#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
TAS1R3	83756	broad.mit.edu	37	1	1267276	1267276	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:1267276C>T	ENST00000339381.5	+	2	482	c.450C>T	c.(448-450)gcC>gcT	p.A150A		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	150					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)		CAGAGCTCGCCATGGTCACCG	0.677																																						uc010nyk.1		NaN																	0					0						c.(448-450)GCC>GCT		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						43.0	47.0	46.0					1																	1267276		2199	4296	6495	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.chr1:1267276C>T	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.450C>T	1.37:g.1267276C>T							p.A150A	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)	2	450	+	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)	150			Extracellular (Potential).		Q5TA49|Q8NGW9	Silent	SNP	ENST00000339381.5	37	c.450C>T	CCDS30556.1																																																																																				0.677	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1				17	61	0	0	0	0.012319	0	17	61		
GNB1	2782	broad.mit.edu	37	1	1749278	1749278	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:1749278G>T	ENST00000378609.4	-	4	425	c.94C>A	c.(94-96)Cag>Aag	p.Q32K		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	32					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCTCTTACCTGAGAGAGAGTT	0.547																																						uc001aif.2		NaN																	0					0						c.(94-96)CAG>AAG		guanine nucleotide-binding protein, beta-1							84.0	71.0	76.0					1																	1749278		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1749278G>T	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.94C>A	1.37:g.1749278G>T	ENSP00000367872:p.Gln32Lys					GNB1_uc009vky.2_Intron	p.Q32K	NM_002074	NP_002065	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	4	426	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	32					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.94C>A	CCDS34.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821467	0.50633	.	.	ENSG00000078369	ENST00000378609;ENST00000378606;ENST00000434686;ENST00000437146	T;T;T	0.01287	5.05;5.05;5.05	4.92	4.92	0.64577	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.02533	0.0077	L	0.58969	1.84	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53906	-0.8372	10	0.28530	T	0.3	-14.7321	16.6803	0.85290	0.0:0.0:1.0:0.0	.	32	P62873	GBB1_HUMAN	K	32	ENSP00000367872:Q32K;ENSP00000392765:Q32K;ENSP00000416651:Q32K	ENSP00000367869:Q32K	Q	-	1	0	GNB1	1739138	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.039000	0.93777	2.284000	0.76573	0.655000	0.94253	CAG		0.547	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3		NM_002074		3	58	1	0	0.00909568	0.009096	0.00928131	3	58		
ICMT	23463	broad.mit.edu	37	1	6293642	6293642	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:6293642G>A	ENST00000343813.5	-	3	374	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	LINC00337_ENST00000441724.1_RNA	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	116					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671)			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AGACTTTTGGGATTATTGACT	0.398																																						uc001amk.2		NaN																	0					0						c.(346-348)CCC>TCC		isoprenylcysteine carboxyl methyltransferase							99.0	99.0	99.0					1																	6293642		2203	4300	6503	SO:0001583	missense	23463				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity	g.chr1:6293642G>A	AF064084	CCDS61.1	1p36	2010-04-29			ENSG00000116237	ENSG00000116237	2.1.1.100		5350	protein-coding gene	gene with protein product	"""protein-S-isoprenylcysteine O-methyltransferase"""	605851				9614111, 10441503	Standard	XM_005263437		Approved	PCCMT, HSTE14, PPMT	uc001amk.3	O60725	OTTHUMG00000001254	ENST00000343813.5:c.346C>T	1.37:g.6293642G>A	ENSP00000343552:p.Pro116Ser					ICMT_uc001aml.2_Missense_Mutation_p.P20S	p.P116S	NM_012405	NP_036537	O60725	ICMT_HUMAN		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	3	419	-	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	116					Q6FHT0	Missense_Mutation	SNP	ENST00000343813.5	37	c.346C>T	CCDS61.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084352	0.94100	.	.	ENSG00000116237	ENST00000343813;ENST00000535068	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	M	0.80183	2.485	0.80722	D	1	P	0.43314	0.803	P	0.45138	0.471	T	0.73560	-0.3944	9	0.46703	T	0.11	.	18.9014	0.92444	0.0:0.0:1.0:0.0	.	116	O60725	ICMT_HUMAN	S	116;20	.	ENSP00000343552:P116S	P	-	1	0	ICMT	6216229	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	9.599000	0.98280	2.721000	0.93114	0.655000	0.94253	CCC		0.398	ICMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003681.1		NM_012405		6	74	0	0	0	0.001984	0	6	74		
SPEN	23013	broad.mit.edu	37	1	16262633	16262633	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:16262633G>T	ENST00000375759.3	+	11	10102	c.9898G>T	c.(9898-9900)Ggg>Tgg	p.G3300W		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3300	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCACTCCAGCGGGGAGCTGTT	0.627																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(9898-9900)GGG>TGG		spen homolog, transcriptional regulator							87.0	90.0	89.0					1																	16262633		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16262633G>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.9898G>T	1.37:g.16262633G>T	ENSP00000364912:p.Gly3300Trp					SPEN_uc010obp.1_Missense_Mutation_p.G3259W	p.G3300W	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	10102	+		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)	3300			Pro-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.9898G>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371231	0.42003	.	.	ENSG00000065526	ENST00000375759	T	0.15603	2.41	5.3	4.38	0.52667	.	.	.	.	.	T	0.40670	0.1126	M	0.69823	2.125	0.38776	D	0.954653	D	0.89917	1.0	D	0.91635	0.999	T	0.44436	-0.9328	9	0.66056	D	0.02	-12.5301	13.5425	0.61684	0.0:0.0:0.718:0.282	.	3300	Q96T58	MINT_HUMAN	W	3300	ENSP00000364912:G3300W	ENSP00000364912:G3300W	G	+	1	0	SPEN	16135220	0.804000	0.28969	0.874000	0.34290	0.983000	0.72400	1.062000	0.30555	1.191000	0.43056	0.655000	0.94253	GGG		0.627	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		17	162	1	0	5.3912e-06	0.006122	5.72517e-06	17	162		
UBR4	23352	broad.mit.edu	37	1	19454159	19454159	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:19454159G>A	ENST00000375254.3	-	63	9213	c.9186C>T	c.(9184-9186)ttC>ttT	p.F3062F	UBR4_ENST00000375267.2_Silent_p.F3062F|UBR4_ENST00000375217.2_Silent_p.F3055F|UBR4_ENST00000375226.2_Silent_p.F3038F	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3062					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)		TGCGGGACATGAAGACACTCA	0.488																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(9184-9186)TTC>TTT		retinoblastoma-associated factor 600							193.0	185.0	187.0					1																	19454159		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.chr1:19454159G>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.9186C>T	1.37:g.19454159G>A						UBR4_uc001bbk.1_Silent_p.F709F	p.F3062F	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)	63	9190	-		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)	3062					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.9186C>T	CCDS189.1																																																																																				0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		10	102	0	0	0	0.008291	0	10	102		
EIF4G3	8672	broad.mit.edu	37	1	21154159	21154159	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:21154159C>G	ENST00000264211.8	-	26	4246	c.4052G>C	c.(4051-4053)aGa>aCa	p.R1351T	EIF4G3_ENST00000537738.1_Missense_Mutation_p.R841T|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R1071T|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R955T|EIF4G3_ENST00000602326.1_Missense_Mutation_p.R1357T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1357T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1351T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1351					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GACCCCAGCTCTTCCAACAGG	0.388																																						uc001bec.2		NaN																	0				skin(1)	1						c.(4051-4053)AGA>ACA		eukaryotic translation initiation factor 4							89.0	83.0	85.0					1																	21154159		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21154159C>G	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4052G>C	1.37:g.21154159C>G	ENSP00000264211:p.Arg1351Thr					EIF4G3_uc010odi.1_Missense_Mutation_p.R955T|EIF4G3_uc010odj.1_Missense_Mutation_p.R1350T|EIF4G3_uc009vpz.2_Missense_Mutation_p.R1071T|EIF4G3_uc001bed.2_Missense_Mutation_p.R1351T|EIF4G3_uc001bef.2_Missense_Mutation_p.R1387T|EIF4G3_uc001bee.2_Missense_Mutation_p.R1357T	p.R1351T	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	27	4308	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1351					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.4052G>C	CCDS214.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866444	0.51588	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000435383	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.48	4.57	0.56435	Armadillo-type fold (1);	0.314628	0.35262	N	0.003328	T	0.36908	0.0984	L	0.38531	1.155	0.80722	D	1	P;P;P;D;P	0.53619	0.839;0.57;0.609;0.961;0.469	B;B;B;B;B	0.44224	0.298;0.269;0.287;0.444;0.221	T	0.13899	-1.0492	10	0.40728	T	0.16	-2.7304	14.1552	0.65413	0.0:0.9276:0.0:0.0724	.	1546;1071;955;1357;1351	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	T	1351;1547;1351;1071;841;1357;955;117	ENSP00000264211:R1351T;ENSP00000383274:R1351T;ENSP00000364071:R1071T;ENSP00000442010:R841T;ENSP00000364073:R1357T;ENSP00000444693:R955T	ENSP00000264211:R1351T	R	-	2	0	EIF4G3	21026746	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.621000	0.61233	1.322000	0.45245	-0.218000	0.12543	AGA		0.388	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760		3	55	0	0	0	0.009096	0	3	55		
MYOM3	127294	broad.mit.edu	37	1	24418668	24418668	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:24418668C>T	ENST00000374434.3	-	11	1390	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	MYOM3_ENST00000330966.7_Missense_Mutation_p.E411K|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.E410K	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	410	Fibronectin type-III 1. {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)		ACTCACCGCTCAATGGTGTAG	0.602																																						uc001bin.3		NaN																	0				skin(2)|ovary(1)	3						c.(1228-1230)GAG>AAG		myomesin family, member 3							46.0	50.0	49.0					1																	24418668		1974	4144	6118	SO:0001583	missense	127294							g.chr1:24418668C>T	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.1228G>A	1.37:g.24418668C>T	ENSP00000363557:p.Glu410Lys					MYOM3_uc001bim.3_Missense_Mutation_p.E67K|MYOM3_uc001bio.2_Missense_Mutation_p.E410K|MYOM3_uc001bip.1_Missense_Mutation_p.E67K	p.E410K	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)	11	1391	-		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)	410			Fibronectin type-III 1.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.1228G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345770	0.82022	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.57752	0.38;0.38;0.38	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80363	0.4609	M	0.93594	3.435	0.50039	D	0.999848	D;D;D	0.89917	0.999;0.992;1.0	D;D;D	0.97110	0.992;0.939;1.0	D	0.85232	0.1033	10	0.72032	D	0.01	.	17.6886	0.88263	0.0:1.0:0.0:0.0	.	67;410;410	Q6ZU56;Q5VTT5-2;Q5VTT5	.;.;MYOM3_HUMAN	K	410;411;410	ENSP00000363557:E410K;ENSP00000332670:E411K;ENSP00000328415:E410K	ENSP00000328415:E410K	E	-	1	0	MYOM3	24291255	1.000000	0.71417	0.991000	0.47740	0.298000	0.27526	5.417000	0.66423	2.601000	0.87937	0.563000	0.77884	GAG		0.602	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372		10	75	0	0	0	0.00245	0	10	75		
PTPRF	5792	broad.mit.edu	37	1	44072610	44072610	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:44072610C>G	ENST00000359947.4	+	21	4168	c.3828C>G	c.(3826-3828)ctC>ctG	p.L1276L	PTPRF_ENST00000438120.1_Silent_p.L1267L|PTPRF_ENST00000372413.3_Silent_p.L1267L|PTPRF_ENST00000372414.3_Silent_p.L1276L|PTPRF_ENST00000422171.2_Silent_p.L624L|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1276					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCATCATCCTCATTGTCATCG	0.622																																						uc001cjr.2		NaN																	0				ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(3826-3828)CTC>CTG		protein tyrosine phosphatase, receptor type, F							199.0	148.0	165.0					1																	44072610		2203	4300	6503	SO:0001819	synonymous_variant	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44072610C>G	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3828C>G	1.37:g.44072610C>G						PTPRF_uc001cjs.2_Silent_p.L1267L|PTPRF_uc001cju.2_Silent_p.L654L|PTPRF_uc009vwt.2_Silent_p.L836L|PTPRF_uc001cjv.2_Silent_p.L736L|PTPRF_uc001cjw.2_Silent_p.L502L	p.L1276L	NM_002840	NP_002831	P10586	PTPRF_HUMAN			21	4168	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1276			Helical; (Potential).		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	ENST00000359947.4	37	c.3828C>G	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.421|9.421	1.083083|1.083083	0.20309|0.20309	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000412568;ENST00000414879|ENST00000429895	.|.	.|.	.|.	5.5|5.5	3.6|3.6	0.41247|0.41247	.|.	.|.	.|.	.|.	.|.	T|.	0.60183|.	0.2249|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.57888|.	-0.7733|.	4|.	.|.	.|.	.|.	.|.	10.177|10.177	0.42943|0.42943	0.0:0.7858:0.0:0.2142|0.0:0.7858:0.0:0.2142	.|.	.|.	.|.	.|.	D|X	649;690|922	.|.	.|.	H|S	+|+	1|2	0|0	PTPRF|PTPRF	43845197|43845197	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.442000|2.442000	0.44873|0.44873	1.478000|1.478000	0.48253|0.48253	0.555000|0.555000	0.69702|0.69702	CAT|TCA		0.622	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1				10	128	0	0	0	0.010729	0	10	128		
IPO13	9670	broad.mit.edu	37	1	44426671	44426671	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:44426671G>C	ENST00000372343.3	+	13	2895	c.2233G>C	c.(2233-2235)Gac>Cac	p.D745H		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	745					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTCTGCTCTTGACCTCACTCG	0.617																																						uc001ckx.2		NaN																	0				central_nervous_system(1)	1						c.(2233-2235)GAC>CAC		importin 13							79.0	67.0	71.0					1																	44426671		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44426671G>C	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2233G>C	1.37:g.44426671G>C	ENSP00000361418:p.Asp745His						p.D745H	NM_014652	NP_055467	O94829	IPO13_HUMAN			13	3028	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	745			HEAT 13.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.2233G>C	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969311	0.92855	.	.	ENSG00000117408	ENST00000372343	T	0.67171	-0.25	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74680	0.3748	M	0.64997	1.995	0.80722	D	1	D	0.57899	0.981	P	0.55545	0.778	T	0.67534	-0.5646	10	0.13470	T	0.59	-20.5958	19.6787	0.95950	0.0:0.0:1.0:0.0	.	745	O94829	IPO13_HUMAN	H	745	ENSP00000361418:D745H	ENSP00000361418:D745H	D	+	1	0	IPO13	44199258	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.523000	0.98034	2.884000	0.98904	0.655000	0.94253	GAC		0.617	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1		NM_014652		6	60	0	0	0	0.001168	0	6	60		
ATP6V0B	533	broad.mit.edu	37	1	44442265	44442265	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:44442265C>T	ENST00000472174.2	+	5	675	c.282C>T	c.(280-282)atC>atT	p.I94I	B4GALT2_ENST00000434555.2_5'Flank|ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000532642.1_Silent_p.I94I|ATP6V0B_ENST00000498664.1_Silent_p.I47I|B4GALT2_ENST00000372324.1_5'Flank|ATP6V0B_ENST00000236067.4_Silent_p.I47I|ATP6V0B_ENST00000471859.2_Silent_p.I141I	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	94					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CTACCAGCATCATCTTCTGTG	0.502																																						uc001cld.2		NaN																	0				breast(1)	1						c.(280-282)ATC>ATT		ATPase, H+ transporting, lysosomal 21kDa, V0							99.0	91.0	94.0					1																	44442265		2203	4300	6503	SO:0001819	synonymous_variant	533				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	g.chr1:44442265C>T	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.282C>T	1.37:g.44442265C>T						ATP6V0B_uc001clc.2_Silent_p.I94I|ATP6V0B_uc001cle.2_Silent_p.I47I|ATP6V0B_uc001clf.2_Silent_p.I47I|B4GALT2_uc001clg.2_5'Flank|B4GALT2_uc001clh.2_5'Flank	p.I94I	NM_004047	NP_004038	Q99437	VATO_HUMAN			5	393	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	94			Helical; (Potential).		D3DPY5|Q6IB32	Silent	SNP	ENST00000472174.2	37	c.282C>T	CCDS505.1																																																																																				0.502	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2		NM_004047		8	88	0	0	0	0.008291	0	8	88		
LRRC40	55631	broad.mit.edu	37	1	70618118	70618118	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:70618118G>C	ENST00000370952.3	-	12	1516	c.1437C>G	c.(1435-1437)ctC>ctG	p.L479L		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	479						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						ATAAATACCTGAGATCTAAAA	0.294																																						uc001der.1		NaN																	0				ovary(1)	1						c.(1435-1437)CTC>CTG		leucine rich repeat containing 40							61.0	59.0	60.0					1																	70618118		2203	4295	6498	SO:0001819	synonymous_variant	55631							g.chr1:70618118G>C		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1437C>G	1.37:g.70618118G>C							p.L479L	NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN			12	1489	-			479			LRR 16.		Q9BTR7|Q9NSK1|Q9NXC1	Silent	SNP	ENST00000370952.3	37	c.1437C>G	CCDS646.1																																																																																				0.294	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1		NM_017768		4	33	0	0	0	0.001168	0	4	33		
TGFBR3	7049	broad.mit.edu	37	1	92185617	92185617	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:92185617C>T	ENST00000525962.1	-	8	1307	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	TGFBR3_ENST00000212355.4_Missense_Mutation_p.E416K|TGFBR3_ENST00000370399.2_Missense_Mutation_p.E415K			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	416					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCTTCTCCCTCTTCATTCCAG	0.577																																						uc001doh.2		NaN																	0				ovary(3)	3						c.(1246-1248)GAG>AAG		transforming growth factor, beta receptor III							98.0	99.0	99.0					1																	92185617		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92185617C>T	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1246G>A	1.37:g.92185617C>T	ENSP00000436127:p.Glu416Lys					TGFBR3_uc009wde.2_Missense_Mutation_p.E193K|TGFBR3_uc010osy.1_Missense_Mutation_p.E374K|TGFBR3_uc001doi.2_Missense_Mutation_p.E415K|TGFBR3_uc001doj.2_Missense_Mutation_p.E415K	p.E416K	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	9	1712	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	416			Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1246G>A	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	8.389	0.839364	0.16891	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.38	4.24	0.50183	.	0.814258	0.11923	N	0.516473	T	0.03053	0.0090	N	0.02539	-0.55	0.25835	N	0.984123	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41538	-0.9503	10	0.06236	T	0.91	-2.3866	7.0756	0.25203	0.0:0.8024:0.0:0.1976	.	416;415;416	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	K	416;415;416;415	ENSP00000212355:E416K;ENSP00000359426:E415K;ENSP00000436127:E416K;ENSP00000432638:E415K	ENSP00000212355:E416K	E	-	1	0	TGFBR3	91958205	0.013000	0.17824	0.996000	0.52242	0.850000	0.48378	0.726000	0.25984	2.693000	0.91896	0.655000	0.94253	GAG		0.577	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1		NM_003243		7	84	0	0	0	0.001984	0	7	84		
VAV3	10451	broad.mit.edu	37	1	108417594	108417594	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:108417594C>T	ENST00000370056.4	-	2	524	c.250G>A	c.(250-252)Gag>Aag	p.E84K	VAV3_ENST00000371846.4_Missense_Mutation_p.E19K|VAV3_ENST00000527011.1_Missense_Mutation_p.E84K	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	84	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CCAAACGTCTCACAACAGGCC	0.358																																						uc001dvk.1		NaN																	0				ovary(5)|lung(2)|breast(2)	9						c.(250-252)GAG>AAG		vav 3 guanine nucleotide exchange factor isoform							87.0	83.0	84.0					1																	108417594		2203	4300	6503	SO:0001583	missense	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108417594C>T	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.250G>A	1.37:g.108417594C>T	ENSP00000359073:p.Glu84Lys					VAV3_uc010ouw.1_Missense_Mutation_p.E84K|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.E84K	p.E84K	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	2	304	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	84			CH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Missense_Mutation	SNP	ENST00000370056.4	37	c.250G>A	CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102485	0.76983	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000371846	T;T;T	0.30981	1.51;1.51;1.51	6.08	6.08	0.98989	Calponin homology domain (5);	0.320514	0.33144	N	0.005225	T	0.22475	0.0542	N	0.20530	0.585	0.35402	D	0.791679	B;B;P	0.36874	0.001;0.109;0.572	B;B;P	0.47118	0.035;0.092;0.538	T	0.06752	-1.0809	10	0.38643	T	0.18	.	19.2273	0.93822	0.0:1.0:0.0:0.0	.	84;84;84	B7ZLR1;E9PQ97;Q9UKW4	.;.;VAV3_HUMAN	K	84;84;19	ENSP00000359073:E84K;ENSP00000432540:E84K;ENSP00000360912:E19K	ENSP00000359073:E84K	E	-	1	0	VAV3	108219117	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	5.595000	0.67563	2.894000	0.99253	0.655000	0.94253	GAG		0.358	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2		NM_006113		7	54	0	0	0	0.004482	0	7	54		
