:g.74124115C>G	ENSP00000351416:p.Asp91His					ANKRD17_uc003hgq.2_Missense_Mutation_p.D91H|ANKRD17_uc003hgr.2_Missense_Mutation_p.D91H	p.D91H	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	388	-	Breast(15;0.000295)		91					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.271G>C	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085206	0.55861	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000411811	T;T	0.66815	-0.19;-0.23	3.91	3.91	0.45181	.	0.000000	0.35407	U	0.003237	T	0.46132	0.1377	N	0.08118	0	0.30048	N	0.812049	D;D;P	0.53312	0.959;0.959;0.931	B;B;B	0.42422	0.3;0.387;0.157	T	0.54357	-0.8306	10	0.59425	D	0.04	.	11.5887	0.50933	0.0:1.0:0.0:0.0	.	91;91;91	O75179-2;G5E964;O75179	.;.;ANR17_HUMAN	H	91	ENSP00000351416:D91H;ENSP00000332265:D91H	ENSP00000332265:D91H	D	-	1	0	ANKRD17	74342979	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.097000	0.50251	2.153000	0.67306	0.491000	0.48974	GAC		0.672	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1		NM_032217		14	37	0	0	0	0.004007	0	14	37		
SHROOM3	57619	broad.mit.edu	37	4	77670237	77670237	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:77670237G>A	ENST00000296043.6	+	6	4774	c.3821G>A	c.(3820-3822)gGa>gAa	p.G1274E		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1274					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCTGGTCCTGGATCTAGGTAT	0.423																																						uc011cbx.1		NaN																	0				skin(2)|ovary(1)	3						c.(3820-3822)GGA>GAA		shroom family member 3 protein							370.0	311.0	331.0					4																	77670237		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77670237G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.3821G>A	4.37:g.77670237G>A	ENSP00000296043:p.Gly1274Glu					SHROOM3_uc003hkg.2_Missense_Mutation_p.G1052E	p.G1274E	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		6	4774	+			1274					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.3821G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183803	0.57800	.	.	ENSG00000138771	ENST00000296043	T	0.36699	1.24	4.94	2.24	0.28232	.	0.460901	0.17685	N	0.165465	T	0.25568	0.0622	L	0.34521	1.04	0.32774	N	0.503436	B	0.24882	0.113	B	0.25506	0.061	T	0.23691	-1.0181	10	0.72032	D	0.01	-3.6133	6.6654	0.23037	0.1532:0.0:0.7044:0.1424	.	1274	Q8TF72	SHRM3_HUMAN	E	1274	ENSP00000296043:G1274E	ENSP00000296043:G1274E	G	+	2	0	SHROOM3	77889261	0.996000	0.38824	0.309000	0.25155	0.746000	0.42486	1.359000	0.34113	0.355000	0.24131	0.467000	0.42956	GGA		0.423	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2		NM_020859		66	60	0	0	0	0.01441	0	66	60		
PTPN13	5783	broad.mit.edu	37	4	87671723	87671723	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:87671723C>T	ENST00000411767.2	+	18	2814	c.2751C>T	c.(2749-2751)ctC>ctT	p.L917L	PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000427191.2_Silent_p.L917L|PTPN13_ENST00000511467.1_Silent_p.L917L|PTPN13_ENST00000436978.1_Silent_p.L917L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	917					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCAGCACCCTCAACAAACTTG	0.478																																						uc003hpz.2		NaN																	0				ovary(4)|breast(1)|kidney(1)	6						c.(2749-2751)CTC>CTT		protein tyrosine phosphatase, non-receptor type							107.0	107.0	107.0					4																	87671723		1973	4176	6149	SO:0001819	synonymous_variant	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87671723C>T		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2751C>T	4.37:g.87671723C>T						PTPN13_uc003hpy.2_Silent_p.L917L|PTPN13_uc003hqa.2_Silent_p.L917L|PTPN13_uc003hqb.2_Intron	p.L917L	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	18	3231	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	917					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.2751C>T	CCDS47094.1																																																																																				0.478	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1				30	91	0	0	0	0.007291	0	30	91		
BANK1	55024	broad.mit.edu	37	4	102946407	102946407	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:102946407G>A	ENST00000322953.4	+	9	1609	c.1335G>A	c.(1333-1335)caG>caA	p.Q445Q	RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000444316.2_Silent_p.Q415Q|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000508653.1_Silent_p.Q312Q|BANK1_ENST00000504592.1_Silent_p.Q430Q|BANK1_ENST00000428908.1_Silent_p.Q312Q	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	445					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CATACGGGCAGAGTGCAGATG	0.463																																						uc003hvy.3		NaN																	0				ovary(2)|skin(1)	3						c.(1333-1335)CAG>CAA		B-cell scaffold protein with ankyrin repeats 1							201.0	197.0	198.0					4																	102946407		2203	4300	6503	SO:0001819	synonymous_variant	55024				B cell activation			g.chr4:102946407G>A	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1335G>A	4.37:g.102946407G>A						BANK1_uc003hvx.3_Silent_p.Q430Q|BANK1_uc010ill.2_Silent_p.Q312Q|BANK1_uc003hvz.3_Silent_p.Q415Q	p.Q445Q	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	9	1609	+		Hepatocellular(203;0.217)	445					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	ENST00000322953.4	37	c.1335G>A	CCDS34038.1																																																																																				0.463	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1		NM_017935		25	64	0	0	0	0.016522	0	25	64		
SEC24D	9871	broad.mit.edu	37	4	119678896	119678896	+	Silent	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:119678896G>T	ENST00000280551.6	-	11	1639	c.1401C>A	c.(1399-1401)acC>acA	p.T467T	SEC24D_ENST00000429811.2_Silent_p.T23T|SEC24D_ENST00000419654.2_Silent_p.T23T|SEC24D_ENST00000379735.5_Silent_p.T468T|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000511481.1_Silent_p.T98T			O94855	SC24D_HUMAN	SEC24 family member D	467					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTTCCAGCATGGTCTTCAGTT	0.358																																						uc003ici.3		NaN																	0					0						c.(1399-1401)ACC>ACA		Sec24-related protein D							141.0	134.0	136.0					4																	119678896		2203	4300	6503	SO:0001819	synonymous_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119678896G>T	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1401C>A	4.37:g.119678896G>T						SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.T468T|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA	p.T467T	NM_014822	NP_055637	O94855	SC24D_HUMAN			11	1673	-			467					Q8IYI7	Silent	SNP	ENST00000280551.6	37	c.1401C>A	CCDS3710.1																																																																																				0.358	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4				33	26	1	0	2.20262e-25	0.013726	2.41176e-25	33	26		
PCDH10	57575	broad.mit.edu	37	4	134071531	134071531	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:134071531T>C	ENST00000264360.5	+	1	1062	c.236T>C	c.(235-237)aTa>aCa	p.I79T	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	79	Cadherin 1. {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)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AACGAGAAAATAGACCGCGAA	0.552																																						uc003iha.2		NaN																	0				ovary(2)	2						c.(235-237)ATA>ACA		protocadherin 10 isoform 1 precursor							74.0	80.0	78.0					4																	134071531		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071531T>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.236T>C	4.37:g.134071531T>C	ENSP00000264360:p.Ile79Thr					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.I79T	p.I79T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1062	+			79			Cadherin 1.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.236T>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.125817	0.56721	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.35048	1.33	4.66	4.66	0.58398	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.46442	D	0.000294	T	0.71065	0.3296	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	1.0;1.0	T	0.81366	-0.0965	10	0.87932	D	0	.	13.9084	0.63850	0.0:0.0:0.0:1.0	.	79;79	Q9P2E7;Q96SF0	PCD10_HUMAN;.	T	79	ENSP00000264360:I79T	ENSP00000264360:I79T	I	+	2	0	PCDH10	134290981	1.000000	0.71417	0.996000	0.52242	0.812000	0.45895	7.868000	0.87116	1.945000	0.56424	0.454000	0.30748	ATA		0.552	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2		NM_032961		28	68	0	0	0	0.005443	0	28	68		
OTUD4	54726	broad.mit.edu	37	4	146071800	146071800	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:146071800G>C	ENST00000447906.2	-	13	1311	c.1124C>G	c.(1123-1125)tCa>tGa	p.S375*	Y_RNA_ENST00000459374.1_RNA|OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Nonsense_Mutation_p.S310*			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	375					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AGGTAGTGCTGATGGGGCTTT	0.423																																						uc003ika.3		NaN																	0				ovary(2)|breast(1)	3						c.(928-930)TCA>TGA		OTU domain containing 4 protein isoform 3							127.0	120.0	122.0					4																	146071800		2203	4300	6503	SO:0001587	stop_gained	54726						protein binding	g.chr4:146071800G>C		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1124C>G	4.37:g.146071800G>C	ENSP00000395487:p.Ser375*					OTUD4_uc003ijz.3_Nonsense_Mutation_p.S309*	p.S310*	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN			13	1067	-	all_hematologic(180;0.151)		374					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Nonsense_Mutation	SNP	ENST00000447906.2	37	c.929C>G		.	.	.	.	.	.	.	.	.	.	G	39	7.727037	0.98456	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973	.	.	.	5.9	5.9	0.94986	.	0.103089	0.43416	D	0.000578	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.9255	20.2626	0.98452	0.0:0.0:1.0:0.0	.	.	.	.	X	310;375;309	.	ENSP00000395487:S375X	S	-	2	0	OTUD4	146291250	1.000000	0.71417	0.953000	0.39169	0.995000	0.86356	7.159000	0.77483	2.802000	0.96397	0.650000	0.86243	TCA		0.423	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		NM_017493		16	70	0	0	0	0.004007	0	16	70		
TRIM2	23321	broad.mit.edu	37	4	154216911	154216911	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:154216911C>T	ENST00000437508.2	+	6	1353	c.1152C>T	c.(1150-1152)aaC>aaT	p.N384N	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Silent_p.N411N	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	384					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TCCTGGACAACAAGAACGGCA	0.567																																						uc003ing.2		NaN																	0				central_nervous_system(1)	1						c.(1150-1152)AAC>AAT		tripartite motif-containing 2 isoform 2							117.0	114.0	115.0					4																	154216911		2203	4300	6503	SO:0001819	synonymous_variant	23321					cytoplasm	zinc ion binding	g.chr4:154216911C>T	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1152C>T	4.37:g.154216911C>T						TRIM2_uc003inh.2_Silent_p.N411N	p.N384N	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1353	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	384			Filamin.		D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	ENST00000437508.2	37	c.1152C>T	CCDS47147.1																																																																																				0.567	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1				15	27	0	0	0	0.004007	0	15	27		
DCHS2	54798	broad.mit.edu	37	4	155156345	155156345	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:155156345C>G	ENST00000357232.4	-	25	8093	c.8094G>C	c.(8092-8094)gtG>gtC	p.V2698V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2698					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTCGGCAGTCACCATCACAT	0.552																																						uc003inw.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(8092-8094)GTG>GTC		dachsous 2 isoform 1							88.0	77.0	80.0					4																	155156345		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155156345C>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8094G>C	4.37:g.155156345C>G							p.V2698V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	8094	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2698					B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.8094G>C	CCDS3785.1																																																																																				0.552	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2		NM_001142552		23	39	0	0	0	0.012319	0	23	39		
CTSO	1519	broad.mit.edu	37	4	156850779	156850779	+	Silent	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:156850779T>C	ENST00000433477.3	-	6	822	c.753A>G	c.(751-753)caA>caG	p.Q251Q		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	257					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCAGATAATCTTGCCAGCTCA	0.413																																					Pancreas(148;2303 2598 8989 35298)	uc003ipg.2		NaN																	0					0						c.(751-753)CAA>CAG		cathepsin O preproprotein							119.0	110.0	113.0					4																	156850779		2203	4300	6503	SO:0001819	synonymous_variant	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156850779T>C	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.753A>G	4.37:g.156850779T>C							p.Q251Q	NM_001334	NP_001325	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	6	802	-	all_hematologic(180;0.24)	Renal(120;0.0458)	251					Q6FHS6	Silent	SNP	ENST00000433477.3	37	c.753A>G	CCDS3794.1																																																																																				0.413	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1		NM_001334		16	46	0	0	0	0.004007	0	16	46		
ADCY2	108	broad.mit.edu	37	5	7707855	7707855	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:7707855G>C	ENST00000338316.4	+	9	1394	c.1305G>C	c.(1303-1305)ttG>ttC	p.L435F	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.L255F	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	435					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						TGGAGCACTTGAATGGCGCTT	0.408																																						uc003jdz.1		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1303-1305)TTG>TTC		adenylate cyclase 2							126.0	125.0	126.0					5																	7707855		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.chr5:7707855G>C	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.1305G>C	5.37:g.7707855G>C	ENSP00000342952:p.Leu435Phe					ADCY2_uc011cmo.1_Missense_Mutation_p.L255F	p.L435F	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			9	1372	+			435			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1305G>C	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852428	0.91355	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.86956	-2.19;-2.19	5.85	5.85	0.93711	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.64402	D	0.000001	D	0.95796	0.8632	H	0.94847	3.59	0.51012	D	0.999903	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.96273	0.9200	10	0.87932	D	0	.	20.168	0.98156	0.0:0.0:1.0:0.0	.	255;435	B7Z2C1;Q08462	.;ADCY2_HUMAN	F	435;286;255	ENSP00000342952:L435F;ENSP00000444803:L255F	ENSP00000342952:L435F	L	+	3	2	ADCY2	7760855	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.328000	0.65887	2.761000	0.94854	0.650000	0.86243	TTG		0.408	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		90	56	0	0	0	0.01441	0	90	56		
SEMA5A	9037	broad.mit.edu	37	5	9119187	9119187	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:9119187C>T	ENST00000382496.5	-	15	2513	c.1848G>A	c.(1846-1848)caG>caA	p.Q616Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	616	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGCCGCACCTGGAAGCCGA	0.652																																						uc003jek.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1846-1848)CAG>CAA		semaphorin 5A precursor							47.0	43.0	44.0					5																	9119187		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9119187C>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1848G>A	5.37:g.9119187C>T							p.Q616Q	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			15	2560	-			616			TSP type-1 2.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.1848G>A	CCDS3875.1																																																																																				0.652	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2				6	12	0	0	0	0.00308	0	6	12		
WDR70	55100	broad.mit.edu	37	5	37379640	37379640	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:37379640G>A	ENST00000265107.4	+	2	231	c.75G>A	c.(73-75)atG>atA	p.M25I	WDR70_ENST00000504564.1_Missense_Mutation_p.M25I	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	25							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGGTCACCATGGGCTTCACGG	0.622																																						uc003jkv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(73-75)ATG>ATA		WD repeat domain 70							28.0	33.0	31.0					5																	37379640		2203	4299	6502	SO:0001583	missense	55100							g.chr5:37379640G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.75G>A	5.37:g.37379640G>A	ENSP00000265107:p.Met25Ile					WDR70_uc010iva.1_Missense_Mutation_p.M25I	p.M25I	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	133	+	all_lung(31;0.000285)		25					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.75G>A	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304159	0.81136	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.90844	-0.62;-2.74	4.07	4.07	0.47477	.	0.000000	0.85682	U	0.000000	D	0.94456	0.8216	M	0.72118	2.19	0.54753	D	0.999987	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	D	0.95129	0.8253	10	0.72032	D	0.01	0.0096	16.3775	0.83410	0.0:0.0:1.0:0.0	.	25;25	D6RIW8;Q9NW82	.;WDR70_HUMAN	I	25	ENSP00000265107:M25I;ENSP00000425841:M25I	ENSP00000265107:M25I	M	+	3	0	WDR70	37415397	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	5.286000	0.65639	2.273000	0.75805	0.557000	0.71058	ATG		0.622	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1		NM_018034		30	40	0	0	0	0.007291	0	30	40		
SREK1	140890	broad.mit.edu	37	5	65474672	65474672	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:65474672C>G	ENST00000380918.3	+	13	2163	c.1503C>G	c.(1501-1503)ctC>ctG	p.L501L	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Silent_p.L617L	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	501					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L501L(1)|p.L617L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AAGAAAACCTCTCTACCAAAA	0.398																																					GBM(10;31 347 27684 38976 41583)	uc003juo.2		NaN																	2	Substitution - coding silent(2)		breast(2)		0						c.(1501-1503)CTC>CTG		splicing factor, arginine/serine-rich 12 isoform							129.0	111.0	117.0					5																	65474672		2203	4300	6503	SO:0001819	synonymous_variant	140890				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding	g.chr5:65474672C>G	AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.1503C>G	5.37:g.65474672C>G						SFRS12_uc003jun.2_Silent_p.L617L|SFRS12_uc010iwy.2_Silent_p.L500L	p.L501L	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN		Lung(70;0.00449)	13	2163	+		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)	501					A4FTW3|Q2M1J0|Q86X37	Silent	SNP	ENST00000380918.3	37	c.1503C>G	CCDS3991.1																																																																																				0.398	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1		NM_001077199		22	51	0	0	0	0.014323	0	22	51		
BDP1	55814	broad.mit.edu	37	5	70818196	70818196	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:70818196G>A	ENST00000358731.4	+	23	5335	c.5072G>A	c.(5071-5073)aGa>aAa	p.R1691K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1691					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATTTGGGAAGAGCACACAGT	0.398																																						uc003kbp.1		NaN																	0				skin(2)	2						c.(5071-5073)AGA>AAA		transcription factor-like nuclear regulator							151.0	151.0	151.0					5																	70818196		1854	4097	5951	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70818196G>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5072G>A	5.37:g.70818196G>A	ENSP00000351575:p.Arg1691Lys					BDP1_uc003kbo.2_Missense_Mutation_p.R1691K|BDP1_uc003kbq.1_RNA	p.R1691K	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	23	5335	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1691					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.5072G>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023247	0.54683	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.12984	2.63	5.21	3.28	0.37604	.	0.485095	0.19042	N	0.124255	T	0.15696	0.0378	L	0.60455	1.87	0.80722	D	1	P;P	0.50943	0.782;0.94	B;P	0.47402	0.24;0.546	T	0.10520	-1.0626	10	0.10377	T	0.69	.	8.7314	0.34501	0.0:0.1822:0.6568:0.161	.	1691;1691	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	K	1691;1271	ENSP00000351575:R1691K	ENSP00000351575:R1691K	R	+	2	0	BDP1	70853952	0.956000	0.32656	0.994000	0.49952	0.836000	0.47400	1.673000	0.37534	1.148000	0.42385	0.555000	0.69702	AGA		0.398	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2		NM_018429		80	65	0	0	0	0.01441	0	80	65		
EPB41L4A	64097	broad.mit.edu	37	5	111601977	111601977	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:111601977G>A	ENST00000261486.5	-	5	662	c.386C>T	c.(385-387)cCc>cTc	p.P129L		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	129	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GACGGGACAGGGCAGACGGCC	0.453																																						uc003kpv.1		NaN																	0				ovary(1)	1						c.(385-387)CCC>CTC		erythrocyte protein band 4.1-like 4							43.0	44.0	44.0					5																	111601977		1925	4151	6076	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111601977G>A	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.386C>T	5.37:g.111601977G>A	ENSP00000261486:p.Pro129Leu					EPB41L4A_uc003kpw.1_Missense_Mutation_p.P129L	p.P129L	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	5	660	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	129			FERM.		A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.386C>T	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407992	0.83340	.	.	ENSG00000129595	ENST00000261486	T	0.78595	-1.19	5.91	5.03	0.67393	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.82935	0.5145	L	0.52573	1.65	0.58432	D	0.999996	D	0.63046	0.992	P	0.59703	0.862	D	0.84343	0.0528	10	0.59425	D	0.04	.	15.4267	0.75059	0.0:0.0:0.8598:0.1402	.	129	Q9HCS5	E41LA_HUMAN	L	129	ENSP00000261486:P129L	ENSP00000261486:P129L	P	-	2	0	EPB41L4A	111629876	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	6.175000	0.71949	1.475000	0.48197	0.655000	0.94253	CCC		0.453	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1				5	6	0	0	0	0.014758	0	5	6		
ZRSR1	7310	broad.mit.edu	37	5	112228423	112228423	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:112228423G>A	ENST00000391338.1	+	1	1111	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	REEP5_ENST00000513339.1_Intron|REEP5_ENST00000379638.4_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_3'UTR|CTC-487M23.5_ENST00000602872.1_RNA|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	363						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						CTCCTCCTTTGGCAAGAACTC	0.493																																						uc011cvv.1		NaN																	0					0						c.(1162-1164)GGC>AGC		SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;																																				SO:0001583	missense	6728				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding	g.chr5:112228423G>A	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.1087G>A	5.37:g.112228423G>A	ENSP00000375133:p.Gly363Ser					SRP19_uc011cvu.1_Missense_Mutation_p.G373S|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_RNA|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron	p.G388S			P09132	SRP19_HUMAN		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)	4	1417	+		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)	Error:Variant_position_missing_in_P09132_after_alignment					B2R901|Q13570|Q2M3R8	Missense_Mutation	SNP	ENST00000391338.1	37	c.1162G>A		.	.	.	.	.	.	.	.	.	.	G	5.807	0.333169	0.11013	.	.	ENSG00000212643	ENST00000391338	.	.	.	1.31	-1.18	0.09617	.	0.392012	0.29508	N	0.011942	T	0.08313	0.0207	.	.	.	0.09310	N	1	B	0.27450	0.179	B	0.24974	0.057	T	0.27468	-1.0073	8	0.02654	T	1	.	1.9034	0.03272	0.233:0.0:0.4545:0.3125	.	363	Q15695	U2AFL_HUMAN	S	363	.	ENSP00000375133:G363S	G	+	1	0	ZRSR1	112256322	0.994000	0.37717	0.000000	0.03702	0.034000	0.12701	-0.167000	0.09940	-0.388000	0.07797	-0.444000	0.05651	GGC		0.493	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371801.1		NM_005083		18	44	0	0	0	0.00499	0	18	44		
P4HA2	8974	broad.mit.edu	37	5	131530659	131530659	+	Silent	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:131530659T>A	ENST00000401867.1	-	15	2065	c.1497A>T	c.(1495-1497)acA>acT	p.T499T	P4HA2_ENST00000166534.4_Silent_p.T499T|P4HA2_ENST00000379100.2_Silent_p.T497T|P4HA2_ENST00000360568.3_Silent_p.T497T|P4HA2-AS1_ENST00000417667.1_RNA|P4HA2_ENST00000379086.1_Silent_p.T497T|P4HA2_ENST00000379104.2_Silent_p.T499T			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	499	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CAGCATGTCTTGTTCGGTAGT	0.532																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	uc003kwh.2		NaN																	0					0						c.(1495-1497)ACA>ACT		prolyl 4-hydroxylase, alpha II subunit isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)						237.0	189.0	205.0					5																	131530659		2203	4300	6503	SO:0001819	synonymous_variant	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131530659T>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.1497A>T	5.37:g.131530659T>A						P4HA2_uc003kwg.2_Silent_p.T497T|P4HA2_uc003kwi.2_Silent_p.T497T|P4HA2_uc003kwk.2_Silent_p.T497T|P4HA2_uc003kwl.2_Silent_p.T499T|P4HA2_uc003kwj.2_Silent_p.T497T	p.T499T	NM_004199	NP_004190	O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	2061	-		all_cancers(142;0.103)|Breast(839;0.198)	499			Fe2OG dioxygenase.		D3DQ85|D3DQ86|Q8WWN0	Silent	SNP	ENST00000401867.1	37	c.1497A>T	CCDS4151.1																																																																																				0.532	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4		NM_004199		21	49	0	0	0	0.010504	0	21	49		
KDM3B	51780	broad.mit.edu	37	5	137750823	137750823	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:137750823A>G	ENST00000314358.5	+	12	3402	c.3202A>G	c.(3202-3204)Aca>Gca	p.T1068A	KDM3B_ENST00000394866.1_Missense_Mutation_p.T724A|KDM3B_ENST00000542866.1_Missense_Mutation_p.T100A	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1068					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TATTTCAGAGACAGAAGAGAT	0.413																																						uc003lcy.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(3202-3204)ACA>GCA		jumonji domain containing 1B							77.0	77.0	77.0					5																	137750823		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137750823A>G	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3202A>G	5.37:g.137750823A>G	ENSP00000326563:p.Thr1068Ala					KDM3B_uc010jew.1_Missense_Mutation_p.T724A|KDM3B_uc011cys.1_Missense_Mutation_p.T100A	p.T1068A	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			12	3402	+			1068					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.3202A>G	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	A	6.772	0.511383	0.12944	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.70516	0.09;-0.49;-0.47	5.23	4.06	0.47325	.	0.291484	0.39834	N	0.001249	T	0.50650	0.1628	N	0.25647	0.755	0.54753	D	0.999989	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.32025	-0.9922	10	0.09084	T	0.74	-33.0244	7.5282	0.27668	0.7642:0.0:0.2358:0.0	.	724;1068	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	A	1068;858;724;100	ENSP00000326563:T1068A;ENSP00000378335:T724A;ENSP00000439462:T100A	ENSP00000326563:T1068A	T	+	1	0	KDM3B	137778722	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.120000	0.41968	0.825000	0.34637	0.460000	0.39030	ACA		0.413	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1		NM_016604		10	37	0	0	0	0.010729	0	10	37		