AKNAD1	254268	broad.mit.edu	37	1	109366068	109366068	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:109366068C>T	ENST00000370001.3	-	13	2359	c.2091G>A	c.(2089-2091)caG>caA	p.Q697Q	AKNAD1_ENST00000369994.1_Silent_p.Q667Q|AKNAD1_ENST00000357393.4_Silent_p.Q404Q|AKNAD1_ENST00000369995.3_Silent_p.Q697Q|AKNAD1_ENST00000477908.1_5'Flank	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	697						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTGAGTAATTCTGTCCTGGAG	0.408																																						uc001dwa.2		NaN																	0				ovary(3)	3						c.(2089-2091)CAG>CAA		hypothetical protein LOC254268							141.0	142.0	141.0					1																	109366068		2203	4300	6503	SO:0001819	synonymous_variant	254268							g.chr1:109366068C>T	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2091G>A	1.37:g.109366068C>T						AKNAD1_uc010ovb.1_Silent_p.Q404Q|AKNAD1_uc001dwb.2_RNA	p.Q697Q	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			13	2360	-			697					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Silent	SNP	ENST00000370001.3	37	c.2091G>A	CCDS791.2																																																																																				0.408	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2		NM_152763		7	70	0	0	0	0.00308	0	7	70		
KCND3	3752	broad.mit.edu	37	1	112524975	112524975	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:112524975G>A	ENST00000315987.2	-	2	853	c.374C>T	c.(373-375)cCg>cTg	p.P125L	KCND3_ENST00000369697.1_Missense_Mutation_p.P125L|KCND3_ENST00000302127.4_Missense_Mutation_p.P125L	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	125					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GATGATCTCCGGGAGGATGCC	0.617																																						uc001ebu.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(373-375)CCG>CTG		potassium voltage-gated channel, Shal-related							79.0	72.0	74.0					1																	112524975		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524975G>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.374C>T	1.37:g.112524975G>A	ENSP00000319591:p.Pro125Leu					KCND3_uc001ebv.1_Missense_Mutation_p.P125L	p.P125L	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	2	854	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	125			Cytoplasmic (Potential).		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.374C>T	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733998	0.69189	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	T;T;T	0.76709	-1.04;-1.04;-1.04	5.61	5.61	0.85477	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.047417	0.85682	D	0.000000	T	0.72708	0.3494	M	0.63428	1.95	0.80722	D	1	P;P	0.39443	0.674;0.674	B;B	0.39531	0.288;0.302	T	0.78122	-0.2327	10	0.87932	D	0	.	19.2336	0.93849	0.0:0.0:1.0:0.0	.	125;125	Q14D71;Q9UK17	.;KCND3_HUMAN	L	125	ENSP00000358711:P125L;ENSP00000319591:P125L;ENSP00000306923:P125L	ENSP00000306923:P125L	P	-	2	0	KCND3	112326498	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.863000	0.87023	2.648000	0.89879	0.563000	0.77884	CCG		0.617	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1		NM_172198		9	103	0	0	0	0.006214	0	9	103		
SLC16A1	6566	broad.mit.edu	37	1	113459918	113459918	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:113459918G>C	ENST00000538576.1	-	4	1941	c.1110C>G	c.(1108-1110)ctC>ctG	p.L370L	SLC16A1_ENST00000369626.3_Silent_p.L370L|SLC16A1_ENST00000433570.4_Silent_p.L370L	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	370					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	ATACGGAGCTGAGCCACCCGA	0.488																																						uc001ecx.2		NaN																	0				central_nervous_system(1)	1						c.(1108-1110)CTC>CTG		solute carrier family 16, member 1	Pyruvic acid(DB00119)						57.0	51.0	53.0					1																	113459918		2203	4300	6503	SO:0001819	synonymous_variant	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113459918G>C	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1110C>G	1.37:g.113459918G>C						SLC16A1_uc001ecy.2_Silent_p.L370L|SLC16A1_uc001ecz.2_Silent_p.L370L	p.L370L	NM_003051	NP_003042	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	4	1942	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	370			Helical; (Potential).		Q49A45|Q5T8R6|Q9NSJ9	Silent	SNP	ENST00000538576.1	37	c.1110C>G	CCDS858.1																																																																																				0.488	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1		NM_003051		3	51	0	0	0	0.009096	0	3	51		
MAGI3	260425	broad.mit.edu	37	1	114226103	114226103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:114226103G>A	ENST00000307546.9	+	21	3988	c.3913G>A	c.(3913-3915)Gag>Aag	p.E1305K	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1330					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCAAATGCTGAGGCCAAATT	0.478																																						uc001edk.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(3913-3915)GAG>AAG		membrane-associated guanylate kinase-related  3							110.0	101.0	104.0					1																	114226103		1568	3582	5150	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114226103G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3913G>A	1.37:g.114226103G>A	ENSP00000304604:p.Glu1305Lys					MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA	p.E1305K	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	4094	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1330					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.3913G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029863	0.54790	.	.	ENSG00000081026	ENST00000307546;ENST00000546156	T	0.53857	0.6	5.61	1.66	0.24008	.	0.512907	0.18351	N	0.143890	T	0.13713	0.0332	L	0.27053	0.805	0.09310	N	1	B	0.30281	0.275	B	0.28232	0.087	T	0.24154	-1.0168	10	0.21014	T	0.42	-23.3614	6.043	0.19744	0.2277:0.1354:0.637:0.0	.	1305	Q5TCQ9-4	.	K	1305;345	ENSP00000304604:E1305K	ENSP00000304604:E1305K	E	+	1	0	MAGI3	114027626	0.006000	0.16342	0.000000	0.03702	0.802000	0.45316	0.253000	0.18296	0.056000	0.16144	-0.143000	0.13931	GAG		0.478	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1		NM_152900		7	94	0	0	0	0.00308	0	7	94		
PTPN22	26191	broad.mit.edu	37	1	114380651	114380651	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:114380651C>T	ENST00000359785.5	-	13	1506	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	PTPN22_ENST00000538253.1_Silent_p.Q213Q|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000525799.1_Silent_p.Q330Q|PTPN22_ENST00000420377.2_Silent_p.Q457Q|PTPN22_ENST00000528414.1_Silent_p.Q402Q	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	457					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGTTTCTCTCTGCTGTATCA	0.373																																						uc001eds.2		NaN																	0				kidney(2)|lung(1)|skin(1)	4						c.(1369-1371)CAG>CAA		protein tyrosine phosphatase, non-receptor type							99.0	96.0	97.0					1																	114380651		2203	4300	6503	SO:0001819	synonymous_variant	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114380651C>T	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1371G>A	1.37:g.114380651C>T						PTPN22_uc009wgq.2_Silent_p.Q402Q|PTPN22_uc010owo.1_Silent_p.Q213Q|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Silent_p.Q457Q|PTPN22_uc009wgs.2_Silent_p.Q330Q|PTPN22_uc001edu.2_Silent_p.Q457Q	p.Q457Q	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1501	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	457					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Silent	SNP	ENST00000359785.5	37	c.1371G>A	CCDS863.1																																																																																				0.373	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1		NM_015967		8	90	0	0	0	0.008291	0	8	90		
PTPN22	26191	broad.mit.edu	37	1	114380755	114380755	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:114380755C>G	ENST00000359785.5	-	13	1402	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q	PTPN22_ENST00000538253.1_Missense_Mutation_p.E179Q|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000525799.1_Missense_Mutation_p.E296Q|PTPN22_ENST00000420377.2_Missense_Mutation_p.E423Q|PTPN22_ENST00000528414.1_Missense_Mutation_p.E368Q	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	423					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACATCCCTCAAACAAAAGA	0.388																																						uc001eds.2		NaN																	0				kidney(2)|lung(1)|skin(1)	4						c.(1267-1269)GAG>CAG		protein tyrosine phosphatase, non-receptor type							73.0	77.0	76.0					1																	114380755		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114380755C>G	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1267G>C	1.37:g.114380755C>G	ENSP00000352833:p.Glu423Gln					PTPN22_uc009wgq.2_Missense_Mutation_p.E368Q|PTPN22_uc010owo.1_Missense_Mutation_p.E179Q|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.E423Q|PTPN22_uc009wgs.2_Missense_Mutation_p.E296Q|PTPN22_uc001edu.2_Missense_Mutation_p.E423Q	p.E423Q	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1397	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	423					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.1267G>C	CCDS863.1	.	.	.	.	.	.	.	.	.	.	C	4.540	0.100192	0.08731	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.72	2.83	0.33086	.	0.721190	0.13357	N	0.393949	T	0.07503	0.0189	L	0.29908	0.895	0.09310	N	1	P;P;P;B;P;B	0.50443	0.935;0.531;0.554;0.007;0.546;0.215	B;B;B;B;B;B	0.40602	0.18;0.124;0.192;0.003;0.334;0.179	T	0.11616	-1.0580	10	0.23302	T	0.38	.	6.4795	0.22055	0.0:0.6865:0.1515:0.162	.	179;296;423;368;423;423	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	Q	423;368;179;423;296;423	ENSP00000352833:E423Q;ENSP00000435176:E368Q;ENSP00000439372:E179Q;ENSP00000388229:E423Q;ENSP00000432674:E296Q	ENSP00000346621:E423Q	E	-	1	0	PTPN22	114182278	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.270000	0.18607	0.759000	0.33084	-0.176000	0.13171	GAG		0.388	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1		NM_015967		5	63	0	0	0	0.004482	0	5	63		
PTGFRN	5738	broad.mit.edu	37	1	117504176	117504176	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:117504176G>C	ENST00000393203.2	+	5	1672	c.1525G>C	c.(1525-1527)Gac>Cac	p.D509H	RNA5SP55_ENST00000516701.1_RNA	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	509	Ig-like C2-type 4.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TACAGAGGAAGACAGAGGCAA	0.463																																						uc001egv.1		NaN																	0				liver(1)	1						c.(1525-1527)GAC>CAC		prostaglandin F2 receptor negative regulator							88.0	84.0	86.0					1																	117504176		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117504176G>C	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1525G>C	1.37:g.117504176G>C	ENSP00000376899:p.Asp509His						p.D509H	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	5	1662	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	509			Extracellular (Potential).|Ig-like C2-type 4.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.1525G>C	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243390	0.79912	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.57907	0.37	5.35	5.35	0.76521	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68281	-0.5450	10	0.62326	D	0.03	-36.7023	16.5508	0.84472	0.0:0.0:1.0:0.0	.	509	Q9P2B2	FPRP_HUMAN	H	509;368	ENSP00000376899:D509H	ENSP00000376899:D509H	D	+	1	0	PTGFRN	117305699	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.842000	0.86851	2.514000	0.84764	0.305000	0.20034	GAC		0.463	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1		NM_020440		6	89	0	0	0	0.001984	0	6	89		
MAN1A2	10905	broad.mit.edu	37	1	118039474	118039474	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:118039474G>A	ENST00000356554.3	+	10	2109	c.1374G>A	c.(1372-1374)ggG>ggA	p.G458G		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	458					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		AAAAGATGGGGCATTTGGCCT	0.438																																					Ovarian(33;199 881 8228 13687 31538)	uc001ehd.1		NaN																	0					0						c.(1372-1374)GGG>GGA		mannosidase, alpha, class 1A, member 2							106.0	107.0	107.0					1																	118039474		2203	4299	6502	SO:0001819	synonymous_variant	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:118039474G>A	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.1374G>A	1.37:g.118039474G>A						MAN1A2_uc009whg.1_Silent_p.G248G	p.G458G	NM_006699	NP_006690	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	10	2095	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	458			Lumenal (Potential).		Q9H510	Silent	SNP	ENST00000356554.3	37	c.1374G>A	CCDS895.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.25|10.25	1.297248|1.297248	0.23650|0.23650	.|.	.|.	ENSG00000198162|ENSG00000198162	ENST00000421535|ENST00000449370	.|.	.|.	.|.	5.6|5.6	-2.37|-2.37	0.06643|0.06643	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.04770|0.04770	0.0129|0.0129	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35450|0.35450	-0.9788|-0.9788	4|6	.|0.02654	.|T	.|1	-16.0731|-16.0731	0.9171|0.9171	0.01307|0.01307	0.2358:0.1089:0.2914:0.3639|0.2358:0.1089:0.2914:0.3639	.|.	.|.	.|.	.|.	T|D	25|191	.|.	.|ENSP00000412706:G191D	A|G	+|+	1|2	0|0	MAN1A2|MAN1A2	117840997|117840997	0.153000|0.153000	0.22777|0.22777	0.996000|0.996000	0.52242|0.52242	0.986000|0.986000	0.74619|0.74619	-0.447000|-0.447000	0.06828|0.06828	-0.122000|-0.122000	0.11766|0.11766	-0.251000|-0.251000	0.11542|0.11542	GCA|GGC		0.438	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1		NM_006699		15	118	0	0	0	0.00499	0	15	118		
HAO2	51179	broad.mit.edu	37	1	119936422	119936422	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:119936422G>T	ENST00000325945.3	+	8	1088	c.1015G>T	c.(1015-1017)Gct>Tct	p.A339S	HAO2_ENST00000361035.4_Missense_Mutation_p.A352S|HAO2_ENST00000482991.1_3'UTR	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	339	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CCGGTCGGTCGCTGAGATCAA	0.478																																						uc001ehq.1		NaN																	0				ovary(2)|skin(2)	4						c.(1015-1017)GCT>TCT		hydroxyacid oxidase 2							205.0	188.0	194.0					1																	119936422		2203	4300	6503	SO:0001583	missense	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119936422G>T	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.1015G>T	1.37:g.119936422G>T	ENSP00000316339:p.Ala339Ser					HAO2_uc001ehr.1_Missense_Mutation_p.A339S	p.A339S	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	9	1367	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	339			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	c.1015G>T	CCDS901.1	.	.	.	.	.	.	.	.	.	.	G	0.286	-0.983092	0.02180	.	.	ENSG00000116882	ENST00000361035;ENST00000325945	T;T	0.29397	1.57;1.57	4.44	1.27	0.21489	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.247257	0.40640	N	0.001059	T	0.04452	0.0122	N	0.13168	0.305	0.21325	N	0.999727	B	0.02656	0.0	B	0.17722	0.019	T	0.39623	-0.9605	9	.	.	.	-7.6453	4.2606	0.10739	0.1972:0.0:0.5073:0.2955	.	339	Q9NYQ3	HAOX2_HUMAN	S	352;339	ENSP00000354314:A352S;ENSP00000316339:A339S	.	A	+	1	0	HAO2	119737945	0.077000	0.21312	0.128000	0.21923	0.133000	0.20885	0.906000	0.28517	0.610000	0.30035	0.563000	0.77884	GCT		0.478	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1		NM_001005783		11	168	1	0	0.000151284	0.001855	0.000157588	11	168		
Unknown	0	broad.mit.edu	37	1	144617158	144617158	+	IGR	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:144617158G>T								RP11-640M9.2 (11267 upstream) : NBPF9 (194585 downstream)																							AGAGTATGAAGAGTGTAAAGA	0.527																																						uc009wig.1		NaN																	0					0						c.(184-186)GAG>TAG		hypothetical protein LOC400818																																				SO:0001628	intergenic_variant	400818					cytoplasm		g.chr1:144617158G>T																													1.37:g.144617158G>T						NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_5'UTR|NBPF9_uc001eli.3_Intron|NBPF9_uc010oyf.1_5'UTR|NBPF9_uc010oyg.1_Intron|NBPF9_uc009wii.1_Intron	p.E62*	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			5	260	+			62						Nonsense_Mutation	SNP		37	c.184G>T																																																																																				0	0.527										15	157	1	0	0.000958276	0.007413	0.000986218	15	157		
PDE4DIP	9659	broad.mit.edu	37	1	144871824	144871824	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:144871824G>A	ENST00000369354.3	-	32	5327	c.5138C>T	c.(5137-5139)tCa>tTa	p.S1713L	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1849L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1798L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1713L|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1713					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.S1713L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGATGGAGCTGAGGGCAATGG	0.532			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		endometrium(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(5137-5139)TCA>TTA		phosphodiesterase 4D interacting protein isoform							101.0	105.0	103.0					1																	144871824		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144871824G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5138C>T	1.37:g.144871824G>A	ENSP00000358360:p.Ser1713Leu					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.S720L	p.S1713L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	32	5429	-			1713					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.5138C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	8.879	0.951145	0.18431	.	.	ENSG00000178104	ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T	0.01745	4.8;4.81;4.66;4.8	5.7	4.78	0.61160	.	.	.	.	.	T	0.01029	0.0034	L	0.54323	1.7	0.80722	D	1	P	0.35745	0.518	B	0.30401	0.115	T	0.57906	-0.7730	9	0.56958	D	0.05	.	11.0269	0.47751	0.0869:0.0:0.9131:0.0	.	1713	Q5VU43	MYOME_HUMAN	L	1713;1713;1798;1849	ENSP00000358360:S1713L;ENSP00000358363:S1713L;ENSP00000435654:S1798L;ENSP00000358366:S1849L	ENSP00000358360:S1713L	S	-	2	0	PDE4DIP	143583181	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.192000	0.65115	1.379000	0.46325	0.650000	0.86243	TCA		0.532	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		6	114	0	0	0	0.00308	0	6	114		
ECM1	1893	broad.mit.edu	37	1	150483939	150483939	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:150483939G>A	ENST00000369047.4	+	7	840	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	ECM1_ENST00000369049.4_Missense_Mutation_p.E266K|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Intron	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	239	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTAGTGGGAGGAAGCAATGAG	0.597																																					Melanoma(156;1696 2560 11093 19685)	uc001eus.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(715-717)GAA>AAA		extracellular matrix protein 1 isoform 1							106.0	104.0	105.0					1																	150483939		2203	4300	6503	SO:0001583	missense	1893				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	g.chr1:150483939G>A	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.715G>A	1.37:g.150483939G>A	ENSP00000358043:p.Glu239Lys					ECM1_uc010pce.1_3'UTR|ECM1_uc010pcf.1_3'UTR|ECM1_uc001eut.2_Intron|ECM1_uc001euu.2_Missense_Mutation_p.E268K|ECM1_uc001euv.2_Missense_Mutation_p.E266K|ECM1_uc009wlu.2_5'UTR	p.E239K	NM_004425	NP_004416	Q16610	ECM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		7	914	+	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)		239			2 X approximate repeats.|1.		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	c.715G>A	CCDS953.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712786	0.30413	.	.	ENSG00000143369	ENST00000369049;ENST00000369047	T;T	0.76839	-1.05;-1.05	4.29	1.25	0.21368	.	0.624292	0.16842	N	0.197309	T	0.35038	0.0918	N	0.11560	0.145	0.58432	D	0.999993	B;B;B	0.23185	0.01;0.08;0.081	B;B;B	0.25506	0.003;0.042;0.061	T	0.10941	-1.0608	10	0.32370	T	0.25	-7.6172	3.5913	0.07990	0.2138:0.0:0.5897:0.1965	.	266;239;239	Q16610-4;C8CHS3;Q16610	.;.;ECM1_HUMAN	K	266;239	ENSP00000358045:E266K;ENSP00000358043:E239K	ENSP00000358043:E239K	E	+	1	0	ECM1	148750563	0.965000	0.33210	0.829000	0.32907	0.914000	0.54420	0.141000	0.16076	0.166000	0.19597	0.561000	0.74099	GAA		0.597	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2		NM_004425		26	177	0	0	0	0.010818	0	26	177		
FLG2	388698	broad.mit.edu	37	1	152324512	152324512	+	Missense_Mutation	SNP	T	T	C	rs150834303		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:152324512T>C	ENST00000388718.5	-	3	5822	c.5750A>G	c.(5749-5751)aAg>aGg	p.K1917R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1917					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGTGTCTCTTGTGAACTGT	0.502																																						uc001ezw.3		NaN																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(5749-5751)AAG>AGG		filaggrin family member 2							362.0	327.0	339.0					1																	152324512		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324512T>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5750A>G	1.37:g.152324512T>C	ENSP00000373370:p.Lys1917Arg					uc001ezv.2_Intron	p.K1917R	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5823	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1917					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5750A>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	8.258	0.810473	0.16537	.	.	ENSG00000143520	ENST00000388718	T	0.01947	4.54	3.07	-0.103	0.13609	.	.	.	.	.	T	0.00356	0.0011	N	0.03608	-0.345	0.09310	N	1	B	0.21606	0.058	B	0.17722	0.019	T	0.43147	-0.9409	9	0.38643	T	0.18	4.0046	2.7183	0.05194	0.2235:0.5155:0.0:0.261	.	1917	Q5D862	FILA2_HUMAN	R	1917	ENSP00000373370:K1917R	ENSP00000373370:K1917R	K	-	2	0	FLG2	150591136	.	.	0.000000	0.03702	0.000000	0.00434	.	.	0.027000	0.15297	-0.302000	0.09304	AAG		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		19	269	0	0	0	0.010504	0	19	269		