PCDHB7	56129	broad.mit.edu	37	5	140553173	140553173	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:140553173G>A	ENST00000231137.3	+	1	931	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	253	Cadherin 3. {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)	p.E253K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGTGCCCGAAAATAGCCC	0.517																																						uc003lit.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(757-759)GAA>AAA		protocadherin beta 7 precursor							65.0	70.0	69.0					5																	140553173		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553173G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.757G>A	5.37:g.140553173G>A	ENSP00000231137:p.Glu253Lys						p.E253K	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	931	+			253			Extracellular (Potential).|Cadherin 3.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.757G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294126	0.60086	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.76316	-1.01	4.61	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92691	0.7677	H	0.98111	4.15	0.49798	D	0.999827	D	0.89917	1.0	D	0.97110	1.0	D	0.95632	0.8690	9	0.87932	D	0	.	17.4139	0.87494	0.0:0.0:1.0:0.0	.	253	Q9Y5E2	PCDB7_HUMAN	K	253;36	ENSP00000231137:E253K	ENSP00000231137:E253K	E	+	1	0	PCDHB7	140533357	1.000000	0.71417	0.034000	0.17996	0.077000	0.17291	9.783000	0.99037	2.248000	0.74166	0.655000	0.94253	GAA		0.517	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		NM_018940		22	63	0	0	0	0.016522	0	22	63		
PCDHGA2	56113	broad.mit.edu	37	5	140720625	140720625	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:140720625C>T	ENST00000394576.2	+	1	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	696					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGTGGCCGCG	0.672																																						uc003ljk.1		NaN																	0				skin(2)|ovary(1)	3						c.(2086-2088)GCG>GTG		protocadherin gamma subfamily A, 2 isoform 1							98.0	105.0	102.0					5																	140720625		2203	4296	6499	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720625C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2087C>T	5.37:g.140720625C>T	ENSP00000378077:p.Ala696Val					PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.A696V|PCDHGA3_uc011dap.1_5'Flank	p.A696V	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2272	+			696			Helical; (Potential).		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2087C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.101865	0.76983	.	.	ENSG00000081853	ENST00000394576	T	0.25250	1.81	5.05	5.05	0.67936	.	0.000000	0.41097	U	0.000960	T	0.64148	0.2572	H	0.96943	3.91	0.35538	D	0.802815	D;D	0.89917	0.997;1.0	D;D	0.65140	0.927;0.932	T	0.82424	-0.0464	10	0.87932	D	0	.	16.6115	0.84884	0.0:1.0:0.0:0.0	.	696;696	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	696	ENSP00000378077:A696V	ENSP00000378077:A696V	A	+	2	0	PCDHGA2	140700809	0.998000	0.40836	0.952000	0.39060	0.008000	0.06430	4.415000	0.59809	2.532000	0.85374	0.485000	0.47835	GCG		0.672	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1		NM_018915		6	151	0	0	0	0.001168	0	6	151		
SLC6A7	6534	broad.mit.edu	37	5	149588987	149588987	+	Missense_Mutation	SNP	C	C	T	rs144483863	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:149588987C>T	ENST00000230671.2	+	14	2091	c.1720C>T	c.(1720-1722)Cgg>Tgg	p.R574W	SLC6A7_ENST00000524041.1_Missense_Mutation_p.R574W	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	574					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	ACAGGCCAGCCGGCCGGCCAT	0.622																																						uc003lrr.2		NaN																	0					0						c.(1720-1722)CGG>TGG		solute carrier family 6, member 7	L-Proline(DB00172)	C	TRP/ARG	0,4402		0,0,2201	35.0	42.0	40.0		1720	4.3	1.0	5	dbSNP_134	40	2,8584		0,2,4291	no	missense	SLC6A7	NM_014228.3	101	0,2,6492	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	574/637	149588987	2,12986	2201	4293	6494	SO:0001583	missense	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149588987C>T	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1720C>T	5.37:g.149588987C>T	ENSP00000230671:p.Arg574Trp						p.R574W	NM_014228	NP_055043	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	2091	+		all_hematologic(541;0.224)	574			Cytoplasmic (Potential).		Q0VG81|Q52LU6	Missense_Mutation	SNP	ENST00000230671.2	37	c.1720C>T	CCDS4305.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690117	0.68271	0.0	2.33E-4	ENSG00000011083	ENST00000230671;ENST00000524041	T;T	0.75050	-0.9;-0.9	5.15	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.76608	0.4011	L	0.27053	0.805	0.51233	D	0.99991	D	0.89917	1.0	D	0.66979	0.948	T	0.78971	-0.1993	10	0.87932	D	0	.	12.5142	0.56024	0.4306:0.5693:0.0:0.0	.	574	Q99884	SC6A7_HUMAN	W	574	ENSP00000230671:R574W;ENSP00000428200:R574W	ENSP00000230671:R574W	R	+	1	2	SLC6A7	149569180	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.823000	0.27366	1.134000	0.42165	0.561000	0.74099	CGG		0.622	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1		NM_014228		15	44	0	0	0	0.004007	0	15	44		
ANXA6	309	broad.mit.edu	37	5	150483166	150483166	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:150483166C>T	ENST00000354546.5	-	25	2154	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	ANXA6_ENST00000377751.5_Missense_Mutation_p.E300K|ANXA6_ENST00000523714.1_Missense_Mutation_p.E611K|ANXA6_ENST00000356496.5_Missense_Mutation_p.E637K|ANXA6_ENST00000521512.1_Missense_Mutation_p.E430K	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	643					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATATTTCTCAATGAATTCC	0.507																																						uc003ltl.1		NaN																	0					0						c.(1927-1929)GAG>AAG		annexin VI isoform 1							59.0	61.0	61.0					5																	150483166		1987	4164	6151	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150483166C>T	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1927G>A	5.37:g.150483166C>T	ENSP00000346550:p.Glu643Lys					ANXA6_uc011dcp.1_Missense_Mutation_p.E611K|ANXA6_uc003ltm.1_Missense_Mutation_p.E637K|ANXA6_uc003ltn.1_Missense_Mutation_p.E430K|ANXA6_uc003lto.1_Missense_Mutation_p.E230K	p.E643K	NM_001155	NP_001146	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		25	2079	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	643			Annexin 8.		B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1927G>A	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377036	0.24857	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153;ENST00000517486	T;T;T;T;T;T	0.02944	4.1;4.1;4.1;4.1;4.1;4.1	4.75	4.75	0.60458	Annexin repeat, conserved site (1);	0.225460	0.43110	D	0.000607	T	0.02267	0.0070	N	0.11673	0.155	0.49483	D	0.999792	P;P;P	0.47962	0.866;0.903;0.839	P;B;B	0.48873	0.593;0.315;0.315	T	0.54351	-0.8307	10	0.02654	T	1	.	10.5651	0.45167	0.0:0.9084:0.0:0.0916	.	430;637;643	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	K	643;611;300;637;430;517;136	ENSP00000346550:E643K;ENSP00000430517:E611K;ENSP00000366980:E300K;ENSP00000348889:E637K;ENSP00000430420:E430K;ENSP00000428916:E136K	ENSP00000346550:E643K	E	-	1	0	ANXA6	150463359	1.000000	0.71417	0.989000	0.46669	0.970000	0.65996	3.281000	0.51685	2.370000	0.80446	0.561000	0.74099	GAG		0.507	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2		NM_001155		7	15	0	0	0	0.001984	0	7	15		
EBF1	1879	broad.mit.edu	37	5	158223455	158223455	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:158223455C>T	ENST00000313708.6	-	9	1089	c.807G>A	c.(805-807)ccG>ccA	p.P269P	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.P261P|EBF1_ENST00000380654.4_Silent_p.P238P	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	269	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P269P(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTTCACTCGGGCTGATGG	0.463			T	HMGA2	lipoma																																	uc010jip.2		NaN		Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(805-807)CCG>CCA		early B-cell factor							109.0	90.0	96.0					5																	158223455		2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158223455C>T	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.807G>A	5.37:g.158223455C>T						EBF1_uc011ddw.1_Silent_p.P137P|EBF1_uc011ddx.1_Silent_p.P270P|EBF1_uc003lxl.3_Silent_p.P238P	p.P269P	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1109	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	269			IPT/TIG.		Q8IW11	Silent	SNP	ENST00000313708.6	37	c.807G>A	CCDS4343.1																																																																																				0.463	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1		NM_024007		30	7	0	0	0	0.008361	0	30	7		
F12	2161	broad.mit.edu	37	5	176831360	176831360	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:176831360C>T	ENST00000253496.3	-	9	903	c.855G>A	c.(853-855)ctG>ctA	p.L285L	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	285	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)		Ethanolamine Oleate(DB06689)	ACTCCCAGCTCAGCCGGTCGC	0.697									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mgo.3		NaN																	0					0						c.(853-855)CTG>CTA		coagulation factor XII precursor							16.0	20.0	18.0					5																	176831360		2200	4294	6494	SO:0001819	synonymous_variant	2161	Hereditary_Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176831360C>T	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.855G>A	5.37:g.176831360C>T			OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1934	F12_uc011dfy.1_5'UTR|F12_uc003mgn.3_5'UTR|F12_uc010jkl.2_RNA	p.L285L	NM_000505	NP_000496	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	904	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	285			Kringle.		P78339	Silent	SNP	ENST00000253496.3	37	c.855G>A	CCDS34302.1																																																																																				0.697	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1				19	4	0	0	0	0.006122	0	19	4		
TRIM38	10475	broad.mit.edu	37	6	25967107	25967107	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:25967107A>G	ENST00000357085.3	+	3	833	c.357A>G	c.(355-357)ccA>ccG	p.P119P	TRIM38_ENST00000349458.3_Silent_p.P119P	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	119					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						AGCGGGCACCACAGCACAAAG	0.557																																						uc003nfm.2		NaN																	0					0						c.(355-357)CCA>CCG		tripartite motif-containing 38							63.0	63.0	63.0					6																	25967107		2203	4300	6503	SO:0001819	synonymous_variant	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25967107A>G	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.357A>G	6.37:g.25967107A>G						TRIM38_uc003nfn.2_Silent_p.P119P	p.P119P	NM_006355	NP_006346	O00635	TRI38_HUMAN			3	792	+			119			B box-type.		B2R862	Silent	SNP	ENST00000357085.3	37	c.357A>G	CCDS4568.1																																																																																				0.557	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2				13	81	0	0	0	0.00245	0	13	81		
HIST1H4D	8360	broad.mit.edu	37	6	26189297	26189297	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:26189297C>G	ENST00000340756.2	-	1	7	c.8G>C	c.(7-9)gGc>gCc	p.G3A		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	3					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)				CTTACCGCGGCCAGACATCTT	0.512																																						uc003ngu.2		NaN																	0					0						c.(7-9)GGC>GCC		histone cluster 1, H4d							49.0	53.0	51.0					6																	26189297		2203	4300	6503	SO:0001583	missense	8360				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26189297C>G	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.8G>C	6.37:g.26189297C>G	ENSP00000343282:p.Gly3Ala						p.G3A	NM_003539	NP_003530	P62805	H4_HUMAN			1	8	-		all_hematologic(11;0.196)	3					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000340756.2	37	c.8G>C	CCDS4589.1	.	.	.	.	.	.	.	.	.	.	.	13.03	2.116706	0.37339	.	.	ENSG00000188987	ENST00000340756	.	.	.	5.32	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	.	.	.	0.40658	D	0.982103	.	.	.	.	.	.	T	0.71279	-0.4640	6	0.87932	D	0	.	13.0254	0.58812	0.0:0.9221:0.0:0.0779	.	.	.	.	A	3	.	ENSP00000343282:G3A	G	-	2	0	HIST1H4D	26297276	1.000000	0.71417	0.842000	0.33263	0.030000	0.12068	7.434000	0.80377	1.254000	0.44035	-0.142000	0.14014	GGC		0.512	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1		NM_003539		82	39	0	0	0	0.01441	0	82	39		
PGBD1	84547	broad.mit.edu	37	6	28265744	28265744	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:28265744G>A	ENST00000405948.2	+	6	1265	c.845G>A	c.(844-846)gGa>gAa	p.G282E	PGBD1_ENST00000259883.3_Missense_Mutation_p.G282E	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	282						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G282A(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAACAAAGTGGAGAAGCCTCA	0.353																																						uc003nky.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(844-846)GGA>GAA		piggyBac transposable element derived 1							62.0	69.0	67.0					6																	28265744		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28265744G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.845G>A	6.37:g.28265744G>A	ENSP00000385213:p.Gly282Glu					PGBD1_uc003nkz.2_Missense_Mutation_p.G282E	p.G282E	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			6	1215	+			282					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.845G>A	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	0.827	-0.746516	0.03065	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01287	5.05;5.05	4.36	-0.579	0.11720	.	2.563480	0.02276	N	0.068916	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48843	-0.8999	10	0.66056	D	0.02	-16.0548	1.0222	0.01520	0.352:0.2328:0.2815:0.1338	.	282	Q96JS3	PGBD1_HUMAN	E	282	ENSP00000385213:G282E;ENSP00000259883:G282E	ENSP00000259883:G282E	G	+	2	0	PGBD1	28373723	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.131000	0.15870	-0.130000	0.11599	-0.218000	0.12543	GGA		0.353	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2				9	76	0	0	0	0.004482	0	9	76		
MDC1	9656	broad.mit.edu	37	6	30673833	30673833	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:30673833G>A	ENST00000376406.3	-	10	3774	c.3127C>T	c.(3127-3129)Cct>Tct	p.P1043S	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P779S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1043	Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGGGCTTCAGGTACTGTAGGA	0.532								Other conserved DNA damage response genes																														uc003nrg.3		NaN																	0				breast(2)|ovary(1)|kidney(1)	4						c.(3127-3129)CCT>TCT	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							51.0	61.0	58.0					6																	30673833		2203	4299	6502	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673833G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3127C>T	6.37:g.30673833G>A	ENSP00000365588:p.Pro1043Ser					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P650S	p.P1043S	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	3567	-			1043	Missing (in Ref. 2; CAH18685).		Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.3127C>T	CCDS34384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.57|12.57	1.978988|1.978988	0.34942|0.34942	.|.	.|.	ENSG00000137337|ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104|ENST00000417033	T;T|.	0.13196|.	2.61;2.78|.	4.83|4.83	2.01|2.01	0.26516|0.26516	.|.	0.477550|.	0.15743|.	N|.	0.246802|.	T|T	0.09423|0.09423	0.0232|0.0232	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	D;P|.	0.59767|.	0.986;0.91|.	P;B|.	0.56163|.	0.793;0.265|.	T|T	0.33445|0.33445	-0.9868|-0.9868	10|5	0.45353|.	T|.	0.12|.	0.842|0.842	3.3098|3.3098	0.07013|0.07013	0.0942:0.1728:0.5541:0.1789|0.0942:0.1728:0.5541:0.1789	.|.	779;1043|.	Q14676-2;Q14676|.	.;MDC1_HUMAN|.	S|I	1043;779;1043;650|103	ENSP00000365588:P1043S;ENSP00000365587:P779S|.	ENSP00000365587:P779S|.	P|T	-|-	1|2	0|0	MDC1|MDC1	30781812|30781812	0.446000|0.446000	0.25665|0.25665	0.011000|0.011000	0.14972|0.14972	0.434000|0.434000	0.31775|0.31775	0.737000|0.737000	0.26144|0.26144	0.243000|0.243000	0.21327|0.21327	0.444000|0.444000	0.29173|0.29173	CCT|ACC		0.532	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1		NM_014641		46	36	0	0	0	0.013114	0	46	36		
B3GALT4	8705	broad.mit.edu	37	6	33246314	33246314	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:33246314T>A	ENST00000451237.1	+	1	1398	c.1118T>A	c.(1117-1119)aTa>aAa	p.I373K		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	373					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						TGTCGAGCAATAGCCTGGCTT	0.637																																						uc003odr.2		NaN																	0				ovary(1)|breast(1)	2						c.(1117-1119)ATA>AAA		UDP-Gal:betaGlcNAc beta							84.0	98.0	93.0					6																	33246314		2190	4290	6480	SO:0001583	missense	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33246314T>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.1118T>A	6.37:g.33246314T>A	ENSP00000390784:p.Ile373Lys						p.I373K	NM_003782	NP_003773	O96024	B3GT4_HUMAN			1	1398	+			373			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000451237.1	37	c.1118T>A	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.006181	0.35415	.	.	ENSG00000235863	ENST00000451237	T	0.49720	0.77	5.11	3.9	0.45041	.	0.350805	0.23169	N	0.051148	T	0.17408	0.0418	L	0.27053	0.805	0.50039	D	0.999845	B	0.26400	0.148	B	0.22601	0.04	T	0.07597	-1.0764	10	0.87932	D	0	.	7.8048	0.29195	0.185:0.0:0.0:0.815	.	373	O96024	B3GT4_HUMAN	K	373	ENSP00000390784:I373K	ENSP00000390784:I373K	I	+	2	0	B3GALT4	33354292	0.289000	0.24334	0.288000	0.24862	0.503000	0.33858	1.780000	0.38634	0.909000	0.36697	0.523000	0.50628	ATA		0.637	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2				19	121	0	0	0	0.008871	0	19	121		
ITPR3	3710	broad.mit.edu	37	6	33636829	33636829	+	Silent	SNP	G	G	T	rs529249523		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:33636829G>T	ENST00000374316.5	+	19	3145	c.2085G>T	c.(2083-2085)acG>acT	p.T695T	ITPR3_ENST00000605930.1_Silent_p.T695T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	695					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TGTGGCTCACGTGGACTGACA	0.587																																						uc011drk.1		NaN																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(2083-2085)ACG>ACT		inositol 1,4,5-triphosphate receptor, type 3							128.0	109.0	116.0					6																	33636829		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33636829G>T	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2085G>T	6.37:g.33636829G>T							p.T695T	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			18	2304	+			695			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.2085G>T	CCDS4783.1																																																																																				0.587	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2		NM_002224		21	83	1	0	8.34094e-07	0.008871	8.62746e-07	21	83		
UHRF1BP1	54887	broad.mit.edu	37	6	34791100	34791100	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:34791100C>A	ENST00000192788.5	+	4	484	c.313C>A	c.(313-315)Ccc>Acc	p.P105T	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.P105T|Y_RNA_ENST00000383990.1_RNA	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	105							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGACAGTCTCCCATTGCCCT	0.418																																						uc003oju.3		NaN																	0				ovary(3)	3						c.(313-315)CCC>ACC		ICBP90 binding protein 1							242.0	239.0	240.0					6																	34791100		1945	4124	6069	SO:0001583	missense	54887							g.chr6:34791100C>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.313C>A	6.37:g.34791100C>A	ENSP00000192788:p.Pro105Thr					UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA	p.P105T	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			4	547	+			105					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.313C>A	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890183	0.91889	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.10099	2.91;2.91	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.28366	0.0701	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.04386	-1.0955	10	0.87932	D	0	-18.6135	18.541	0.91027	0.0:1.0:0.0:0.0	.	105	Q6BDS2	URFB1_HUMAN	T	105	ENSP00000192788:P105T;ENSP00000400628:P105T	ENSP00000192788:P105T	P	+	1	0	UHRF1BP1	34899078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.616000	0.83018	2.604000	0.88044	0.655000	0.94253	CCC		0.418	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1		NM_017754		46	211	1	0	1.19451e-25	0.01441	1.31058e-25	46	211		
C6orf222	389384	broad.mit.edu	37	6	36287297	36287297	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:36287297C>G	ENST00000437635.2	-	11	1936	c.1759G>C	c.(1759-1761)Gct>Cct	p.A587P		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	587										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GAGGAGTGAGCCACCTGGCTG	0.552																																						uc003oly.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(1759-1761)GCT>CCT		hypothetical protein LOC389384							85.0	81.0	82.0					6																	36287297		2203	4300	6503	SO:0001583	missense	389384							g.chr6:36287297C>G		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1759G>C	6.37:g.36287297C>G	ENSP00000418983:p.Ala587Pro						p.A587P	NM_001010903	NP_001010903	P0C671	CF222_HUMAN			11	1937	-			587					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.1759G>C	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016559	0.54468	.	.	ENSG00000189325	ENST00000437635	T	0.57907	0.37	5.28	-3.6	0.04570	.	0.456178	0.18771	N	0.131610	T	0.14614	0.0353	L	0.39633	1.23	0.09310	N	1	B	0.21606	0.058	B	0.23018	0.043	T	0.13818	-1.0495	10	0.42905	T	0.14	-35.1799	1.4185	0.02306	0.1291:0.2184:0.2525:0.4	.	587	P0C671	CF222_HUMAN	P	587	ENSP00000418983:A587P	ENSP00000418983:A587P	A	-	1	0	C6orf222	36395275	0.000000	0.05858	0.000000	0.03702	0.821000	0.46438	-0.445000	0.06845	-0.397000	0.07691	-0.257000	0.10917	GCT		0.552	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2		NM_001010903		74	24	0	0	0	0.01441	0	74	24		
STK38	11329	broad.mit.edu	37	6	36492140	36492140	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:36492140A>G	ENST00000229812.7	-	4	569	c.284T>C	c.(283-285)aTa>aCa	p.I95T	RN7SL748P_ENST00000483066.2_RNA	NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTCTGCCTATTACTTTTAA	0.378																																					Colon(180;997 3561 16158)	uc003omg.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(283-285)ATA>ACA		serine/threonine kinase 38							136.0	135.0	135.0					6																	36492140		2203	4300	6503	SO:0001583	missense	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36492140A>G		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.284T>C	6.37:g.36492140A>G	ENSP00000229812:p.Ile95Thr					STK38_uc003omh.2_Missense_Mutation_p.I95T|STK38_uc003omi.2_Missense_Mutation_p.I95T	p.I95T	NM_007271	NP_009202	Q15208	STK38_HUMAN			3	872	-			95			Protein kinase.|ATP (By similarity).			Missense_Mutation	SNP	ENST00000229812.7	37	c.284T>C	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460124	0.84317	.	.	ENSG00000112079	ENST00000229812	T	0.54279	0.58	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.040780	0.85682	D	0.000000	T	0.74854	0.3771	M	0.93638	3.44	0.80722	D	1	D	0.54397	0.966	D	0.66979	0.948	T	0.82378	-0.0487	10	0.87932	D	0	.	15.5898	0.76517	1.0:0.0:0.0:0.0	.	95	Q15208	STK38_HUMAN	T	95	ENSP00000229812:I95T	ENSP00000229812:I95T	I	-	2	0	STK38	36600118	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.761000	0.91691	2.257000	0.74773	0.533000	0.62120	ATA		0.378	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1		NM_007271		96	24	0	0	0	0.01441	0	96	24		
TBC1D22B	55633	broad.mit.edu	37	6	37280749	37280749	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:37280749C>T	ENST00000373491.3	+	9	1184	c.1038C>T	c.(1036-1038)agC>agT	p.S346S		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	346	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			TGCTGCGAAGCATTGAGGCTG	0.478																																						uc003onn.2		NaN																	0					0						c.(1036-1038)AGC>AGT		TBC1 domain family, member 22B							145.0	130.0	135.0					6																	37280749		2203	4300	6503	SO:0001819	synonymous_variant	55633					intracellular	Rab GTPase activator activity	g.chr6:37280749C>T	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.1038C>T	6.37:g.37280749C>T						TBC1D22B_uc010jwt.2_RNA|TBC1D22B_uc003ono.1_Silent_p.S4S|TBC1D22B_uc003onp.2_Silent_p.S4S	p.S346S	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		9	1184	+			346			Rab-GAP TBC.		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Silent	SNP	ENST00000373491.3	37	c.1038C>T	CCDS4832.1																																																																																				0.478	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1		NM_017772		98	20	0	0	0	0.01441	0	98	20		
CD2AP	23607	broad.mit.edu	37	6	47512341	47512341	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:47512341G>A	ENST00000359314.5	+	4	775		c.e4-1			NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACTTTCTTTAGAGACCAAGAA	0.289																																						uc003oyw.2		NaN																	0				ovary(1)|skin(1)	2						c.e4-1		CD2-associated protein							79.0	81.0	80.0					6																	47512341		2203	4299	6502	SO:0001630	splice_region_variant	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47512341G>A	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.320-1G>A	6.37:g.47512341G>A							p.K107_splice	NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		4	776	+								A6NL34|Q5VYA3|Q9UG97	Splice_Site	SNP	ENST00000359314.5	37	c.320_splice	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972524	0.74246	.	.	ENSG00000198087	ENST00000359314	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4164	0.90571	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD2AP	47620300	1.000000	0.71417	0.957000	0.39632	0.798000	0.45092	8.363000	0.90103	2.628000	0.89032	0.655000	0.94253	.		0.289	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			Intron	17	84	0	0	0	0.004007	0	17	84		