INTS3	65123	broad.mit.edu	37	1	153701122	153701122	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:153701122G>A	ENST00000318967.2	+	1	580	c.12G>A	c.(10-12)caG>caA	p.Q4Q	INTS3_ENST00000456435.1_5'UTR|Y_RNA_ENST00000362695.1_RNA|INTS3_ENST00000435409.2_Silent_p.Q4Q	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	0					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGAGTTGCAGAAGGGAAAAG	0.647																																						uc009wom.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(10-12)CAG>CAA		integrator complex subunit 3							30.0	40.0	36.0					1																	153701122		2180	4268	6448	SO:0001819	synonymous_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153701122G>A	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.12G>A	1.37:g.153701122G>A						INTS3_uc001fct.2_Silent_p.Q4Q|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_5'UTR	p.Q4Q	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	233	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		4					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	37	c.12G>A	CCDS1052.1																																																																																				0.647	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2		NM_023015		8	68	0	0	0	0.006214	0	8	68		
INTS3	65123	broad.mit.edu	37	1	153701160	153701160	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:153701160G>T	ENST00000318967.2	+	1	618	c.50G>T	c.(49-51)gGa>gTa	p.G17V	INTS3_ENST00000456435.1_5'UTR|Y_RNA_ENST00000362695.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.G17V	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	0	Ala/Gly-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTGCTTCGggagcagcggga	0.622																																						uc009wom.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(49-51)GGA>GTA		integrator complex subunit 3							30.0	41.0	37.0					1																	153701160		2200	4296	6496	SO:0001583	missense	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153701160G>T	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.50G>T	1.37:g.153701160G>T	ENSP00000318641:p.Gly17Val					INTS3_uc001fct.2_Missense_Mutation_p.G17V|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_5'UTR	p.G17V	NM_023015	NP_075391	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	271	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		17			Ala/Gly-rich.		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	ENST00000318967.2	37	c.50G>T	CCDS1052.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011246	0.35511	.	.	ENSG00000143624	ENST00000318967;ENST00000435409	.	.	.	4.81	3.89	0.44902	.	.	.	.	.	T	0.38134	0.1029	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	T	0.51474	-0.8701	8	0.62326	D	0.03	.	10.3822	0.44119	0.0:0.0:0.8053:0.1947	.	17	Q68E01-2	.	V	17	.	ENSP00000318641:G17V	G	+	2	0	INTS3	151967784	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.602000	0.46257	1.233000	0.43693	0.455000	0.32223	GGA		0.622	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2		NM_023015		8	47	1	0	1.58986e-06	0.008291	1.70343e-06	8	47		
GATAD2B	57459	broad.mit.edu	37	1	153784519	153784519	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:153784519C>T	ENST00000368655.4	-	9	1752	c.1509G>A	c.(1507-1509)atG>atA	p.M503I		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	503					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TATGATGTCTCATGATGGTCT	0.458																																						uc001fdb.3		NaN																	0					0						c.(1507-1509)ATG>ATA		GATA zinc finger domain containing 2B							137.0	132.0	133.0					1																	153784519		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153784519C>T	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1509G>A	1.37:g.153784519C>T	ENSP00000357644:p.Met503Ile						p.M503I	NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		9	1753	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		503					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.1509G>A	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077314	0.36662	.	.	ENSG00000143614	ENST00000368655	T	0.28069	1.63	5.72	5.72	0.89469	.	0.119522	0.85682	D	0.000000	T	0.10337	0.0253	N	0.12182	0.205	0.46654	D	0.999148	B	0.02656	0.0	B	0.01281	0.0	T	0.10222	-1.0639	10	0.22706	T	0.39	-20.542	18.668	0.91499	0.0:1.0:0.0:0.0	.	503	Q8WXI9	P66B_HUMAN	I	503	ENSP00000357644:M503I	ENSP00000357644:M503I	M	-	3	0	GATAD2B	152051143	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.502000	0.53332	2.717000	0.92951	0.655000	0.94253	ATG		0.458	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1		NM_020699		9	155	0	0	0	0.003163	0	9	155		
AQP10	89872	broad.mit.edu	37	1	154296214	154296214	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:154296214C>T	ENST00000324978.3	+	5	679	c.639C>T	c.(637-639)ctC>ctT	p.L213L	AQP10_ENST00000484864.1_Silent_p.L213L|AQP10_ENST00000355197.4_3'UTR|ATP8B2_ENST00000368487.3_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	213					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGATTCCACTCAACCCTGCCC	0.642																																						uc001feu.2		NaN																	0				central_nervous_system(1)	1						c.(637-639)CTC>CTT		aquaporin 10							79.0	79.0	79.0					1																	154296214		2203	4300	6503	SO:0001819	synonymous_variant	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154296214C>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.639C>T	1.37:g.154296214C>T						AQP10_uc001fev.2_Silent_p.L213L|ATP8B2_uc001few.2_5'Flank	p.L213L	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	679	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		213			Extracellular (Potential).		Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	ENST00000324978.3	37	c.639C>T	CCDS1065.1																																																																																				0.642	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1		NM_080429		6	71	0	0	0	0.00308	0	6	71		
DAP3	7818	broad.mit.edu	37	1	155695260	155695260	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:155695260C>G	ENST00000368336.5	+	5	482	c.358C>G	c.(358-360)Cca>Gca	p.P120A	DAP3_ENST00000535183.1_Missense_Mutation_p.P79A|DAP3_ENST00000496863.1_3'UTR|DAP3_ENST00000421487.2_Missense_Mutation_p.P86A|DAP3_ENST00000343043.3_Missense_Mutation_p.P120A|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.P79A	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	120					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTTTGCTTATCCAGCTATACG	0.428																																						uc001flq.2		NaN																	0				ovary(1)	1						c.(358-360)CCA>GCA		death-associated protein 3							214.0	196.0	202.0					1																	155695260		2203	4300	6503	SO:0001583	missense	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155695260C>G	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.358C>G	1.37:g.155695260C>G	ENSP00000357320:p.Pro120Ala					DAP3_uc001flr.2_Missense_Mutation_p.P120A|DAP3_uc001fls.2_Missense_Mutation_p.P120A|DAP3_uc010pgl.1_Missense_Mutation_p.P79A|DAP3_uc001flt.2_Missense_Mutation_p.P86A|DAP3_uc001flu.2_Missense_Mutation_p.P120A|DAP3_uc010pgm.1_Missense_Mutation_p.P86A	p.P120A	NM_033657	NP_387506	P51398	RT29_HUMAN			5	527	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		120					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	c.358C>G	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784944	0.90282	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	M	0.73430	2.235	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	T	0.63332	-0.6661	10	0.87932	D	0	-12.587	19.5069	0.95121	0.0:1.0:0.0:0.0	.	79;86;86;120	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	A	120;120;86;79	ENSP00000357320:P120A;ENSP00000341692:P120A;ENSP00000412605:P86A;ENSP00000445003:P79A	ENSP00000341692:P120A	P	+	1	0	DAP3	153961884	0.999000	0.42202	0.927000	0.36925	0.900000	0.52787	6.374000	0.73132	2.941000	0.99782	0.655000	0.94253	CCA		0.428	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1		NM_004632		25	160	0	0	0	0.009535	0	25	160		
SLC25A44	9673	broad.mit.edu	37	1	156182917	156182917	+	IGR	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:156182917C>T	ENST00000359511.4	+	0	3482				PMF1-BGLAP_ENST00000490491.1_Silent_p.L37L|PMF1_ENST00000368273.4_Silent_p.L37L|PMF1_ENST00000567140.1_Silent_p.L37L|PMF1-BGLAP_ENST00000368276.4_Silent_p.L37L|PMF1_ENST00000368279.3_Silent_p.L37L|PMF1-BGLAP_ENST00000320139.5_Silent_p.L37L|PMF1_ENST00000368277.3_Silent_p.L37L|PMF1_ENST00000565805.1_Silent_p.L37L	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GGGTGAAGCTCCTCGACACCA	0.577																																						uc001fnq.2		NaN																	0					0						c.(109-111)CTC>CTT		polyamine-modulated factor 1							86.0	80.0	82.0					1																	156182917		2203	4300	6503	SO:0001628	intergenic_variant	11243				cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytosol|MIS12/MIND type complex|transcription factor complex	leucine zipper domain binding|transcription coactivator activity	g.chr1:156182917C>T	AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816		1.37:g.156182917C>T						PMF1_uc009wru.1_RNA|PMF1_uc001fnr.2_Silent_p.L37L|BGLAP_uc001fns.1_Silent_p.L37L	p.L37L	NM_007221	NP_009152	Q6P1K2	PMF1_HUMAN			1	134	+	Hepatocellular(266;0.158)		37					O75034	Silent	SNP	ENST00000359511.4	37	c.111C>T	CCDS1133.1																																																																																				0.577	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1		NM_014655		5	52	0	0	0	0.00308	0	5	52		
BCAN	63827	broad.mit.edu	37	1	156618580	156618580	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:156618580G>C	ENST00000329117.5	+	6	1326	c.990G>C	c.(988-990)aaG>aaC	p.K330N	BCAN_ENST00000361588.5_Missense_Mutation_p.K330N|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	330	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGGTGTCAAGACTCTCTTCC	0.617																																						uc001fpp.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(988-990)AAG>AAC		brevican isoform 1							109.0	106.0	107.0					1																	156618580		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156618580G>C	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.990G>C	1.37:g.156618580G>C	ENSP00000331210:p.Lys330Asn					BCAN_uc001fpo.2_Missense_Mutation_p.K330N	p.K330N	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			6	1326	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		330			Link 2.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.990G>C	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513319	0.64522	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000424639;ENST00000361588	T;T;T	0.09817	2.94;3.06;2.94	4.72	3.72	0.42706	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.084904	0.44483	D	0.000444	T	0.11410	0.0278	L	0.41710	1.295	0.45261	D	0.998266	D;D	0.76494	0.999;0.996	D;D	0.74674	0.984;0.958	T	0.01096	-1.1453	10	0.87932	D	0	-28.4246	4.7057	0.12848	0.268:0.0:0.732:0.0	.	330;330	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	N	271;330;228;330	ENSP00000331210:K330N;ENSP00000401709:K228N;ENSP00000354925:K330N	ENSP00000255029:K271N	K	+	3	2	BCAN	154885204	0.980000	0.34600	1.000000	0.80357	0.994000	0.84299	0.196000	0.17176	2.453000	0.82957	0.462000	0.41574	AAG		0.617	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2		NM_021948		21	209	0	0	0	0.003954	0	21	209		
OR10R2	343406	broad.mit.edu	37	1	158450115	158450115	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:158450115C>T	ENST00000368152.1	+	1	448	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	150						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(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTGTCACCCTCTGCATTACCC	0.468																																						uc010pik.1		NaN																	0				pancreas(2)|skin(1)	3						c.(448-450)CTG>TTG		olfactory receptor, family 10, subfamily R,							246.0	219.0	228.0					1																	158450115		2203	4300	6503	SO:0001819	synonymous_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450115C>T	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.448C>T	1.37:g.158450115C>T						uc001fso.1_RNA	p.L150L	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	448	+	all_hematologic(112;0.0378)		150			Cytoplasmic (Potential).		Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	ENST00000368152.1	37	c.448C>T	CCDS30898.1																																																																																				0.468	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2		NM_001004472		53	246	0	0	0	0.01441	0	53	246		
OR6N2	81442	broad.mit.edu	37	1	158747170	158747170	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:158747170G>A	ENST00000339258.1	-	1	255	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTCTCACTGAGAATATTAGAC	0.453																																						uc010pir.1		NaN																	0					0						c.(256-258)CTC>TTC		olfactory receptor, family 6, subfamily N,							150.0	144.0	146.0					1																	158747170		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747170G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.256C>T	1.37:g.158747170G>A	ENSP00000344101:p.Leu86Phe						p.L86F	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	256	-	all_hematologic(112;0.0378)		86			Extracellular (Potential).		Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.256C>T	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.371883	0.24857	.	.	ENSG00000188340	ENST00000339258	T	0.00479	7.12	5.17	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.243332	0.21510	N	0.073391	T	0.00178	0.0005	L	0.55103	1.725	0.35150	D	0.769698	B	0.20671	0.047	B	0.19666	0.026	T	0.50311	-0.8843	10	0.33141	T	0.24	-14.7676	11.0586	0.47933	0.0:0.14:0.7144:0.1455	.	86	Q8NGY6	OR6N2_HUMAN	F	86	ENSP00000344101:L86F	ENSP00000344101:L86F	L	-	1	0	OR6N2	157013794	0.002000	0.14202	1.000000	0.80357	0.948000	0.59901	0.042000	0.13949	0.726000	0.32339	-0.158000	0.13435	CTC		0.453	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1				9	146	0	0	0	0.006214	0	9	146		
AIM2	9447	broad.mit.edu	37	1	159035904	159035904	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:159035904C>G	ENST00000368130.4	-	4	900	c.612G>C	c.(610-612)aaG>aaC	p.K204N	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	204	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TAATTATTCTCTTTGGAATGA	0.358																																						uc001ftj.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(610-612)AAG>AAC		absent in melanoma 2							90.0	95.0	93.0					1																	159035904		2203	4300	6503	SO:0001583	missense	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159035904C>G	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.612G>C	1.37:g.159035904C>G	ENSP00000357112:p.Lys204Asn						p.K204N	NM_004833	NP_004824	O14862	AIM2_HUMAN			4	857	-	all_hematologic(112;0.0429)		204			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	c.612G>C	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	C	5.483	0.274201	0.10403	.	.	ENSG00000163568	ENST00000368130;ENST00000368129	T;T	0.14516	2.5;2.5	3.3	-2.7	0.06004	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.02418	0.0074	L	0.43152	1.355	0.09310	N	1	P	0.36330	0.548	B	0.34931	0.192	T	0.39583	-0.9607	9	0.26408	T	0.33	-11.7681	0.5589	0.00676	0.1806:0.2495:0.1782:0.3916	.	204	O14862	AIM2_HUMAN	N	204;67	ENSP00000357112:K204N;ENSP00000357111:K67N	ENSP00000357111:K67N	K	-	3	2	AIM2	157302528	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.257000	0.02866	-0.458000	0.07023	-0.310000	0.09108	AAG		0.358	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1		NM_004833		11	81	0	0	0	0.008291	0	11	81		
OR10J3	441911	broad.mit.edu	37	1	159284097	159284097	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:159284097A>G	ENST00000332217.5	-	1	352	c.353T>C	c.(352-354)gTc>gCc	p.V118A		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ATATCCCATGACTGTGAGCAG	0.522																																						uc010piu.1		NaN																	0				ovary(2)	2						c.(352-354)GTC>GCC		olfactory receptor, family 10, subfamily J,							100.0	97.0	98.0					1																	159284097		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284097A>G		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.353T>C	1.37:g.159284097A>G	ENSP00000331789:p.Val118Ala						p.V118A	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			1	353	-	all_hematologic(112;0.0429)		118			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000332217.5	37	c.353T>C	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	A	3.573	-0.087295	0.07097	.	.	ENSG00000196266	ENST00000332217	T	0.05580	3.42	5.4	0.0787	0.14413	GPCR, rhodopsin-like superfamily (1);	0.258955	0.20031	N	0.100715	T	0.00815	0.0027	N	0.13327	0.33	0.19945	N	0.99994	B	0.06786	0.001	B	0.12156	0.007	T	0.46162	-0.9211	10	0.09843	T	0.71	.	5.5025	0.16836	0.3303:0.136:0.5337:0.0	.	118	Q5JRS4	O10J3_HUMAN	A	118	ENSP00000331789:V118A	ENSP00000331789:V118A	V	-	2	0	OR10J3	157550721	0.000000	0.05858	0.483000	0.27378	0.864000	0.49448	0.098000	0.15189	0.113000	0.18004	-0.366000	0.07423	GTC		0.522	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1				9	118	0	0	0	0.013537	0	9	118		
VANGL2	57216	broad.mit.edu	37	1	160388962	160388962	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:160388962C>G	ENST00000368061.2	+	4	837	c.363C>G	c.(361-363)ctC>ctG	p.L121L		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	121					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTCTTTCCTCACGCCTCTGG	0.662																																						uc001fwb.1		NaN																	0				ovary(1)	1						c.(361-363)CTC>CTG		vang-like 2							60.0	59.0	59.0					1																	160388962		2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160388962C>G	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.363C>G	1.37:g.160388962C>G						VANGL2_uc001fwc.1_Silent_p.L121L	p.L121L	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	662	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		121			Helical; Name=1; (Potential).		D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.363C>G	CCDS30915.1																																																																																				0.662	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1		NM_020335		6	110	0	0	0	0.00308	0	6	110		
C1orf111	284680	broad.mit.edu	37	1	162343919	162343919	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:162343919G>A	ENST00000367935.5	-	3	784	c.705C>T	c.(703-705)ctC>ctT	p.L235L	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	235										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TGCCGGAGGAGAGCCTGTCTC	0.552																																						uc001gbx.2		NaN																	0				ovary(1)	1						c.(703-705)CTC>CTT		hypothetical protein LOC284680							114.0	121.0	119.0					1																	162343919		2203	4300	6503	SO:0001819	synonymous_variant	284680							g.chr1:162343919G>A	BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.705C>T	1.37:g.162343919G>A							p.L235L	NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0938)		3	769	-	all_hematologic(112;0.15)		235					Q6X961|Q8NEC3	Silent	SNP	ENST00000367935.5	37	c.705C>T	CCDS1238.1																																																																																				0.552	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2		NM_182581		10	243	0	0	0	0.010729	0	10	243		
UAP1	6675	broad.mit.edu	37	1	162549315	162549315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:162549315C>T	ENST00000367925.1	+	3	615	c.583C>T	c.(583-585)Cag>Tag	p.Q195*	UAP1_ENST00000367926.4_Nonsense_Mutation_p.Q195*|UAP1_ENST00000367924.1_Nonsense_Mutation_p.Q195*|UAP1_ENST00000271469.3_Nonsense_Mutation_p.Q195*			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	195					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AATCTTTTTTCAGCAAGGAAT	0.358																																						uc001gce.3		NaN																	0				ovary(2)|skin(2)|kidney(1)	5						c.(583-585)CAG>TAG		UDP-N-acetylglucosamine pyrophosphorylase 1							73.0	75.0	74.0					1																	162549315		2203	4300	6503	SO:0001587	stop_gained	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162549315C>T	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.583C>T	1.37:g.162549315C>T	ENSP00000356902:p.Gln195*						p.Q195*	NM_003115	NP_003106	Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		4	912	+	all_hematologic(112;0.115)		195					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Nonsense_Mutation	SNP	ENST00000367925.1	37	c.583C>T		.	.	.	.	.	.	.	.	.	.	C	28.7	4.944191	0.92593	.	.	ENSG00000117143	ENST00000412525;ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	.	.	.	5.38	5.38	0.77491	.	0.053166	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-7.8699	17.7307	0.88376	0.0:1.0:0.0:0.0	.	.	.	.	X	195	.	ENSP00000271469:Q195X	Q	+	1	0	UAP1	160815939	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.577000	0.67444	2.515000	0.84797	0.655000	0.94253	CAG		0.358	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1		NM_003115		9	68	0	0	0	0.006214	0	9	68		