GPR115	221393	broad.mit.edu	37	6	47682609	47682609	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:47682609A>G	ENST00000283303.2	+	6	1886	c.1628A>G	c.(1627-1629)tAc>tGc	p.Y543C	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.Y543C|GPR115_ENST00000371220.1_Missense_Mutation_p.Y600C	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	543					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GAGAAAGGCTACATGAGACCT	0.483																																					GBM(22;431 510 9010 26644 32828)	uc003oza.1		NaN																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1627-1629)TAC>TGC		G-protein coupled receptor 115 precursor							152.0	144.0	147.0					6																	47682609		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682609A>G	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1628A>G	6.37:g.47682609A>G	ENSP00000283303:p.Tyr543Cys					GPR115_uc003oyz.1_Missense_Mutation_p.Y600C|GPR115_uc003ozb.1_Missense_Mutation_p.Y541C	p.Y543C	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	1886	+			543			Extracellular (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1628A>G	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	A	14.10	2.433526	0.43224	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.58210	0.35;0.35;0.35	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000005	T	0.75982	0.3924	H	0.94222	3.51	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	D	0.83726	0.0195	10	0.87932	D	0	-22.9519	14.597	0.68415	1.0:0.0:0.0:0.0	.	543	Q8IZF3	GP115_HUMAN	C	600;543;543	ENSP00000360264:Y600C;ENSP00000328319:Y543C;ENSP00000283303:Y543C	ENSP00000283303:Y543C	Y	+	2	0	GPR115	47790568	1.000000	0.71417	0.960000	0.40013	0.060000	0.15804	6.081000	0.71309	2.096000	0.63516	0.533000	0.62120	TAC		0.483	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2		NM_153838		147	84	0	0	0	0.01441	0	147	84		
DDX43	55510	broad.mit.edu	37	6	74104758	74104758	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:74104758A>G	ENST00000370336.4	+	1	288	c.130A>G	c.(130-132)Agt>Ggt	p.S44G	snoU13_ENST00000459178.1_RNA|DDX43_ENST00000539829.1_Missense_Mutation_p.S44G|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	44					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGAGGGATATAGTGTCGGCAG	0.627											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003pgw.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(130-132)AGT>GGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							58.0	62.0	60.0					6																	74104758		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74104758A>G		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.130A>G	6.37:g.74104758A>G	ENSP00000359361:p.Ser44Gly		OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1150	OOEP_uc003pgv.3_5'UTR|DDX43_uc011dyn.1_RNA	p.S44G	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN			1	474	+			44					B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.130A>G	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	A	8.730	0.916444	0.17907	.	.	ENSG00000080007	ENST00000370336;ENST00000539829	T;T	0.48201	2.33;0.82	3.59	-2.41	0.06562	.	0.898428	0.09706	N	0.766297	T	0.09818	0.0241	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33445	-0.9868	10	0.17369	T	0.5	-6.0071	5.8685	0.18791	0.3516:0.5366:0.1118:0.0	.	44	Q9NXZ2	DDX43_HUMAN	G	44	ENSP00000359361:S44G;ENSP00000441636:S44G	ENSP00000359361:S44G	S	+	1	0	DDX43	74161479	0.004000	0.15560	0.000000	0.03702	0.008000	0.06430	0.144000	0.16135	-0.410000	0.07542	0.374000	0.22700	AGT		0.627	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3		NM_018665		67	22	0	0	0	0.01441	0	67	22		
IRAK1BP1	134728	broad.mit.edu	37	6	79577521	79577521	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:79577521C>T	ENST00000369940.2	+	1	333	c.228C>T	c.(226-228)agC>agT	p.S76S		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	76	Intrinsically disordered.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		GAGTGAGCAGCACCAAGGAGG	0.627																																						uc003pim.2		NaN																	0					0						c.(226-228)AGC>AGT		interleukin-1 receptor-associated kinase 1							22.0	22.0	22.0					6																	79577521		2202	4298	6500	SO:0001819	synonymous_variant	134728				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr6:79577521C>T	AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.228C>T	6.37:g.79577521C>T						IRAK1BP1_uc010kbg.1_RNA	p.S76S	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.21)	1	333	+		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)	76			Intrinsically disordered.			Silent	SNP	ENST00000369940.2	37	c.228C>T	CCDS34488.1																																																																																				0.627	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2		XM_059729		19	4	0	0	0	0.007413	0	19	4		
BACH2	60468	broad.mit.edu	37	6	90660532	90660532	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:90660532C>T	ENST00000257749.4	-	7	2000	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Silent_p.V431V|BACH2_ENST00000343122.3_Silent_p.V431V	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	431						cytoplasm (GO:0005737)|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 negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGGAGAAGATCACGCTCCTCC	0.592																																						uc011eab.1		NaN																	0				ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(1291-1293)GTG>GTA		BTB and CNC homology 1, basic leucine zipper							35.0	38.0	37.0					6																	90660532		2203	4299	6502	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660532C>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1293G>A	6.37:g.90660532C>T						BACH2_uc003pnw.2_Silent_p.V431V|BACH2_uc010kch.2_Silent_p.V431V	p.V431V	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	2102	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	431					E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.1293G>A	CCDS5026.1																																																																																				0.592	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2		NM_021813		59	14	0	0	0	0.01441	0	59	14		
ASCC3	10973	broad.mit.edu	37	6	101037582	101037582	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:101037582A>T	ENST00000369162.2	-	36	5822	c.5478T>A	c.(5476-5478)caT>caA	p.H1826Q		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1826	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TAACTGTTTGATGCTTCAAAT	0.348																																						uc003pqk.2		NaN																	0				ovary(5)|skin(1)	6						c.(5476-5478)CAT>CAA		activating signal cointegrator 1 complex subunit							102.0	105.0	104.0					6																	101037582		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101037582A>T	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5478T>A	6.37:g.101037582A>T	ENSP00000358159:p.His1826Gln						p.H1826Q	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	36	5807	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1826			SEC63 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.5478T>A	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.585964	0.66105	.	.	ENSG00000112249	ENST00000369162	T	0.61510	0.1	5.22	2.31	0.28768	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74210	-0.3739	10	0.72032	D	0.01	.	8.5335	0.33349	0.3384:0.0:0.6616:0.0	.	1826	Q8N3C0	HELC1_HUMAN	Q	1826	ENSP00000358159:H1826Q	ENSP00000358159:H1826Q	H	-	3	2	ASCC3	101144303	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.563000	0.36364	0.238000	0.21222	-0.472000	0.04984	CAT		0.348	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2		NM_006828		89	36	0	0	0	0.01441	0	89	36		
BEND3	57673	broad.mit.edu	37	6	107390828	107390828	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:107390828C>T	ENST00000369042.1	-	4	1757	c.1567G>A	c.(1567-1569)Ggt>Agt	p.G523S	BEND3_ENST00000429433.2_Missense_Mutation_p.G523S			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	523										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GAGCGGCGACCCGGCCGCTCG	0.637																																						uc003prs.2		NaN																	0				ovary(3)	3						c.(1567-1569)GGT>AGT		BEN domain containing 3							22.0	22.0	22.0					6																	107390828		2202	4299	6501	SO:0001583	missense	57673							g.chr6:107390828C>T	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1567G>A	6.37:g.107390828C>T	ENSP00000358038:p.Gly523Ser						p.G523S	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			5	2217	-			523					A2RRH2|Q9HCL9	Missense_Mutation	SNP	ENST00000369042.1	37	c.1567G>A	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805401	0.31961	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.06	5.06	0.68205	.	0.115093	0.64402	D	0.000017	T	0.29817	0.0745	L	0.27053	0.805	0.41857	D	0.9902	P	0.43094	0.799	B	0.36845	0.234	T	0.30909	-0.9962	9	0.56958	D	0.05	-47.313	18.6025	0.91253	0.0:1.0:0.0:0.0	.	523	Q5T5X7	BEND3_HUMAN	S	523	.	ENSP00000358038:G523S	G	-	1	0	BEND3	107497521	0.931000	0.31567	0.946000	0.38457	0.089000	0.18198	2.671000	0.46842	2.625000	0.88918	0.561000	0.74099	GGT		0.637	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1		NM_020913		26	9	0	0	0	0.005443	0	26	9		
REV3L	5980	broad.mit.edu	37	6	111714085	111714085	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:111714085A>G	ENST00000358835.3	-	6	1110	c.656T>C	c.(655-657)aTa>aCa	p.I219T	REV3L_ENST00000435970.1_Missense_Mutation_p.I141T|REV3L_ENST00000368802.3_Missense_Mutation_p.I219T|REV3L_ENST00000368805.1_Missense_Mutation_p.I219T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	219					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAACCTTGGTATTTCATCTTG	0.313								DNA polymerases (catalytic subunits)																														uc003puy.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(655-657)ATA>ACA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							68.0	68.0	68.0					6																	111714085		2203	4298	6501	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111714085A>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.656T>C	6.37:g.111714085A>G	ENSP00000351697:p.Ile219Thr					REV3L_uc003pux.3_Missense_Mutation_p.I141T|REV3L_uc003puz.3_Missense_Mutation_p.I141T	p.I219T	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	5	979	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	219					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.656T>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	22.4	4.283191	0.80803	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01981	4.62;4.62;4.62;4.52	5.27	5.27	0.74061	Ribonuclease H-like (1);	34.876800	0.00166	N	0.000000	T	0.09158	0.0226	M	0.74647	2.275	0.38453	D	0.947012	D	0.71674	0.998	D	0.76071	0.987	T	0.00128	-1.2017	10	0.51188	T	0.08	.	15.1917	0.73049	1.0:0.0:0.0:0.0	.	219	O60673	DPOLZ_HUMAN	T	219;219;219;141	ENSP00000357792:I219T;ENSP00000357795:I219T;ENSP00000351697:I219T;ENSP00000402003:I141T	ENSP00000351697:I219T	I	-	2	0	REV3L	111820778	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.128000	0.71650	2.002000	0.58637	0.455000	0.32223	ATA		0.313	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1		NM_002912		40	17	0	0	0	0.006999	0	40	17		
NCOA7	135112	broad.mit.edu	37	6	126236524	126236524	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:126236524C>G	ENST00000368357.3	+	12	2494	c.2142C>G	c.(2140-2142)gtC>gtG	p.V714V	NCOA7_ENST00000229634.9_Silent_p.V599V|NCOA7_ENST00000392477.2_Silent_p.V714V	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	714					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CTCCCGATGTCTATGGAAAAG	0.453																																						uc010kes.2		NaN																	0				lung(2)|ovary(1)	3						c.(2140-2142)GTC>GTG		nuclear receptor coactivator 7 isoform 1							200.0	170.0	180.0					6																	126236524		2203	4300	6503	SO:0001819	synonymous_variant	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126236524C>G	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2142C>G	6.37:g.126236524C>G						NCOA7_uc003qae.3_Silent_p.V714V|NCOA7_uc003qah.2_Silent_p.V703V|NCOA7_uc003qai.2_Silent_p.V714V|NCOA7_uc010ket.2_Silent_p.V599V	p.V714V	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	13	2591	+			714					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Silent	SNP	ENST00000368357.3	37	c.2142C>G	CCDS5132.1																																																																																				0.453	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4		XM_059748		81	28	0	0	0	0.01441	0	81	28		
TMEM181	57583	broad.mit.edu	37	6	159052852	159052852	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:159052852G>A	ENST00000367090.3	+	17	1782	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	591					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GAGTGACTATGAGGAAATGCC	0.537																																						uc003qrm.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1771-1773)GAG>AAG		G protein-coupled receptor 178							30.0	35.0	33.0					6																	159052852		2137	4241	6378	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:159052852G>A	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.1771G>A	6.37:g.159052852G>A	ENSP00000356057:p.Glu591Lys						p.E591K	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	17	1782	+		Breast(66;0.000776)|Ovarian(120;0.0303)	591					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.1771G>A	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	G	36	5.964971	0.97151	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.71286	-0.4638	9	0.87932	D	0	.	20.248	0.98401	0.0:0.0:1.0:0.0	.	591	Q9P2C4	TM181_HUMAN	K	498;591	.	ENSP00000323755:E498K	E	+	1	0	TMEM181	158972840	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.361000	0.97122	2.790000	0.95986	0.655000	0.94253	GAG		0.537	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1		NM_020823		6	4	0	0	0	0.001168	0	6	4		
FNDC1	84624	broad.mit.edu	37	6	159657323	159657323	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr6:159657323C>G	ENST00000297267.9	+	12	4244	c.4044C>G	c.(4042-4044)atC>atG	p.I1348M	FNDC1_ENST00000340366.6_Missense_Mutation_p.I1285M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1348					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGAGAATTATCAATGGCCCTC	0.393																																						uc010kjv.2		NaN																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(4042-4044)ATC>ATG		fibronectin type III domain containing 1							88.0	86.0	86.0					6																	159657323		1850	4092	5942	SO:0001583	missense	84624					extracellular region		g.chr6:159657323C>G	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4044C>G	6.37:g.159657323C>G	ENSP00000297267:p.Ile1348Met					FNDC1_uc010kjw.1_Missense_Mutation_p.I1233M	p.I1348M	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	12	4244	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1348					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.4044C>G	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.92|13.92	2.381054|2.381054	0.42207|0.42207	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.22134|.	1.97;2.79|.	5.09|5.09	3.29|3.29	0.37713|0.37713	.|.	0.117279|.	0.64402|.	D|.	0.000020|.	T|T	0.48642|0.48642	0.1511|0.1511	M|M	0.67953|0.67953	2.075|2.075	0.46241|0.46241	D|D	0.998944|0.998944	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.48293|0.48293	-0.9048|-0.9048	10|5	0.54805|.	T|.	0.06|.	-28.0913|-28.0913	7.5674|7.5674	0.27887|0.27887	0.1338:0.7209:0.0:0.1453|0.1338:0.7209:0.0:0.1453	.|.	1285;1348|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	M|E	1348;1285|1244	ENSP00000297267:I1348M;ENSP00000342460:I1285M|.	ENSP00000297267:I1348M|.	I|Q	+|+	3|1	3|0	FNDC1|FNDC1	159577313|159577313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.250000|1.250000	0.32850|0.32850	0.627000|0.627000	0.30340|0.30340	0.655000|0.655000	0.94253|0.94253	ATC|CAA		0.393	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3		NM_032532		16	19	0	0	0	0.004007	0	16	19		
FBXL18	80028	broad.mit.edu	37	7	5529800	5529800	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:5529800A>T	ENST00000453700.3	-	5	2161	c.2044T>A	c.(2044-2046)Ttg>Atg	p.L682M	FBXL18_ENST00000382368.3_Intron			Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	682									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TCTTCTCGCAACTCTGTGAAC	0.647																																						uc003soo.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(2044-2046)TTG>ATG		F-box and leucine-rich repeat protein 18							29.0	28.0	28.0					7																	5529800		876	1991	2867	SO:0001583	missense	80028							g.chr7:5529800A>T	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000453700.3:c.2044T>A	7.37:g.5529800A>T	ENSP00000444797:p.Leu682Met					FBXL18_uc003son.3_Intron	p.L682M	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	5	2138	-		Ovarian(82;0.0607)	682					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000453700.3	37	c.2044T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.084|9.084	0.999938|0.999938	0.19121|0.19121	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000312577;ENST00000453700|ENST00000458142	T|.	0.52526|.	0.66|.	1.85|1.85	0.692|0.692	0.18050|0.18050	.|.	0.489241|.	0.19471|.	N|.	0.113454|.	T|T	0.23410|0.23410	0.0566|0.0566	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|.	0.38148|.	0.62|.	B|.	0.29598|.	0.104|.	T|T	0.23476|0.23476	-1.0187|-1.0187	9|4	0.87932|.	D|.	0|.	.|.	3.5187|3.5187	0.07734|0.07734	0.7894:0.0:0.2106:0.0|0.7894:0.0:0.2106:0.0	.|.	682|.	F5H4Z4|.	.|.	M|R	682|565	ENSP00000444797:L682M|.	ENSP00000311990:L682M|.	L|S	-|-	1|3	2|2	FBXL18|FBXL18	5496326|5496326	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.083000|0.083000	0.17756|0.17756	0.531000|0.531000	0.23052|0.23052	0.213000|0.213000	0.20722|0.20722	0.482000|0.482000	0.46254|0.46254	TTG|AGT		0.647	FBXL18-201	KNOWN	basic	protein_coding	protein_coding			NM_024963		16	24	0	0	0	0.00499	0	16	24		
ICA1	3382	broad.mit.edu	37	7	8198209	8198209	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:8198209A>T	ENST00000402384.3	-	7	919	c.653T>A	c.(652-654)cTt>cAt	p.L218H	ICA1_ENST00000265577.7_Missense_Mutation_p.L217H|ICA1_ENST00000422063.2_Missense_Mutation_p.L218H|ICA1_ENST00000407906.1_Missense_Mutation_p.L218H|ICA1_ENST00000396675.3_Missense_Mutation_p.L218H|ICA1_ENST00000401396.1_Missense_Mutation_p.L206H|ICA1_ENST00000406470.2_Missense_Mutation_p.L218H			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	218	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CGCTCCAAGAAGATCCACTTT	0.373																																						uc003srm.2		NaN																	0		p.L218F(1)		central_nervous_system(1)	1						c.(652-654)CTT>CAT		islet cell autoantigen 1							156.0	137.0	143.0					7																	8198209		2203	4300	6503	SO:0001583	missense	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8198209A>T		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.653T>A	7.37:g.8198209A>T	ENSP00000385570:p.Leu218His					ICA1_uc010ktr.2_Missense_Mutation_p.L218H|ICA1_uc003srl.2_Missense_Mutation_p.L206H|ICA1_uc003srn.3_Missense_Mutation_p.L144H|ICA1_uc003srp.3_Missense_Mutation_p.L217H|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.L218H|ICA1_uc003srr.2_Missense_Mutation_p.L217H|ICA1_uc003sro.3_Missense_Mutation_p.L218H|ICA1_uc011jxg.1_Missense_Mutation_p.L218H|ICA1_uc003srs.1_Missense_Mutation_p.L218H	p.L218H	NM_022307	NP_071682	Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	7	720	-		Ovarian(82;0.0612)	218			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	ENST00000402384.3	37	c.653T>A	CCDS34602.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498450	0.85069	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063;ENST00000407906;ENST00000317367	D;D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.09	5.09	0.68999	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.93831	0.8027	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.94754	0.7930	10	0.87932	D	0	-11.7369	15.3373	0.74266	1.0:0.0:0.0:0.0	.	218;218;217;206;218;206	B3FTQ2;E7ENI6;Q96HG3;B9ZVM7;Q05084;E9PDL4	.;.;.;.;ICA69_HUMAN;.	H	218;218;217;218;206;218;218;206	ENSP00000385570:L218H;ENSP00000385651:L218H;ENSP00000265577:L217H;ENSP00000379908:L218H;ENSP00000385305:L206H;ENSP00000403982:L218H;ENSP00000386021:L218H;ENSP00000316074:L206H	ENSP00000265577:L217H	L	-	2	0	ICA1	8164734	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.938000	0.92943	2.279000	0.76181	0.459000	0.35465	CTT		0.373	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1		NM_004968		58	80	0	0	0	0.01441	0	58	80		
ISPD	729920	broad.mit.edu	37	7	16415851	16415851	+	Nonsense_Mutation	SNP	G	G	A	rs370499190		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:16415851G>A	ENST00000407010.2	-	3	549	c.550C>T	c.(550-552)Cga>Tga	p.R184*	ISPD_ENST00000399310.3_Intron	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	184					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						ACAAGAGGTCGAATGGCTCCT	0.433										Multiple Myeloma(15;0.18)																												uc010ktx.2		NaN																	0				ovary(1)	1						c.(550-552)CGA>TGA		notch1-induced protein isoform a							70.0	68.0	69.0					7																	16415851		1926	4128	6054	SO:0001587	stop_gained	729920				isoprenoid biosynthetic process		nucleotidyltransferase activity	g.chr7:16415851G>A	AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"""notch1-induced protein"", ""4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"""	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.550C>T	7.37:g.16415851G>A	ENSP00000385478:p.Arg184*	Multiple Myeloma(15;0.18)				ISPD_uc010kty.2_Intron	p.R184*	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN			3	550	-			184					A8MU35|H9KVB2	Nonsense_Mutation	SNP	ENST00000407010.2	37	c.550C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.425854	0.97555	.	.	ENSG00000214960	ENST00000407010	.	.	.	5.38	3.53	0.40419	.	0.000000	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-16.9242	14.6401	0.68717	0.0:0.0:0.7339:0.2661	.	.	.	.	X	184	.	ENSP00000385478:R184X	R	-	1	2	ISPD	16382376	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.067000	0.41461	0.705000	0.31890	0.650000	0.86243	CGA		0.433	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000326252.4		NM_001101426		8	47	0	0	0	0.008291	0	8	47		
NFE2L3	9603	broad.mit.edu	37	7	26225326	26225326	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:26225326G>A	ENST00000056233.3	+	4	2267	c.2008G>A	c.(2008-2010)Gga>Aga	p.G670R		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	670					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TACCCATGATGGAAGTATCTT	0.423																																						uc003sxq.2		NaN																	0				skin(3)|ovary(1)	4						c.(2008-2010)GGA>AGA		nuclear factor erythroid 2-like 3							72.0	73.0	72.0					7																	26225326		2203	4298	6501	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225326G>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.2008G>A	7.37:g.26225326G>A	ENSP00000056233:p.Gly670Arg						p.G670R	NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN			4	2280	+			670					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.2008G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671378	0.67814	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.72051	-0.62	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.87489	0.6190	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88967	0.3398	10	0.87932	D	0	-11.5729	19.6091	0.95594	0.0:0.0:1.0:0.0	.	670	Q9Y4A8	NF2L3_HUMAN	R	670;375	ENSP00000056233:G670R	ENSP00000056233:G670R	G	+	1	0	NFE2L3	26191851	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	7.683000	0.84093	2.738000	0.93877	0.591000	0.81541	GGA		0.423	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1				56	88	0	0	0	0.01441	0	56	88		
AKAP9	10142	broad.mit.edu	37	7	91712680	91712680	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:91712680T>G	ENST00000359028.2	+	34	8618	c.8393T>G	c.(8392-8394)cTg>cGg	p.L2798R	AKAP9_ENST00000356239.3_Missense_Mutation_p.L2786R|AKAP9_ENST00000358100.2_Missense_Mutation_p.L2798R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2798					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GATGGGACTCTGAAGATCAGT	0.393			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(8356-8358)CTG>CGG		A-kinase anchor protein 9 isoform 2							81.0	79.0	80.0					7																	91712680		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91712680T>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8393T>G	7.37:g.91712680T>G	ENSP00000351922:p.Leu2798Arg					AKAP9_uc003ulf.2_Missense_Mutation_p.L2778R|AKAP9_uc003uli.2_Missense_Mutation_p.L2409R|AKAP9_uc003ulj.2_Missense_Mutation_p.L556R|AKAP9_uc003ulk.2_Missense_Mutation_p.L61R	p.L2786R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		33	8582	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2798					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.8357T>G		.	.	.	.	.	.	.	.	.	.	T	5.926	0.354973	0.11239	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	4.8	2.37	0.29283	.	2.198660	0.02489	N	0.089244	T	0.45597	0.1350	L	0.51422	1.61	0.09310	N	1	P;P;B;P;P	0.49090	0.919;0.571;0.435;0.571;0.571	B;B;B;B;B	0.42422	0.387;0.238;0.102;0.206;0.206	T	0.26710	-1.0095	10	0.40728	T	0.16	.	6.214	0.20646	0.2807:0.0:0.1463:0.573	.	2790;2790;2798;2786;2778	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	R	2786;2798;2798;2790;632	ENSP00000348573:L2786R;ENSP00000351922:L2798R;ENSP00000350813:L2798R;ENSP00000378042:L632R	ENSP00000348573:L2786R	L	+	2	0	AKAP9	91550616	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	0.362000	0.20284	0.325000	0.23359	0.482000	0.46254	CTG		0.393	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		37	54	0	0	0	0.004878	0	37	54		
PEX1	5189	broad.mit.edu	37	7	92118691	92118691	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:92118691G>A	ENST00000248633.4	-	23	3778	c.3683C>T	c.(3682-3684)gCt>gTt	p.A1228V	AC007566.10_ENST00000427458.1_RNA|PEX1_ENST00000438045.1_Missense_Mutation_p.A906V|PEX1_ENST00000428214.1_Missense_Mutation_p.A1171V|AC007566.10_ENST00000441539.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1228					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTGACTAATAGCCAGTCTGGT	0.363																																						uc003uly.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3682-3684)GCT>GTT		peroxin1							167.0	135.0	146.0					7																	92118691		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92118691G>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3683C>T	7.37:g.92118691G>A	ENSP00000248633:p.Ala1228Val					PEX1_uc011khr.1_Missense_Mutation_p.A1020V|PEX1_uc010ley.2_Missense_Mutation_p.A1171V|PEX1_uc011khs.1_Missense_Mutation_p.A906V	p.A1228V	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		23	3779	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	1228					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.3683C>T	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	1.916	-0.449522	0.04572	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.94417	-3.36;-3.37;-3.42	5.32	3.43	0.39272	.	0.501990	0.21098	N	0.080205	D	0.86723	0.6001	L	0.41236	1.265	0.09310	N	0.999998	B;B;B	0.30406	0.04;0.278;0.278	B;B;B	0.21360	0.012;0.034;0.034	T	0.72469	-0.4284	10	0.12103	T	0.63	-5.9779	3.4905	0.07636	0.1381:0.1446:0.5685:0.1488	.	906;1020;1228	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	V	906;1228;1171	ENSP00000410438:A906V;ENSP00000248633:A1228V;ENSP00000394413:A1171V	ENSP00000248633:A1228V	A	-	2	0	PEX1	91956627	0.802000	0.28943	0.415000	0.26534	0.722000	0.41435	2.861000	0.48380	1.307000	0.44944	0.655000	0.94253	GCT		0.363	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3		NM_000466		18	24	0	0	0	0.00499	0	18	24		