RXRG	6258	broad.mit.edu	37	1	165380319	165380319	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:165380319C>T	ENST00000359842.5	-	5	952	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	217	Hinge.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	AGCTCGCTCTCGGCTCCTCTG	0.493																																						uc001gda.2		NaN																	0					0						c.(649-651)CGA>CAA		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						142.0	111.0	122.0					1																	165380319		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165380319C>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.650G>A	1.37:g.165380319C>T	ENSP00000352900:p.Arg217Gln						p.R217Q	NM_006917	NP_008848	P48443	RXRG_HUMAN			5	950	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		217			Hinge.		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.650G>A	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364740	0.61513	.	.	ENSG00000143171	ENST00000359842	T	0.71579	-0.58	4.53	4.53	0.55603	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.056224	0.64402	D	0.000002	T	0.57858	0.2082	M	0.80982	2.52	0.51012	D	0.999904	P	0.48640	0.913	B	0.31390	0.129	T	0.73519	-0.3957	9	0.66056	D	0.02	.	16.0032	0.80310	0.0:1.0:0.0:0.0	.	217	P48443	RXRG_HUMAN	Q	217	ENSP00000352900:R217Q	ENSP00000352900:R217Q	R	-	2	0	RXRG	163646943	0.930000	0.31532	1.000000	0.80357	0.976000	0.68499	1.374000	0.34283	2.328000	0.79073	0.563000	0.77884	CGA		0.493	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2		NM_006917		19	57	0	0	0	0.012319	0	19	57		
FMO3	2328	broad.mit.edu	37	1	171080103	171080103	+	Silent	SNP	C	C	T	rs199793067		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:171080103C>T	ENST00000367755.4	+	6	903	c.792C>T	c.(790-792)ttC>ttT	p.F264F	FMO3_ENST00000392085.2_Silent_p.F264F|FMO3_ENST00000538429.1_Silent_p.F201F|FMO3_ENST00000542847.1_Silent_p.F244F	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	264					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	ATGCAAGATTCAAGCATGAAA	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20516	0.0		0.0	False		,,,				2504	0.0					uc001ghi.2		NaN																	0				skin(1)	1						c.(790-792)TTC>TTT		flavin containing monooxygenase 3							147.0	131.0	136.0					1																	171080103		2203	4300	6503	SO:0001819	synonymous_variant	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171080103C>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.792C>T	1.37:g.171080103C>T						FMO3_uc001ghh.2_Silent_p.F264F|FMO3_uc010pmb.1_Silent_p.F244F|FMO3_uc010pmc.1_Silent_p.F201F	p.F264F	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			6	903	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		264					B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	c.792C>T	CCDS1292.1																																																																																				0.443	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1		NM_006894		6	100	0	0	0	0.004482	0	6	100		
CEP350	9857	broad.mit.edu	37	1	179989421	179989421	+	Silent	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:179989421A>C	ENST00000367607.3	+	12	2930	c.2512A>C	c.(2512-2514)Aga>Cga	p.R838R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	838					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTTGTCCAGCAGAATTGAAAG	0.443																																						uc001gnt.2		NaN																	0				ovary(4)	4						c.(2512-2514)AGA>CGA		centrosome-associated protein 350							134.0	139.0	137.0					1																	179989421		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:179989421A>C	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2512A>C	1.37:g.179989421A>C						CEP350_uc009wxl.2_Silent_p.R837R|CEP350_uc001gnu.2_Silent_p.R672R	p.R838R	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			12	2895	+			838					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.2512A>C	CCDS1336.1																																																																																				0.443	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810		20	126	0	0	0	0.014323	0	20	126		
HMCN1	83872	broad.mit.edu	37	1	185969231	185969231	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:185969231G>A	ENST00000271588.4	+	26	4158	c.3929G>A	c.(3928-3930)aGa>aAa	p.R1310K	HMCN1_ENST00000367492.2_Missense_Mutation_p.R1310K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1310	Ig-like C2-type 10.				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						TTGACAGGCAGAGAGCCTGGC	0.398																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(3928-3930)AGA>AAA		hemicentin 1 precursor							122.0	113.0	116.0					1																	185969231		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185969231G>A	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.3929G>A	1.37:g.185969231G>A	ENSP00000271588:p.Arg1310Lys						p.R1310K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			26	4158	+			1310			Ig-like C2-type 10.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3929G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.772033	0.31320	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.76839	-1.05;-1.05	5.46	2.56	0.30785	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.519966	0.23155	N	0.051316	T	0.58708	0.2141	N	0.21373	0.66	0.09310	N	1	B	0.24618	0.107	B	0.30316	0.114	T	0.41770	-0.9490	10	0.09590	T	0.72	.	5.4163	0.16376	0.2877:0.2412:0.471:0.0	.	1310	Q96RW7	HMCN1_HUMAN	K	1310	ENSP00000271588:R1310K;ENSP00000356462:R1310K	ENSP00000271588:R1310K	R	+	2	0	HMCN1	184235854	0.385000	0.25172	0.987000	0.45799	0.990000	0.78478	0.153000	0.16323	0.272000	0.22027	0.558000	0.71614	AGA		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		12	81	0	0	0	0.004007	0	12	81		
CFH	3075	broad.mit.edu	37	1	196697623	196697623	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:196697623G>C	ENST00000367429.4	+	15	2624	c.2384G>C	c.(2383-2385)gGa>gCa	p.G795A		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	795	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGCATAAATGGAAGATGGGAT	0.338																																						uc001gtj.3		NaN																	0				skin(4)|ovary(1)|breast(1)	6						c.(2383-2385)GGA>GCA		complement factor H isoform a precursor							118.0	107.0	111.0					1																	196697623		2203	4299	6502	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196697623G>C	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2384G>C	1.37:g.196697623G>C	ENSP00000356399:p.Gly795Ala						p.G795A	NM_000186	NP_000177	P08603	CFAH_HUMAN			15	2624	+			795			Sushi 13.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2384G>C	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855236	0.51376	.	.	ENSG00000000971	ENST00000367429	T	0.43294	0.95	5.24	5.24	0.73138	Sushi/SCR/CCP (2);	.	.	.	.	T	0.64853	0.2636	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.65549	-0.6141	9	0.46703	T	0.11	.	14.6774	0.68989	0.0:0.0:1.0:0.0	.	795	P08603	CFAH_HUMAN	A	795	ENSP00000356399:G795A	ENSP00000356399:G795A	G	+	2	0	CFH	194964246	1.000000	0.71417	0.960000	0.40013	0.247000	0.25773	4.502000	0.60400	2.613000	0.88420	0.585000	0.79938	GGA		0.338	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2		NM_000186		6	85	0	0	0	0.004482	0	6	85		
TNNI1	7135	broad.mit.edu	37	1	201383732	201383732	+	Missense_Mutation	SNP	C	C	T	rs199605300		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:201383732C>T	ENST00000361379.4	-	5	195	c.103G>A	c.(103-105)Gag>Aag	p.E35K	TNNI1_ENST00000336092.4_Missense_Mutation_p.E35K|TNNI1_ENST00000555948.1_Missense_Mutation_p.E35K|TNNI1_ENST00000367312.1_Missense_Mutation_p.E35K	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	35	Involved in binding TNC.				muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						TCGCGCTCCTCGTGCTCCTGC	0.662																																						uc010ppq.1		NaN																	0					0						c.(103-105)GAG>AAG		troponin I, skeletal, slow		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	56.0	52.0	54.0		103	3.0	0.9	1		54	0,8600		0,0,4300	no	missense	TNNI1	NM_003281.3	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	35/188	201383732	1,13005	2203	4300	6503	SO:0001583	missense	7135				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	g.chr1:201383732C>T	BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"""troponin I, skeletal, slow"""			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.103G>A	1.37:g.201383732C>T	ENSP00000354488:p.Glu35Lys					TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Missense_Mutation_p.E14K	p.E35K	NM_003281	NP_003272	P19237	TNNI1_HUMAN			5	196	-			35			Involved in binding TNC.		A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Missense_Mutation	SNP	ENST00000361379.4	37	c.103G>A	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	C	9.182	1.023898	0.19433	2.27E-4	0.0	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000555948;ENST00000367312;ENST00000555340;ENST00000556362	D;D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59;-3.59	5.05	2.99	0.34606	.	0.464676	0.21746	N	0.069751	D	0.86644	0.5982	N	0.25825	0.765	0.27488	N	0.952361	B	0.25955	0.138	B	0.16722	0.016	T	0.75105	-0.3435	10	0.22706	T	0.39	-22.0459	5.6942	0.17847	0.1449:0.6382:0.1401:0.0769	.	35	P19237	TNNI1_HUMAN	K	35;35;35;35;35;35;14;35	ENSP00000354488:E35K;ENSP00000337022:E35K;ENSP00000451307:E35K;ENSP00000356281:E35K;ENSP00000451660:E14K;ENSP00000451776:E35K	ENSP00000337022:E35K	E	-	1	0	TNNI1	199650355	0.492000	0.26027	0.950000	0.38849	0.591000	0.36615	1.478000	0.35442	1.065000	0.40693	0.655000	0.94253	GAG		0.662	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1		NM_003281		6	46	0	0	0	0.001984	0	6	46		
DSTYK	25778	broad.mit.edu	37	1	205138805	205138805	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:205138805C>G	ENST00000367162.3	-	3	840	c.810G>C	c.(808-810)aaG>aaC	p.K270N	DSTYK_ENST00000367161.3_Missense_Mutation_p.K270N|DSTYK_ENST00000367160.4_Missense_Mutation_p.K270N	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	270					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						AGGAGAAATACTTTCGGATTT	0.448																																						uc001hbw.2		NaN																	0				lung(1)	1						c.(808-810)AAG>AAC		receptor interacting protein kinase 5 isoform 1							76.0	76.0	76.0					1																	205138805		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205138805C>G	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.810G>C	1.37:g.205138805C>G	ENSP00000356130:p.Lys270Asn					DSTYK_uc001hbx.2_Missense_Mutation_p.K270N|DSTYK_uc001hby.1_Intron	p.K270N	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			3	874	-			270					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.810G>C	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057549	0.36277	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.78364	-0.69;-1.09;-1.17	5.36	3.25	0.37280	.	0.166954	0.51477	D	0.000088	T	0.54431	0.1858	N	0.03608	-0.345	0.33465	D	0.585508	B;B	0.14438	0.01;0.002	B;B	0.14578	0.011;0.005	T	0.59632	-0.7418	10	0.39692	T	0.17	-8.3485	10.8723	0.46891	0.0:0.7916:0.0:0.2084	.	270;270	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	N	270	ENSP00000356128:K270N;ENSP00000356129:K270N;ENSP00000356130:K270N	ENSP00000356128:K270N	K	-	3	2	DSTYK	203405428	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.880000	0.28159	1.255000	0.44051	0.561000	0.74099	AAG		0.448	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1		NM_015375		3	55	0	0	0	0.009096	0	3	55		
RPS6KC1	26750	broad.mit.edu	37	1	213405500	213405500	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:213405500G>C	ENST00000366960.3	+	10	1277	c.1127G>C	c.(1126-1128)aGa>aCa	p.R376T	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R364T|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.R79T|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.R164T|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	376	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGCAGGAACAGAAAGACCATC	0.488																																						uc010ptr.1		NaN																	0				lung(4)|ovary(3)|breast(1)	8						c.(1126-1128)AGA>ACA		ribosomal protein S6 kinase, 52kDa, polypeptide							217.0	176.0	190.0					1																	213405500		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213405500G>C	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1127G>C	1.37:g.213405500G>C	ENSP00000355927:p.Arg376Thr					RPS6KC1_uc001hkd.2_Missense_Mutation_p.R364T|RPS6KC1_uc010pts.1_Missense_Mutation_p.R164T|RPS6KC1_uc010ptt.1_Missense_Mutation_p.R164T|RPS6KC1_uc010ptu.1_Missense_Mutation_p.R195T|RPS6KC1_uc010ptv.1_Intron|RPS6KC1_uc001hke.2_Missense_Mutation_p.R195T	p.R376T	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	10	1286	+			376			Protein kinase 1.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.1127G>C	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115617	0.56505	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.52	5.52	0.82312	.	0.108387	0.64402	D	0.000006	T	0.51652	0.1687	M	0.63169	1.94	0.53688	D	0.999971	D;D;D	0.89917	1.0;0.997;0.997	D;P;P	0.87578	0.998;0.904;0.904	T	0.49781	-0.8903	10	0.72032	D	0.01	-20.0564	19.7842	0.96430	0.0:0.0:1.0:0.0	.	164;376;364	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	T	164;376;364;79	ENSP00000442306:R164T;ENSP00000355927:R376T;ENSP00000355926:R364T;ENSP00000439282:R79T	ENSP00000355926:R364T	R	+	2	0	RPS6KC1	211472123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.906000	0.69900	2.753000	0.94483	0.460000	0.39030	AGA		0.488	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3		NM_012424		10	88	0	0	0	0.008291	0	10	88		
KCTD3	51133	broad.mit.edu	37	1	215768802	215768802	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:215768802C>G	ENST00000259154.4	+	10	1216	c.922C>G	c.(922-924)Cag>Gag	p.Q308E		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	308					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TGCTGTCACTCAGCACTGGCA	0.403																																						uc001hks.2		NaN																	0				ovary(3)	3						c.(922-924)CAG>GAG		potassium channel tetramerisation domain							161.0	156.0	158.0					1																	215768802		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215768802C>G	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.922C>G	1.37:g.215768802C>G	ENSP00000259154:p.Gln308Glu					KCTD3_uc001hkt.2_Missense_Mutation_p.Q308E|KCTD3_uc010pub.1_Missense_Mutation_p.Q206E|KCTD3_uc009xdn.2_Missense_Mutation_p.Q60E	p.Q308E	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	10	1216	+			308			WD 2.		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.922C>G	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273257	0.80580	.	.	ENSG00000136636	ENST00000259154	T	0.06142	3.34	5.83	5.83	0.93111	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.101006	0.64402	D	0.000001	T	0.21841	0.0526	M	0.71036	2.16	0.80722	D	1	D;D;D;P	0.57899	0.971;0.981;0.979;0.945	P;P;P;P	0.56434	0.697;0.798;0.798;0.459	T	0.00025	-1.2316	10	0.87932	D	0	-21.1277	19.122	0.93367	0.0:1.0:0.0:0.0	.	60;60;308;308	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	E	308	ENSP00000259154:Q308E	ENSP00000259154:Q308E	Q	+	1	0	KCTD3	213835425	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.567000	0.60850	2.770000	0.95276	0.655000	0.94253	CAG		0.403	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2		NM_016121		6	64	0	0	0	0.001168	0	6	64		
USH2A	7399	broad.mit.edu	37	1	216500943	216500943	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:216500943G>T	ENST00000307340.3	-	5	1224	c.838C>A	c.(838-840)Ctt>Att	p.L280I	USH2A_ENST00000366943.2_Missense_Mutation_p.L280I|USH2A_ENST00000366942.3_Missense_Mutation_p.L280I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	280	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.		L -> F (in USH2A). {ECO:0000269|PubMed:17405132}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGTTTGTAAGTGCCACTTGG	0.343										HNSCC(13;0.011)																												uc001hku.1		NaN																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	GRCh37	CM073401	USH2A	M		c.(838-840)CTT>ATT		usherin isoform B							154.0	147.0	149.0					1																	216500943		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216500943G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.838C>A	1.37:g.216500943G>T	ENSP00000305941:p.Leu280Ile	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.L280I	p.L280I	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	5	1225	-			280		L -> F (in USH2A).	Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.838C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137192	0.77775	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;D	0.84298	-1.83;-1.83;-1.83	5.95	5.95	0.96441	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin, N-terminal (2);	0.000000	0.39274	N	0.001419	D	0.91905	0.7437	M	0.65975	2.015	0.52501	D	0.999958	D;D	0.71674	0.998;0.996	P;D	0.73380	0.895;0.98	D	0.90772	0.4673	10	0.49607	T	0.09	.	20.3789	0.98926	0.0:0.0:1.0:0.0	.	280;280	O75445-2;O75445	.;USH2A_HUMAN	I	280	ENSP00000305941:L280I;ENSP00000355910:L280I;ENSP00000355909:L280I	ENSP00000305941:L280I	L	-	1	0	USH2A	214567566	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.893000	0.63199	2.826000	0.97356	0.563000	0.77884	CTT		0.343	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123		11	109	1	0	0.00010058	0.013537	0.000104953	11	109		
C1orf131	128061	broad.mit.edu	37	1	231364906	231364906	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:231364906T>A	ENST00000366649.2	-	3	525	c.500A>T	c.(499-501)aAc>aTc	p.N167I	C1orf131_ENST00000318906.2_Missense_Mutation_p.N167I|C1orf131_ENST00000366651.3_Missense_Mutation_p.N166I			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	167							poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTTTTCTAGGTTAAATTCTTG	0.229																																						uc001hun.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(499-501)AAC>ATC		hypothetical protein LOC128061							38.0	39.0	38.0					1																	231364906		2197	4295	6492	SO:0001583	missense	128061							g.chr1:231364906T>A	BC062353	CCDS1591.2, CCDS73049.1	1q42.2	2012-06-27			ENSG00000143633	ENSG00000143633			25332	protein-coding gene	gene with protein product						12975309	Standard	XM_005273051		Approved	DKFZp547B1713	uc001hul.3	Q8NDD1	OTTHUMG00000038023	ENST00000366649.2:c.500A>T	1.37:g.231364906T>A	ENSP00000355609:p.Asn167Ile					C1orf131_uc001hul.2_Missense_Mutation_p.N167I|C1orf131_uc001hum.2_Missense_Mutation_p.N166I|C1orf131_uc010pwd.1_Missense_Mutation_p.N166I	p.N167I	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN			3	537	-	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	167					Q5TBI0|Q5TBI1|Q6P6B4|Q7Z6H5|Q8N432|Q96NM6	Missense_Mutation	SNP	ENST00000366649.2	37	c.500A>T	CCDS1591.2	.	.	.	.	.	.	.	.	.	.	T	16.06	3.014493	0.54468	.	.	ENSG00000143633	ENST00000366649;ENST00000318906;ENST00000366651	T;T;T	0.53640	0.61;0.61;2.58	4.26	4.26	0.50523	.	0.102938	0.64402	D	0.000007	T	0.67154	0.2863	M	0.78637	2.42	0.41187	D	0.986273	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.72083	-0.4397	10	0.87932	D	0	-8.5386	11.7426	0.51801	0.0:0.0:0.0:1.0	.	166;167;166;167	B4E0F7;Q8NDD1;Q8NDD1-3;Q8NDD1-2	.;CA131_HUMAN;.;.	I	167;167;166	ENSP00000355609:N167I;ENSP00000321341:N167I;ENSP00000355611:N166I	ENSP00000321341:N167I	N	-	2	0	C1orf131	229431529	1.000000	0.71417	0.999000	0.59377	0.630000	0.37929	4.128000	0.57951	2.163000	0.67991	0.528000	0.53228	AAC		0.229	C1orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092864.1		NM_152379		3	38	0	0	0	0.009096	0	3	38		
LYST	1130	broad.mit.edu	37	1	235969823	235969823	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:235969823G>A	ENST00000389794.3	-	6	2787	c.2613C>T	c.(2611-2613)ctC>ctT	p.L871L	LYST_ENST00000389793.2_Silent_p.L871L|LYST_ENST00000536965.1_Silent_p.L871L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	871					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAATTTGCTGAGACTCTGAG	0.398																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(2611-2613)CTC>CTT		lysosomal trafficking regulator							124.0	128.0	126.0					1																	235969823		2203	4300	6503	SO:0001819	synonymous_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235969823G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2613C>T	1.37:g.235969823G>A						LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.L871L	p.L871L	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		6	2788	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	871					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.2613C>T	CCDS31062.1																																																																																				0.398	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				14	106	0	0	0	0.003163	0	14	106		
RYR2	6262	broad.mit.edu	37	1	237819281	237819281	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:237819281C>G	ENST00000366574.2	+	53	8443	c.8126C>G	c.(8125-8127)tCa>tGa	p.S2709*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.S2693*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.S2707*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2709	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTGATACCTCAAAGTATGGA	0.358																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8125-8127)TCA>TGA		cardiac muscle ryanodine receptor							71.0	69.0	70.0					1																	237819281		1845	4103	5948	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237819281C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8126C>G	1.37:g.237819281C>G	ENSP00000355533:p.Ser2709*						p.S2709*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		53	8246	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2709			Modulator (Potential).|Cytoplasmic (By similarity).|3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.8126C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	50	16.276266	0.99859	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.95	5.95	0.96441	.	0.117908	0.36338	N	0.002653	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-9.7985	13.5625	0.61797	0.0:0.9292:0.0:0.0708	.	.	.	.	X	2709;2707;2693	.	ENSP00000353174:S2707X	S	+	2	0	RYR2	235885904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.247000	0.51422	2.826000	0.97356	0.563000	0.77884	TCA		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		5	22	0	0	0	0.00308	0	5	22		
OPN3	23596	broad.mit.edu	37	1	241803278	241803278	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:241803278G>A	ENST00000366554.2	-	1	385	c.279C>T	c.(277-279)ttC>ttT	p.F93F	OPN3_ENST00000331838.5_Silent_p.F93F|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	93					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AGGTGACCCCGAAGAGGGACA	0.622																																						uc001hza.2		NaN																	0					0						c.(277-279)TTC>TTT		opsin 3							48.0	47.0	47.0					1																	241803278		2202	4300	6502	SO:0001819	synonymous_variant	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241803278G>A	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.279C>T	1.37:g.241803278G>A						OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_RNA	p.F93F	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	424	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	93			Helical; Name=2; (Potential).		Q8IX08|Q9Y344	Silent	SNP	ENST00000366554.2	37	c.279C>T	CCDS31072.1																																																																																				0.622	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1		NM_014322		4	18	0	0	0	0.000602	0	4	18		
OR2M4	26245	broad.mit.edu	37	1	248402892	248402892	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:248402892T>A	ENST00000306687.1	+	1	662	c.662T>A	c.(661-663)gTc>gAc	p.V221D		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	221					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TATTCCCATGTCCTTCGAGCC	0.483																																						uc010pzh.1		NaN																	0				breast(2)	2						c.(661-663)GTC>GAC		olfactory receptor, family 2, subfamily M,							97.0	92.0	94.0					1																	248402892		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402892T>A	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.662T>A	1.37:g.248402892T>A	ENSP00000306688:p.Val221Asp						p.V221D	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	662	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		221			Cytoplasmic (Potential).		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.662T>A	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	t	10.70	1.423819	0.25639	.	.	ENSG00000171180	ENST00000306687	T	0.00211	8.54	3.34	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.193142	0.24993	N	0.033969	T	0.00552	0.0018	M	0.87328	2.875	0.20764	N	0.999858	D	0.89917	1.0	D	0.87578	0.998	T	0.35450	-0.9788	10	0.87932	D	0	.	7.8253	0.29311	0.0:0.1088:0.0:0.8912	.	221	Q96R27	OR2M4_HUMAN	D	221	ENSP00000306688:V221D	ENSP00000306688:V221D	V	+	2	0	OR2M4	246469515	0.007000	0.16637	0.003000	0.11579	0.030000	0.12068	1.395000	0.34520	0.447000	0.26695	0.443000	0.29094	GTC		0.483	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1		NM_017504		7	48	0	0	0	0.001984	0	7	48		
OR2T2	401992	broad.mit.edu	37	1	248616329	248616329	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:248616329C>T	ENST00000342927.3	+	1	253	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	77						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(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACATCTGTATCACTGTCCCCA	0.522																																						uc001iek.1		NaN																	0				skin(1)	1						c.(229-231)ATC>ATT		olfactory receptor, family 2, subfamily T,							130.0	147.0	141.0					1																	248616329		2203	4297	6500	SO:0001819	synonymous_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616329C>T	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.231C>T	1.37:g.248616329C>T							p.I77I	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	231	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		77			Helical; Name=2; (Potential).		B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	c.231C>T	CCDS31116.1																																																																																				0.522	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1		NM_001004136		6	164	0	0	0	0.006214	0	6	164		
KLF6	1316	broad.mit.edu	37	10	3823941	3823941	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:3823941C>T	ENST00000497571.1	-	2	828	c.568G>A	c.(568-570)Gat>Aat	p.D190N	KLF6_ENST00000542957.1_Missense_Mutation_p.D190N|KLF6_ENST00000173785.4_Intron|KLF6_ENST00000469435.1_Missense_Mutation_p.D190N	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	190					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GGGGAGGCATCGCCATTTCCC	0.627											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001iha.2		NaN																	0				central_nervous_system(3)|lung(1)	4						c.(568-570)GAT>AAT		Kruppel-like factor 6 isoform A							76.0	66.0	69.0					10																	3823941		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3823941C>T	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.568G>A	10.37:g.3823941C>T	ENSP00000419923:p.Asp190Asn		OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_uc010qaj.1_Missense_Mutation_p.D190N|KLF6_uc010qak.1_Intron|KLF6_uc010qal.1_Intron|KLF6_uc001ihb.2_Missense_Mutation_p.D190N	p.D190N	NM_001300	NP_001291	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	2	835	-			190					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.568G>A	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649877	0.67358	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.52754	3.18;0.65;0.88	4.91	4.91	0.64330	.	0.098606	0.64402	D	0.000002	T	0.51601	0.1684	N	0.12182	0.205	0.80722	D	1	P;D;B	0.89917	0.688;1.0;0.042	B;D;B	0.71870	0.098;0.975;0.012	T	0.61441	-0.7062	10	0.66056	D	0.02	.	17.0992	0.86644	0.0:1.0:0.0:0.0	.	190;190;190	F5H3M5;Q99612-2;Q99612	.;.;KLF6_HUMAN	N	190	ENSP00000419923:D190N;ENSP00000445301:D190N;ENSP00000419079:D190N	ENSP00000419079:D190N	D	-	1	0	KLF6	3813941	1.000000	0.71417	0.930000	0.37139	0.022000	0.10575	7.670000	0.83925	2.264000	0.75181	0.561000	0.74099	GAT		0.627	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1				12	57	0	0	0	0.001855	0	12	57		
KLF6	1316	broad.mit.edu	37	10	3824047	3824047	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:3824047C>G	ENST00000497571.1	-	2	722	c.462G>C	c.(460-462)ctG>ctC	p.L154L	KLF6_ENST00000542957.1_Silent_p.L154L|KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000469435.1_Silent_p.L154L	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	154					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GTTCCCTGCTCAGTTCCGGAG	0.612											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001iha.2		NaN																	0				central_nervous_system(3)|lung(1)	4						c.(460-462)CTG>CTC		Kruppel-like factor 6 isoform A							69.0	68.0	68.0					10																	3824047		2203	4300	6503	SO:0001819	synonymous_variant	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3824047C>G	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.462G>C	10.37:g.3824047C>G			OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_uc010qaj.1_Silent_p.L154L|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Silent_p.L154L|KLF6_uc001ihb.2_Silent_p.L154L	p.L154L	NM_001300	NP_001291	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	2	729	-			154					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Silent	SNP	ENST00000497571.1	37	c.462G>C	CCDS7060.1																																																																																				0.612	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1				13	73	0	0	0	0.00245	0	13	73		
FAM208B	54906	broad.mit.edu	37	10	5791660	5791660	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:5791660C>G	ENST00000328090.5	+	15	6901	c.6276C>G	c.(6274-6276)ctC>ctG	p.L2092L		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2092																	CATTCCACCTCAACAAACTGA	0.383																																						uc001iij.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(6274-6276)CTC>CTG		hypothetical protein LOC54906							52.0	51.0	51.0					10																	5791660		1882	4109	5991	SO:0001819	synonymous_variant	54906							g.chr10:5791660C>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6276C>G	10.37:g.5791660C>G						C10orf18_uc001iik.2_Silent_p.L936L	p.L2092L	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			15	6901	+			2092					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.6276C>G	CCDS41485.1																																																																																				0.383	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2		NM_017782		4	37	0	0	0	0.000602	0	4	37		
FAM171A1	221061	broad.mit.edu	37	10	15296770	15296770	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:15296770G>A	ENST00000378116.4	-	4	533	c.527C>T	c.(526-528)tCg>tTg	p.S176L		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	176						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GTCCACCTCCGAAGGGGAGCT	0.507																																						uc001iob.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(526-528)TCG>TTG		hypothetical protein LOC221061 precursor							64.0	60.0	62.0					10																	15296770		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15296770G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.527C>T	10.37:g.15296770G>A	ENSP00000367356:p.Ser176Leu						p.S176L	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			4	534	-			176			Extracellular (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.527C>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	1.739	-0.492082	0.04322	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.29397	1.57	5.11	2.21	0.28008	.	0.656135	0.15796	N	0.244194	T	0.12475	0.0303	N	0.12182	0.205	0.09310	N	1	B	0.20459	0.045	B	0.19391	0.025	T	0.26849	-1.0091	10	0.11794	T	0.64	-3.6314	2.4672	0.04555	0.1707:0.28:0.425:0.1243	.	176	Q5VUB5	F1711_HUMAN	L	176;177	ENSP00000367356:S176L	ENSP00000367356:S176L	S	-	2	0	FAM171A1	15336776	0.015000	0.18098	0.001000	0.08648	0.382000	0.30200	1.714000	0.37961	0.665000	0.31066	-0.873000	0.02984	TCG		0.507	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1		XM_167709		5	32	0	0	0	0.001168	0	5	32		
CUBN	8029	broad.mit.edu	37	10	17107611	17107611	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:17107611G>A	ENST00000377833.4	-	22	3100	c.3035C>T	c.(3034-3036)tCt>tTt	p.S1012F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1012	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTTGTGAGAGATGGCGGGAT	0.403																																						uc001ioo.2		NaN																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(3034-3036)TCT>TTT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						219.0	197.0	204.0					10																	17107611		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17107611G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3035C>T	10.37:g.17107611G>A	ENSP00000367064:p.Ser1012Phe						p.S1012F	NM_001081	NP_001072	O60494	CUBN_HUMAN			22	3087	-			1012			CUB 5.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3035C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656698	0.47467	.	.	ENSG00000107611	ENST00000377833	T	0.18810	2.19	5.92	4.08	0.47627	CUB (5);	0.495315	0.17142	N	0.185397	T	0.41488	0.1161	L	0.57130	1.785	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.14755	-1.0461	10	0.62326	D	0.03	.	12.6227	0.56612	0.1337:0.0:0.8663:0.0	.	1012	O60494	CUBN_HUMAN	F	1012	ENSP00000367064:S1012F	ENSP00000367064:S1012F	S	-	2	0	CUBN	17147617	1.000000	0.71417	0.926000	0.36857	0.082000	0.17680	4.522000	0.60539	0.853000	0.35312	0.650000	0.86243	TCT		0.403	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		19	161	0	0	0	0.004656	0	19	161		
SVIL	6840	broad.mit.edu	37	10	29747179	29747179	+	Silent	SNP	G	G	A	rs368422168		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:29747179G>A	ENST00000355867.4	-	38	7394	c.6642C>T	c.(6640-6642)ttC>ttT	p.F2214F	SVIL_ENST00000535393.1_Silent_p.F1128F|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|SVIL_ENST00000375398.2_Silent_p.F2214F|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Silent_p.F1788F	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2214	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCCCCACTCAGAACAGGCCTT	0.502																																						uc001iut.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(6640-6642)TTC>TTT		supervillin isoform 2							126.0	110.0	115.0					10																	29747179		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29747179G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6642C>T	10.37:g.29747179G>A						LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.F1128F|SVIL_uc001iuu.1_Silent_p.F1788F	p.F2214F	NM_021738	NP_068506	O95425	SVIL_HUMAN			38	7395	-		Breast(68;0.103)	2214			HP.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.6642C>T	CCDS7164.1																																																																																				0.502	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1				3	62	0	0	0	0.000602	0	3	62		
KIAA1462	57608	broad.mit.edu	37	10	30336610	30336610	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:30336610C>T	ENST00000375377.1	-	2	233	c.132G>A	c.(130-132)caG>caA	p.Q44Q		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	44					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CATGCCCGTTCTGCAGGCCCT	0.642																																						uc001iux.2		NaN																	0				ovary(4)	4						c.(130-132)CAG>CAA		hypothetical protein LOC57608							55.0	62.0	59.0					10																	30336610		2047	4184	6231	SO:0001819	synonymous_variant	57608							g.chr10:30336610C>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.132G>A	10.37:g.30336610C>T						KIAA1462_uc001iuy.2_Silent_p.Q44Q|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Silent_p.Q44Q	p.Q44Q	NM_020848	NP_065899	Q9P266	K1462_HUMAN			1	191	-			44					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	c.132G>A	CCDS41500.1																																																																																				0.642	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1		NM_020848		6	41	0	0	0	0.00308	0	6	41		
PARD3	56288	broad.mit.edu	37	10	34671692	34671692	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:34671692C>T	ENST00000374789.3	-	9	1500	c.1175G>A	c.(1174-1176)aGg>aAg	p.R392K	PARD3_ENST00000544292.1_Missense_Mutation_p.R122K|PARD3_ENST00000374790.3_Missense_Mutation_p.R348K|PARD3_ENST00000374776.1_Missense_Mutation_p.R392K|PARD3_ENST00000340077.5_Missense_Mutation_p.R392K|PARD3_ENST00000374794.3_Missense_Mutation_p.R348K|PARD3_ENST00000374788.3_Missense_Mutation_p.R392K|PARD3_ENST00000374773.1_Missense_Mutation_p.R392K|PARD3_ENST00000350537.4_Missense_Mutation_p.R392K|PARD3_ENST00000346874.4_Missense_Mutation_p.R392K|PARD3_ENST00000545693.1_Missense_Mutation_p.R392K|PARD3_ENST00000545260.1_Missense_Mutation_p.R348K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	392					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTTCACACTCCTGTTGTCAAT	0.488																																						uc010qej.1		NaN																	0				ovary(1)	1						c.(1174-1176)AGG>AAG		partitioning-defective protein 3 homolog							169.0	154.0	159.0					10																	34671692		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34671692C>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1175G>A	10.37:g.34671692C>T	ENSP00000363921:p.Arg392Lys					PARD3_uc010qek.1_Missense_Mutation_p.R392K|PARD3_uc010qel.1_Missense_Mutation_p.R392K|PARD3_uc010qem.1_Missense_Mutation_p.R392K|PARD3_uc010qen.1_Missense_Mutation_p.R392K|PARD3_uc010qeo.1_Missense_Mutation_p.R392K|PARD3_uc010qep.1_Missense_Mutation_p.R348K|PARD3_uc010qeq.1_Missense_Mutation_p.R348K|PARD3_uc001ixo.1_Missense_Mutation_p.R122K|PARD3_uc001ixp.1_Missense_Mutation_p.R257K|PARD3_uc001ixq.1_Missense_Mutation_p.R392K|PARD3_uc001ixr.1_Missense_Mutation_p.R392K|PARD3_uc001ixt.1_Missense_Mutation_p.R213K|PARD3_uc001ixu.1_Missense_Mutation_p.R348K|PARD3_uc001ixs.1_Missense_Mutation_p.R45K	p.R392K	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			9	1175	-		Breast(68;0.0707)	392					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1175G>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	7.177	0.588754	0.13812	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.16597	2.69;2.73;2.76;2.76;2.76;2.71;2.72;2.71;2.4;2.33;2.45;2.4	5.68	3.61	0.41365	.	0.460534	0.25807	N	0.028164	T	0.07908	0.0198	N	0.20685	0.6	0.20703	N	0.999861	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.001;0.0;0.001;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10450	0.002;0.001;0.002;0.002;0.003;0.002;0.001;0.001;0.001;0.001;0.003;0.005;0.001;0.005;0.002	T	0.39941	-0.9589	10	0.02654	T	1	.	6.3847	0.21554	0.0:0.677:0.0:0.323	.	348;348;392;392;392;392;392;392;348;392;392;392;392;392;122	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	K	392;348;392;392;392;348;392;348;392;392;392;122	ENSP00000443147:R392K;ENSP00000440857:R348K;ENSP00000363921:R392K;ENSP00000363920:R392K;ENSP00000340591:R392K;ENSP00000363926:R348K;ENSP00000311986:R392K;ENSP00000363922:R348K;ENSP00000363908:R392K;ENSP00000341844:R392K;ENSP00000363905:R392K;ENSP00000444429:R122K	ENSP00000341844:R392K	R	-	2	0	PARD3	34711698	0.889000	0.30405	0.053000	0.19242	0.412000	0.31113	1.173000	0.31920	1.406000	0.46857	-0.142000	0.14014	AGG		0.488	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1		NM_019619		10	75	0	0	0	0.010729	0	10	75		
NCOA4	8031	broad.mit.edu	37	10	51584877	51584877	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:51584877G>C	ENST00000443446.1	+	8	1205	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	NCOA4_ENST00000452682.1_Missense_Mutation_p.E342Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.E160Q|NCOA4_ENST00000344348.6_Missense_Mutation_p.E326Q|NCOA4_ENST00000374087.4_Missense_Mutation_p.E326Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.E342Q|NCOA4_ENST00000374082.1_Missense_Mutation_p.E326Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.E226Q	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	326					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGAAACCAGTGAGAAGTTTAA	0.478			T	RET	papillary thyroid																																	uc001jis.3		NaN		Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid 		0				central_nervous_system(1)|kidney(1)	2						c.(976-978)GAG>CAG		nuclear receptor coactivator 4 isoform 3							86.0	86.0	86.0					10																	51584877		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51584877G>C	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.976G>C	10.37:g.51584877G>C	ENSP00000390713:p.Glu326Gln					PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.E342Q|NCOA4_uc010qhd.1_Missense_Mutation_p.E342Q|NCOA4_uc010qhe.1_Missense_Mutation_p.E226Q|NCOA4_uc010qhf.1_Missense_Mutation_p.E160Q|NCOA4_uc001jit.2_Missense_Mutation_p.E326Q|NCOA4_uc009xoo.2_Missense_Mutation_p.E326Q	p.E326Q	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN			8	1179	+			326					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.976G>C	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.37|19.37	3.814057|3.814057	0.70912|0.70912	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446|ENST00000431200	T;T;T;T;T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.192786|.	0.56097|.	D|.	0.000040|.	T|.	0.78168|.	0.4241|.	M|M	0.74258|0.74258	2.255|2.255	0.43364|0.43364	D|D	0.995441|0.995441	D;D;D;D|.	0.62365|.	0.991;0.97;0.984;0.971|.	P;P;P;P|.	0.62089|.	0.898;0.743;0.8;0.812|.	T|.	0.75317|.	-0.3360|.	9|.	.|.	.|.	.|.	-18.5109|-18.5109	20.5568|20.5568	0.99304|0.99304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	226;342;342;326|.	B4DF87;B4E260;E9PAV7;Q13772|.	.;.;.;NCOA4_HUMAN|.	Q|S	342;342;226;326;160;326;326;326|241	ENSP00000405146:E342Q;ENSP00000395465:E342Q;ENSP00000393053:E226Q;ENSP00000363200:E326Q;ENSP00000411018:E160Q;ENSP00000344552:E326Q;ENSP00000363195:E326Q;ENSP00000390713:E326Q|.	.|.	E|X	+|+	1|2	0|2	NCOA4|NCOA4	51254883|51254883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	6.568000|6.568000	0.73987|0.73987	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.478	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1		NM_005437		5	74	0	0	0	0.001984	0	5	74		
EXOC6	54536	broad.mit.edu	37	10	94733956	94733956	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:94733956G>A	ENST00000260762.6	+	18	1934	c.1920G>A	c.(1918-1920)ttG>ttA	p.L640L	EXOC6_ENST00000443748.2_Silent_p.L537L|EXOC6_ENST00000371547.4_Silent_p.L656L|EXOC6_ENST00000371552.4_Silent_p.L635L	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	640					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TAAATTTTTTGAGAAGCATCT	0.284																																						uc001kig.2		NaN																	0				skin(1)	1						c.(1918-1920)TTG>TTA		SEC15-like 1 isoform a							70.0	68.0	69.0					10																	94733956		2203	4300	6503	SO:0001819	synonymous_variant	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94733956G>A	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1920G>A	10.37:g.94733956G>A						EXOC6_uc010qnr.1_Silent_p.L656L|EXOC6_uc001kie.2_Silent_p.L635L|EXOC6_uc009xub.2_Silent_p.L639L|EXOC6_uc009xuc.2_Silent_p.L537L|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Silent_p.L214L	p.L640L	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN			18	1986	+		Colorectal(252;0.123)	640					E9PHI3|Q5VXH8|Q9NZ24	Silent	SNP	ENST00000260762.6	37	c.1920G>A	CCDS7424.2																																																																																				0.284	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2		NM_019053		5	56	0	0	0	0.00308	0	5	56		