TRRAP	8295	broad.mit.edu	37	7	98495469	98495469	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:98495469G>C	ENST00000359863.4	+	8	822	c.613G>C	c.(613-615)Gag>Cag	p.E205Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.E205Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.E205Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	205					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCGGAGCGTGAGGACAGTGA	0.468																																						uc003upp.2		NaN																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(613-615)GAG>CAG		transformation/transcription domain-associated							168.0	152.0	157.0					7																	98495469		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98495469G>C	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.613G>C	7.37:g.98495469G>C	ENSP00000352925:p.Glu205Gln					TRRAP_uc011kis.1_Missense_Mutation_p.E205Q|TRRAP_uc003upr.2_5'Flank	p.E205Q	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		8	822	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		205					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.613G>C	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267165	0.59540	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02863	4.13;4.13	5.58	5.58	0.84498	Armadillo-type fold (1);	0.133482	0.49305	D	0.000152	T	0.03434	0.0099	N	0.22421	0.69	0.80722	D	1	B;B	0.23185	0.081;0.048	B;B	0.28139	0.086;0.039	T	0.57613	-0.7781	10	0.15952	T	0.53	.	19.5633	0.95382	0.0:0.0:1.0:0.0	.	205;205	Q9Y4A5-2;Q9Y4A5	.;TRRAP_HUMAN	Q	205	ENSP00000352925:E205Q;ENSP00000347733:E205Q	ENSP00000347733:E205Q	E	+	1	0	TRRAP	98333405	1.000000	0.71417	0.973000	0.42090	0.980000	0.70556	9.765000	0.98953	2.650000	0.89964	0.591000	0.81541	GAG		0.468	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1		NM_003496		23	118	0	0	0	0.016522	0	23	118		
SYPL1	6856	broad.mit.edu	37	7	105752637	105752637	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:105752637G>A	ENST00000011473.2	-	2	118	c.72C>T	c.(70-72)atC>atT	p.I24I	SYPL1_ENST00000470347.1_Silent_p.I6I|SYPL1_ENST00000455385.2_Silent_p.I6I	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	24					synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						GGTTGAGGTTGATCTGGAAGC	0.692																																						uc003vdp.2		NaN																	0					0						c.(70-72)ATC>ATT		synaptophysin-like 1 isoform a							44.0	44.0	44.0					7																	105752637		2203	4300	6503	SO:0001819	synonymous_variant	6856				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity	g.chr7:105752637G>A		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"""synaptophysin-like protein"""	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.72C>T	7.37:g.105752637G>A						SYPL1_uc003vdo.2_Silent_p.I6I	p.I24I	NM_006754	NP_006745	Q16563	SYPL1_HUMAN			2	154	-			24			Cytoplasmic (Potential).		A4D0R2|Q96AR8	Silent	SNP	ENST00000011473.2	37	c.72C>T	CCDS5736.1																																																																																				0.692	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1				10	13	0	0	0	0.013537	0	10	13		
COG5	10466	broad.mit.edu	37	7	107194757	107194757	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:107194757G>C	ENST00000347053.3	-	3	408	c.358C>G	c.(358-360)Caa>Gaa	p.Q120E	COG5_ENST00000393603.2_Missense_Mutation_p.Q120E|COG5_ENST00000297135.3_Missense_Mutation_p.Q120E	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	120					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCAGTTGCTTGTGCCAGTAAA	0.378																																						uc003ved.2		NaN																	0				central_nervous_system(2)|skin(2)	4						c.(358-360)CAA>GAA		component of oligomeric golgi complex 5 isoform							104.0	92.0	96.0					7																	107194757		2203	4300	6503	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107194757G>C	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.358C>G	7.37:g.107194757G>C	ENSP00000334703:p.Gln120Glu					COG5_uc003vec.2_Missense_Mutation_p.Q120E|COG5_uc003vee.2_Missense_Mutation_p.Q120E	p.Q120E	NM_181733	NP_859422	Q9UP83	COG5_HUMAN			3	883	-			120					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.358C>G	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759081	0.89843	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.24350	1.92;1.89;1.86	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.55273	0.1910	M	0.85041	2.73	0.80722	D	1	D;D	0.71674	0.998;0.995	D;P	0.65573	0.936;0.879	T	0.58137	-0.7689	10	0.41790	T	0.15	-9.3888	18.6409	0.91396	0.0:0.0:1.0:0.0	.	120;120	Q9UP83;Q9UP83-2	COG5_HUMAN;.	E	120	ENSP00000334703:Q120E;ENSP00000297135:Q120E;ENSP00000377228:Q120E	ENSP00000297135:Q120E	Q	-	1	0	COG5	106981993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.169000	0.94788	2.487000	0.83934	0.555000	0.69702	CAA		0.378	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4				20	27	0	0	0	0.012319	0	20	27		
UBE3C	9690	broad.mit.edu	37	7	156979626	156979626	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:156979626G>T	ENST00000348165.5	+	10	1602	c.1242G>T	c.(1240-1242)agG>agT	p.R414S	UBE3C_ENST00000389103.4_Missense_Mutation_p.R371S	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	414					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGGTGTGGAGGGACTCTGCGA	0.562																																						uc010lqs.2		NaN																	0				ovary(2)|lung(2)|large_intestine(1)	5						c.(1240-1242)AGG>AGT		ubiquitin protein ligase E3C							133.0	91.0	105.0					7																	156979626		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156979626G>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1242G>T	7.37:g.156979626G>T	ENSP00000309198:p.Arg414Ser					UBE3C_uc003wnf.2_Missense_Mutation_p.R371S|UBE3C_uc003wng.2_Missense_Mutation_p.R414S	p.R414S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	10	1554	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	414					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.1242G>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640353	0.47153	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.43294	0.95	5.66	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	M	0.67953	2.075	0.80722	D	1	P;D;D	0.71674	0.846;0.993;0.998	B;P;D	0.70487	0.283;0.806;0.969	T	0.57260	-0.7842	10	0.07030	T	0.85	.	8.8557	0.35227	0.2361:0.0:0.7639:0.0	.	414;414;371	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	S	414;371	ENSP00000309198:R414S	ENSP00000309198:R414S	R	+	3	2	UBE3C	156672387	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	3.547000	0.53663	1.403000	0.46800	-0.136000	0.14681	AGG		0.562	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1		NM_014671		4	46	1	0	0.00909568	0.009096	0.00914631	4	46		
PPP1R3B	79660	broad.mit.edu	37	8	8998903	8998903	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:8998903C>G	ENST00000310455.3	-	2	409	c.259G>C	c.(259-261)Gat>Cat	p.D87H	RP11-10A14.3_ENST00000520017.1_RNA|RP11-10A14.3_ENST00000522057.1_RNA|PPP1R3B_ENST00000519699.1_Missense_Mutation_p.D87H	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	87					glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AATGGCATATCTAGCGGGTCA	0.517																																						uc003wsn.3		NaN																	0				ovary(1)|skin(1)	2						c.(259-261)GAT>CAT		protein phosphatase 1, regulatory (inhibitor)							116.0	109.0	112.0					8																	8998903		2203	4300	6503	SO:0001583	missense	79660				glycogen metabolic process			g.chr8:8998903C>G	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.259G>C	8.37:g.8998903C>G	ENSP00000308318:p.Asp87His					PPP1R3B_uc003wso.3_Missense_Mutation_p.D86H	p.D87H	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	424	-			87					B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	c.259G>C	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881571	0.72294	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.47528	0.84;0.84	5.68	5.68	0.88126	.	0.142496	0.64402	D	0.000008	T	0.68696	0.3029	M	0.79258	2.445	0.58432	D	0.999996	D	0.71674	0.998	D	0.62955	0.909	T	0.68868	-0.5295	10	0.46703	T	0.11	-24.5044	18.7812	0.91933	0.0:1.0:0.0:0.0	.	87	Q86XI6	PPR3B_HUMAN	H	87	ENSP00000308318:D87H;ENSP00000428642:D87H	ENSP00000308318:D87H	D	-	1	0	PPP1R3B	9036313	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	4.017000	0.57167	2.678000	0.91216	0.561000	0.74099	GAT		0.517	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1		NM_024607		36	66	0	0	0	0.004878	0	36	66		
PPP3CC	5533	broad.mit.edu	37	8	22355531	22355531	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:22355531G>T	ENST00000240139.5	+	4	717	c.390G>T	c.(388-390)tgG>tgT	p.W130C	PPP3CC_ENST00000289963.8_Missense_Mutation_p.W130C|PPP3CC_ENST00000518852.1_Missense_Mutation_p.W130C|PPP3CC_ENST00000397775.3_Missense_Mutation_p.W130C	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	130					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTATTTATGGAGTTTAAAGA	0.318																																						uc003xbs.2		NaN																	0				ovary(1)	1						c.(388-390)TGG>TGT		protein phosphatase 3, catalytic subunit, gamma							145.0	134.0	137.0					8																	22355531		2203	4299	6502	SO:0001583	missense	5533				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	g.chr8:22355531G>T		CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9316	protein-coding gene	gene with protein product	"""calcineurin A gamma"", ""protein phosphatase 2B, catalytic subunit, gamma isoform"""	114107	"""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"""			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.390G>T	8.37:g.22355531G>T	ENSP00000240139:p.Trp130Cys					PPP3CC_uc003xbr.1_Missense_Mutation_p.W130C|PPP3CC_uc011kzi.1_Missense_Mutation_p.W130C|PPP3CC_uc003xbt.2_Missense_Mutation_p.W130C	p.W130C	NM_005605	NP_005596	P48454	PP2BC_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)	4	717	+		Prostate(55;0.104)	130					B4DRT5|Q9BSS6|Q9H4M5	Missense_Mutation	SNP	ENST00000240139.5	37	c.390G>T	CCDS34859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.261031|4.261031	0.80246|0.80246	.|.	.|.	ENSG00000120910|ENSG00000120910	ENST00000521651|ENST00000518852;ENST00000240139;ENST00000289963;ENST00000397775	.|T;T;T;T	.|0.05382	.|3.45;3.45;3.45;3.45	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.27594|0.27594	0.0678|0.0678	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|D;D;D;P	.|0.89917	.|1.0;1.0;1.0;0.753	.|D;D;D;B	.|0.79108	.|0.986;0.982;0.992;0.311	T|T	0.00171|0.00171	-1.1960|-1.1960	5|10	.|0.87932	.|D	.|0	-15.1473|-15.1473	18.8935|18.8935	0.92414|0.92414	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|130;130;130;130	.|B4DRT5;P48454-2;P48454;G3V111	.|.;.;PP2BC_HUMAN;.	V|C	7|130	.|ENSP00000429379:W130C;ENSP00000240139:W130C;ENSP00000289963:W130C;ENSP00000380878:W130C	.|ENSP00000240139:W130C	G|W	+|+	2|3	0|0	PPP3CC|PPP3CC	22411476|22411476	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.415000|9.415000	0.97375|0.97375	2.754000|2.754000	0.94517|0.94517	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.318	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375652.1		NM_005605		13	23	1	0	1.49906e-05	0.00245	1.54466e-05	13	23		
FGFR1	2260	broad.mit.edu	37	8	38279401	38279401	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:38279401G>A	ENST00000447712.2	-	8	1936	c.995C>T	c.(994-996)tCc>tTc	p.S332F	FGFR1_ENST00000326324.6_Missense_Mutation_p.S241F|FGFR1_ENST00000356207.5_Missense_Mutation_p.S243F|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000397091.5_Missense_Mutation_p.S330F|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000425967.3_Missense_Mutation_p.S363F|FGFR1_ENST00000335922.5_Missense_Mutation_p.S324F|FGFR1_ENST00000532791.1_Missense_Mutation_p.S332F|FGFR1_ENST00000397108.4_Missense_Mutation_p.S330F|FGFR1_ENST00000397113.2_Missense_Mutation_p.S330F|RP11-350N15.4_ENST00000528407.1_RNA	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	332	Ig-like C2-type 3.		S -> C (in HH2). {ECO:0000269|PubMed:17154279}.		angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTCCTCAAAGGAGACATTTCT	0.488		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	uc003xlp.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	Pfeiffer syndrome|Kallman syndrome	L	BCR|FOP|ZNF198|CEP1		MPD|NHL		0				lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	GRCh37	CM070126	FGFR1	M		c.(994-996)TCC>TTC		fibroblast growth factor receptor 1 isoform 1	Palifermin(DB00039)						100.0	103.0	102.0					8																	38279401		2126	4279	6405	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38279401G>A	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.995C>T	8.37:g.38279401G>A	ENSP00000400162:p.Ser332Phe					FGFR1_uc011lbo.1_Missense_Mutation_p.S330F|FGFR1_uc011lbp.1_Missense_Mutation_p.S243F|FGFR1_uc011lbq.1_Missense_Mutation_p.S241F|FGFR1_uc010lwk.2_Missense_Mutation_p.S324F|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.S172F|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Missense_Mutation_p.S363F|FGFR1_uc011lbv.1_Missense_Mutation_p.S330F|FGFR1_uc011lbw.1_Missense_Mutation_p.S243F|FGFR1_uc011lbx.1_Missense_Mutation_p.S243F	p.S332F	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		8	1937	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	332		S -> C (in KAL2).	Ig-like C2-type 3.|Extracellular (Potential).		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.995C>T	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	31	5.085239	0.94100	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397108	T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.107181	0.64402	D	0.000003	T	0.73055	0.3538	L	0.28740	0.885	0.80722	D	1	D;P;P;P;P;D;D;P;P	0.54964	0.969;0.901;0.913;0.951;0.942;0.959;0.961;0.81;0.951	P;P;P;P;P;P;P;P;P	0.62885	0.638;0.784;0.789;0.894;0.784;0.857;0.908;0.506;0.851	T	0.76751	-0.2844	10	0.87932	D	0	.	18.6483	0.91419	0.0:0.0:1.0:0.0	.	243;243;330;363;241;243;332;324;332	B5A959;P11362-3;P11362-7;P11362-21;P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;.;.;.;.;FGFR1_HUMAN;.;.	F	330;363;332;332;332;330;243;324;241;330	ENSP00000380280:S330F;ENSP00000393312:S363F;ENSP00000400162:S332F;ENSP00000432972:S332F;ENSP00000380302:S330F;ENSP00000348537:S243F;ENSP00000337247:S324F;ENSP00000327229:S241F;ENSP00000380297:S330F	ENSP00000311337:S332F	S	-	2	0	FGFR1	38398558	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.426000	0.82243	0.467000	0.42956	TCC		0.488	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					9	37	0	0	0	0.004482	0	9	37		
PRKDC	5591	broad.mit.edu	37	8	48771464	48771464	+	Silent	SNP	C	C	T	rs562591745		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:48771464C>T	ENST00000314191.2	-	48	6344	c.6288G>A	c.(6286-6288)ctG>ctA	p.L2096L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L2096L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2097					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)	CCAGGGCCGTCAGGGGCGCCA	0.577								Non-homologous end-joining					C|||	1	0.000199681	0.0	0.0	5008	,	,		16403	0.0		0.0	False		,,,				2504	0.001				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.(6289-6291)CTG>CTA	NHEJ	protein kinase, DNA-activated, catalytic							65.0	69.0	68.0					8																	48771464		2155	4255	6410	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.chr8:48771464C>T		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.6288G>A	8.37:g.48771464C>T						PRKDC_uc003xqj.2_Silent_p.L2097L|PRKDC_uc011ldh.1_Intron	p.L2097L	NM_006904	NP_008835	P78527	PRKDC_HUMAN			48	6348	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2097					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.6291G>A																																																																																					0.577	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640		4	83	0	0	0	0.009096	0	4	83		
CHD7	55636	broad.mit.edu	37	8	61749497	61749497	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:61749497T>G	ENST00000423902.2	+	17	4590	c.4111T>G	c.(4111-4113)Tta>Gta	p.L1371V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1371	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)			GGCAGGAGGTTTAGGCATTAA	0.488																																						uc003xue.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(4111-4113)TTA>GTA		chromodomain helicase DNA binding protein 7							144.0	145.0	145.0					8																	61749497		2117	4266	6383	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.chr8:61749497T>G	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.4111T>G	8.37:g.61749497T>G	ENSP00000392028:p.Leu1371Val						p.L1371V	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		17	4588	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1371			Helicase C-terminal.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.4111T>G	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.531570	0.64972	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.74947	-0.89	5.93	0.952	0.19584	Helicase, C-terminal (3);	0.087662	0.45867	D	0.000336	T	0.64670	0.2619	N	0.04805	-0.155	0.47037	D	0.999295	P	0.45428	0.858	P	0.56563	0.801	T	0.65368	-0.6185	10	0.87932	D	0	-8.3837	9.2576	0.37593	0.0:0.3476:0.0:0.6524	.	1371	Q9P2D1	CHD7_HUMAN	V	1371	ENSP00000392028:L1371V	ENSP00000307304:L1371V	L	+	1	2	CHD7	61912051	0.653000	0.27358	0.088000	0.20740	0.982000	0.71751	1.145000	0.31577	-0.050000	0.13356	0.533000	0.62120	TTA		0.488	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		33	95	0	0	0	0.010818	0	33	95		
UQCRB	7381	broad.mit.edu	37	8	97244136	97244136	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:97244136C>T	ENST00000287022.5	-	3	227	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	UQCRB_ENST00000518406.1_Missense_Mutation_p.E42K|UQCRB_ENST00000523920.1_Missense_Mutation_p.E42K|UQCRB_ENST00000517523.1_Missense_Mutation_p.E10K	NM_001199975.2|NM_006294.4	NP_001186904.1|NP_006285.1	P14927	QCR7_HUMAN	ubiquinol-cytochrome c reductase binding protein	42					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10	Breast(36;5.16e-05)					TTTACATCTTCATCCTCGTAT	0.363																																						uc003yhq.3		NaN																	0				ovary(1)	1						c.(124-126)GAA>AAA		ubiquinol-cytochrome c reductase binding							101.0	93.0	96.0					8																	97244136		2203	4300	6503	SO:0001583	missense	7381				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr8:97244136C>T	X13585	CCDS6269.1, CCDS59107.1	8q22	2011-07-04			ENSG00000156467	ENSG00000156467		"""Mitochondrial respiratory chain complex / Complex III"""	12582	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VI"", ""cytochrome b-c1 complex subunit 7"""	191330		UQBP		2167087, 2543413, 3056408	Standard	NM_006294		Approved	QP-C, QCR7, UQCR6	uc022ayx.1	P14927	OTTHUMG00000164711	ENST00000287022.5:c.124G>A	8.37:g.97244136C>T	ENSP00000287022:p.Glu42Lys					UQCRB_uc011lgt.1_RNA|UQCRB_uc010mbc.2_RNA	p.E42K	NM_006294	NP_006285	P14927	QCR7_HUMAN			3	228	-	Breast(36;5.16e-05)		42					E5RJU0|Q6FGD1	Missense_Mutation	SNP	ENST00000287022.5	37	c.124G>A	CCDS6269.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996295	0.35226	.	.	ENSG00000156467	ENST00000287022;ENST00000517523;ENST00000518406;ENST00000523920	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.4	5.4	0.78164	.	0.718854	0.14742	N	0.301090	T	0.41949	0.1181	L	0.44542	1.39	0.34583	D	0.714683	B	0.28258	0.205	B	0.32022	0.139	T	0.50775	-0.8788	10	0.38643	T	0.18	-7.7325	17.3502	0.87321	0.0:1.0:0.0:0.0	.	42	P14927	QCR7_HUMAN	K	42;10;42;42	ENSP00000287022:E42K;ENSP00000429787:E10K;ENSP00000430494:E42K;ENSP00000430560:E42K	ENSP00000287022:E42K	E	-	1	0	UQCRB	97313312	0.807000	0.29009	0.515000	0.27774	0.352000	0.29268	1.697000	0.37784	2.534000	0.85438	0.591000	0.81541	GAA		0.363	UQCRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379863.1		NM_006294		32	35	0	0	0	0.009535	0	32	35		
RIMS2	9699	broad.mit.edu	37	8	104897639	104897639	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:104897639C>G	ENST00000436393.2	+	2	387	c.146C>G	c.(145-147)tCa>tGa	p.S49*	RIMS2_ENST00000406091.3_Nonsense_Mutation_p.S271*|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.S79*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.S79*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	302	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGATCTCCATCAGATTATGCT	0.418										HNSCC(12;0.0054)																												uc003yls.2		NaN																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(145-147)TCA>TGA		regulating synaptic membrane exocytosis 2							101.0	92.0	95.0					8																	104897639		1889	4121	6010	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104897639C>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.146C>G	8.37:g.104897639C>G	ENSP00000390665:p.Ser49*	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Nonsense_Mutation_p.S271*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.S79*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.S79*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.S79*	p.S49*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	387	+			302					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.146C>G		.	.	.	.	.	.	.	.	.	.	C	29.3	4.993682	0.93167	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.9666	0.92698	0.0:1.0:0.0:0.0	.	.	.	.	X	271;302;271;302;79;79;79;79;49	.	ENSP00000262231:S79X	S	+	2	0	RIMS2	104966815	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.288000	0.78691	2.474000	0.83562	0.460000	0.39030	TCA		0.418	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1		NM_001100117		19	55	0	0	0	0.008871	0	19	55		
ADCY8	114	broad.mit.edu	37	8	131896844	131896844	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:131896844G>A	ENST00000286355.5	-	8	4167	c.2075C>T	c.(2074-2076)tCa>tTa	p.S692L	ADCY8_ENST00000377928.3_Missense_Mutation_p.S692L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	692					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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAACATCAGTGAGAATGGCTT	0.458										HNSCC(32;0.087)																												uc003ytd.3		NaN																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2074-2076)TCA>TTA		adenylate cyclase 8							122.0	120.0	121.0					8																	131896844		2203	4300	6503	SO:0001583	missense	114				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	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131896844G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2075C>T	8.37:g.131896844G>A	ENSP00000286355:p.Ser692Leu	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.S692L	p.S692L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		8	2331	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		692			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.2075C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432867	0.83776	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.74106	0.94;-0.81	5.98	5.98	0.97165	.	0.061993	0.64402	D	0.000002	T	0.70640	0.3247	N	0.03324	-0.35	0.54753	D	0.999982	D;P	0.62365	0.991;0.81	D;P	0.78314	0.991;0.498	T	0.67741	-0.5592	10	0.10111	T	0.7	.	19.5094	0.95135	0.0:0.0:1.0:0.0	.	692;692	E7EVL1;P40145	.;ADCY8_HUMAN	L	692	ENSP00000286355:S692L;ENSP00000367161:S692L	ENSP00000286355:S692L	S	-	2	0	ADCY8	131966026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.257000	0.95545	2.861000	0.98227	0.650000	0.86243	TCA		0.458	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1				47	71	0	0	0	0.013114	0	47	71		
PLEC	5339	broad.mit.edu	37	8	144992514	144992514	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:144992514C>G	ENST00000322810.4	-	32	12055	c.11886G>C	c.(11884-11886)caG>caC	p.Q3962H	PLEC_ENST00000356346.3_Missense_Mutation_p.Q3811H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q3793H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q3829H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q3852H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q3848H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q3803H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q3825H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q3825H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3962	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTAGCCACGCTGGTAAGCCA	0.682																																						uc003zaf.1		NaN																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(11884-11886)CAG>CAC		plectin isoform 1							15.0	21.0	19.0					8																	144992514		2051	4179	6230	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144992514C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11886G>C	8.37:g.144992514C>G	ENSP00000323856:p.Gln3962His					PLEC_uc003zab.1_Missense_Mutation_p.Q3825H|PLEC_uc003zac.1_Missense_Mutation_p.Q3829H|PLEC_uc003zad.2_Missense_Mutation_p.Q3825H|PLEC_uc003zae.1_Missense_Mutation_p.Q3793H|PLEC_uc003zag.1_Missense_Mutation_p.Q3803H|PLEC_uc003zah.2_Missense_Mutation_p.Q3811H|PLEC_uc003zaj.2_Missense_Mutation_p.Q3852H	p.Q3962H	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	12056	-			3962			Globular 2.|Plectin 20.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11886G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	5.207	0.223774	0.09863	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	3.78	-0.263	0.12954	.	0.000000	0.56097	U	0.000027	T	0.71651	0.3365	L	0.41415	1.275	0.43628	D	0.996019	D;D;D;D;D;D;D;D	0.55385	0.965;0.965;0.965;0.971;0.965;0.965;0.965;0.965	P;P;P;P;P;P;P;P	0.60345	0.799;0.799;0.799;0.873;0.799;0.799;0.799;0.799	T	0.65932	-0.6048	10	0.42905	T	0.14	.	4.992	0.14218	0.0:0.3073:0.1662:0.5265	.	3852;3811;3803;3962;3793;3825;3829;3825	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	3825;3829;3825;3793;3962;3803;3811;3852;3848	ENSP00000344848:Q3825H;ENSP00000350277:Q3829H;ENSP00000346602:Q3825H;ENSP00000381756:Q3793H;ENSP00000323856:Q3962H;ENSP00000347044:Q3803H;ENSP00000348702:Q3811H;ENSP00000388180:Q3852H;ENSP00000434583:Q3848H	ENSP00000323856:Q3962H	Q	-	3	2	PLEC	145064502	0.994000	0.37717	0.912000	0.35992	0.718000	0.41266	0.412000	0.21131	-0.186000	0.10533	0.297000	0.19635	CAG		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445		3	5	0	0	0	0.004672	0	3	5		
CYC1	1537	broad.mit.edu	37	8	145152190	145152190	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr8:145152190A>G	ENST00000318911.4	+	7	1002	c.929A>G	c.(928-930)aAg>aGg	p.K310R	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	310					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGCGGCACAAGTGGTCAGTC	0.582																																						uc003zaz.3		NaN																	0					0						c.(928-930)AAG>AGG		cytochrome c-1							124.0	102.0	109.0					8																	145152190		2203	4300	6503	SO:0001583	missense	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145152190A>G	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.929A>G	8.37:g.145152190A>G	ENSP00000317159:p.Lys310Arg					CYC1_uc003zay.2_Missense_Mutation_p.K251R	p.K310R	NM_001916	NP_001907	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	972	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		310					Q5U062|Q6FHS7	Missense_Mutation	SNP	ENST00000318911.4	37	c.929A>G	CCDS6415.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792437	0.31685	.	.	ENSG00000179091	ENST00000318911	T	0.31247	1.5	4.83	3.67	0.42095	Cytochrome c1, transmembrane anchor, C-terminal (2);	0.075854	0.56097	D	0.000037	T	0.20577	0.0495	L	0.33093	0.98	0.41414	D	0.987752	B	0.18610	0.029	B	0.21360	0.034	T	0.07102	-1.0790	10	0.35671	T	0.21	-18.1783	6.6291	0.22847	0.8932:0.0:0.1067:0.0	.	310	P08574	CY1_HUMAN	R	310	ENSP00000317159:K310R	ENSP00000317159:K310R	K	+	2	0	CYC1	145224178	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.958000	0.40402	1.958000	0.56883	0.459000	0.35465	AAG		0.582	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1		NM_001916		19	25	0	0	0	0.006122	0	19	25		
RANBP6	26953	broad.mit.edu	37	9	6014801	6014801	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:6014801C>T	ENST00000259569.5	-	1	817	c.807G>A	c.(805-807)ttG>ttA	p.L269L	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	269					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ACTTCAAACTCAACTGTAGAG	0.448																																						uc003zjr.2		NaN																	0				ovary(3)	3						c.(805-807)TTG>TTA		RAN binding protein 6							69.0	69.0	69.0					9																	6014801		2203	4300	6503	SO:0001819	synonymous_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6014801C>T	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.807G>A	9.37:g.6014801C>T						RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron	p.L269L	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	818	-		Acute lymphoblastic leukemia(23;0.158)	269					Q5T7X4|Q7Z3V2|Q96E78	Silent	SNP	ENST00000259569.5	37	c.807G>A	CCDS6467.1																																																																																				0.448	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1		NM_012416		37	59	0	0	0	0.017118	0	37	59		
KDM4C	23081	broad.mit.edu	37	9	6893118	6893118	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:6893118C>T	ENST00000381309.3	+	8	1372	c.807C>T	c.(805-807)ttC>ttT	p.F269F	KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000442236.2_Silent_p.F88F|KDM4C_ENST00000381306.3_Silent_p.F269F|KDM4C_ENST00000536108.1_Silent_p.F88F|KDM4C_ENST00000543771.1_Silent_p.F269F|KDM4C_ENST00000535193.1_Silent_p.F291F	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	269	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CTGGAGAATTCATGATCACTT	0.338																																						uc003zkh.2		NaN																	0				ovary(1)	1						c.(805-807)TTC>TTT		jumonji domain containing 2C isoform 1							102.0	102.0	102.0					9																	6893118		2203	4300	6503	SO:0001819	synonymous_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6893118C>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.807C>T	9.37:g.6893118C>T						KDM4C_uc010mhu.2_Silent_p.F291F|KDM4C_uc010mhw.2_Silent_p.F269F|KDM4C_uc011lmi.1_Silent_p.F269F|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.F269F|KDM4C_uc011lmk.1_Silent_p.F88F	p.F269F	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			8	1387	+			269			JmjC.		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	c.807C>T	CCDS6471.1																																																																																				0.338	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1		NM_015061		48	56	0	0	0	0.01441	0	48	56		
PTPRD	5789	broad.mit.edu	37	9	8460538	8460538	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:8460538C>T	ENST00000381196.4	-	30	4291	c.3748G>A	c.(3748-3750)Gtg>Atg	p.V1250M	PTPRD_ENST00000397611.3_Missense_Mutation_p.V836M|PTPRD_ENST00000486161.1_Missense_Mutation_p.V839M|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1237M|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1250M|PTPRD_ENST00000397617.3_Missense_Mutation_p.V829M|PTPRD_ENST00000397606.3_Missense_Mutation_p.V829M|PTPRD_ENST00000355233.5_Missense_Mutation_p.V839M|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1250M|PTPRD_ENST00000537002.1_Missense_Mutation_p.V836M|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1228M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1250					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTGACACCACGGGGTCGGAG	0.433										TSP Lung(15;0.13)																												uc003zkk.2		NaN																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3748-3750)GTG>ATG		protein tyrosine phosphatase, receptor type, D							128.0	116.0	120.0					9																	8460538		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8460538C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3748G>A	9.37:g.8460538C>T	ENSP00000370593:p.Val1250Met	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.V839M|PTPRD_uc003zkq.2_Missense_Mutation_p.V839M|PTPRD_uc003zkr.2_Missense_Mutation_p.V834M|PTPRD_uc003zks.2_Missense_Mutation_p.V829M|PTPRD_uc003zkl.2_Missense_Mutation_p.V1241M|PTPRD_uc003zkm.2_Missense_Mutation_p.V1237M|PTPRD_uc003zkn.2_Missense_Mutation_p.V839M|PTPRD_uc003zko.2_Missense_Mutation_p.V836M	p.V1250M	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	32	4459	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1250			Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3748G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294788	0.81025	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.89	5.89	0.94794	.	0.116139	0.56097	D	0.000025	T	0.56834	0.2012	L	0.41079	1.255	0.54753	D	0.999987	P;D;D;D;B;D;B;B;P	0.61697	0.865;0.983;0.983;0.983;0.178;0.99;0.219;0.162;0.886	B;P;P;P;B;P;B;B;P	0.51193	0.226;0.461;0.461;0.461;0.203;0.662;0.078;0.037;0.454	T	0.50276	-0.8847	9	.	.	.	.	19.8631	0.96790	0.0:1.0:0.0:0.0	.	829;834;839;839;836;836;1237;1250;1250	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	M	1250;1250;1237;1228;839;829;836;836;721;1250;839;829	ENSP00000370593:V1250M;ENSP00000348812:V1250M;ENSP00000353187:V1237M;ENSP00000351293:V1228M;ENSP00000347373:V839M;ENSP00000380741:V829M;ENSP00000380735:V836M;ENSP00000440515:V836M;ENSP00000438164:V1250M;ENSP00000417093:V839M;ENSP00000380731:V829M	.	V	-	1	0	PTPRD	8450538	1.000000	0.71417	0.993000	0.49108	0.695000	0.40330	7.463000	0.80869	2.788000	0.95919	0.557000	0.71058	GTG		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3				20	37	0	0	0	0.012319	0	20	37		
MPDZ	8777	broad.mit.edu	37	9	13109990	13109990	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:13109990G>C	ENST00000319217.7	-	45	6150	c.5903C>G	c.(5902-5904)aCt>aGt	p.T1968S	MPDZ_ENST00000538841.1_Missense_Mutation_p.T827S|MPDZ_ENST00000541093.1_Missense_Mutation_p.T202S|MPDZ_ENST00000541718.1_Missense_Mutation_p.T1939S|MPDZ_ENST00000381022.2_Missense_Mutation_p.T1939S|MPDZ_ENST00000447879.1_Missense_Mutation_p.T1935S|MPDZ_ENST00000381015.4_Missense_Mutation_p.T1968S|MPDZ_ENST00000536827.1_Missense_Mutation_p.T1906S|MPDZ_ENST00000546205.1_Missense_Mutation_p.T1982S	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1968					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGTCAGCCCAGTGAAAGAAAG	0.453																																						uc010mhy.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(5815-5817)ACT>AGT		multiple PDZ domain protein							73.0	74.0	73.0					9																	13109990		1986	4167	6153	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13109990G>C	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.5903C>G	9.37:g.13109990G>C	ENSP00000320006:p.Thr1968Ser					MPDZ_uc003zkx.3_Missense_Mutation_p.T163S|MPDZ_uc003zky.3_Missense_Mutation_p.T502S|MPDZ_uc010mib.2_Missense_Mutation_p.T673S|MPDZ_uc010mhx.2_Missense_Mutation_p.T790S|MPDZ_uc011lmm.1_Missense_Mutation_p.T827S|MPDZ_uc003zkz.3_Missense_Mutation_p.T661S|MPDZ_uc010mhz.2_Missense_Mutation_p.T1935S|MPDZ_uc011lmn.1_Missense_Mutation_p.T1906S|MPDZ_uc003zlb.3_Missense_Mutation_p.T1939S	p.T1939S	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	43	5867	-			1968					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.5816C>G		.	.	.	.	.	.	.	.	.	.	G	4.441	0.081575	0.08533	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.83	3.84	0.44239	PDZ/DHR/GLGF (1);	0.295501	0.24122	N	0.041357	T	0.18964	0.0455	N	0.12182	0.205	0.33162	D	0.547059	B;B;B;B;B;B;B;B	0.15141	0.001;0.0;0.0;0.002;0.012;0.002;0.001;0.0	B;B;B;B;B;B;B;B	0.13407	0.003;0.003;0.002;0.009;0.009;0.007;0.003;0.001	T	0.16100	-1.0414	10	0.08179	T	0.78	.	12.8655	0.57937	0.0:0.1247:0.7457:0.1296	.	1906;827;673;1935;1848;1939;1968;661	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	S	1968;1939;1939;509;202;904;827;1906;1935;1968;1848;1982	ENSP00000320006:T1968S;ENSP00000439807:T1939S;ENSP00000370410:T1939S;ENSP00000415964:T509S;ENSP00000445259:T202S;ENSP00000444230:T904S;ENSP00000444717:T827S;ENSP00000444151:T1906S;ENSP00000415208:T1935S;ENSP00000370403:T1968S;ENSP00000446358:T1982S	ENSP00000320006:T1968S	T	-	2	0	MPDZ	13099990	0.968000	0.33430	0.732000	0.30844	0.618000	0.37518	2.688000	0.46984	1.575000	0.49775	0.644000	0.83932	ACT		0.453	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829		12	22	0	0	0	0.010729	0	12	22		
NFIB	4781	broad.mit.edu	37	9	14307393	14307393	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:14307393C>T	ENST00000380959.3	-	2	630	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	NFIB_ENST00000380934.4_Missense_Mutation_p.E79K|NFIB_ENST00000380921.3_Missense_Mutation_p.E53K|NFIB_ENST00000380953.1_Missense_Mutation_p.E53K|NFIB_ENST00000397581.2_Missense_Mutation_p.E53K|NFIB_ENST00000397575.3_Missense_Mutation_p.E53K|NFIB_ENST00000397579.2_Missense_Mutation_p.E53K	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	53					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GCTCTTTCTTCATCCTTTGAC	0.448			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	uc003zle.2		NaN		Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	MYB|HGMA2		adenoid cystic carcinoma|lipoma		0					0						c.(157-159)GAA>AAA		nuclear factor I/B							158.0	145.0	149.0					9																	14307393		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307393C>T	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.157G>A	9.37:g.14307393C>T	ENSP00000370346:p.Glu53Lys					NFIB_uc003zlf.2_Missense_Mutation_p.E53K|NFIB_uc011lmo.1_Missense_Mutation_p.E53K	p.E53K	NM_005596	NP_005587	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	592	-			53			CTF/NF-I.		G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.157G>A	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029150	0.93518	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000380921	T;T;T;T;T;T	0.58060	0.42;0.45;0.43;0.37;0.36;0.47	5.71	5.71	0.89125	CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.72614	0.3482	M	0.73217	2.22	0.80722	D	1	P;P;P	0.52842	0.956;0.956;0.956	P;D;P	0.65010	0.899;0.931;0.899	T	0.74194	-0.3744	10	0.87932	D	0	.	19.8773	0.96884	0.0:1.0:0.0:0.0	.	53;53;53	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	K	79;53;53;53;53;53;53	ENSP00000370321:E79K;ENSP00000370346:E53K;ENSP00000370340:E53K;ENSP00000380705:E53K;ENSP00000380711:E53K;ENSP00000380709:E53K	ENSP00000370308:E53K	E	-	1	0	NFIB	14297393	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.686000	0.91538	0.650000	0.86243	GAA		0.448	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1		NM_005596		7	66	0	0	0	0.001984	0	7	66		
DNAJB5	25822	broad.mit.edu	37	9	34997058	34997058	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:34997058C>A	ENST00000541010.1	+	3	3861	c.849C>A	c.(847-849)atC>atA	p.I283I	DNAJB5_ENST00000312316.5_Silent_p.I283I|DNAJB5_ENST00000454002.2_Silent_p.I355I|DNAJB5_ENST00000453597.3_Silent_p.I397I|DNAJB5_ENST00000545841.1_Silent_p.I283I|DNAJB5_ENST00000335998.3_Silent_p.I317I			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	283					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTCCCACTATCGACGGCCGAG	0.557																																						uc003zvt.2		NaN																	0					0						c.(847-849)ATC>ATA		DnaJ (Hsp40) homolog, subfamily B, member 5							186.0	176.0	179.0					9																	34997058		2203	4300	6503	SO:0001819	synonymous_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34997058C>A	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.849C>A	9.37:g.34997058C>A						DNAJB5_uc003zvs.2_Silent_p.I317I|DNAJB5_uc011los.1_Silent_p.I355I	p.I283I	NM_012266	NP_036398	O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		4	987	+			283					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.849C>A	CCDS35007.1																																																																																				0.557	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1				41	199	1	0	1.41504e-22	0.011902	1.54006e-22	41	199		
C9orf85	138241	broad.mit.edu	37	9	74526714	74526714	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:74526714T>A	ENST00000377031.3	+	1	254	c.64T>A	c.(64-66)Ttc>Atc	p.F22I	C9orf85_ENST00000486911.2_Missense_Mutation_p.F22I|ABHD17B_ENST00000377041.2_5'Flank|C9orf85_ENST00000334731.2_Missense_Mutation_p.F22I|ABHD17B_ENST00000333421.6_5'Flank			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	22										kidney(2)|large_intestine(1)|lung(4)	7						TACGTTTAGCTTCAAAAATGA	0.532																																						uc004ain.2		NaN																	0					0						c.(64-66)TTC>ATC		hypothetical protein LOC138241							161.0	157.0	158.0					9																	74526714		2203	4300	6503	SO:0001583	missense	138241							g.chr9:74526714T>A	BC010179	CCDS6639.1	9q21.2	2012-03-16			ENSG00000155621	ENSG00000155621			28784	protein-coding gene	gene with protein product						12477932	Standard	NM_182505		Approved	MGC61599	uc004ain.3	Q96MD7	OTTHUMG00000020002	ENST00000377031.3:c.64T>A	9.37:g.74526714T>A	ENSP00000366230:p.Phe22Ile					C9orf85_uc004aio.2_RNA|C9orf85_uc010mou.2_RNA|C9orf85_uc010mov.2_RNA|FAM108B1_uc004ail.2_5'Flank|FAM108B1_uc004aim.1_5'Flank	p.F22I	NM_182505	NP_872311	Q96MD7	CI085_HUMAN			1	292	+			22					Q5W0N1|Q5W0N3|Q6PJW9|Q86U95	Missense_Mutation	SNP	ENST00000377031.3	37	c.64T>A		.	.	.	.	.	.	.	.	.	.	T	27.3	4.822339	0.90873	.	.	ENSG00000155621	ENST00000334731;ENST00000377031;ENST00000356065	T	0.52295	0.67	6.01	4.87	0.63330	.	0.152859	0.64402	D	0.000016	T	0.67373	0.2886	M	0.85630	2.765	0.45295	D	0.998297	D	0.71674	0.998	D	0.66351	0.943	T	0.70784	-0.4778	10	0.87932	D	0	-11.847	8.8404	0.35137	0.0:0.0842:0.0:0.9158	.	22	Q96MD7-1	.	I	22	ENSP00000366230:F22I	ENSP00000334289:F22I	F	+	1	0	C9orf85	73716534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.212000	0.58514	1.088000	0.41272	0.523000	0.50628	TTC		0.532	C9orf85-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052628.2		NM_182505		32	150	0	0	0	0.008361	0	32	150		
ALDH1A1	216	broad.mit.edu	37	9	75533668	75533668	+	Missense_Mutation	SNP	T	T	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:75533668T>G	ENST00000297785.3	-	8	872	c.818A>C	c.(817-819)aAg>aCg	p.K273T	ALDH1A1_ENST00000376939.1_Intron	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	273					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	GCAAGGGCTCTTTCCTCCAAG	0.468																																						uc004ajd.2		NaN																	0				ovary(3)|lung(1)	4						c.(817-819)AAG>ACG		aldehyde dehydrogenase 1A1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						122.0	115.0	117.0					9																	75533668		2203	4300	6503	SO:0001583	missense	216				cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	g.chr9:75533668T>G	K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.818A>C	9.37:g.75533668T>G	ENSP00000297785:p.Lys273Thr					ALDH1A1_uc011lsh.1_Missense_Mutation_p.K194T|ALDH1A1_uc011lsg.1_Missense_Mutation_p.K99T	p.K273T	NM_000689	NP_000680	P00352	AL1A1_HUMAN			8	871	-			273					O00768|Q5SYR1	Missense_Mutation	SNP	ENST00000297785.3	37	c.818A>C	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418887	0.83559	.	.	ENSG00000165092	ENST00000297785;ENST00000428593	D	0.82344	-1.6	5.59	5.59	0.84812	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.249901	0.34507	N	0.003913	D	0.93103	0.7804	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94666	0.7852	10	0.87932	D	0	.	15.7692	0.78152	0.0:0.0:0.0:1.0	.	194;273	B4DDF8;P00352	.;AL1A1_HUMAN	T	273;287	ENSP00000297785:K273T	ENSP00000297785:K273T	K	-	2	0	ALDH1A1	74723488	1.000000	0.71417	0.997000	0.53966	0.651000	0.38670	7.523000	0.81856	2.126000	0.65437	0.528000	0.53228	AAG		0.468	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1				35	63	0	0	0	0.017118	0	35	63		
GKAP1	80318	broad.mit.edu	37	9	86395319	86395319	+	Splice_Site	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:86395319T>C	ENST00000376371.2	-	7	963	c.563A>G	c.(562-564)gAt>gGt	p.D188G	GKAP1_ENST00000376365.3_Splice_Site_p.D188G	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	188					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						ACTAATGTGATCTGTAAATGA	0.244																																						uc004amy.2		NaN																	0					0						c.(562-564)GAT>GGT		G kinase anchoring protein 1 isoform a							45.0	50.0	49.0					9																	86395319		2197	4286	6483	SO:0001630	splice_region_variant	80318				signal transduction	Golgi apparatus		g.chr9:86395319T>C	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.563-1A>G	9.37:g.86395319T>C						GKAP1_uc004amz.2_Missense_Mutation_p.D188G|GKAP1_uc011lsu.1_RNA	p.D188G	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN			7	1059	-			188					Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	ENST00000376371.2	37	c.563A>G	CCDS35049.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.155198	0.57259	.	.	ENSG00000165113	ENST00000376371;ENST00000376365	.	.	.	5.19	5.19	0.71726	.	0.148363	0.64402	D	0.000013	T	0.62036	0.2395	M	0.61703	1.905	0.58432	D	0.999992	P;P	0.47910	0.649;0.902	B;P	0.47430	0.359;0.547	T	0.67389	-0.5683	9	0.72032	D	0.01	.	13.5517	0.61736	0.0:0.0:0.0:1.0	.	188;188	Q5VSY0-2;Q5VSY0	.;GKAP1_HUMAN	G	188	.	ENSP00000365544:D188G	D	-	2	0	GKAP1	85585139	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.176000	0.58269	2.078000	0.62432	0.460000	0.39030	GAT		0.244	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052839.2		NM_025211	Missense_Mutation	13	40	0	0	0	0.016723	0	13	40		
ZCCHC6	79670	broad.mit.edu	37	9	88967636	88967636	+	Missense_Mutation	SNP	G	G	C	rs201566816		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:88967636G>C	ENST00000375963.3	-	2	651	c.479C>G	c.(478-480)aCa>aGa	p.T160R	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.T160R|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.T160R|ZCCHC6_ENST00000375947.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	160					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTCTAGGCTTGTTAGGTCTTT	0.408																																						uc004aoq.2		NaN																	0				ovary(2)	2						c.(478-480)ACA>AGA		zinc finger, CCHC domain containing 6							170.0	169.0	169.0					9																	88967636		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88967636G>C	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.479C>G	9.37:g.88967636G>C	ENSP00000365130:p.Thr160Arg					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.T160R|ZCCHC6_uc004aou.2_Missense_Mutation_p.T160R|ZCCHC6_uc004aov.2_Missense_Mutation_p.T160R|ZCCHC6_uc004aow.2_Missense_Mutation_p.T160R|ZCCHC6_uc010mqf.1_Missense_Mutation_p.T160R	p.T160R	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			2	694	-			160					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.479C>G	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064110	0.36373	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.51071	0.72;0.74;0.76	5.31	1.37	0.22104	.	0.824130	0.10906	N	0.621118	T	0.34337	0.0894	N	0.24115	0.695	0.09310	N	1	P;P;P;P;P	0.42203	0.773;0.773;0.773;0.773;0.664	B;B;B;B;B	0.41988	0.372;0.372;0.219;0.316;0.109	T	0.17410	-1.0370	10	0.87932	D	0	-16.4895	7.2312	0.26043	0.1956:0.2257:0.5787:0.0	.	160;160;160;160;160	Q5VYS8-3;Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;.;TUT7_HUMAN	R	160	ENSP00000365127:T160R;ENSP00000365128:T160R;ENSP00000365130:T160R	ENSP00000365127:T160R	T	-	2	0	ZCCHC6	88157456	0.008000	0.16893	0.005000	0.12908	0.978000	0.69477	0.914000	0.28624	0.088000	0.17205	0.591000	0.81541	ACA		0.408	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1		NM_024617		52	126	0	0	0	0.01441	0	52	126		
SECISBP2	79048	broad.mit.edu	37	9	91963047	91963047	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:91963047G>A	ENST00000375807.3	+	12	1727	c.1656G>A	c.(1654-1656)gtG>gtA	p.V552V	SECISBP2_ENST00000534113.2_Silent_p.V484V|SECISBP2_ENST00000339901.4_Silent_p.V479V	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	552					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AAAATGCTGTGAGTCCAGCTT	0.398																																						uc004aqj.1		NaN																	0				ovary(2)|skin(1)	3						c.(1654-1656)GTG>GTA		SECIS binding protein 2							123.0	118.0	120.0					9																	91963047		2203	4300	6503	SO:0001819	synonymous_variant	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91963047G>A	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1656G>A	9.37:g.91963047G>A						SECISBP2_uc011ltk.1_Silent_p.V551V|SECISBP2_uc004aqk.1_Silent_p.V479V|SECISBP2_uc010mqo.1_Silent_p.V257V|SECISBP2_uc011ltl.1_Silent_p.V484V	p.V552V	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN			12	1736	+			552					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	ENST00000375807.3	37	c.1656G>A	CCDS6683.1																																																																																				0.398	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3		NM_024077		14	59	0	0	0	0.016723	0	14	59		
FANCC	2176	broad.mit.edu	37	9	97887396	97887396	+	Missense_Mutation	SNP	A	A	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:97887396A>C	ENST00000289081.3	-	10	1222	c.968T>G	c.(967-969)gTa>gGa	p.V323G	FANCC_ENST00000375305.1_Missense_Mutation_p.V323G|FANCC_ENST00000464653.1_5'UTR	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	323					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CAGAGCTTCTACAAAGCACTG	0.438			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004avh.2		NaN	yes	Rec		Fanconi anaemia C	9	9q22.3	2176	D|Mis|N|F|S	"""Fanconi anemia, complementation group C"""			L		AML|leukemia			0				kidney(1)	1						c.(967-969)GTA>GGA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group C							110.0	100.0	103.0					9																	97887396		2203	4300	6503	SO:0001583	missense	2176	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97887396A>C	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.968T>G	9.37:g.97887396A>C	ENSP00000289081:p.Val323Gly					FANCC_uc004avi.3_Missense_Mutation_p.V323G|uc004avj.2_5'Flank	p.V323G	NM_000136	NP_000127	Q00597	FANCC_HUMAN			10	1230	-		Acute lymphoblastic leukemia(62;0.138)	323					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.968T>G	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	A	8.380	0.837377	0.16891	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.57752	0.38;0.38	5.65	4.52	0.55395	.	0.577847	0.18664	N	0.134646	T	0.54822	0.1882	L	0.60455	1.87	0.09310	N	0.999994	B	0.31611	0.331	B	0.41236	0.351	T	0.55095	-0.8194	10	0.87932	D	0	-0.1627	9.288	0.37769	0.9186:0.0:0.0814:0.0	.	323	Q00597	FANCC_HUMAN	G	323	ENSP00000289081:V323G;ENSP00000364454:V323G	ENSP00000289081:V323G	V	-	2	0	FANCC	96927217	0.969000	0.33509	0.065000	0.19835	0.118000	0.20060	3.464000	0.53057	1.160000	0.42584	0.533000	0.62120	GTA		0.438	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1		NM_000136		4	35	0	0	0	0.009096	0	4	35		
TRIM14	9830	broad.mit.edu	37	9	100862212	100862212	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:100862212C>T	ENST00000341469.2	-	3	547		c.e3+1		TRIM14_ENST00000342043.3_Splice_Site|TRIM14_ENST00000375098.3_Splice_Site	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14						innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				CCCAGCATTACCTGAAGCCTC	0.502																																					Colon(14;460 597 13826 51781)	uc004ayd.2		NaN																	0				central_nervous_system(1)	1						c.e3+1		tripartite motif protein TRIM14 isoform alpha							74.0	64.0	68.0					9																	100862212		2203	4300	6503	SO:0001630	splice_region_variant	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100862212C>T	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.537+1G>A	9.37:g.100862212C>T						TRIM14_uc004ayf.1_Splice_Site_p.Q86_splice|TRIM14_uc004ayg.1_Splice_Site_p.Q179_splice|TRIM14_uc004ayh.1_Splice_Site_p.Q179_splice|TRIM14_uc004ayi.1_Splice_Site_p.Q179_splice|TRIM14_uc004ayj.1_Splice_Site_p.Q86_splice	p.Q179_splice	NM_033220	NP_150089	Q14142	TRI14_HUMAN			3	555	-		Acute lymphoblastic leukemia(62;0.0559)						A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Splice_Site	SNP	ENST00000341469.2	37	c.537_splice	CCDS6734.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625573	0.28889	.	.	ENSG00000106785	ENST00000375098;ENST00000311688;ENST00000341469;ENST00000342043;ENST00000375084;ENST00000375092	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5817	0.76448	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM14	99902033	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	4.762000	0.62250	2.532000	0.85374	0.563000	0.77884	.		0.502	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1		NM_014788	Intron	29	21	0	0	0	0.005443	0	29	21		
OR13C2	392376	broad.mit.edu	37	9	107367139	107367139	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:107367139A>G	ENST00000542196.1	-	1	812	c.770T>C	c.(769-771)tTc>tCc	p.F257S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	257						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(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CATGTACATGAAGAGGATGGT	0.438																																						uc011lvq.1		NaN																	0				skin(1)	1						c.(769-771)TTC>TCC		olfactory receptor, family 13, subfamily C,							118.0	105.0	109.0					9																	107367139		2201	4300	6501	SO:0001583	missense	392376				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107367139A>G		CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"""GPCR / Class A : Olfactory receptors"""	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.770T>C	9.37:g.107367139A>G	ENSP00000438815:p.Phe257Ser						p.F257S	NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN			1	770	-			257			Helical; Name=6; (Potential).		B9EGV8|Q6IF54	Missense_Mutation	SNP	ENST00000542196.1	37	c.770T>C	CCDS35092.1	.	.	.	.	.	.	.	.	.	.	A	4.720	0.133829	0.09032	.	.	ENSG00000257019	ENST00000542196	T	0.00274	8.35	3.41	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37393	U	0.002101	T	0.00178	0.0005	L	0.49513	1.565	0.27854	N	0.940635	B	0.06786	0.001	B	0.20955	0.032	T	0.29852	-0.9998	10	0.33141	T	0.24	.	5.7051	0.17903	0.7389:0.0:0.2611:0.0	.	257	Q8NGS9	O13C2_HUMAN	S	257	ENSP00000438815:F257S	ENSP00000438815:F257S	F	-	2	0	OR13C2	106406960	0.267000	0.24122	0.998000	0.56505	0.247000	0.25773	1.294000	0.33365	0.029000	0.15352	0.260000	0.18958	TTC		0.438	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053489.2		NM_001004481		34	89	0	0	0	0.010818	0	34	89		