SORBS1	10580	broad.mit.edu	37	10	97096846	97096846	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:97096846G>A	ENST00000361941.3	-	28	3097	c.3071C>T	c.(3070-3072)tCa>tTa	p.S1024L	SORBS1_ENST00000371247.2_Missense_Mutation_p.S1024L|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S978L	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGCCCTTGGTGACAAGGCGAG	0.607																																						uc001kkp.2		NaN																	0				breast(1)	1						c.(3070-3072)TCA>TTA		sorbin and SH3 domain containing 1 isoform 3							77.0	70.0	72.0					10																	97096846		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97096846G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3071C>T	10.37:g.97096846G>A	ENSP00000355136:p.Ser1024Leu					SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Intron|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Intron|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.S978L|SORBS1_uc010qoe.1_Intron	p.S1024L	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	28	3116	-		Colorectal(252;0.0429)	1024						Missense_Mutation	SNP	ENST00000361941.3	37	c.3071C>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	3.984	-0.005788	0.07773	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000361941	T;T;T	0.09350	3.06;2.99;3.06	5.05	0.848	0.18966	.	1.241390	0.06076	N	0.661033	T	0.06416	0.0165	N	0.14661	0.345	0.19575	N	0.999968	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43507	-0.9387	10	0.23891	T	0.37	10.9149	5.6073	0.17387	0.1907:0.3275:0.4818:0.0	.	978;1024	Q9BX66-11;Q9BX66	.;SRBS1_HUMAN	L	1024;978;1024	ENSP00000360293:S1024L;ENSP00000360271:S978L;ENSP00000355136:S1024L	ENSP00000355136:S1024L	S	-	2	0	SORBS1	97086836	0.772000	0.28567	0.000000	0.03702	0.075000	0.17131	3.308000	0.51896	-0.016000	0.14127	0.561000	0.74099	TCA		0.607	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1				11	26	0	0	0	0.001855	0	11	26		
SORBS1	10580	broad.mit.edu	37	10	97174257	97174257	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:97174257C>T	ENST00000361941.3	-	7	830	c.804G>A	c.(802-804)tcG>tcA	p.S268S	SORBS1_ENST00000371247.2_Silent_p.S268S|SORBS1_ENST00000354106.3_Silent_p.S259S|SORBS1_ENST00000371249.2_Silent_p.S236S|SORBS1_ENST00000371245.3_Silent_p.S199S|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Silent_p.S268S|SORBS1_ENST00000393949.1_Silent_p.S259S|SORBS1_ENST00000277982.5_Silent_p.S268S|SORBS1_ENST00000353505.5_Silent_p.S199S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371227.4_Silent_p.S268S	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TTACGGTACTCGAAACAGCTC	0.602																																						uc001kkp.2		NaN																	0				breast(1)	1						c.(802-804)TCG>TCA		sorbin and SH3 domain containing 1 isoform 3							46.0	49.0	48.0					10																	97174257		2203	4299	6502	SO:0001819	synonymous_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97174257C>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.804G>A	10.37:g.97174257C>T						SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Silent_p.S268S|SORBS1_uc001kkq.2_Silent_p.S199S|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Silent_p.S236S|SORBS1_uc001kkw.2_Silent_p.S268S|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Silent_p.S466S|SORBS1_uc001kkx.1_Silent_p.S236S	p.S268S	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	7	849	-		Colorectal(252;0.0429)	268						Silent	SNP	ENST00000361941.3	37	c.804G>A	CCDS31255.1																																																																																				0.602	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1				10	63	0	0	0	0.008291	0	10	63		
GBF1	8729	broad.mit.edu	37	10	104111130	104111130	+	Splice_Site	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:104111130A>T	ENST00000369983.3	+	5	673	c.413A>T	c.(412-414)cAg>cTg	p.Q138L		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	138					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)		AAAATCCTTCAGGTAAGCGAG	0.517																																						uc001kux.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(412-414)CAG>CTG		golgi-specific brefeldin A resistant guanine							86.0	74.0	78.0					10																	104111130		2203	4300	6503	SO:0001630	splice_region_variant	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.chr10:104111130A>T	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.414+1A>T	10.37:g.104111130A>T						GBF1_uc001kuw.2_Missense_Mutation_p.Q138L|GBF1_uc001kuy.1_Missense_Mutation_p.Q138L|GBF1_uc001kuz.1_Missense_Mutation_p.Q138L	p.Q138L	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	5	653	+		Colorectal(252;0.0236)	138					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.413A>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500444	0.85176	.	.	ENSG00000107862	ENST00000369983	T	0.69806	-0.43	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.76170	2.325	0.80722	D	1	P;P;D;P	0.59357	0.866;0.624;0.985;0.737	B;B;P;B	0.61201	0.436;0.358;0.885;0.347	T	0.82442	-0.0455	10	0.72032	D	0.01	-13.8328	16.4728	0.84119	1.0:0.0:0.0:0.0	.	138;138;138;138	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	L	138	ENSP00000359000:Q138L	ENSP00000359000:Q138L	Q	+	2	0	GBF1	104101120	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.097000	0.94193	2.296000	0.77279	0.482000	0.46254	CAG		0.517	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			Missense_Mutation	8	42	0	0	0	0.004482	0	8	42		
GBF1	8729	broad.mit.edu	37	10	104136749	104136749	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:104136749G>C	ENST00000369983.3	+	33	4603	c.4343G>C	c.(4342-4344)cGc>cCc	p.R1448P		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	1448					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)		AAAGGGAACCGCTTCAAGAAG	0.517																																						uc001kux.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(4342-4344)CGC>CCC		golgi-specific brefeldin A resistant guanine							123.0	117.0	119.0					10																	104136749		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.chr10:104136749G>C	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.4343G>C	10.37:g.104136749G>C	ENSP00000359000:p.Arg1448Pro					GBF1_uc001kuy.1_Missense_Mutation_p.R1448P|GBF1_uc001kuz.1_Missense_Mutation_p.R1449P	p.R1448P	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	33	4583	+		Colorectal(252;0.0236)	1448					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4343G>C	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449176	0.63178	.	.	ENSG00000107862	ENST00000369983	T	0.11385	2.78	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	M	0.62723	1.935	0.80722	D	1	B;B;D	0.67145	0.028;0.012;0.996	B;B;P	0.58454	0.016;0.004;0.839	T	0.00870	-1.1533	10	0.59425	D	0.04	-12.7008	18.396	0.90499	0.0:0.0:1.0:0.0	.	1448;1448;1448	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	P	1448	ENSP00000359000:R1448P	ENSP00000359000:R1448P	R	+	2	0	GBF1	104126739	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.180000	0.94867	2.564000	0.86499	0.561000	0.74099	CGC		0.517	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1				12	96	0	0	0	0.013537	0	12	96		
CNNM2	54805	broad.mit.edu	37	10	104678597	104678597	+	Silent	SNP	C	C	T	rs142276906	byFrequency	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:104678597C>T	ENST00000369878.4	+	1	548	c.360C>T	c.(358-360)ttC>ttT	p.F120F	CNNM2_ENST00000369875.3_Silent_p.F120F|CNNM2_ENST00000433628.2_Silent_p.F120F	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	120					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCATCGCCTTCACCGAGCACG	0.731													C|||	8	0.00159744	0.0045	0.0029	5008	,	,		10613	0.0		0.0	False		,,,				2504	0.0					uc001kwm.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(358-360)TTC>TTT		cyclin M2 isoform 1		C	,,	32,4330		0,32,2149	16.0	17.0	16.0		360,360,360	3.0	1.0	10	dbSNP_134	16	0,8582		0,0,4291	no	coding-synonymous,coding-synonymous,coding-synonymous	CNNM2	NM_017649.3,NM_199076.1,NM_199077.1	,,	0,32,6440	TT,TC,CC		0.0,0.7336,0.2472	,,	120/876,120/854,120/553	104678597	32,12912	2181	4291	6472	SO:0001819	synonymous_variant	54805				ion transport	integral to membrane		g.chr10:104678597C>T	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.360C>T	10.37:g.104678597C>T						CNNM2_uc001kwn.2_Silent_p.F120F|CNNM2_uc001kwl.2_Silent_p.F120F	p.F120F	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	484	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	120					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Silent	SNP	ENST00000369878.4	37	c.360C>T	CCDS44474.1																																																																																				0.731	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3		NM_017649		4	25	0	0	0	0.009096	0	4	25		
CFAP58	159686	broad.mit.edu	37	10	106139900	106139900	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:106139900G>A	ENST00000369704.3	+	9	1421	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	CCDC147_ENST00000312902.5_Silent_p.Q51Q|CCDC147_ENST00000369703.1_Silent_p.Q51Q	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		429						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATGAGGCTCAGAAGCAGAGAA	0.488																																						uc001kyh.2		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1285-1287)CAG>CAA		coiled-coil domain containing 147							130.0	121.0	124.0					10																	106139900		2203	4300	6503	SO:0001819	synonymous_variant	159686							g.chr10:106139900G>A																												ENST00000369704.3:c.1287G>A	10.37:g.106139900G>A							p.Q429Q	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	9	1421	+		Colorectal(252;0.103)|Breast(234;0.122)	429			Potential.		D3DRA6|Q8NA27	Silent	SNP	ENST00000369704.3	37	c.1287G>A	CCDS31282.1																																																																																				0.488	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1				17	68	0	0	0	0.007413	0	17	68		
SORCS1	114815	broad.mit.edu	37	10	108357148	108357148	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:108357148C>T	ENST00000263054.6	-	24	3233	c.3226G>A	c.(3226-3228)Gga>Aga	p.G1076R	SORCS1_ENST00000478809.2_5'Flank|SORCS1_ENST00000344440.6_Missense_Mutation_p.G1076R|SORCS1_ENST00000369698.1_Missense_Mutation_p.G611R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1076					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACTCGGACTCCTGGCTTCAGC	0.502																																						uc001kym.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(3226-3228)GGA>AGA		SORCS receptor 1 isoform a							154.0	139.0	144.0					10																	108357148		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108357148C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3226G>A	10.37:g.108357148C>T	ENSP00000263054:p.Gly1076Arg					SORCS1_uc001kyl.2_Missense_Mutation_p.G1076R|SORCS1_uc009xxs.2_Missense_Mutation_p.G1076R|SORCS1_uc001kyn.1_Missense_Mutation_p.G1076R|SORCS1_uc001kyo.2_Missense_Mutation_p.G1076R	p.G1076R	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	24	3234	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1076			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.3226G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780145	0.90195	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.29655	1.56;2.09;2.04	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.61763	0.2373	M	0.83483	2.645	0.58432	D	0.999996	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.986;0.994;0.994;0.986;0.994	T	0.61850	-0.6978	9	.	.	.	-20.486	19.936	0.97142	0.0:1.0:0.0:0.0	.	1076;1076;1076;1076;1076	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	R	611;1076;1076	ENSP00000358712:G611R;ENSP00000263054:G1076R;ENSP00000345964:G1076R	.	G	-	1	0	SORCS1	108347138	0.999000	0.42202	0.946000	0.38457	0.884000	0.51177	5.994000	0.70623	2.814000	0.96858	0.655000	0.94253	GGA		0.502	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4		NM_052918		3	69	0	0	0	0.009096	0	3	69		
ZDHHC6	64429	broad.mit.edu	37	10	114190585	114190585	+	Missense_Mutation	SNP	C	C	T	rs369541274		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:114190585C>T	ENST00000369405.3	-	11	1642	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.E403K|ZDHHC6_ENST00000482410.1_5'UTR	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	407					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TTCTCCCCCTCTGGGGCTTGA	0.358																																						uc001kzv.2		NaN																	0					0						c.(1219-1221)GAG>AAG		zinc finger, DHHC-type containing 6		C	LYS/GLU	0,4406		0,0,2203	99.0	96.0	97.0		1219	5.8	1.0	10		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZDHHC6	NM_022494.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	407/414	114190585	1,13005	2203	4300	6503	SO:0001583	missense	64429					integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:114190585C>T	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.1219G>A	10.37:g.114190585C>T	ENSP00000358413:p.Glu407Lys					ZDHHC6_uc001kzw.2_Missense_Mutation_p.E403K	p.E407K	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN		Epithelial(162;0.0291)|all cancers(201;0.117)	11	1643	-		Colorectal(252;0.198)	407					D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	c.1219G>A	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051947	0.55218	0.0	1.16E-4	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.66638	0.52;-0.22	5.8	5.8	0.92144	.	0.243498	0.48286	D	0.000183	T	0.61887	0.2383	L	0.44542	1.39	0.47407	D	0.999416	B;B	0.25609	0.13;0.079	B;B	0.18561	0.022;0.01	T	0.55049	-0.8201	10	0.33940	T	0.23	-10.3688	20.418	0.99029	0.0:1.0:0.0:0.0	.	403;407	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	K	407;403	ENSP00000358413:E407K;ENSP00000358412:E403K	ENSP00000358412:E403K	E	-	1	0	ZDHHC6	114180575	1.000000	0.71417	0.967000	0.41034	0.517000	0.34286	5.150000	0.64869	2.902000	0.99343	0.650000	0.86243	GAG		0.358	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1		NM_022494		6	74	0	0	0	0.004482	0	6	74		
ATRNL1	26033	broad.mit.edu	37	10	117026389	117026389	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:117026389G>A	ENST00000355044.3	+	12	2014	c.1888G>A	c.(1888-1890)Ggg>Agg	p.G630R		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	630	PSI 1.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G630R(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGCTGGTCCAGGGATAAAATG	0.363																																						uc001lcg.2		NaN																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(1888-1890)GGG>AGG		attractin-like 1 precursor							102.0	115.0	111.0					10																	117026389		2203	4299	6502	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117026389G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1888G>A	10.37:g.117026389G>A	ENSP00000347152:p.Gly630Arg						p.G630R	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	12	2274	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	630			PSI 1.|Kelch 6.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.1888G>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784735	0.90282	.	.	ENSG00000107518	ENST00000355044	T	0.15834	2.39	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	M	0.75085	2.285	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	T	0.32613	-0.9900	10	0.72032	D	0.01	-12.2556	19.9828	0.97334	0.0:0.0:1.0:0.0	.	630	Q5VV63	ATRN1_HUMAN	R	630	ENSP00000347152:G630R	ENSP00000347152:G630R	G	+	1	0	ATRNL1	117016379	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.186000	0.94906	2.718000	0.92993	0.460000	0.39030	GGG		0.363	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3		XM_049349		12	90	0	0	0	0.003163	0	12	90		
RGS10	6001	broad.mit.edu	37	10	121286922	121286922	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:121286922C>G	ENST00000369101.3	-	1	67	c.40G>C	c.(40-42)Gat>Cat	p.D14H	RGS10_ENST00000392865.1_Missense_Mutation_p.D8H|RGS10_ENST00000469575.1_5'Flank|RGS10_ENST00000369103.2_Missense_Mutation_p.D22H			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	14					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		GAACTGCCATCGCTGTCGTGG	0.517																																						uc001lee.2		NaN																	0					0						c.(40-42)GAT>CAT		regulator of G-protein signaling 10 isoform b							100.0	90.0	93.0					10																	121286922		2203	4300	6503	SO:0001583	missense	6001				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr10:121286922C>G	AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"""Regulators of G-protein signaling"""	9992	protein-coding gene	gene with protein product		602856	"""regulator of G-protein signalling 10"""			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.40G>C	10.37:g.121286922C>G	ENSP00000358097:p.Asp14His					RGS10_uc001lef.2_Missense_Mutation_p.D8H|RGS10_uc001leg.2_Missense_Mutation_p.D22H	p.D14H	NM_002925	NP_002916	O43665	RGS10_HUMAN		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)	1	40	-		Lung NSC(174;0.094)|all_lung(145;0.123)	14					A8K408|B1AMR8|Q6IAZ6|Q96GN0	Missense_Mutation	SNP	ENST00000369101.3	37	c.40G>C		.	.	.	.	.	.	.	.	.	.	C	17.85	3.490078	0.64074	.	.	ENSG00000148908	ENST00000392865;ENST00000369103;ENST00000369101	T;T;T	0.46819	0.87;0.86;0.87	5.63	5.63	0.86233	.	0.087975	0.48286	D	0.000190	T	0.50411	0.1614	N	0.08118	0	0.40430	D	0.97993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	T	0.59026	-0.7531	10	0.51188	T	0.08	-21.7861	16.9515	0.86246	0.0:1.0:0.0:0.0	.	22;8;14	O43665-3;O43665-2;O43665	.;.;RGS10_HUMAN	H	8;22;14	ENSP00000376605:D8H;ENSP00000358099:D22H;ENSP00000358097:D14H	ENSP00000358097:D14H	D	-	1	0	RGS10	121276912	0.996000	0.38824	0.767000	0.31495	0.608000	0.37181	4.370000	0.59517	2.808000	0.96608	0.551000	0.68910	GAT		0.517	RGS10-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050655.1		NM_002925		11	69	0	0	0	0.013537	0	11	69		
FAM24A	118670	broad.mit.edu	37	10	124671218	124671218	+	Missense_Mutation	SNP	C	C	T	rs369794433		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:124671218C>T	ENST00000368894.1	+	2	189	c.68C>T	c.(67-69)gCg>gTg	p.A23V		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	23						extracellular region (GO:0005576)				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CTGGTTGCCGCGATGGTGCTC	0.473																																						uc001lgv.2		NaN																	0				ovary(2)	2						c.(67-69)GCG>GTG		family with sequence similarity 24, member A		C	VAL/ALA	0,4406		0,0,2203	450.0	401.0	418.0		68	1.7	0.0	10		418	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM24A	NM_001029888.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	23/106	124671218	1,13005	2203	4300	6503	SO:0001583	missense	118670					extracellular region		g.chr10:124671218C>T		CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.68C>T	10.37:g.124671218C>T	ENSP00000357889:p.Ala23Val						p.A23V	NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)	2	189	+		all_neural(114;0.169)|Glioma(114;0.222)	23						Missense_Mutation	SNP	ENST00000368894.1	37	c.68C>T	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	C	0.126	-1.118891	0.01785	0.0	1.16E-4	ENSG00000203795	ENST00000368894	.	.	.	3.61	1.74	0.24563	.	2.171170	0.02764	N	0.118922	T	0.26846	0.0657	N	0.24115	0.695	0.09310	N	1	D	0.60160	0.987	P	0.48030	0.564	T	0.16630	-1.0396	9	0.28530	T	0.3	.	5.6964	0.17857	0.0:0.7513:0.0:0.2487	.	23	A6NFZ4	FA24A_HUMAN	V	23	.	ENSP00000357889:A23V	A	+	2	0	FAM24A	124661208	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.076000	0.14712	0.514000	0.28300	0.462000	0.41574	GCG		0.473	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1		XM_058332		51	284	0	0	0	0.01441	0	51	284		
JAKMIP3	282973	broad.mit.edu	37	10	133978214	133978214	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:133978214G>C	ENST00000298622.4	+	20	2597	c.2459G>C	c.(2458-2460)aGa>aCa	p.R820T	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	820						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCTCAGAAGAGACAAATAAAG	0.418																																						uc001lkx.3		NaN																	0				breast(1)	1						c.(2458-2460)AGA>ACA		Janus kinase and microtubule interacting protein							88.0	96.0	94.0					10																	133978214		2202	4298	6500	SO:0001583	missense	282973							g.chr10:133978214G>C	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2459G>C	10.37:g.133978214G>C	ENSP00000298622:p.Arg820Thr					JAKMIP3_uc009yba.1_Missense_Mutation_p.R257T	p.R820T	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	20	2459	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.2459G>C	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297120	0.81025	.	.	ENSG00000188385	ENST00000298622	T	0.29655	1.56	3.77	3.77	0.43336	.	.	.	.	.	T	0.52565	0.1742	M	0.65975	2.015	0.46396	D	0.99902	D;D	0.89917	1.0;0.989	D;D	0.85130	0.997;0.985	T	0.52779	-0.8530	9	0.35671	T	0.21	.	16.2013	0.82084	0.0:0.0:1.0:0.0	.	257;820	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	T	820	ENSP00000298622:R820T	ENSP00000298622:R820T	R	+	2	0	JAKMIP3	133828204	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.395000	0.90188	2.128000	0.65567	0.558000	0.71614	AGA		0.418	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3		NM_194303		3	26	0	0	0	0.009096	0	3	26		
KNDC1	85442	broad.mit.edu	37	10	134981812	134981812	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:134981812T>C	ENST00000304613.3	+	3	377	c.356T>C	c.(355-357)tTt>tCt	p.F119S	KNDC1_ENST00000368572.2_Missense_Mutation_p.F119S|KNDC1_ENST00000368571.2_Missense_Mutation_p.F54S|KNDC1_ENST00000530127.1_3'UTR			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	119	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGAACACCTTTGAGGTAAGT	0.582																																						uc001llz.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(355-357)TTT>TCT		kinase non-catalytic C-lobe domain (KIND)							107.0	101.0	103.0					10																	134981812		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:134981812T>C	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.356T>C	10.37:g.134981812T>C	ENSP00000304437:p.Phe119Ser					KNDC1_uc001lma.1_Missense_Mutation_p.F54S	p.F119S	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	3	357	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	119			KIND 1.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.356T>C	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355216	0.61293	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.27890	1.64;1.64;1.79	4.14	4.14	0.48551	KIND (2);	0.000000	0.64402	D	0.000004	T	0.51041	0.1651	M	0.65975	2.015	0.50171	D	0.999852	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.946	T	0.54794	-0.8240	10	0.87932	D	0	-11.0856	11.451	0.50154	0.0:0.0:0.0:1.0	.	54;119	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	S	119;119;54	ENSP00000304437:F119S;ENSP00000357561:F119S;ENSP00000357560:F54S	ENSP00000304437:F119S	F	+	2	0	KNDC1	134831802	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	6.736000	0.74811	1.668000	0.50843	0.397000	0.26171	TTT		0.582	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3		NM_152643		10	73	0	0	0	0.001855	0	10	73		