SVEP1	79987	broad.mit.edu	37	9	113171084	113171084	+	Missense_Mutation	SNP	T	T	C	rs373682897		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:113171084T>C	ENST00000401783.2	-	38	7132	c.6796A>G	c.(6796-6798)Aaa>Gaa	p.K2266E	SVEP1_ENST00000374469.1_Missense_Mutation_p.K2243E|SVEP1_ENST00000297826.5_Missense_Mutation_p.K192E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2266	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGGGAGGTTTTCCACAGTCG	0.488																																						uc010mtz.2		NaN																	0				ovary(7)	7						c.(6796-6798)AAA>GAA		polydom							148.0	147.0	147.0					9																	113171084		1975	4169	6144	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113171084T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6796A>G	9.37:g.113171084T>C	ENSP00000384917:p.Lys2266Glu					SVEP1_uc010mty.2_Missense_Mutation_p.K192E	p.K2266E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	7133	-			2266			Sushi 15.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.6796A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	5.841	0.339400	0.11069	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.63255	-0.03;-0.03;-0.03	5.95	5.95	0.96441	Complement control module (2);Sushi/SCR/CCP (3);	0.094739	0.64402	D	0.000001	T	0.36744	0.0978	N	0.10685	0.025	0.80722	D	1	B	0.11235	0.004	B	0.12156	0.007	T	0.33650	-0.9860	10	0.02654	T	1	.	11.4545	0.50173	0.0:0.0694:0.0:0.9306	.	2266	Q4LDE5	SVEP1_HUMAN	E	2266;2243;192	ENSP00000384917:K2266E;ENSP00000363593:K2243E;ENSP00000297826:K192E	ENSP00000297826:K192E	K	-	1	0	SVEP1	112210905	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.307000	0.51888	2.279000	0.76181	0.533000	0.62120	AAA		0.488	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					37	123	0	0	0	0.005524	0	37	123		
KIAA0368	23392	broad.mit.edu	37	9	114246813	114246813	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:114246813G>T	ENST00000259335.4	-	2	99	c.100C>A	c.(100-102)Cag>Aag	p.Q34K	KIAA0368_ENST00000338205.5_5'Flank	NM_001080398.1	NP_001073867.1	Q5VYK3	ECM29_HUMAN	KIAA0368	0					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GGAGGTGGCTGGTGCTCCCAA	0.622																																						uc004bfe.1		NaN																	0					0						c.(100-102)CAG>AAG		KIAA0368 protein							19.0	21.0	20.0					9																	114246813		1891	4118	6009	SO:0001583	missense	23392							g.chr9:114246813G>T	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000259335.4:c.100C>A	9.37:g.114246813G>T	ENSP00000259335:p.Gln34Lys					KIAA0368_uc010muc.1_5'Flank	p.Q34K	NM_001080398	NP_001073867					2	100	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000259335.4	37	c.100C>A	CCDS48006.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755414	0.31046	.	.	ENSG00000136813	ENST00000259335	T	0.45668	0.89	2.72	0.715	0.18186	.	.	.	.	.	T	0.40171	0.1106	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	T	0.34030	-0.9845	6	0.49607	T	0.09	.	8.4496	0.32862	0.0:0.4777:0.5223:0.0	.	.	.	.	K	34	ENSP00000259335:Q34K	ENSP00000259335:Q34K	Q	-	1	0	KIAA0368	113286634	0.006000	0.16342	0.000000	0.03702	0.006000	0.05464	1.817000	0.39002	0.189000	0.20188	0.591000	0.81541	CAG		0.622	KIAA0368-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_014686		8	22	1	0	1.06961e-07	0.00308	1.11059e-07	8	22		
CDK5RAP2	55755	broad.mit.edu	37	9	123163060	123163060	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:123163060G>A	ENST00000349780.4	-	35	5590	c.5411C>T	c.(5410-5412)tCa>tTa	p.S1804L	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1772L|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.S1725L|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1763L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1804	Interaction with PCNT and AKAP9.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCGGGGAGTGAGACTCTCCA	0.587																																						uc004bkf.2		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(5410-5412)TCA>TTA		CDK5 regulatory subunit associated protein 2							99.0	91.0	94.0					9																	123163060		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123163060G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.5411C>T	9.37:g.123163060G>A	ENSP00000343818:p.Ser1804Leu					CDK5RAP2_uc010mvi.2_Missense_Mutation_p.S813L|CDK5RAP2_uc004bke.2_Missense_Mutation_p.S1089L|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.S1725L|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.S1069L|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.S1069L|CDK5RAP2_uc011lya.1_Missense_Mutation_p.S1069L|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.S1574L	p.S1804L	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			35	5592	-			1804			Interaction with PCNT and AKAP9.		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.5411C>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646143	0.67358	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.26810	3.7;3.62;3.7;3.59;2.01;1.71	5.39	5.39	0.77823	.	0.113505	0.40064	N	0.001181	T	0.48624	0.1510	L	0.58669	1.825	0.43613	D	0.995985	D;D;D;D;D	0.89917	0.996;0.997;1.0;0.995;1.0	D;D;D;P;D	0.87578	0.967;0.913;0.998;0.82;0.996	T	0.42816	-0.9429	10	0.87932	D	0	.	16.4592	0.84031	0.0:0.0:1.0:0.0	.	814;1772;1725;1804;1198	Q5JTU8;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	L	1772;1763;1804;1725;1198;814;1576	ENSP00000354065:S1772L;ENSP00000352258:S1763L;ENSP00000343818:S1804L;ENSP00000353317:S1725L;ENSP00000400395:S1198L;ENSP00000409941:S814L	ENSP00000341695:S1576L	S	-	2	0	CDK5RAP2	122202881	1.000000	0.71417	0.963000	0.40424	0.186000	0.23388	7.227000	0.78070	2.814000	0.96858	0.650000	0.86243	TCA		0.587	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1		NM_018249		41	45	0	0	0	0.006999	0	41	45		
RC3H2	54542	broad.mit.edu	37	9	125613386	125613386	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:125613386C>G	ENST00000373670.1	-	19	3954	c.3354G>C	c.(3352-3354)caG>caC	p.Q1118H	RC3H2_ENST00000357244.2_Missense_Mutation_p.Q1118H			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1118					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CACCTAAACTCTGTTTCTTCT	0.383																																						uc010mwc.1		NaN																	0				ovary(2)|lung(2)	4						c.(3352-3354)CAG>CAC		ring finger and CCCH-type zinc finger domains 2							217.0	209.0	212.0					9																	125613386		1951	4150	6101	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125613386C>G	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3354G>C	9.37:g.125613386C>G	ENSP00000362774:p.Gln1118His					uc004bnb.1_5'Flank|RC3H2_uc004bnc.2_RNA	p.Q1118H	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN			20	3595	-			1118					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.3354G>C	CCDS43874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.104796|3.104796	0.56291|0.56291	.|.	.|.	ENSG00000056586|ENSG00000056586	ENST00000373670;ENST00000357244|ENST00000454740	T;T|.	0.47528|.	0.84;0.84|.	5.89|5.89	4.9|4.9	0.64082|0.64082	.|.	0.178703|.	0.40469|.	N|.	0.001094|.	T|T	0.26810|0.26810	0.0656|0.0656	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|.	0.57571|.	0.98|.	D|.	0.66979|.	0.948|.	T|T	0.09015|0.09015	-1.0694|-1.0694	10|5	0.72032|.	D|.	0.01|.	-22.2165|-22.2165	5.4139|5.4139	0.16363|0.16363	0.0:0.8169:0.0:0.1831|0.0:0.8169:0.0:0.1831	.|.	1118|.	Q9HBD1|.	RC3H2_HUMAN|.	H|T	1118|177	ENSP00000362774:Q1118H;ENSP00000349783:Q1118H|.	ENSP00000349783:Q1118H|.	Q|R	-|-	3|2	2|0	RC3H2|RC3H2	124653207|124653207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.794000|1.794000	0.38774|0.38774	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.383	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1		NM_018835		46	147	0	0	0	0.01441	0	46	147		
TBC1D13	54662	broad.mit.edu	37	9	131568173	131568173	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:131568173C>T	ENST00000372648.5	+	10	1104	c.954C>T	c.(952-954)ttC>ttT	p.F318F	TBC1D13_ENST00000223865.8_Silent_p.F193F|TBC1D13_ENST00000539497.1_Silent_p.F137F	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	318	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						TCTTTGCCTTCCGCTGGCTGA	0.607																																						uc010myj.2		NaN																	0					0						c.(952-954)TTC>TTT		TBC1 domain family, member 13							91.0	67.0	75.0					9																	131568173		2203	4300	6503	SO:0001819	synonymous_variant	54662					intracellular	Rab GTPase activator activity	g.chr9:131568173C>T	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.954C>T	9.37:g.131568173C>T						TBC1D13_uc010myk.2_Silent_p.F193F|TBC1D13_uc010myl.2_Silent_p.F137F	p.F318F	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN			10	1077	+			318			Rab-GAP TBC.		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Silent	SNP	ENST00000372648.5	37	c.954C>T	CCDS6911.1																																																																																				0.607	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1		NM_018201		16	13	0	0	0	0.00499	0	16	13		
TBC1D13	54662	broad.mit.edu	37	9	131568242	131568242	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:131568242C>G	ENST00000372648.5	+	10	1173	c.1023C>G	c.(1021-1023)ctC>ctG	p.L341L	TBC1D13_ENST00000223865.8_Silent_p.L216L|TBC1D13_ENST00000539497.1_Silent_p.L160L	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	341	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						GGGACTCCCTCTTCGCCGATG	0.582																																						uc010myj.2		NaN																	0					0						c.(1021-1023)CTC>CTG		TBC1 domain family, member 13							121.0	81.0	94.0					9																	131568242		2203	4300	6503	SO:0001819	synonymous_variant	54662					intracellular	Rab GTPase activator activity	g.chr9:131568242C>G	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.1023C>G	9.37:g.131568242C>G						TBC1D13_uc010myk.2_Silent_p.L216L|TBC1D13_uc010myl.2_Silent_p.L160L	p.L341L	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN			10	1146	+			341			Rab-GAP TBC.		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Silent	SNP	ENST00000372648.5	37	c.1023C>G	CCDS6911.1																																																																																				0.582	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1		NM_018201		17	27	0	0	0	0.00499	0	17	27		
LRRC8A	56262	broad.mit.edu	37	9	131670865	131670865	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:131670865G>A	ENST00000259324.5	+	3	1945	c.1422G>A	c.(1420-1422)ctG>ctA	p.L474L	LRRC8A_ENST00000372599.3_Silent_p.L474L|LRRC8A_ENST00000372600.4_Silent_p.L474L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	474					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TCAAGGAGCTGTGGCTCTACC	0.622																																						uc004bwl.3		NaN																	0					0						c.(1420-1422)CTG>CTA		leucine rich repeat containing 8 family, member							19.0	19.0	19.0					9																	131670865		2196	4287	6483	SO:0001819	synonymous_variant	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670865G>A	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1422G>A	9.37:g.131670865G>A						LRRC8A_uc010myp.2_Silent_p.L474L|LRRC8A_uc010myq.2_Silent_p.L474L	p.L474L	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			3	1676	+			474			LRR 5.		Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	ENST00000259324.5	37	c.1422G>A	CCDS35155.1																																																																																				0.622	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2		NM_019594		5	29	0	0	0	0.014758	0	5	29		
ASS1	445	broad.mit.edu	37	9	133370345	133370345	+	Silent	SNP	C	C	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:133370345C>G	ENST00000372394.1	+	14	1543	c.1062C>G	c.(1060-1062)ctC>ctG	p.L354L	ASS1_ENST00000352480.5_Silent_p.L354L|ASS1_ENST00000372393.3_Silent_p.L354L			P00966	ASSY_HUMAN	argininosuccinate synthase 1	354					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGTCCGTCCTCAAGGGCCAGG	0.592																																						uc004bzm.2		NaN																	0				ovary(1)	1						c.(1060-1062)CTC>CTG		argininosuccinate synthetase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						108.0	97.0	101.0					9																	133370345		2203	4300	6503	SO:0001819	synonymous_variant	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133370345C>G	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.1062C>G	9.37:g.133370345C>G						ASS1_uc004bzn.2_Silent_p.L354L|ASS1_uc010mza.2_Silent_p.L430L|ASS1_uc004bzo.2_Silent_p.L335L|ASS1_uc010mzb.2_Silent_p.L392L|ASS1_uc004bzp.2_Silent_p.L354L|ASS1_uc010mzc.2_Silent_p.L354L	p.L354L	NM_000050	NP_000041	P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	14	1418	+			354					Q6LDL2|Q86UZ0|Q96GT4	Silent	SNP	ENST00000372394.1	37	c.1062C>G	CCDS6933.1																																																																																				0.592	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1		NM_000050		11	30	0	0	0	0.008291	0	11	30		
ABL1	25	broad.mit.edu	37	9	133738201	133738201	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:133738201C>T	ENST00000318560.5	+	4	982	c.601C>T	c.(601-603)Cat>Tat	p.H201Y		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	201	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GTTGGTTCATCATCATTCAAC	0.567			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	uc004bzw.2		NaN		Dom	yes		9	9q34.1	25	T|Mis	v-abl Abelson murine leukemia viral oncogene homolog 1			L	BCR|ETV6|NUP214		CML|ALL|T-ALL		0				haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1)	817						c.(601-603)CAT>TAT		c-abl oncogene 1, receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						102.0	80.0	88.0					9																	133738201		2203	4300	6503	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133738201C>T	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.601C>T	9.37:g.133738201C>T	ENSP00000323315:p.His201Tyr					ABL1_uc004bzv.2_Missense_Mutation_p.H220Y|uc004bzx.1_5'Flank	p.H201Y	NM_005157	NP_005148	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	4	604	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	201			SH2.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.601C>T	CCDS35166.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.674592|4.674592	0.88445|0.88445	.|.	.|.	ENSG00000097007|ENSG00000097007	ENST00000372348;ENST00000318560|ENST00000444970	T;T|.	0.26067|.	1.76;1.76|.	6.03|6.03	6.03|6.03	0.97812|0.97812	SH2 motif (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62756|0.62756	0.2454|0.2454	L|L	0.28776|0.28776	0.89|0.89	0.80722|0.80722	D|D	1|1	D;D|.	0.55605|.	0.972;0.972|.	D;D|.	0.65874|.	0.939;0.939|.	T|T	0.63646|0.63646	-0.6590|-0.6590	10|6	0.87932|0.87932	D|D	0|0	.|.	19.6124|19.6124	0.95613|0.95613	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	201;238|.	P00519;Q59FK4|.	ABL1_HUMAN;.|.	Y|L	220;201|17	ENSP00000361423:H220Y;ENSP00000323315:H201Y|.	ENSP00000323315:H201Y|ENSP00000400412:S17L	H|S	+|+	1|2	0|0	ABL1|ABL1	132728022|132728022	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.624000|0.624000	0.37722|0.37722	7.775000|7.775000	0.85489|0.85489	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.567	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1		NM_007313		22	47	0	0	0	0.010504	0	22	47		
PRRC2B	84726	broad.mit.edu	37	9	134308042	134308042	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:134308042G>A	ENST00000357304.4	+	2	209	c.154G>A	c.(154-156)Gct>Act	p.A52T	PRRC2B_ENST00000458550.1_Missense_Mutation_p.A52T|PRRC2B_ENST00000405995.1_Missense_Mutation_p.A52T	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	52							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGGGAAAGTTGCTGCAGCCCG	0.522																																						uc004can.3		NaN																	0					0						c.(154-156)GCT>ACT		HLA-B associated transcript 2-like							65.0	71.0	69.0					9																	134308042		1954	4165	6119	SO:0001583	missense	84726						protein binding	g.chr9:134308042G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.154G>A	9.37:g.134308042G>A	ENSP00000349856:p.Ala52Thr					BAT2L1_uc004cam.1_Missense_Mutation_p.A52T	p.A52T	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			2	209	+			52					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.154G>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	36	5.899125	0.97081	.	.	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	T;T;T	0.25250	1.81;1.81;1.81	6.17	6.17	0.99709	BAT2, N-terminal (1);	0.000000	0.39909	U	0.001225	T	0.44746	0.1308	M	0.65498	2.005	0.80722	D	1	P	0.49783	0.928	P	0.51974	0.686	T	0.21861	-1.0233	10	0.72032	D	0.01	-0.6605	19.8676	0.96824	0.0:0.0:1.0:0.0	.	52	Q5JSZ5	PRC2B_HUMAN	T	52	ENSP00000384606:A52T;ENSP00000349856:A52T;ENSP00000398853:A52T	ENSP00000349856:A52T	A	+	1	0	PRRC2B	133297863	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GCT		0.522	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					17	55	0	0	0	0.00499	0	17	55		
STKLD1	169436	broad.mit.edu	37	9	136253248	136253248	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:136253248C>T	ENST00000371957.3	+	5	419	c.312C>T	c.(310-312)ctC>ctT	p.L104L	C9orf96_ENST00000426926.2_Silent_p.L104L|C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTGTACCTCTGCCTGGTGA	0.572																																						uc004cdk.2		NaN																	0				stomach(2)|central_nervous_system(2)	4						c.(310-312)CTC>CTT		hypothetical protein LOC169436							95.0	79.0	85.0					9																	136253248		2203	4300	6503	SO:0001819	synonymous_variant	169436						ATP binding|protein kinase activity	g.chr9:136253248C>T																												ENST00000371957.3:c.312C>T	9.37:g.136253248C>T						C9orf96_uc004cdl.2_RNA	p.L104L	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	5	373	+			104			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	ENST00000371957.3	37	c.312C>T	CCDS35169.1																																																																																				0.572	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1				23	25	0	0	0	0.01892	0	23	25		
SARDH	1757	broad.mit.edu	37	9	136599158	136599158	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:136599158C>T	ENST00000371872.4	-	2	395	c.138G>A	c.(136-138)ctG>ctA	p.L46L	SARDH_ENST00000422262.2_Intron|SARDH_ENST00000439388.1_Silent_p.L46L|SARDH_ENST00000371867.1_5'UTR|SARDH_ENST00000298628.5_Silent_p.L46L	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	46					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTCCCTCCTTCAGGGTCCGCT	0.692																																						uc004cep.3		NaN																	0					0						c.(136-138)CTG>CTA		sarcosine dehydrogenase precursor							31.0	28.0	29.0					9																	136599158		2201	4297	6498	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136599158C>T		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.138G>A	9.37:g.136599158C>T						SARDH_uc004ceo.2_Silent_p.L46L|SARDH_uc011mdn.1_Silent_p.L46L|SARDH_uc011mdo.1_Intron	p.L46L	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	2	272	-			46					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.138G>A	CCDS6978.1																																																																																				0.692	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1				11	29	0	0	0	0.010729	0	11	29		
COL5A1	1289	broad.mit.edu	37	9	137711985	137711985	+	Silent	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr9:137711985C>A	ENST00000371817.3	+	58	4884	c.4470C>A	c.(4468-4470)ctC>ctA	p.L1490L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1490	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGATCGGGCTCATCGGTCCTC	0.637																																						uc004cfe.2		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(4468-4470)CTC>CTA		alpha 1 type V collagen preproprotein							103.0	98.0	100.0					9																	137711985		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137711985C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4470C>A	9.37:g.137711985C>A						uc004cff.2_RNA	p.L1490L	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	58	4852	+		Myeloproliferative disorder(178;0.0341)	1490			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.4470C>A	CCDS6982.1																																																																																				0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093		22	62	1	0	3.08376e-08	0.01892	3.21423e-08	22	62		
AKAP17A	8227	broad.mit.edu	37	X	1719917	1719917	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:1719917C>A	ENST00000313871.3	+	5	1714	c.1518C>A	c.(1516-1518)gaC>gaA	p.D506E		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	506					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CAGAGGCCGACGGCGCTCCCA	0.716																																						uc004cqa.2		NaN																	0					0						c.(1516-1518)GAC>GAA		DNA segment on chromosome X and Y (unique) 155			,GLU/ASP	3,4397		0,3,2197	21.0	23.0	22.0		,1518	-1.4	0.0	X	dbSNP_134	22	0,8590		0,0,4295	no	intron,missense	ASMT,AKAP17A	NM_004043.2,NM_005088.2	,45	0,3,6492	AA,AC,CC		0.0,0.0682,0.0231	,possibly-damaging	,506/696	1719917	3,12987	2200	4295	6495	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1719917C>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1518C>A	X.37:g.1719917C>A	ENSP00000324827:p.Asp506Glu					SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	p.D506E	NM_005088	NP_005079	Q02040	AK17A_HUMAN			5	1714	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	506					Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.1518C>A	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	c	12.29	1.894897	0.33442	6.82E-4	0.0	ENSG00000197976	ENST00000313871	T	0.41758	0.99	1.56	-1.4	0.08968	.	0.929302	0.08680	U	0.909554	T	0.26304	0.0642	.	.	.	0.09310	N	1	P	0.52577	0.954	P	0.52031	0.688	T	0.22277	-1.0221	9	0.02654	T	1	.	3.3629	0.07193	0.0:0.3821:0.2172:0.4007	.	506	Q02040	AK17A_HUMAN	E	506	ENSP00000324827:D506E	ENSP00000324827:D506E	D	+	3	2	AKAP17A	1679917	0.000000	0.05858	0.007000	0.13788	0.033000	0.12548	-1.654000	0.01984	0.533000	0.28675	0.367000	0.22151	GAC		0.716	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2		NM_005088		9	32	1	0	0.00621372	0.006214	0.00627157	9	32		
VCX	26609	broad.mit.edu	37	X	7811787	7811787	+	Silent	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:7811787G>A	ENST00000381059.3	+	3	570	c.351G>A	c.(349-351)gaG>gaA	p.E117E	VCX_ENST00000341408.4_Silent_p.E117E	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	117	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				TGAGTCAGGAGAGCGAGGTGG	0.637																																						uc004crz.2		NaN																	0					0						c.(349-351)GAG>GAA		variable charge, X chromosome							57.0	71.0	66.0					X																	7811787		2133	4091	6224	SO:0001819	synonymous_variant	26609				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	g.chrX:7811787G>A	AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"""variable charge, X chromosome"""			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.351G>A	X.37:g.7811787G>A							p.E117E	NM_013452	NP_038480	Q9H320	VCX1_HUMAN			3	570	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	117			2.|10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.		A0JNS5|Q4V774|Q9P0H3	Silent	SNP	ENST00000381059.3	37	c.351G>A	CCDS14128.1																																																																																				0.637	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071474.1		NM_013452		95	48	0	0	0	0.01441	0	95	48		
KAL1	3730	broad.mit.edu	37	X	8538598	8538598	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:8538598A>G	ENST00000262648.3	-	7	1153	c.1004T>C	c.(1003-1005)aTg>aCg	p.M335T		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	335	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ACTGCTGACCATCCAGCTCCA	0.517																																						uc004csf.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(1003-1005)ATG>ACG		Kallmann syndrome 1 protein precursor							131.0	87.0	102.0					X																	8538598		2203	4300	6503	SO:0001583	missense	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8538598A>G		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1004T>C	X.37:g.8538598A>G	ENSP00000262648:p.Met335Thr						p.M335T	NM_000216	NP_000207	P23352	KALM_HUMAN			7	1154	-			335			Fibronectin type-III 2.		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.1004T>C	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	A	2.229	-0.376495	0.05000	.	.	ENSG00000011201	ENST00000262648	T	0.55588	0.51	4.11	3.24	0.37175	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.178473	0.48286	N	0.000196	T	0.12135	0.0295	N	0.00075	-2.25	0.21782	N	0.999548	B	0.02656	0.0	B	0.01281	0.0	T	0.37865	-0.9687	10	0.02654	T	1	-2.0808	10.8209	0.46604	0.0964:0.0:0.9036:0.0	.	335	P23352	KALM_HUMAN	T	335	ENSP00000262648:M335T	ENSP00000262648:M335T	M	-	2	0	KAL1	8498598	1.000000	0.71417	0.130000	0.21974	0.513000	0.34164	4.928000	0.63447	0.589000	0.29677	-0.482000	0.04802	ATG		0.517	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1		NM_000216		14	4	0	0	0	0.003163	0	14	4		
KLHL15	80311	broad.mit.edu	37	X	24006301	24006301	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:24006301C>T	ENST00000328046.8	-	4	1807	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	518					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGATCAGTCTCTGGGTTGTAT	0.478																																						uc004dba.3		NaN																	0				ovary(1)|breast(1)	2						c.(1552-1554)GAG>AAG		kelch-like 15							166.0	149.0	155.0					X																	24006301		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24006301C>T	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1552G>A	X.37:g.24006301C>T	ENSP00000332791:p.Glu518Lys						p.E518K	NM_030624	NP_085127	Q96M94	KLH15_HUMAN			4	1808	-			518			Kelch 4.		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.1552G>A	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477780	0.44044	.	.	ENSG00000174010	ENST00000328046	T	0.78126	-1.15	5.94	5.94	0.96194	Kelch-type beta propeller (1);	0.216095	0.47093	D	0.000242	T	0.65903	0.2736	N	0.25060	0.705	0.51233	D	0.99991	B	0.17268	0.021	B	0.19391	0.025	T	0.62483	-0.6845	10	0.06236	T	0.91	.	19.2359	0.93858	0.0:1.0:0.0:0.0	.	518	Q96M94	KLH15_HUMAN	K	518	ENSP00000332791:E518K	ENSP00000332791:E518K	E	-	1	0	KLHL15	23916222	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.487000	0.81328	2.494000	0.84150	0.506000	0.49869	GAG		0.478	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1		XM_040383		110	28	0	0	0	0.01441	0	110	28		
EIF2S3	1968	broad.mit.edu	37	X	24084129	24084129	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:24084129G>C	ENST00000253039.4	+	8	1040	c.787G>C	c.(787-789)Gat>Cat	p.D263H		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	263					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TAGATCTTTTGATGTCAACAA	0.308																																						uc004dbc.2		NaN																	0				lung(1)	1						c.(787-789)GAT>CAT		eukaryotic translation initiation factor 2,							139.0	132.0	134.0					X																	24084129		2203	4300	6503	SO:0001583	missense	1968					cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chrX:24084129G>C	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.787G>C	X.37:g.24084129G>C	ENSP00000253039:p.Asp263His						p.D263H	NM_001415	NP_001406	P41091	IF2G_HUMAN			8	808	+			263					B5BTZ4	Missense_Mutation	SNP	ENST00000253039.4	37	c.787G>C	CCDS14210.1	.	.	.	.	.	.	.	.	.	.	g	24.1	4.490685	0.84962	.	.	ENSG00000130741	ENST00000253039	T	0.66280	-0.2	5.49	5.49	0.81192	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.048282	0.85682	D	0.000000	D	0.88089	0.6343	H	0.99117	4.435	0.80722	D	1	D	0.71674	0.998	D	0.65443	0.935	D	0.93261	0.6643	10	0.87932	D	0	.	18.6523	0.91435	0.0:0.0:1.0:0.0	.	263	P41091	IF2G_HUMAN	H	263	ENSP00000253039:D263H	ENSP00000253039:D263H	D	+	1	0	EIF2S3	23994050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.290000	0.96065	2.436000	0.82500	0.540000	0.68198	GAT		0.308	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1		NM_001415		27	46	0	0	0	0.004656	0	27	46		
TAB3	257397	broad.mit.edu	37	X	30873457	30873457	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:30873457G>A	ENST00000378933.1	-	3	502	c.325C>T	c.(325-327)Cct>Tct	p.P109S	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000288422.2_Missense_Mutation_p.P109S|TAB3_ENST00000378930.3_Missense_Mutation_p.P109S|TAB3_ENST00000378932.2_Missense_Mutation_p.P109S	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	109					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GCATGCTGAGGATCAATATGT	0.453																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2		NaN																	0				ovary(1)	1						c.(325-327)CCT>TCT		mitogen-activated protein kinase kinase kinase 7							167.0	110.0	129.0					X																	30873457		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873457G>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.325C>T	X.37:g.30873457G>A	ENSP00000368215:p.Pro109Ser					TAB3_uc004dck.2_Missense_Mutation_p.P109S|TAB3_uc010ngl.2_Missense_Mutation_p.P109S	p.P109S	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			6	988	-			109					A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.325C>T	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	9.203	1.029025	0.19512	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	5.44	5.44	0.79542	.	0.051763	0.85682	D	0.000000	T	0.73289	0.3568	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.66351	0.943;0.879	T	0.66484	-0.5912	10	0.07644	T	0.81	-3.8409	18.5384	0.91019	0.0:0.0:1.0:0.0	.	109;109	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	S	109	ENSP00000368215:P109S;ENSP00000368212:P109S;ENSP00000288422:P109S;ENSP00000368214:P109S	ENSP00000288422:P109S	P	-	1	0	TAB3	30783378	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.407000	0.81776	0.600000	0.82982	CCT		0.453	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1		NM_152787		31	5	0	0	0	0.008361	0	31	5		
DMD	1756	broad.mit.edu	37	X	32382783	32382783	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:32382783G>T	ENST00000357033.4	-	36	5276	c.5070C>A	c.(5068-5070)caC>caA	p.H1690Q	DMD_ENST00000378677.2_Missense_Mutation_p.H1686Q	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	1690	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTTTGTGATGTGGTCCACAT	0.363																																						uc004dda.1		NaN																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(5068-5070)CAC>CAA		dystrophin Dp427m isoform							234.0	182.0	200.0					X																	32382783		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:32382783G>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.5070C>A	X.37:g.32382783G>T	ENSP00000354923:p.His1690Gln					DMD_uc004dcw.2_Missense_Mutation_p.H346Q|DMD_uc004dcx.2_Missense_Mutation_p.H349Q|DMD_uc004dcz.2_Missense_Mutation_p.H1567Q|DMD_uc004dcy.1_Missense_Mutation_p.H1686Q|DMD_uc004ddb.1_Missense_Mutation_p.H1682Q|DMD_uc010ngo.1_Intron	p.H1690Q	NM_004006	NP_003997	P11532	DMD_HUMAN			36	5314	-		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)	1690			Spectrin 12.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5070C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669961	0.29693	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48201	0.82;0.82	5.38	-2.35	0.06684	.	0.930757	0.08649	N	0.914370	T	0.27169	0.0666	L	0.27053	0.805	0.44175	D	0.99698	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.003;0.001;0.001;0.001	T	0.12192	-1.0557	10	0.44086	T	0.13	.	0.4306	0.00471	0.3376:0.1991:0.2579:0.2054	.	1682;1690;1686;349;346	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	Q	1682;349;346;1686;1690;1690;1567	ENSP00000367948:H1686Q;ENSP00000354923:H1690Q	ENSP00000354923:H1690Q	H	-	3	2	DMD	32292704	0.788000	0.28762	0.127000	0.21898	0.985000	0.73830	-0.196000	0.09532	-1.041000	0.03266	0.538000	0.68166	CAC		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006		52	12	1	0	1.35964e-18	0.01441	1.46215e-18	52	12		
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:44922802C>T	ENST00000377967.4	+	16	1704	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	555	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)|p.Q555*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGCGTCTCTCAGCCTGGAGT	0.567			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		10	Whole gene deletion(6)|Substitution - Nonsense(2)|No detectable mRNA/protein(2)		urinary_tract(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(1663-1665)CAG>TAG		ubiquitously transcribed tetratricopeptide							97.0	65.0	76.0					X																	44922802		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922802C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1663C>T	X.37:g.44922802C>T	ENSP00000367203:p.Gln555*					KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	p.Q555*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			16	2038	+			555					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.1663C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.7|24.7	4.560972|4.560972	0.86335|0.86335	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688|ENST00000414389;ENST00000433797	.|T;T	.|0.23552	.|1.9;1.91	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.200761|.	0.44285|.	D|.	0.000466|.	.|T	.|0.47040	.|0.1424	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57294	.|-0.7836	.|5	0.38643|0.62326	T|D	0.18|0.03	-5.3391|-5.3391	17.0783|17.0783	0.86591|0.86591	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	252;555;510;562;476;148|152;197	.|ENSP00000405910:S152L;ENSP00000398929:S197L	ENSP00000334340:Q252X|ENSP00000405910:S152L	Q|S	+|+	1|2	0|0	KDM6A|KDM6A	44807746|44807746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	7.160000|7.160000	0.77495|0.77495	2.039000|2.039000	0.60335|0.60335	0.509000|0.509000	0.49947|0.49947	CAG|TCA		0.567	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		29	13	0	0	0	0.008361	0	29	13		
MAGIX	79917	broad.mit.edu	37	X	49022416	49022416	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:49022416C>T	ENST00000412696.2	+	6	683	c.683C>T	c.(682-684)cCg>cTg	p.P228L	MAGIX_ENST00000498742.1_Intron|MAGIX_ENST00000376338.3_Missense_Mutation_p.P169L|MAGIX_ENST00000425661.2_Missense_Mutation_p.P152L|MAGIX_ENST00000376339.1_Intron	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	228																	TCCGTAGTCCCGTCATGGCCA	0.602																																						uc010nin.1		NaN																	0					0						c.(682-684)CCG>CTG		MAGI family member, X-linked isoform a							42.0	46.0	45.0					X																	49022416		2117	4213	6330	SO:0001583	missense	79917							g.chrX:49022416C>T	AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.683C>T	X.37:g.49022416C>T	ENSP00000387928:p.Pro228Leu					MAGIX_uc010nio.1_Missense_Mutation_p.P152L|MAGIX_uc004dmt.2_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.P169L|MAGIX_uc004dmw.2_Intron	p.P228L	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN			6	730	+			228					A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	37	c.683C>T	CCDS48106.1	.	.	.	.	.	.	.	.	.	.	.	6.852	0.526445	0.13066	.	.	ENSG00000017621	ENST00000425661;ENST00000412696;ENST00000376338	T;T;T	0.29397	2.29;1.66;1.57	3.86	-1.14	0.09741	.	.	.	.	.	T	0.11067	0.0270	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.29212	-1.0019	9	0.32370	T	0.25	.	7.1581	0.25649	0.0:0.5438:0.0:0.4562	.	152;228;169	F8WCY7;Q9H6Y5;Q9H6Y5-2	.;MAGIX_HUMAN;.	L	152;228;169	ENSP00000403515:P152L;ENSP00000387928:P228L;ENSP00000365516:P169L	ENSP00000365516:P169L	P	+	2	0	MAGIX	48909360	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.200000	0.09478	-0.203000	0.10251	-0.306000	0.09157	CCG		0.602	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1		NM_024859		28	9	0	0	0	0.007291	0	28	9		
FAM120C	54954	broad.mit.edu	37	X	54143101	54143101	+	Missense_Mutation	SNP	T	T	A			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:54143101T>A	ENST00000375180.2	-	10	2245	c.2189A>T	c.(2188-2190)aAa>aTa	p.K730I	FAM120C_ENST00000328235.4_Missense_Mutation_p.K730I	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	730							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TTCAACTGCTTTGCCTAGCCA	0.527																																						uc004dsz.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2188-2190)AAA>ATA		hypothetical protein LOC54954							150.0	113.0	126.0					X																	54143101		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54143101T>A	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2189A>T	X.37:g.54143101T>A	ENSP00000364324:p.Lys730Ile					FAM120C_uc011moh.1_Missense_Mutation_p.K730I	p.K730I	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			10	2272	-			730					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.2189A>T	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954377	0.73902	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.50001	0.76;0.76	4.57	4.57	0.56435	.	0.055799	0.64402	D	0.000002	T	0.58119	0.2100	L	0.43152	1.355	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.66716	0.946;0.921	T	0.61332	-0.7084	10	0.72032	D	0.01	-7.7906	12.3163	0.54958	0.0:0.0:0.0:1.0	.	730;730	F8W881;Q9NX05	.;F120C_HUMAN	I	730	ENSP00000364324:K730I;ENSP00000329896:K730I	ENSP00000329896:K730I	K	-	2	0	FAM120C	54159826	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.733000	0.55029	1.611000	0.50210	0.481000	0.45027	AAA		0.527	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2		NM_017848		40	14	0	0	0	0.007835	0	40	14		
ARHGEF9	23229	broad.mit.edu	37	X	62926191	62926191	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:62926191C>T	ENST00000253401.6	-	3	1128	c.328G>A	c.(328-330)Gag>Aag	p.E110K	ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E89K|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.E57K|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E108K|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.E8K	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	110	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Interaction with GPHN. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTCATTATCTCATTGATGACA	0.532																																						uc004dvl.2		NaN																	0				ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						c.(328-330)GAG>AAG		Cdc42 guanine exchange factor 9							177.0	119.0	139.0					X																	62926191		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62926191C>T	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.328G>A	X.37:g.62926191C>T	ENSP00000253401:p.Glu110Lys					ARHGEF9_uc004dvj.1_5'UTR|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_Missense_Mutation_p.E89K|ARHGEF9_uc004dvm.1_Missense_Mutation_p.E89K|ARHGEF9_uc011mot.1_Missense_Mutation_p.E57K|ARHGEF9_uc004dvn.2_Missense_Mutation_p.E117K	p.E110K	NM_015185	NP_056000	O43307	ARHG9_HUMAN			3	1167	-			110			Interaction with GPHN (By similarity).|DH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.328G>A	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979368	0.92982	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.73	4.85	0.62838	Src homology-3 domain (1);Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.94538	0.8241	H	0.98577	4.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95856	0.8879	10	0.87932	D	0	.	13.7508	0.62906	0.1547:0.8453:0.0:0.0	.	57;108;110	B4DHC7;B1AMR4;O43307	.;.;ARHG9_HUMAN	K	110;108;57;8;89	ENSP00000253401:E110K;ENSP00000364012:E108K;ENSP00000399994:E57K;ENSP00000364004:E8K;ENSP00000364006:E89K	ENSP00000253401:E110K	E	-	1	0	ARHGEF9	62842916	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.161000	0.77505	1.140000	0.42260	0.600000	0.82982	GAG		0.532	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1				4	5	0	0	0	0.009096	0	4	5		
P2RY10	27334	broad.mit.edu	37	X	78216656	78216656	+	Silent	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:78216656C>T	ENST00000171757.2	+	4	919	c.639C>T	c.(637-639)atC>atT	p.I213I	P2RY10_ENST00000544091.1_Silent_p.I213I	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CAGTGATCATCATCGCATGGT	0.478																																						uc004ede.2		NaN																	0				ovary(2)|lung(2)|breast(1)	5						c.(637-639)ATC>ATT		G-protein coupled purinergic receptor P2Y10							165.0	124.0	138.0					X																	78216656		2203	4300	6503	SO:0001819	synonymous_variant	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216656C>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.639C>T	X.37:g.78216656C>T						P2RY10_uc004edf.2_Silent_p.I213I	p.I213I	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	1008	+			213			Helical; Name=5; (Potential).		D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.639C>T	CCDS14442.1																																																																																				0.478	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1				24	35	0	0	0	0.01892	0	24	35		
POF1B	79983	broad.mit.edu	37	X	84560911	84560911	+	Silent	SNP	A	A	G			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:84560911A>G	ENST00000262753.4	-	13	1468	c.1323T>C	c.(1321-1323)tcT>tcC	p.S441S	POF1B_ENST00000373145.3_Silent_p.S441S	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	441						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGCAAGTCTCAGAAACCTACA	0.363																																						uc004eer.2		NaN																	0					0						c.(1321-1323)TCT>TCC		premature ovarian failure, 1B							130.0	114.0	119.0					X																	84560911		2203	4300	6503	SO:0001819	synonymous_variant	79983						actin binding	g.chrX:84560911A>G	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1323T>C	X.37:g.84560911A>G						POF1B_uc004ees.2_Silent_p.S441S	p.S441S	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			13	1469	-			441			Potential.		A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Silent	SNP	ENST00000262753.4	37	c.1323T>C	CCDS14452.1																																																																																				0.363	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2		NM_024921		42	12	0	0	0	0.007835	0	42	12		
GPRASP1	9737	broad.mit.edu	37	X	101911854	101911854	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:101911854T>C	ENST00000361600.5	+	5	3814	c.3013T>C	c.(3013-3015)Tgg>Cgg	p.W1005R	GPRASP1_ENST00000415986.1_Missense_Mutation_p.W1005R|GPRASP1_ENST00000444152.1_Missense_Mutation_p.W1005R|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.W1005R	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1005	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGTGGGGTCCTGGTTCTGGGC	0.512																																						uc004ejj.3		NaN																	0				ovary(1)|lung(1)	2						c.(3013-3015)TGG>CGG		G protein-coupled receptor associated sorting							146.0	126.0	133.0					X																	101911854		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101911854T>C	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3013T>C	X.37:g.101911854T>C	ENSP00000355146:p.Trp1005Arg					GPRASP1_uc004eji.3_Missense_Mutation_p.W1005R|GPRASP1_uc010nod.2_Missense_Mutation_p.W1005R	p.W1005R	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	3814	+			1005			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3013T>C	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	T	10.62	1.401953	0.25291	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	3.03	3.03	0.35002	.	.	.	.	.	T	0.48466	0.1501	M	0.68593	2.085	0.25824	N	0.984241	D	0.89917	1.0	D	0.91635	0.999	T	0.26395	-1.0104	9	0.87932	D	0	-2.2888	5.6571	0.17648	0.0:0.0:0.2796:0.7203	.	1005	Q5JY77	GASP1_HUMAN	R	1005	ENSP00000393691:W1005R;ENSP00000409420:W1005R;ENSP00000355146:W1005R;ENSP00000445683:W1005R	ENSP00000355146:W1005R	W	+	1	0	GPRASP1	101798510	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.847000	0.39299	1.437000	0.47472	0.350000	0.21858	TGG		0.512	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2		NM_014710		87	20	0	0	0	0.01441	0	87	20		
CAPN6	827	broad.mit.edu	37	X	110489911	110489911	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:110489911T>C	ENST00000324068.1	-	13	1987	c.1820A>G	c.(1819-1821)gAt>gGt	p.D607G	CAPN6_ENST00000541758.1_Missense_Mutation_p.D352G	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	607	C2.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGACTTCAGATCACGGCAGTC	0.512																																						uc004epc.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(1819-1821)GAT>GGT		calpain 6							159.0	117.0	131.0					X																	110489911		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110489911T>C	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1820A>G	X.37:g.110489911T>C	ENSP00000317214:p.Asp607Gly					CAPN6_uc011msu.1_Missense_Mutation_p.D352G	p.D607G	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			13	1988	-			607			C2.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.1820A>G	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.423203	0.25639	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.70399	-0.48;-0.48	5.37	5.37	0.77165	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	1.060200	0.07184	N	0.854530	T	0.54647	0.1871	N	0.14661	0.345	0.35468	D	0.797061	B	0.02656	0.0	B	0.04013	0.001	T	0.50972	-0.8764	10	0.27082	T	0.32	.	8.3733	0.32427	0.0:0.0913:0.0:0.9087	.	607	Q9Y6Q1	CAN6_HUMAN	G	607;352	ENSP00000317214:D607G;ENSP00000441736:D352G	ENSP00000317214:D607G	D	-	2	0	CAPN6	110376567	0.920000	0.31207	1.000000	0.80357	0.997000	0.91878	2.883000	0.48554	1.988000	0.58038	0.477000	0.44152	GAT		0.512	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1				53	9	0	0	0	0.01441	0	53	9		
CNGA2	1260	broad.mit.edu	37	X	150912796	150912796	+	Silent	SNP	C	C	T	rs373994233		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrX:150912796C>T	ENST00000329903.4	+	6	1854	c.1821C>T	c.(1819-1821)aaC>aaT	p.N607N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	607					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGACCAACATGGAAACCT	0.572																																						uc004fey.1		NaN																	0				breast(3)	3						c.(1819-1821)AAC>AAT		cyclic nucleotide gated channel alpha 2							193.0	145.0	161.0					X																	150912796		2203	4300	6503	SO:0001819	synonymous_variant	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912796C>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1821C>T	X.37:g.150912796C>T							p.N607N	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	2045	+	Acute lymphoblastic leukemia(192;6.56e-05)		607			Cytoplasmic (Potential).		A0AVD0	Silent	SNP	ENST00000329903.4	37	c.1821C>T	CCDS14701.1																																																																																				0.572	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1		NM_005140		84	32	0	0	0	0.01441	0	84	32		
NLGN4Y	22829	broad.mit.edu	37	Y	16835002	16835002	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chrY:16835002C>T	ENST00000297967.5	+	3	637	c.538C>T	c.(538-540)Cat>Tat	p.H180Y	NLGN4Y_ENST00000476359.1_3'UTR	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked	160					learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						TCCAGATATTCATGAACAGAA	0.413																																						uc004ftg.2		NaN																	0					0						c.(478-480)CAT>TAT		neuroligin 4, Y-linked isoform 1																																				SO:0001583	missense	22829				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrY:16835002C>T		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000297967.5:c.538C>T	Y.37:g.16835002C>T	ENSP00000297967:p.His180Tyr					NLGN4Y_uc004fte.2_5'UTR|NLGN4Y_uc011nas.1_Missense_Mutation_p.H180Y|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.H160Y|NLGN4Y_uc004fti.3_Missense_Mutation_p.H180Y	p.H160Y	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN			3	730	+			160			Extracellular (Potential).		F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	ENST00000297967.5	37	c.478C>T	CCDS55553.1																																																																																				0.413	NLGN4Y-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_014893		5	40	0	0	0	0.014758	0	5	40		
PHLDA3	23612	broad.mit.edu	37	1	201437720	201437728	+	In_Frame_Del	DEL	CTCCACGCA	CTCCACGCA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:201437720_201437728delCTCCACGCA	ENST00000367311.3	-	1	584_592	c.187_195delTGCGTGGAG	c.(187-195)tgcgtggagdel	p.CVE63del	PHLDA3_ENST00000485436.1_5'Flank|PHLDA3_ENST00000367309.1_In_Frame_Del_p.CVE63del	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	63	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						GCCCGGTGCTCTCCACGCACTCCACGGCC	0.689																																						uc001gwq.2		NaN																	0					0						c.(187-195)TGCGTGGAGdel		pleckstrin homology-like domain, family A,																																				SO:0001651	inframe_deletion	23612				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding	g.chr1:201437720_201437728delCTCCACGCA	AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"""pleckstrin homology-like domain, family A, member 2"""	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.187_195delTGCGTGGAG	1.37:g.201437720_201437728delCTCCACGCA	ENSP00000356280:p.Cys63_Glu65del					PHLDA3_uc009wzx.2_5'UTR	p.CVE63del	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN			1	572_580	-			63_65			PH.		B2R5A4|Q53HD6|Q8NBW9	In_Frame_Del	DEL	ENST00000367311.3	37	c.187_195delTGCGTGGAG	CCDS1412.1																																																																																				0.689	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087020.2		NM_012396		10	55	NaN	NaN	NaN	NaN	NaN	10	55	---	---
IL19	29949	broad.mit.edu	37	1	207013293	207013294	+	In_Frame_Ins	INS	-	-	ATC			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr1:207013293_207013294insATC	ENST00000270218.6	+	5	1248_1249	c.309_310insATC	c.(310-312)atc>ATCatc	p.104_104I>II	IL19_ENST00000340758.2_In_Frame_Ins_p.142_142I>II	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	104					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCTTGAGAAAAATCAGCAGCAT	0.505																																						uc001hep.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(307-312)insATC		interleukin 19 isoform 2 precursor																																				SO:0001652	inframe_insertion	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:207013293_207013294insATC	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.310_312dupATC	1.37:g.207013294_207013296dupATC	ENSP00000270218:p.Ile104dup					IL19_uc001heo.2_In_Frame_Ins_p.142_143insI|IL19_uc010prx.1_In_Frame_Ins_p.104_105insI	p.104_105insI	NM_013371	NP_037503	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		5	1248_1249	+			104_105					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	In_Frame_Ins	INS	ENST00000270218.6	37	c.309_310insATC	CCDS1469.1																																																																																				0.505	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2		NM_153758		57	102	NaN	NaN	NaN	NaN	NaN	57	102	---	---
ADM	133	broad.mit.edu	37	11	10327868	10327888	+	Splice_Site	DEL	CCCGCCCGCAGCAGTCCGGAT	CCCGCCCGCAGCAGTCCGGAT	-	rs2228573|rs201286035	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:10327868_10327888delCCCGCCCGCAGCAGTCCGGAT	ENST00000528655.1	+	3	865_875	c.248_258delCCCGCCCGCAGCAGTCCGGAT	c.(247-258)acccgcccgcag>a	p.TRPQ83del	ADM_ENST00000278175.5_Splice_Site_p.TRPQ83del|ADM_ENST00000530439.1_In_Frame_Del_p.PARSSPD12del|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000526492.1_In_Frame_Del_p.90_97PRPQQSGC>R|ADM_ENST00000525063.1_Splice_Site_p.TRPQ83del|ADM_ENST00000534464.1_Splice_Site_p.TRPQ36del			P35318	ADML_HUMAN	adrenomedullin	83					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		TCCCCCTCCCCCCGCCCGCAGCAGTCCGGATGCCGCCCGCA	0.638																																						uc001mik.1		NaN																	0				central_nervous_system(1)	1						c.e3-1		adrenomedullin precursor																																				SO:0001630	splice_region_variant	133				blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	g.chr11:10327868_10327888delCCCGCCCGCAGCAGTCCGGAT	D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"""Endogenous ligands"""	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.249-1CCCGCCCGCAGCAGTCCGGAT>-	11.37:g.10327868_10327888delCCCGCCCGCAGCAGTCCGGAT						ADM_uc001mil.1_Splice_Site_p.S83_splice|ADM_uc001mim.1_Splice_Site_p.S36_splice	p.S83_splice	NM_001124	NP_001115	P35318	ADML_HUMAN		all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)	3	866	+								B2R793|D3DQV3|Q6FGW2	Splice_Site	DEL	ENST00000528655.1	37	c.249_splice	CCDS7801.1																																																																																				0.638	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387008.1		NM_001124	In_Frame_Del	14	22	NaN	NaN	NaN	NaN	NaN	14	22	---	---
E2F8	79733	broad.mit.edu	37	11	19259556	19259570	+	In_Frame_Del	DEL	TGGTAGGTGTGGTTA	TGGTAGGTGTGGTTA	-	rs202133273	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr11:19259556_19259570delTGGTAGGTGTGGTTA	ENST00000527884.1	-	3	357_371	c.125_139delTAACCACACCTACCA	c.(124-141)ttaaccacacctaccaag>tag	p.42_47LTTPTK>*	E2F8_ENST00000250024.4_In_Frame_Del_p.42_47LTTPTK>*|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	42					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T43I(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTTGGGCTTGGTAGGTGTGGTTAAAGGGCCAAA	0.502																																						uc001mpm.2		NaN																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(124-141)TTAACCACACCTACCAAG>TAG		E2F family member 8																																				SO:0001651	inframe_deletion	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19259556_19259570delTGGTAGGTGTGGTTA		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.125_139delTAACCACACCTACCA	11.37:g.19259556_19259570delTGGTAGGTGTGGTTA	ENSP00000434199:p.Leu42_Lys47delins*					E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_In_Frame_Del_p.42_47LTTPTK>*|E2F8_uc001mpo.1_In_Frame_Del_p.42_47LTTPTK>*	p.42_47LTTPTK>*	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN			3	647_661	-			42_47					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	In_Frame_Del	DEL	ENST00000527884.1	37	c.125_139delTAACCACACCTACCA	CCDS7849.1																																																																																				0.502	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1		NM_024680		70	96	NaN	NaN	NaN	NaN	NaN	70	96	---	---
CPSF6	11052	broad.mit.edu	37	12	69652399	69652416	+	In_Frame_Del	DEL	GGTCCTCCAGGCCCACCT	GGTCCTCCAGGCCCACCT	-	rs376451525		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr12:69652399_69652416delGGTCCTCCAGGCCCACCT	ENST00000435070.2	+	6	834_851	c.724_741delGGTCCTCCAGGCCCACCT	c.(724-741)ggtcctccaggcccacctdel	p.GPPGPP248del	CPSF6_ENST00000266679.8_In_Frame_Del_p.GPPGPP285del|CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	248	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TCCACCCTTAGGTCCTCCAGGCCCACCTGGTCCACCAG	0.491																																						uc001sut.3		NaN																	0					0						c.(724-741)GGTCCTCCAGGCCCACCTdel		cleavage and polyadenylation specific factor 6,																																				SO:0001651	inframe_deletion	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69652399_69652416delGGTCCTCCAGGCCCACCT	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.724_741delGGTCCTCCAGGCCCACCT	12.37:g.69652399_69652416delGGTCCTCCAGGCCCACCT	ENSP00000391774:p.Gly248_Pro253del					CPSF6_uc001suu.3_In_Frame_Del_p.GPPGPP285del|CPSF6_uc010stk.1_5'UTR	p.GPPGPP248del	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		6	834_851	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		248_253			Pro-rich.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	In_Frame_Del	DEL	ENST00000435070.2	37	c.724_741delGGTCCTCCAGGCCCACCT	CCDS8988.1																																																																																				0.491	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1		NM_007007		7	71	NaN	NaN	NaN	NaN	NaN	7	71	---	---