PAOX	196743	broad.mit.edu	37	10	135197564	135197564	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:135197564C>T	ENST00000278060.5	+	4	1052	c.969C>T	c.(967-969)atC>atT	p.I323I	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Silent_p.I323I	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	461					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)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACAACAAAATCTTCCTGGAGT	0.557																																						uc001lmv.2		NaN																	0					0						c.(967-969)ATC>ATT		polyamine oxidase isoform 1							97.0	100.0	99.0					10																	135197564		2203	4300	6503	SO:0001819	synonymous_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135197564C>T	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.969C>T	10.37:g.135197564C>T						PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Silent_p.I323I|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_Intron|PAOX_uc001lnc.2_Intron	p.I323I	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	4	1049	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	461					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	ENST00000278060.5	37	c.969C>T	CCDS7683.1																																																																																				0.557	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2		NM_152911		4	56	0	0	0	0.009096	0	4	56		
SOX6	55553	broad.mit.edu	37	11	16071318	16071318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:16071318C>T	ENST00000352083.6	-	11	1495	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	SOX6_ENST00000527619.1_Missense_Mutation_p.G435E|SOX6_ENST00000316399.6_Missense_Mutation_p.G473E|SOX6_ENST00000396356.3_Missense_Mutation_p.G473E|SOX6_ENST00000528252.1_Missense_Mutation_p.G432E|SOX6_ENST00000528429.1_Missense_Mutation_p.G473E			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	473					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GGATCCTCTTCCCAGGCTTCC	0.473																																						uc001mme.2		NaN																	0				ovary(3)	3						c.(1456-1458)GGA>GAA		SRY (sex determining region Y)-box 6 isoform 4							258.0	257.0	257.0					11																	16071318		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16071318C>T	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1418G>A	11.37:g.16071318C>T	ENSP00000339876:p.Gly473Glu					SOX6_uc001mmd.2_Missense_Mutation_p.G435E|SOX6_uc001mmf.2_Missense_Mutation_p.G432E|SOX6_uc001mmg.2_Missense_Mutation_p.G473E	p.G486E	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			11	1490	-			473					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.1457G>A		.	.	.	.	.	.	.	.	.	.	C	16.05	3.013766	0.54468	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.97710	-4.41;-4.5;-4.41;-4.45;-4.46;-4.5	5.91	5.91	0.95273	.	0.161269	0.56097	D	0.000034	D	0.96340	0.8806	L	0.53249	1.67	0.80722	D	1	B;B;P	0.40619	0.373;0.085;0.724	B;B;B	0.38458	0.187;0.049;0.274	D	0.96107	0.9074	10	0.49607	T	0.09	.	18.4858	0.90828	0.0:1.0:0.0:0.0	.	473;473;435	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	E	473;473;473;432;435;473	ENSP00000324948:G473E;ENSP00000339876:G473E;ENSP00000379644:G473E;ENSP00000432134:G432E;ENSP00000434455:G435E;ENSP00000433233:G473E	ENSP00000324948:G473E	G	-	2	0	SOX6	16027894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.430000	0.66501	2.808000	0.96608	0.655000	0.94253	GGA		0.473	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1		NM_033326		19	199	0	0	0	0.008871	0	19	199		
ABCC8	6833	broad.mit.edu	37	11	17428510	17428510	+	Silent	SNP	G	G	T	rs376413488		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:17428510G>T	ENST00000389817.3	-	25	3155	c.3087C>A	c.(3085-3087)atC>atA	p.I1029I	ABCC8_ENST00000302539.4_Silent_p.I1030I			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1029	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GCCAGTAGTCGATGGCCACCA	0.647																																						uc001mnc.2		NaN																	0				ovary(1)	1						c.(3085-3087)ATC>ATA		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	G		0,4400		0,0,2200	83.0	81.0	82.0		3087	-1.6	1.0	11		82	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	ABCC8	NM_000352.3		0,1,6492	TT,TG,GG		0.0116,0.0,0.0077		1029/1582	17428510	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428510G>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3087C>A	11.37:g.17428510G>T							p.I1029I	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	25	3213	-			1029			ABC transmembrane type-1 2.|Extracellular (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.3087C>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	39	7.607945	0.98387	0.0	1.16E-4	ENSG00000006071	ENST00000379493	.	.	.	5.97	-1.59	0.08453	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.1043	0.20065	0.4352:0.0:0.3623:0.2025	.	.	.	.	X	1000	.	ENSP00000368807:S1000X	S	-	2	0	ABCC8	17385086	0.005000	0.15991	0.985000	0.45067	0.963000	0.63663	-0.912000	0.04046	-0.350000	0.08262	-0.797000	0.03246	TCG		0.647	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1		NM_000352		6	97	1	0	1.06961e-07	0.00308	1.15426e-07	6	97		
BDNF	627	broad.mit.edu	37	11	27679688	27679688	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:27679688C>G	ENST00000525528.1	-	1	1517	c.424G>C	c.(424-426)Gac>Cac	p.D142H	BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000418212.1_Missense_Mutation_p.D142H|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395981.3_Missense_Mutation_p.D142H|BDNF_ENST00000420794.1_Missense_Mutation_p.D142H|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.D150H|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.D142H|BDNF_ENST00000356660.4_Missense_Mutation_p.D142H|BDNF_ENST00000532997.1_Missense_Mutation_p.D142H|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000395980.2_Missense_Mutation_p.D142H|BDNF_ENST00000438929.1_Missense_Mutation_p.D224H|BDNF_ENST00000525950.1_Missense_Mutation_p.D142H|BDNF_ENST00000395986.2_Missense_Mutation_p.D157H|BDNF_ENST00000530861.1_Missense_Mutation_p.D142H|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000395978.3_Missense_Mutation_p.D142H|BDNF_ENST00000533131.1_Missense_Mutation_p.D142H|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.D142H|BDNF_ENST00000395983.3_Missense_Mutation_p.D142H	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	142					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						CTAATACTGTCACACACGCTC	0.542																																						uc010rdu.1		NaN																	0					0						c.(424-426)GAC>CAC		brain-derived neurotrophic factor isoform a							116.0	116.0	116.0					11																	27679688		2202	4299	6501	SO:0001583	missense	627					extracellular region	growth factor activity	g.chr11:27679688C>G	AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.424G>C	11.37:g.27679688C>G	ENSP00000437138:p.Asp142His					BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Missense_Mutation_p.D142H|BDNF_uc001mrt.2_Missense_Mutation_p.D157H|BDNF_uc010rdw.1_Missense_Mutation_p.D142H|BDNF_uc009yjd.2_Missense_Mutation_p.D142H|BDNF_uc001mru.2_Missense_Mutation_p.D142H|BDNF_uc010rdx.1_Missense_Mutation_p.D142H|BDNF_uc010rdy.1_Missense_Mutation_p.D142H|BDNF_uc009yjg.2_Missense_Mutation_p.D142H|BDNF_uc009yje.2_Missense_Mutation_p.D224H|BDNF_uc009yjf.2_Missense_Mutation_p.D171H|BDNF_uc001mrv.2_Missense_Mutation_p.D142H|BDNF_uc001mrw.3_Missense_Mutation_p.D142H|BDNF_uc001mrx.2_Missense_Mutation_p.D142H|BDNF_uc001mry.3_Missense_Mutation_p.D142H|BDNF_uc001mrz.3_Missense_Mutation_p.D142H|BDNF_uc001msa.2_Missense_Mutation_p.D150H	p.D142H	NM_001143816	NP_001137288	P23560	BDNF_HUMAN			2	1275	-			142					A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	ENST00000525528.1	37	c.424G>C	CCDS7866.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233817	0.39498	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	6.08	5.17	0.71159	Nerve growth factor-related (5);	0.050214	0.85682	D	0.000000	D	0.84597	0.5507	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.99;1.0;1.0;1.0	D;P;D;D;D	0.97110	1.0;0.9;0.998;0.999;0.998	D	0.87017	0.2126	10	0.87932	D	0	-8.8305	15.3297	0.74196	0.0:0.9333:0.0:0.0667	.	171;224;150;142;157	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	H	142;142;157;142;142;142;142;142;142;224;142;142;142;142;142;150;142;142	ENSP00000389345:D142H;ENSP00000437138:D142H;ENSP00000379309:D157H;ENSP00000432727:D142H;ENSP00000349084:D142H;ENSP00000400502:D142H;ENSP00000432376:D142H;ENSP00000435564:D142H;ENSP00000379307:D142H;ENSP00000414303:D224H;ENSP00000379304:D142H;ENSP00000435805:D142H;ENSP00000379305:D142H;ENSP00000379302:D142H;ENSP00000432035:D142H;ENSP00000320002:D150H;ENSP00000389564:D142H	ENSP00000320002:D150H	D	-	1	0	BDNF	27636264	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.019000	0.70818	1.580000	0.49851	0.591000	0.81541	GAC		0.542	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1		NM_170735		16	112	0	0	0	0.008871	0	16	112		
DGKZ	8525	broad.mit.edu	37	11	46389235	46389235	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:46389235G>C	ENST00000454345.1	+	4	996	c.871G>C	c.(871-873)Gag>Cag	p.E291Q	DGKZ_ENST00000343674.6_Missense_Mutation_p.E119Q|DGKZ_ENST00000527911.1_Missense_Mutation_p.E102Q|DGKZ_ENST00000532868.2_Missense_Mutation_p.E106Q|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000456247.2_Missense_Mutation_p.E102Q|DGKZ_ENST00000318201.8_Missense_Mutation_p.E102Q|DGKZ_ENST00000421244.2_Missense_Mutation_p.E102Q|DGKZ_ENST00000395574.3_Missense_Mutation_p.E68Q|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	291					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CATCTGGTTCGAGACCAACGT	0.657											OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ncn.1		NaN																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(871-873)GAG>CAG		diacylglycerol kinase zeta isoform 4							130.0	102.0	111.0					11																	46389235		2202	4299	6501	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46389235G>C	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.871G>C	11.37:g.46389235G>C	ENSP00000412178:p.Glu291Gln		OREG0020942	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	938	DGKZ_uc001nch.1_Missense_Mutation_p.E119Q|DGKZ_uc010rgq.1_Missense_Mutation_p.E68Q|DGKZ_uc001ncj.1_Missense_Mutation_p.E68Q|DGKZ_uc010rgr.1_Missense_Mutation_p.E67Q|DGKZ_uc001nck.1_5'UTR|DGKZ_uc001ncl.2_Missense_Mutation_p.E102Q|DGKZ_uc001ncm.2_Missense_Mutation_p.E102Q|DGKZ_uc009yky.1_Missense_Mutation_p.E102Q|DGKZ_uc010rgs.1_Missense_Mutation_p.E102Q|DGKZ_uc001nci.1_Missense_Mutation_p.E68Q	p.E291Q	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	4	996	+			291			Phorbol-ester/DAG-type 1.		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.871G>C	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	35	5.496848	0.96355	.	.	ENSG00000149091	ENST00000343674;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345;ENST00000524448	D;T;T;T;D;T;T;T;T	0.84660	-1.88;2.57;2.62;3.56;-1.88;2.45;2.52;1.79;2.79	5.16	5.16	0.70880	Protein kinase C-like, phorbol ester/diacylglycerol binding (1);	0.091527	0.85682	D	0.000000	D	0.91492	0.7314	M	0.68317	2.08	0.80722	D	1	P;D;D;P;D;P;P;D;D;B	0.89917	0.942;0.997;0.999;0.771;0.999;0.732;0.853;0.998;1.0;0.14	P;P;D;P;D;P;P;D;D;B	0.91635	0.551;0.907;0.954;0.491;0.935;0.512;0.689;0.954;0.999;0.064	D	0.89923	0.4060	10	0.34782	T	0.22	.	19.0817	0.93185	0.0:0.0:1.0:0.0	.	102;67;68;102;291;102;102;68;68;119	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZWA5;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.;.	Q	119;68;67;102;102;102;102;291;12	ENSP00000343065:E119Q;ENSP00000378941:E68Q;ENSP00000436273:E67Q;ENSP00000436291:E102Q;ENSP00000395684:E102Q;ENSP00000391021:E102Q;ENSP00000320340:E102Q;ENSP00000412178:E291Q;ENSP00000435763:E12Q	ENSP00000320340:E102Q	E	+	1	0	DGKZ	46345811	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.713000	0.98740	2.588000	0.87417	0.555000	0.69702	GAG		0.657	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1		NM_001105540		12	64	0	0	0	0.003163	0	12	64		
DGKZ	8525	broad.mit.edu	37	11	46394037	46394037	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:46394037G>A	ENST00000454345.1	+	12	1676	c.1551G>A	c.(1549-1551)ctG>ctA	p.L517L	DGKZ_ENST00000343674.6_Silent_p.L345L|DGKZ_ENST00000527911.1_Silent_p.L329L|DGKZ_ENST00000532868.2_Silent_p.L333L|DGKZ_ENST00000528615.1_Silent_p.L107L|DGKZ_ENST00000456247.2_Silent_p.L328L|DGKZ_ENST00000318201.8_Silent_p.L306L|DGKZ_ENST00000421244.2_Silent_p.L329L|DGKZ_ENST00000395574.3_Silent_p.L295L|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	517	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.|Mediates interaction with RASGRP1.				blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCTTCGACCTGAGCCAGGGAG	0.577																																						uc001ncn.1		NaN																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(1549-1551)CTG>CTA		diacylglycerol kinase zeta isoform 4							80.0	71.0	74.0					11																	46394037		2202	4299	6501	SO:0001819	synonymous_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46394037G>A	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1551G>A	11.37:g.46394037G>A						DGKZ_uc001nch.1_Silent_p.L345L|DGKZ_uc010rgq.1_Silent_p.L272L|DGKZ_uc001ncj.1_Silent_p.L295L|DGKZ_uc010rgr.1_Silent_p.L294L|DGKZ_uc001nck.1_Silent_p.L107L|DGKZ_uc001ncl.2_Silent_p.L329L|DGKZ_uc001ncm.2_Silent_p.L328L|DGKZ_uc009yky.1_Silent_p.L329L|DGKZ_uc010rgs.1_Silent_p.L306L	p.L517L	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	12	1676	+			517			DAGKc.|Mediates interaction with RASGRP1.		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	ENST00000454345.1	37	c.1551G>A	CCDS41640.1																																																																																				0.577	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1		NM_001105540		8	90	0	0	0	0.008291	0	8	90		
OR4C6	219432	broad.mit.edu	37	11	55432656	55432656	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:55432656A>G	ENST00000314259.3	+	1	43	c.14A>G	c.(13-15)aAc>aGc	p.N5S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GAAAATCAAAACAATGTGACT	0.373																																						uc001nht.3		NaN																	0				skin(2)	2						c.(13-15)AAC>AGC		olfactory receptor, family 4, subfamily C,							94.0	90.0	91.0					11																	55432656		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432656A>G	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.14A>G	11.37:g.55432656A>G	ENSP00000324769:p.Asn5Ser					OR4C6_uc010rik.1_Missense_Mutation_p.N5S	p.N5S	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	279	+			5			Extracellular (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.14A>G	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	A	0.645	-0.811799	0.02798	.	.	ENSG00000181903	ENST00000314259	T	0.24151	1.87	3.83	1.19	0.21007	.	0.546488	0.15198	N	0.275192	T	0.08179	0.0204	N	0.01800	-0.715	0.09310	N	1	B	0.17852	0.024	B	0.20767	0.031	T	0.31280	-0.9949	10	0.27785	T	0.31	.	4.3348	0.11081	0.6848:0.2011:0.114:0.0	.	5	Q8NH72	OR4C6_HUMAN	S	5	ENSP00000324769:N5S	ENSP00000324769:N5S	N	+	2	0	OR4C6	55189232	0.000000	0.05858	0.857000	0.33713	0.069000	0.16628	0.060000	0.14342	0.368000	0.24481	-0.473000	0.04963	AAC		0.373	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1		NM_001004704		12	80	0	0	0	0.004007	0	12	80		
OR8H2	390151	broad.mit.edu	37	11	55872685	55872685	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:55872685T>G	ENST00000313503.1	+	1	167	c.167T>G	c.(166-168)cTt>cGt	p.L56R		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GACCTCCAGCTTCACACTCCC	0.428										HNSCC(53;0.14)																												uc010riy.1		NaN																	0				ovary(1)|skin(1)	2						c.(166-168)CTT>CGT		olfactory receptor, family 8, subfamily H,							268.0	243.0	251.0					11																	55872685		2201	4294	6495	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872685T>G	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.167T>G	11.37:g.55872685T>G	ENSP00000323982:p.Leu56Arg	HNSCC(53;0.14)					p.L56R	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	167	+	Esophageal squamous(21;0.00693)		56			Helical; Name=2; (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.167T>G	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	t	15.07	2.722911	0.48728	.	.	ENSG00000181767	ENST00000313503	T	0.03004	4.08	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000261	T	0.32734	0.0839	H	0.99404	4.55	0.41873	D	0.990286	D	0.89917	1.0	D	0.71184	0.972	T	0.60796	-0.7192	10	0.87932	D	0	.	12.9346	0.58307	0.0:0.0:0.0:1.0	.	56	Q8N162	OR8H2_HUMAN	R	56	ENSP00000323982:L56R	ENSP00000323982:L56R	L	+	2	0	OR8H2	55629261	1.000000	0.71417	0.888000	0.34837	0.204000	0.24138	5.590000	0.67530	1.590000	0.49995	0.362000	0.22060	CTT		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1		NM_001005200		24	264	0	0	0	0.00632	0	24	264		
OR9Q1	219956	broad.mit.edu	37	11	57947223	57947223	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:57947223C>T	ENST00000335397.3	+	3	623	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	103						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)				TCAGTTCTTTCTGTTCACCTT	0.542																																						uc001nmj.2		NaN																	0				ovary(1)	1						c.(307-309)CTG>TTG		olfactory receptor, family 9, subfamily Q,							139.0	110.0	120.0					11																	57947223		2201	4296	6497	SO:0001819	synonymous_variant	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947223C>T	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.307C>T	11.37:g.57947223C>T							p.L103L	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	623	+		Breast(21;0.222)	103			Helical; Name=3; (Potential).		Q2TAN3|Q96RA7	Silent	SNP	ENST00000335397.3	37	c.307C>T	CCDS31543.1																																																																																				0.542	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2		NM_001005212		8	64	0	0	0	0.004482	0	8	64		
OR5AN1	390195	broad.mit.edu	37	11	59132579	59132579	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:59132579G>C	ENST00000313940.2	+	1	695	c.648G>C	c.(646-648)atG>atC	p.M216I		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	216						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(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TAGTTATCATGATATCCTATG	0.418																																						uc010rks.1		NaN																	0				ovary(1)	1						c.(646-648)ATG>ATC		olfactory receptor, family 5, subfamily AN,							214.0	191.0	199.0					11																	59132579		2201	4295	6496	SO:0001583	missense	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132579G>C	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.648G>C	11.37:g.59132579G>C	ENSP00000320302:p.Met216Ile						p.M216I	NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN			1	648	+			216			Helical; Name=5; (Potential).		B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	c.648G>C	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	G	4.124	0.021244	0.08006	.	.	ENSG00000176495	ENST00000313940	T	0.00036	8.86	4.51	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.090917	0.48286	D	0.000181	T	0.00073	0.0002	N	0.02985	-0.445	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.18745	-1.0327	10	0.44086	T	0.13	-11.3483	4.214	0.10526	0.0865:0.2919:0.4719:0.1496	.	216	Q8NGI8	O5AN1_HUMAN	I	216	ENSP00000320302:M216I	ENSP00000320302:M216I	M	+	3	0	OR5AN1	58889155	0.000000	0.05858	0.739000	0.30968	0.230000	0.25150	-1.929000	0.01558	0.546000	0.28920	0.655000	0.94253	ATG		0.418	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1		NM_001004729		11	139	0	0	0	0.003163	0	11	139		
OSBP	5007	broad.mit.edu	37	11	59344488	59344488	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:59344488C>T	ENST00000263847.1	-	13	2550	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	691					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TACATGTTTTCTGCATTCTTC	0.463																																						uc001noc.1		NaN																	0				large_intestine(1)	1						c.(2071-2073)GAA>AAA		oxysterol binding protein							85.0	84.0	84.0					11																	59344488		2201	4295	6496	SO:0001583	missense	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59344488C>T	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.2071G>A	11.37:g.59344488C>T	ENSP00000263847:p.Glu691Lys					OSBP_uc009ymr.1_RNA	p.E691K	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	13	2551	-		all_epithelial(135;0.000236)	691					Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	c.2071G>A	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352996	0.82132	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	T	0.31510	1.49	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	L	0.58669	1.825	0.80722	D	1	P	0.45396	0.857	P	0.48982	0.597	T	0.18272	-1.0342	10	0.48119	T	0.1	-22.8608	19.5941	0.95527	0.0:1.0:0.0:0.0	.	691	P22059	OSBP1_HUMAN	K	691;291	ENSP00000263847:E691K	ENSP00000263847:E691K	E	-	1	0	OSBP	59101064	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.762000	0.85270	2.723000	0.93209	0.655000	0.94253	GAA		0.463	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1				3	65	0	0	0	0.004672	0	3	65		