ZC3H13	23091	broad.mit.edu	37	13	46619528	46619529	+	Frame_Shift_Ins	INS	-	-	TGCTGTACTGCCAG			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr13:46619528_46619529insTGCTGTACTGCCAG	ENST00000242848.4	-	2	462_463	c.114_115insCTGGCAGTACAGCA	c.(112-117)gcagagfs	p.E39fs	ZC3H13_ENST00000282007.3_Frame_Shift_Ins_p.E39fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	39							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CAACTCACCTCTGCTGTACTGC	0.416																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NaN																	0				ovary(1)|lung(1)	2						c.(112-117)GCAGAGfs		zinc finger CCCH-type containing 13																																				SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46619528_46619529insTGCTGTACTGCCAG	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.101_114dupCTGGCAGTACAGCA	13.37:g.46619528_46619529insTGCTGTACTGCCAG	ENSP00000242848:p.Glu39fs					ZC3H13_uc001vas.1_Frame_Shift_Ins_p.A38fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.A38fs	p.A38fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	1	120_121	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	38_39			C3H1-type.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Ins	INS	ENST00000242848.4	37	c.114_115insCTGGCAGTACAGCA																																																																																					0.416	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1		NM_015070		25	178	NaN	NaN	NaN	NaN	NaN	25	178	---	---
CYP11A1	1583	broad.mit.edu	37	15	74628313	74628317	+	IGR	DEL	GCCCC	GCCCC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr15:74628313_74628317delGCCCC	ENST00000268053.6	-	0	1934				CCDC33_ENST00000398814.3_Frame_Shift_Del_p.EPL729fs|CCDC33_ENST00000321288.5_Intron|CCDC33_ENST00000268082.4_3'UTR|CCDC33_ENST00000558821.1_3'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CAGAGCTGGAGCCCCTGCTGCCCAG	0.634																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axo.2		NaN																	0				ovary(3)|skin(2)	5						c.(2185-2193)GAGCCCCTGfs		coiled-coil domain containing 33 isoform 1																																				SO:0001628	intergenic_variant	80125						protein binding	g.chr15:74628313_74628317delGCCCC	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716		15.37:g.74628313_74628317delGCCCC						CCDC33_uc002axp.2_Intron|CCDC33_uc002axq.2_3'UTR|CCDC33_uc002axr.2_3'UTR	p.E729fs	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			19	2581_2585	+			932_934					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Frame_Shift_Del	DEL	ENST00000268053.6	37	c.2187_2191delGCCCC	CCDS32291.1																																																																																				0.634	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1				22	65	NaN	NaN	NaN	NaN	NaN	22	65	---	---
DNAH3	55567	broad.mit.edu	37	16	21042362	21042366	+	Splice_Site	DEL	CTTAC	CTTAC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr16:21042362_21042366delCTTAC	ENST00000261383.3	-	37	5439		c.e37+1		DNAH3_ENST00000415178.1_Splice_Site	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3						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)		AGGGTCAATACTTACCTTTTTATTG	0.332																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.e37+1		dynein, axonemal, heavy chain 3																																				SO:0001630	splice_region_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21042362_21042366delCTTAC	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.5439+1GTAAG>-	16.37:g.21042362_21042366delCTTAC							p.K1813_splice	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	37	5439	-								O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Splice_Site	DEL	ENST00000261383.3	37	c.5439_splice	CCDS10594.1																																																																																				0.332	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539	Intron	32	23	NaN	NaN	NaN	NaN	NaN	32	23	---	---
TP53	7157	broad.mit.edu	37	17	7572963	7572963	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:7572963delT	ENST00000269305.4	-	11	1335	c.1146delA	c.(1144-1146)aaafs	p.K382fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.K382fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	382	Basic (repression of DNA-binding).|Interaction with CARM1.				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.K382fs*40(3)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGAACATGAGTTTTTTATGGC	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		12	Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	p.0?(7)|p.K382fs*40(3)|p.K382fs*13(2)|p.?(1)	central_nervous_system(4)|bone(4)|haematopoietic_and_lymphoid_tissue(2)|stomach(2)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(1144-1146)AAAfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							242.0	219.0	227.0					17																	7572963		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7572963delT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1146delA	17.37:g.7572963delT	ENSP00000269305:p.Lys382fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.K250fs|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.K382fs	p.K382fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	11	1340	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	382	K->R: Abolishes monomethylation by SETD8.|K->A: Abolishes acetylation by CREBBP.		Basic (repression of DNA-binding).|Interaction with CARM1.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.1146delA	CCDS11118.1																																																																																				0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		62	88	NaN	NaN	NaN	NaN	NaN	62	88	---	---
NFE2L1	4779	broad.mit.edu	37	17	46133814	46133814	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr17:46133814delG	ENST00000362042.3	+	3	1193	c.577delG	c.(577-579)gacfs	p.D193fs	NFE2L1_ENST00000536222.1_Frame_Shift_Del_p.D67fs|NFE2L1_ENST00000582155.1_Frame_Shift_Del_p.D35fs|NFE2L1_ENST00000583378.1_Frame_Shift_Del_p.D24fs|NFE2L1_ENST00000357480.5_Frame_Shift_Del_p.D193fs|NFE2L1_ENST00000585291.1_Frame_Shift_Del_p.D193fs|NFE2L1_ENST00000361665.3_Frame_Shift_Del_p.D182fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	193	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAGGTTTTTGACTATAGTCA	0.547																																						uc002imz.3		NaN																	0				skin(1)	1						c.(577-579)GACfs		nuclear factor erythroid 2-like 1							258.0	261.0	260.0					17																	46133814		2203	4300	6503	SO:0001589	frameshift_variant	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46133814delG	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.577delG	17.37:g.46133814delG	ENSP00000354855:p.Asp193fs					NFE2L1_uc002ina.3_Frame_Shift_Del_p.D193fs|NFE2L1_uc002inb.3_Frame_Shift_Del_p.D193fs|NFE2L1_uc010wle.1_Frame_Shift_Del_p.D35fs|NFE2L1_uc010wlf.1_Frame_Shift_Del_p.D67fs|NFE2L1_uc002inc.1_Frame_Shift_Del_p.D182fs	p.D193fs	NM_003204	NP_003195	Q14494	NF2L1_HUMAN			3	1228	+			193			Asp/Glu-rich (acidic).		D3DTU3|D3DTU5|Q12877|Q96FN6	Frame_Shift_Del	DEL	ENST00000362042.3	37	c.577delG	CCDS11524.1																																																																																				0.547	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1		NM_003204		73	288	NaN	NaN	NaN	NaN	NaN	73	288	---	---
CXXC1	30827	broad.mit.edu	37	18	47812527	47812533	+	Frame_Shift_Del	DEL	CCCTCCA	CCCTCCA	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr18:47812527_47812533delCCCTCCA	ENST00000285106.6	-	4	1032_1038	c.318_324delTGGAGGG	c.(316-324)ggtggagggfs	p.GGG106fs	CXXC1_ENST00000589940.1_Frame_Shift_Del_p.GGG106fs|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000412036.2_Frame_Shift_Del_p.GGG106fs	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	106					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)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GCCTCTTGCGCCCTCCACCCTCATCCC	0.638																																						uc002leq.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(316-324)GGTGGAGGGfs		CXXC finger 1 (PHD domain) isoform 2																																				SO:0001589	frameshift_variant	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812527_47812533delCCCTCCA	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.318_324delTGGAGGG	18.37:g.47812527_47812533delCCCTCCA	ENSP00000285106:p.Gly106fs					CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Frame_Shift_Del_p.G106fs|CXXC1_uc010doy.2_Frame_Shift_Del_p.G106fs|CXXC1_uc002les.2_Frame_Shift_Del_p.G106fs	p.G106fs	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN			4	1051_1057	-			106_108					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Frame_Shift_Del	DEL	ENST00000285106.6	37	c.318_324delTGGAGGG	CCDS11945.1																																																																																				0.638	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2		NM_014593		39	62	NaN	NaN	NaN	NaN	NaN	39	62	---	---
CYP4F3	4051	broad.mit.edu	37	19	15757870	15757874	+	Frame_Shift_Del	DEL	GTACC	GTACC	-	rs150284363	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:15757870_15757874delGTACC	ENST00000221307.8	+	4	399_403	c.352_356delGTACC	c.(352-357)gtaccafs	p.VP118fs	CYP4F3_ENST00000586182.2_Frame_Shift_Del_p.VP118fs|CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.VP118fs|CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.VP118fs	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	118					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.P119T(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AGCTGCCATTGTACCAAAGGACAAG	0.566																																						uc002nbj.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(352-357)GTACCAfs		cytochrome P450, family 4, subfamily F,																																				SO:0001589	frameshift_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15757870_15757874delGTACC	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.352_356delGTACC	19.37:g.15757870_15757874delGTACC	ENSP00000221307:p.Val118fs					CYP4F3_uc010xok.1_Frame_Shift_Del_p.V118fs|CYP4F3_uc010xol.1_Frame_Shift_Del_p.V118fs|CYP4F3_uc010xom.1_5'UTR|CYP4F3_uc002nbk.2_Frame_Shift_Del_p.V118fs|CYP4F3_uc010xon.1_5'Flank	p.V118fs	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			4	402_406	+			118_119					B7Z8Z3|O60634|Q5U740	Frame_Shift_Del	DEL	ENST00000221307.8	37	c.352_356delGTACC	CCDS12332.1																																																																																				0.566	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3		NM_000896		20	79	NaN	NaN	NaN	NaN	NaN	20	79	---	---
HAMP	57817	broad.mit.edu	37	19	35773490	35773501	+	In_Frame_Del	DEL	AGCTCCCAGATC	AGCTCCCAGATC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:35773490_35773501delAGCTCCCAGATC	ENST00000598398.1	+	2	306_317	c.10_21delAGCTCCCAGATC	c.(10-21)agctcccagatcdel	p.SSQI4del	HAMP_ENST00000222304.3_In_Frame_Del_p.SSQI4del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	4					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GATGGCACTGAGCTCCCAGATCTGGGCCGCTT	0.623																																						uc002nyw.2		NaN																	0				central_nervous_system(1)	1						c.(10-21)AGCTCCCAGATCdel		hepcidin antimicrobial peptide preproprotein																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773490_35773501delAGCTCCCAGATC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.10_21delAGCTCCCAGATC	19.37:g.35773490_35773501delAGCTCCCAGATC	ENSP00000471894:p.Ser4_Ile7del						p.SSQI4del	NM_021175	NP_066998	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		1	81_92	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		4_7					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.10_21delAGCTCCCAGATC	CCDS12454.1																																																																																				0.623	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1		NM_021175		32	131	NaN	NaN	NaN	NaN	NaN	32	131	---	---
SLC27A5	10998	broad.mit.edu	37	19	59010912	59010912	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr19:59010912delG	ENST00000263093.2	-	7	1723	c.1614delC	c.(1612-1614)gccfs	p.A538fs	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Frame_Shift_Del_p.A454fs|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	538					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGCGGTCCATGGCCAGTACGT	0.692																																						uc002qtc.2		NaN																	0					0						c.(1612-1614)GCCfs		solute carrier family 27 (fatty acid							80.0	73.0	76.0					19																	59010912		2203	4300	6503	SO:0001589	frameshift_variant	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59010912delG	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1614delC	19.37:g.59010912delG	ENSP00000263093:p.Ala538fs					SLC27A5_uc002qtb.2_5'Flank	p.A538fs	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	7	1724	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	538			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Frame_Shift_Del	DEL	ENST00000263093.2	37	c.1614delC	CCDS12983.1																																																																																				0.692	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1		NM_012254		33	45	NaN	NaN	NaN	NaN	NaN	33	45	---	---
CABIN1	23523	broad.mit.edu	37	22	24572198	24572215	+	In_Frame_Del	DEL	GCAGAGGCTGCCCTGGGC	GCAGAGGCTGCCCTGGGC	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:24572198_24572215delGCAGAGGCTGCCCTGGGC	ENST00000398319.2	+	35	6545_6562	c.6160_6177delGCAGAGGCTGCCCTGGGC	c.(6160-6177)gcagaggctgccctgggcdel	p.AEAALG2054del	CABIN1_ENST00000337989.7_Intron|CABIN1_ENST00000405822.2_In_Frame_Del_p.AEAALG1975del|CABIN1_ENST00000263119.5_In_Frame_Del_p.AEAALG2054del	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2054					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						CTGCTGGCCGGCAGAGGCTGCCCTGGGCACAGGCGCTG	0.693																																						uc002zzi.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(6160-6177)GCAGAGGCTGCCCTGGGCdel		calcineurin binding protein 1																																				SO:0001651	inframe_deletion	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24572198_24572215delGCAGAGGCTGCCCTGGGC	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.6160_6177delGCAGAGGCTGCCCTGGGC	22.37:g.24572198_24572215delGCAGAGGCTGCCCTGGGC	ENSP00000381364:p.Ala2054_Gly2059del					CABIN1_uc002zzj.1_In_Frame_Del_p.AEAALG1975del|CABIN1_uc002zzl.1_In_Frame_Del_p.AEAALG2054del|CABIN1_uc010gul.1_Intron	p.AEAALG2054del	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			35	6287_6304	+			2054_2059					G5E9F3|Q6PHY0|Q9Y460	In_Frame_Del	DEL	ENST00000398319.2	37	c.6160_6177delGCAGAGGCTGCCCTGGGC	CCDS13823.1																																																																																				0.693	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2		NM_012295		7	2	NaN	NaN	NaN	NaN	NaN	7	2	---	---
SOX10	6663	broad.mit.edu	37	22	38374040	38374040	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr22:38374040delC	ENST00000396884.2	-	3	813	c.531delG	c.(529-531)cggfs	p.R178fs	POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Frame_Shift_Del_p.R178fs|POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000470555.1_5'Flank	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	178					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CGTTCTTCCGCCGCCTGGGCT	0.667																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	uc003aun.1		NaN																	0					0						c.(529-531)CGGfs		SRY (sex determining region Y)-box 10							29.0	27.0	28.0					22																	38374040		2202	4300	6502	SO:0001589	frameshift_variant	6663					cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	g.chr22:38374040delC		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.531delG	22.37:g.38374040delC	ENSP00000380093:p.Arg178fs					POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Frame_Shift_Del_p.R177fs	p.R177fs	NM_006941	NP_008872	P56693	SOX10_HUMAN			3	809	-	Melanoma(58;0.045)		177					B4DV62|Q6FHW7	Frame_Shift_Del	DEL	ENST00000396884.2	37	c.531delG	CCDS13964.1																																																																																				0.667	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1		NM_006941		9	10	NaN	NaN	NaN	NaN	NaN	9	10	---	---
ZFYVE28	57732	broad.mit.edu	37	4	2273431	2273439	+	In_Frame_Del	DEL	GCCAGTTCA	GCCAGTTCA	-	rs369443432		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:2273431_2273439delGCCAGTTCA	ENST00000290974.2	-	11	2730_2738	c.2391_2399delTGAACTGGC	c.(2389-2400)tctgaactggca>tca	p.ELA798del	ZFYVE28_ENST00000511071.1_In_Frame_Del_p.ELA768del|ZFYVE28_ENST00000508471.1_In_Frame_Del_p.ELA103del|ZFYVE28_ENST00000515312.1_In_Frame_Del_p.ELA728del	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	798					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGTCTTGGCTGCCAGTTCAGAGGATGACA	0.627																																						uc003gex.1		NaN																	0				skin(2)|ovary(1)	3						c.(2389-2400)TCTGAACTGGCA>TCA		zinc finger, FYVE domain containing 28																																				SO:0001651	inframe_deletion	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2273431_2273439delGCCAGTTCA	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2391_2399delTGAACTGGC	4.37:g.2273431_2273439delGCCAGTTCA	ENSP00000290974:p.Glu798_Ala800del					ZFYVE28_uc011bvk.1_In_Frame_Del_p.ELA728del|ZFYVE28_uc011bvl.1_In_Frame_Del_p.ELA768del|ZFYVE28_uc003gew.1_In_Frame_Del_p.ELA684del	p.ELA798del	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			11	2710_2718	-			798_800					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	In_Frame_Del	DEL	ENST00000290974.2	37	c.2391_2399delTGAACTGGC	CCDS33942.1																																																																																				0.627	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1		XM_035371		40	128	NaN	NaN	NaN	NaN	NaN	40	128	---	---
SLC10A4	201780	broad.mit.edu	37	4	48485996	48486009	+	Frame_Shift_Del	DEL	CTGCTGGCAGCGCT	CTGCTGGCAGCGCT	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:48485996_48486009delCTGCTGGCAGCGCT	ENST00000273861.4	+	1	637_650	c.418_431delCTGCTGGCAGCGCT	c.(418-432)ctgctggcagcgctcfs	p.LLAAL140fs		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGTGGGCGCGCTGCTGGCAGCGCTCTGCCAGTTC	0.715																																						uc003gyc.2		NaN																	0				central_nervous_system(1)	1						c.(418-432)CTGCTGGCAGCGCTCfs		solute carrier family 10, member 4																																				SO:0001589	frameshift_variant	201780					integral to membrane	bile acid:sodium symporter activity	g.chr4:48485996_48486009delCTGCTGGCAGCGCT	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.418_431delCTGCTGGCAGCGCT	4.37:g.48485996_48486009delCTGCTGGCAGCGCT	ENSP00000273861:p.Leu140fs						p.L140fs	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN			1	637_650	+			140_144			Helical; (Potential).		Q8WUZ2	Frame_Shift_Del	DEL	ENST00000273861.4	37	c.418_431delCTGCTGGCAGCGCT	CCDS3482.1																																																																																				0.715	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3		NM_152679		4	5	NaN	NaN	NaN	NaN	NaN	4	5	---	---
FHDC1	85462	broad.mit.edu	37	4	153896047	153896048	+	Frame_Shift_Ins	INS	-	-	C	rs551279175	byFrequency	TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr4:153896047_153896048insC	ENST00000511601.1	+	12	1792_1793	c.1604_1605insC	c.(1603-1608)aacaccfs	p.T536fs	FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.T536fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	536									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CGGCCCCCGAACACCCGCCGCT	0.663																																						uc003inf.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1603-1605)AACfs		FH2 domain containing 1																																				SO:0001589	frameshift_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153896047_153896048insC	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1605dupC	4.37:g.153896048_153896048dupC	ENSP00000427567:p.Thr536fs						p.N535fs	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			11	1679_1680	+	all_hematologic(180;0.093)		535						Frame_Shift_Ins	INS	ENST00000511601.1	37	c.1604_1605insC	CCDS34081.1																																																																																				0.663	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2		NM_033393		4	6	NaN	NaN	NaN	NaN	NaN	4	6	---	---
DNAH5	1767	broad.mit.edu	37	5	13841840	13841848	+	In_Frame_Del	DEL	ACCTGTTTC	ACCTGTTTC	-	rs199910966		TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:13841840_13841848delACCTGTTTC	ENST00000265104.4	-	33	5541_5549	c.5437_5445delGAAACAGGT	c.(5437-5445)gaaacaggtdel	p.ETG1813del		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1813	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T1814T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAGTTGGAAACCTGTTTCTTGAATATTT	0.388									Kartagener syndrome																													uc003jfd.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5437-5445)GAAACAGGTdel		dynein, axonemal, heavy chain 5																																				SO:0001651	inframe_deletion	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841840_13841848delACCTGTTTC	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5437_5445delGAAACAGGT	5.37:g.13841840_13841848delACCTGTTTC	ENSP00000265104:p.Glu1813_Gly1815del						p.ETG1813del	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			33	5479_5487	-	Lung NSC(4;0.00476)		1813_1815			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	In_Frame_Del	DEL	ENST00000265104.4	37	c.5437_5445delGAAACAGGT	CCDS3882.1																																																																																				0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		24	76	NaN	NaN	NaN	NaN	NaN	24	76	---	---
AFF4	27125	broad.mit.edu	37	5	132216839	132216840	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:132216839_132216840insT	ENST00000265343.5	-	21	3782_3783	c.3403_3404insA	c.(3403-3405)atcfs	p.I1135fs		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1135					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCATTAAAGATGAGAGGGCCC	0.381																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NaN																	0				ovary(2)|kidney(2)|skin(1)	5						c.(3403-3405)ATCfs		ALL1 fused gene from 5q31																																				SO:0001589	frameshift_variant	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132216839_132216840insT	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.3404dupA	5.37:g.132216840_132216840dupT	ENSP00000265343:p.Ile1135fs					AFF4_uc011cxk.1_Frame_Shift_Ins_p.I813fs	p.I1135fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		21	3811_3812	-		all_cancers(142;0.145)|Breast(839;0.198)	1135					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Frame_Shift_Ins	INS	ENST00000265343.5	37	c.3403_3404insA	CCDS4164.1																																																																																				0.381	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1		NM_014423		15	30	NaN	NaN	NaN	NaN	NaN	15	30	---	---
PCDHGC4	56098	broad.mit.edu	37	5	140865328	140865328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr5:140865328delG	ENST00000306593.1	+	1	588	c.588delG	c.(586-588)ctgfs	p.L196fs	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	196	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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCTCCTGGAGAAGCCTT	0.587																																						uc003lky.1		NaN																	0				ovary(4)	4						c.(586-588)CTGfs		protocadherin gamma subfamily C, 4 isoform 1							35.0	39.0	38.0					5																	140865328		2203	4300	6503	SO:0001589	frameshift_variant	56098				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140865328delG	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.588delG	5.37:g.140865328delG	ENSP00000306918:p.Leu196fs					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_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Frame_Shift_Del_p.L196fs	p.L196fs	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	588	+			196			Extracellular (Potential).|Cadherin 2.		Q495T2|Q9Y5C3	Frame_Shift_Del	DEL	ENST00000306593.1	37	c.588delG	CCDS4262.1																																																																																				0.587	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1		NM_018928		10	56	NaN	NaN	NaN	NaN	NaN	10	56	---	---
INTS1	26173	broad.mit.edu	37	7	1517411	1517412	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:1517411_1517412insC	ENST00000404767.3	-	34	4876_4877	c.4791_4792insG	c.(4789-4794)gggaagfs	p.K1598fs	INTS1_ENST00000389470.4_Frame_Shift_Ins_p.K1797fs	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1598					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCACCCGGCTTCCCCCCAGCCA	0.693																																						uc003skn.2		NaN																	0					0						c.(4789-4794)GGGAAGfs		integrator complex subunit 1																																				SO:0001589	frameshift_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1517411_1517412insC	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4792dupG	7.37:g.1517417_1517417dupC	ENSP00000385722:p.Lys1598fs					INTS1_uc003skm.1_5'Flank	p.G1597fs	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	34	4892_4893	-		Ovarian(82;0.0253)	1597_1598					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Frame_Shift_Ins	INS	ENST00000404767.3	37	c.4791_4792insG	CCDS47526.1																																																																																				0.693	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1				20	27	NaN	NaN	NaN	NaN	NaN	20	27	---	---
GIMAP2	26157	broad.mit.edu	37	7	150390132	150390133	+	Frame_Shift_Ins	INS	-	-	CACAC			TCGA-GC-A3RC-01A-11D-A22Z-08	TCGA-GC-A3RC-10B-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e399c9d1-d101-470f-8d30-af5ec870e95a	babe33dd-2e55-4cc6-bb64-00b6fd1106f3	g.chr7:150390132_150390133insCACAC	ENST00000223293.5	+	3	852_853	c.758_759insCACAC	c.(757-762)tacacafs	p.-254fs		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAAAGAAGTTACACAGCCTTGG	0.371																																						uc003who.2		NaN																	0				skin(1)	1						c.(757-759)TACfs		GTPase, IMAP family member 2																																				SO:0001589	frameshift_variant	26157					integral to membrane	GTP binding	g.chr7:150390132_150390133insCACAC	AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"""GTPases, IMAP"""	21789	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 12"""	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	Exception_encountered	7.37:g.150390132_150390133insCACAC	ENSP00000223293:p.Thr254fs					GIMAP1_uc003whp.2_Intron	p.Y253fs	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	846_847	+			253					Q96L25	Frame_Shift_Ins	INS	ENST00000223293.5	37	c.758_759insCACAC	CCDS5905.1																																																																																				0.371	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348948.1		NM_015660		14	71	NaN	NaN	NaN	NaN	NaN	14	71	---	---