VWCE	220001	broad.mit.edu	37	11	61034991	61034991	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:61034991G>C	ENST00000335613.5	-	16	2294	c.1908C>G	c.(1906-1908)ttC>ttG	p.F636L	VWCE_ENST00000535710.1_Missense_Mutation_p.F101L	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	636	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CGTTGTTATAGAAGATTCTGC	0.612																																						uc001nra.2		NaN																	0				ovary(1)	1						c.(1906-1908)TTC>TTG		von Willebrand factor C and EGF domains							135.0	106.0	116.0					11																	61034991		2203	4299	6502	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61034991G>C	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1908C>G	11.37:g.61034991G>C	ENSP00000334186:p.Phe636Leu					VWCE_uc001nrb.2_RNA	p.F636L	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			16	2187	-			636			VWFC 5.		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.1908C>G	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058092	0.76074	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.72051	-0.62;-0.62	4.83	4.83	0.62350	von Willebrand factor, type C (3);	0.000000	0.48286	D	0.000200	T	0.71367	0.3331	L	0.49126	1.545	0.34685	D	0.725115	P	0.51147	0.942	P	0.51866	0.682	T	0.80437	-0.1383	10	0.72032	D	0.01	.	9.516	0.39106	0.0976:0.0:0.9024:0.0	.	636	Q96DN2	VWCE_HUMAN	L	636;101	ENSP00000334186:F636L;ENSP00000442570:F101L	ENSP00000334186:F636L	F	-	3	2	VWCE	60791567	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.663000	0.46774	2.379000	0.81126	0.643000	0.83706	TTC		0.612	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1		NM_152718		8	71	0	0	0	0.008291	0	8	71		
ASRGL1	80150	broad.mit.edu	37	11	62124476	62124476	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:62124476G>C	ENST00000415229.2	+	4	566	c.351G>C	c.(349-351)ctG>ctC	p.L117L	ASRGL1_ENST00000535727.1_5'UTR|ASRGL1_ENST00000301776.5_Silent_p.L117L	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	117					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	ATTGCTTTCTGACTGACCAAG	0.398																																						uc001nte.3		NaN																	0					0						c.(349-351)CTG>CTC		asparaginase-like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						48.0	53.0	51.0					11																	62124476		2202	4299	6501	SO:0001819	synonymous_variant	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62124476G>C		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.351G>C	11.37:g.62124476G>C						ASRGL1_uc001ntf.3_Silent_p.L117L|ASRGL1_uc001ntg.3_5'UTR|ASRGL1_uc001nth.1_RNA	p.L117L	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN			4	635	+			117					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Silent	SNP	ENST00000415229.2	37	c.351G>C	CCDS8019.1																																																																																				0.398	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1		NM_001083926		3	61	0	0	0	0.000602	0	3	61		
UBXN1	51035	broad.mit.edu	37	11	62444099	62444099	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:62444099G>A	ENST00000301935.5	-	9	1023	c.857C>T	c.(856-858)tCt>tTt	p.S286F	UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000294119.2_3'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.S282F|UBXN1_ENST00000533000.1_Silent_p.L80L			Q04323	UBXN1_HUMAN	UBX domain protein 1	286	Interaction with BRCA1.|UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						GAGAACAGCAGAAGGCACGAG	0.483																																						uc001nul.1		NaN																	0					0						c.(856-858)TCT>TTT		UBX domain protein 1																																				SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62444099G>A		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.857C>T	11.37:g.62444099G>A	ENSP00000303991:p.Ser286Phe					UBXN1_uc001nuj.2_3'UTR|UBXN1_uc001num.1_Missense_Mutation_p.S282F|UBXN1_uc001nuk.2_3'UTR	p.S286F	NM_015853	NP_056937	Q04323	UBXN1_HUMAN			9	989	-			286			UBX.|Interaction with BRCA1.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.857C>T		.	.	.	.	.	.	.	.	.	.	G	17.64	3.439522	0.63067	.	.	ENSG00000162191	ENST00000301935;ENST00000537534;ENST00000529640;ENST00000534176	T;T;T	0.36157	1.27;1.27;1.29	4.58	4.58	0.56647	UBX (3);	.	.	.	.	T	0.55862	0.1947	.	.	.	0.58432	D	0.999995	D;D	0.69078	0.997;0.972	D;P	0.65874	0.939;0.877	T	0.58070	-0.7701	8	0.87932	D	0	.	11.0896	0.48108	0.0:0.1868:0.8132:0.0	.	282;286	E9PRQ7;Q04323	.;UBXN1_HUMAN	F	286;189;282;286	ENSP00000303991:S286F;ENSP00000435964:S282F;ENSP00000435625:S286F	ENSP00000303991:S286F	S	-	2	0	UBXN1	62200675	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.408000	0.66368	2.828000	0.97474	0.655000	0.94253	TCT		0.483	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1		NM_015853		3	6	0	0	0	0.004672	0	3	6		
NRXN2	9379	broad.mit.edu	37	11	64435996	64435996	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:64435996G>C	ENST00000377551.1	-	7	1489	c.1278C>G	c.(1276-1278)ttC>ttG	p.F426L	NRXN2_ENST00000409571.1_Missense_Mutation_p.F419L|NRXN2_ENST00000265459.6_Missense_Mutation_p.F426L|NRXN2_ENST00000377559.3_Missense_Mutation_p.F395L			Q9P2S2	NRX2A_HUMAN	neurexin 2	426	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CAATGTAGAAGAAGTCATCAG	0.612																																						uc001oar.2		NaN																	0				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(1276-1278)TTC>TTG		neurexin 2 isoform alpha-1 precursor							132.0	120.0	124.0					11																	64435996		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane		g.chr11:64435996G>C		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1278C>G	11.37:g.64435996G>C	ENSP00000366774:p.Phe426Leu					NRXN2_uc001oas.2_Missense_Mutation_p.F395L|NRXN2_uc001oaq.2_Missense_Mutation_p.F93L	p.F426L	NM_015080	NP_055895	P58401	NRX2B_HUMAN			9	1717	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.1278C>G	CCDS8077.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.23|15.23|15.23	2.771062|2.771062|2.771062	0.49680|0.49680|0.49680	.|.|.	.|.|.	ENSG00000110076|ENSG00000110076|ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300|ENST00000437746|ENST00000417749	T;T;T;T;T|.|.	0.77358|.|.	-1.09;-1.09;-1.09;-1.09;-1.09|.|.	4.91|4.91|4.91	4.0|4.0|4.0	0.46444|0.46444|0.46444	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);|.|.	0.000000|.|.	0.46145|.|.	U|.|.	0.000314|.|.	T|T|T	0.38692|0.38692|0.38692	0.1050|0.1050|0.1050	N|N|N	0.13098|0.13098|0.13098	0.295|0.295|0.295	0.45056|0.45056|0.45056	D|D|D	0.998074|0.998074|0.998074	B;B;B|.|.	0.27853|.|.	0.061;0.191;0.009|.|.	B;B;B|.|.	0.29267|.|.	0.01;0.1;0.006|.|.	T|T|T	0.15521|0.15521|0.15521	-1.0434|-1.0434|-1.0434	10|5|5	0.39692|.|.	T|.|.	0.17|.|.	.|.|.	10.8701|10.8701|10.8701	0.46879|0.46879|0.46879	0.0917:0.0:0.9083:0.0|0.0917:0.0:0.9083:0.0|0.0917:0.0:0.9083:0.0	.|.|.	395;426;172|.|.	Q9P2S2-2;Q9P2S2;E7EV67|.|.	.;NRX2A_HUMAN;.|.|.	L|V|C	426;395;426;395;419;182|201|172	ENSP00000366774:F426L;ENSP00000366782:F395L;ENSP00000265459:F426L;ENSP00000386416:F419L;ENSP00000388971:F182L|.|.	ENSP00000265459:F426L|.|.	F|L|S	-|-|-	3|1|2	2|0|0	NRXN2|NRXN2|NRXN2	64192572|64192572|64192572	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	2.695000|2.695000|2.695000	0.47043|0.47043|0.47043	1.283000|1.283000|1.283000	0.44513|0.44513|0.44513	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	TTC|CTT|TCT		0.612	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3		NM_015080		10	119	0	0	0	0.008291	0	10	119		
PPP6R3	55291	broad.mit.edu	37	11	68369379	68369379	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:68369379C>T	ENST00000393800.2	+	21	2495	c.2241C>T	c.(2239-2241)agC>agT	p.S747S	PPP6R3_ENST00000265636.5_Silent_p.S667S|PPP6R3_ENST00000529710.1_Silent_p.S667S|PPP6R3_ENST00000265637.4_Silent_p.S701S|PPP6R3_ENST00000393799.2_Silent_p.S747S|PPP6R3_ENST00000393801.3_Silent_p.S747S|PPP6R3_ENST00000524845.1_Silent_p.S718S|PPP6R3_ENST00000527403.2_Silent_p.S712S|PPP6R3_ENST00000534534.1_Silent_p.S515S|PPP6R3_ENST00000524904.1_Silent_p.S741S	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	747					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGGAAACCAGCACTGAACCCA	0.517																																						uc001onw.2		NaN																	0					0						c.(2239-2241)AGC>AGT		SAPS domain family, member 3 isoform 6							104.0	114.0	111.0					11																	68369379		2200	4294	6494	SO:0001819	synonymous_variant	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68369379C>T	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2241C>T	11.37:g.68369379C>T						SAPS3_uc001onv.2_Silent_p.S747S|SAPS3_uc001ony.3_Silent_p.S718S|SAPS3_uc001onx.2_Silent_p.S741S|SAPS3_uc009ysh.2_Silent_p.S667S|SAPS3_uc001onu.2_Silent_p.S667S|SAPS3_uc010rqc.1_Silent_p.S515S|SAPS3_uc010rqd.1_Silent_p.S430S|SAPS3_uc001onz.2_Silent_p.S75S|SAPS3_uc001ooa.2_Silent_p.S197S	p.S747S	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		21	2508	+			747					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	c.2241C>T	CCDS53672.1																																																																																				0.517	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1		NM_018312		16	136	0	0	0	0.008871	0	16	136		
PPP6R3	55291	broad.mit.edu	37	11	68377463	68377463	+	Silent	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:68377463A>C	ENST00000393800.2	+	23	2796	c.2542A>C	c.(2542-2544)Agg>Cgg	p.R848R	PPP6R3_ENST00000265636.5_Silent_p.R768R|PPP6R3_ENST00000529710.1_Silent_p.R768R|PPP6R3_ENST00000265637.4_Silent_p.R802R|PPP6R3_ENST00000393799.2_Silent_p.R854R|PPP6R3_ENST00000393801.3_Silent_p.R854R|PPP6R3_ENST00000524845.1_Silent_p.R819R|PPP6R3_ENST00000527403.2_Silent_p.R813R|PPP6R3_ENST00000534534.1_Silent_p.R616R|PPP6R3_ENST00000524904.1_Silent_p.R842R	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	848					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGCGGCGCCCAGGCCTCCCAG	0.612																																						uc001onw.2		NaN																	0					0						c.(2542-2544)AGG>CGG		SAPS domain family, member 3 isoform 6							62.0	60.0	60.0					11																	68377463		2200	4294	6494	SO:0001819	synonymous_variant	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68377463A>C	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2542A>C	11.37:g.68377463A>C						SAPS3_uc001onv.2_Silent_p.R854R|SAPS3_uc001ony.3_Silent_p.R819R|SAPS3_uc001onx.2_Silent_p.R842R|SAPS3_uc009ysh.2_Silent_p.R768R|SAPS3_uc001onu.2_Silent_p.R768R|SAPS3_uc010rqc.1_Silent_p.R616R|SAPS3_uc010rqd.1_Silent_p.R531R|SAPS3_uc001onz.2_Silent_p.R176R|SAPS3_uc001ooa.2_Silent_p.R304R	p.R848R	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	LUAD - Lung adenocarcinoma(13;0.102)		23	2809	+			848					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	c.2542A>C	CCDS53672.1																																																																																				0.612	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1		NM_018312		7	40	0	0	0	0.00308	0	7	40		
PPFIA1	8500	broad.mit.edu	37	11	70202353	70202353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:70202353C>T	ENST00000253925.7	+	19	2790	c.2575C>T	c.(2575-2577)Caa>Taa	p.Q859*	AP000487.4_ENST00000324630.5_RNA|PPFIA1_ENST00000389547.3_Nonsense_Mutation_p.Q859*|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	859					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCGTAAACTTCAAAAAAAGTA	0.393																																						uc001opo.2		NaN																	0				lung(2)|ovary(1)	3						c.(2575-2577)CAA>TAA		PTPRF interacting protein alpha 1 isoform b							82.0	87.0	85.0					11																	70202353		2200	4294	6494	SO:0001587	stop_gained	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70202353C>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2575C>T	11.37:g.70202353C>T	ENSP00000253925:p.Gln859*					PPFIA1_uc001opn.1_Nonsense_Mutation_p.Q859*|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.Q859*	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		19	2773	+			859			Potential.		A6NLE3|Q13135|Q14567|Q8N4I2	Nonsense_Mutation	SNP	ENST00000253925.7	37	c.2575C>T	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	C	40	8.281193	0.98740	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	.	.	.	4.95	4.95	0.65309	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.561	0.91100	0.0:1.0:0.0:0.0	.	.	.	.	X	859;859;356	.	ENSP00000253925:Q859X	Q	+	1	0	PPFIA1	69880001	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	2.108000	0.41854	2.457000	0.83068	0.655000	0.94253	CAA		0.393	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1		NM_003626		5	82	0	0	0	0.001168	0	5	82		
NADSYN1	55191	broad.mit.edu	37	11	71166203	71166203	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:71166203G>C	ENST00000319023.2	+	2	321	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	RP11-660L16.2_ENST00000529369.1_RNA	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	45	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GCTTGGACCAGAGCTGGAAAT	0.473																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.2		NaN																	0				ovary(2)	2						c.(133-135)GAG>CAG		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						109.0	104.0	105.0					11																	71166203		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71166203G>C	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.133G>C	11.37:g.71166203G>C	ENSP00000326424:p.Glu45Gln					NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR	p.E45Q	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			2	259	+			45			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.133G>C	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936380	0.92458	.	.	ENSG00000172890	ENST00000319023	D	0.97352	-4.35	5.63	5.63	0.86233	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99239	1.0884	10	0.87932	D	0	-28.6651	17.1631	0.86809	0.0:0.0:1.0:0.0	.	45	Q6IA69	NADE_HUMAN	Q	45	ENSP00000326424:E45Q	ENSP00000326424:E45Q	E	+	1	0	NADSYN1	70843851	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	7.670000	0.83925	2.650000	0.89964	0.655000	0.94253	GAG		0.473	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1		NM_018161		8	72	0	0	0	0.004482	0	8	72		
PCF11	51585	broad.mit.edu	37	11	82877138	82877138	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:82877138G>C	ENST00000298281.4	+	5	1651	c.1199G>C	c.(1198-1200)aGa>aCa	p.R400T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	400	Lys-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATGAACAAGAGAGATCCAAGA	0.338																																						uc001ozx.3		NaN																	0				ovary(1)	1						c.(1198-1200)AGA>ACA		pre-mRNA cleavage complex II protein Pcf11							47.0	44.0	45.0					11																	82877138		1838	4093	5931	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877138G>C	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1199G>C	11.37:g.82877138G>C	ENSP00000298281:p.Arg400Thr					PCF11_uc010rsu.1_Missense_Mutation_p.R400T	p.R400T	NM_015885	NP_056969	O94913	PCF11_HUMAN			5	1544	+			400			Lys-rich.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1199G>C	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658655	0.67586	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.52526	1.6;0.66;0.71	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000003	T	0.53094	0.1775	L	0.29908	0.895	0.49130	D	0.999754	D;D	0.63880	0.993;0.993	P;P	0.55508	0.777;0.714	T	0.40478	-0.9561	9	.	.	.	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	400;400	E9PQ01;O94913	.;PCF11_HUMAN	T	400	ENSP00000298281:R400T;ENSP00000434540:R400T;ENSP00000431567:R400T	.	R	+	2	0	PCF11	82554786	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.844000	0.75390	2.798000	0.96311	0.655000	0.94253	AGA		0.338	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2		NM_015885		3	16	0	0	0	0.009096	0	3	16		
NOX4	50507	broad.mit.edu	37	11	89177304	89177304	+	Splice_Site	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:89177304T>A	ENST00000263317.4	-	5	684	c.446A>T	c.(445-447)gAg>gTg	p.E149V	NOX4_ENST00000527626.1_Intron|NOX4_ENST00000343727.5_Splice_Site_p.E125V|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000534731.1_Splice_Site_p.E149V|NOX4_ENST00000413594.2_Splice_Site_p.E170V|NOX4_ENST00000525196.1_Splice_Site_p.E149V|NOX4_ENST00000532825.1_Splice_Site_p.E125V|NOX4_ENST00000424319.1_Splice_Site_p.E125V|NOX4_ENST00000528341.1_Splice_Site_p.E124V|NOX4_ENST00000535633.1_Splice_Site_p.E125V|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527956.1_Splice_Site_p.E125V|NOX4_ENST00000542487.1_Splice_Site_p.E125V			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	149	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ACCACCCACCTCATCTCGGTA	0.448																																						uc001pct.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(445-447)GAG>GTG		NADPH oxidase 4 isoform a							148.0	130.0	136.0					11																	89177304		2201	4299	6500	SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89177304T>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.447+1A>T	11.37:g.89177304T>A						NOX4_uc009yvr.2_Missense_Mutation_p.E124V|NOX4_uc001pcu.2_Missense_Mutation_p.E75V|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.E149V|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Missense_Mutation_p.E149V|NOX4_uc010rtv.1_Missense_Mutation_p.E125V|NOX4_uc009yvq.2_Missense_Mutation_p.E125V|NOX4_uc009yvs.1_RNA	p.E149V	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			5	685	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	149			Extracellular (Potential).|Ferric oxidoreductase.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.446A>T	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367826	0.82463	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	4.96	4.96	0.65561	Flavoprotein transmembrane component (1);	0.207467	0.41194	D	0.000937	D	0.91875	0.7428	L	0.37630	1.12	0.58432	D	0.999997	P;P;D;B;B	0.76494	0.484;0.802;0.999;0.058;0.415	B;P;D;B;B	0.69824	0.351;0.751;0.966;0.061;0.212	D	0.91042	0.4872	9	.	.	.	-11.5672	13.9007	0.63802	0.0:0.0:0.0:1.0	.	125;124;149;149;149	E9PMY6;E9PPP2;E9PI95;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	V	125;125;125;149;149;149;125;125;125;124;170	ENSP00000412446:E125V;ENSP00000440172:E125V;ENSP00000344747:E125V;ENSP00000436892:E149V;ENSP00000436716:E149V;ENSP00000263317:E149V;ENSP00000434924:E125V;ENSP00000433797:E125V;ENSP00000439373:E125V;ENSP00000436970:E124V;ENSP00000405705:E170V	.	E	-	2	0	NOX4	88816952	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.647000	0.74354	1.986000	0.57962	0.460000	0.39030	GAG		0.448	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1		NM_016931	Missense_Mutation	13	125	0	0	0	0.00245	0	13	125		
NOX4	50507	broad.mit.edu	37	11	89223638	89223638	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:89223638G>C	ENST00000263317.4	-	2	379	c.141C>G	c.(139-141)caC>caG	p.H47Q	NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000343727.5_Missense_Mutation_p.H23Q|NOX4_ENST00000531342.1_Missense_Mutation_p.H47Q|NOX4_ENST00000534731.1_Missense_Mutation_p.H47Q|NOX4_ENST00000413594.2_Missense_Mutation_p.H68Q|NOX4_ENST00000525196.1_Missense_Mutation_p.H47Q|NOX4_ENST00000532825.1_Missense_Mutation_p.H23Q|NOX4_ENST00000424319.1_Missense_Mutation_p.H23Q|NOX4_ENST00000528341.1_Intron|NOX4_ENST00000535633.1_Missense_Mutation_p.H23Q|NOX4_ENST00000375979.3_Missense_Mutation_p.H47Q|NOX4_ENST00000527956.1_Missense_Mutation_p.H23Q|NOX4_ENST00000393282.2_Missense_Mutation_p.H47Q|NOX4_ENST00000542487.1_Missense_Mutation_p.H23Q			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	47					bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCAACATCTGGTGGAGGTAGT	0.438																																						uc001pct.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(139-141)CAC>CAG		NADPH oxidase 4 isoform a							135.0	130.0	132.0					11																	89223638		2201	4299	6500	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89223638G>C	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.141C>G	11.37:g.89223638G>C	ENSP00000263317:p.His47Gln					NOX4_uc009yvr.2_Intron|NOX4_uc001pcu.2_5'UTR|NOX4_uc001pcw.2_Missense_Mutation_p.H47Q|NOX4_uc001pcx.2_Missense_Mutation_p.H47Q|NOX4_uc001pcv.2_Missense_Mutation_p.H47Q|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_5'UTR|NOX4_uc009yvp.2_Missense_Mutation_p.H47Q|NOX4_uc010rtv.1_Missense_Mutation_p.H23Q|NOX4_uc009yvq.2_Missense_Mutation_p.H23Q|NOX4_uc009yvs.1_RNA|NOX4_uc001pcy.2_RNA	p.H47Q	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			2	380	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	47			Extracellular (Potential).		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.141C>G	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486795	0.44249	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000413594;ENST00000531342;ENST00000375979;ENST00000393282	D;D;D;D;D;D;D;D;D;D;D;D	0.95069	-3.53;-3.53;-3.53;-3.51;-3.53;-3.45;-3.6;-3.53;-3.53;-3.56;-2.98;-2.92	5.1	5.1	0.69264	.	0.196664	0.44097	D	0.000500	D	0.93930	0.8057	M	0.68952	2.095	0.46416	D	0.999034	P;B;B;B;B;B	0.40302	0.712;0.149;0.232;0.077;0.006;0.018	B;B;B;B;B;B	0.43809	0.432;0.036;0.079;0.079;0.016;0.018	D	0.93215	0.6603	9	.	.	.	-8.2004	14.0279	0.64597	0.0:0.0:1.0:0.0	.	23;47;47;47;47;47	E9PMY6;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;NOX4_HUMAN	Q	23;23;23;47;47;47;23;23;23;68;47;47;47	ENSP00000412446:H23Q;ENSP00000440172:H23Q;ENSP00000344747:H23Q;ENSP00000436892:H47Q;ENSP00000436716:H47Q;ENSP00000263317:H47Q;ENSP00000434924:H23Q;ENSP00000433797:H23Q;ENSP00000439373:H23Q;ENSP00000405705:H68Q;ENSP00000435039:H47Q;ENSP00000365146:H47Q	.	H	-	3	2	NOX4	88863286	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	2.601000	0.46249	2.380000	0.81148	0.313000	0.20887	CAC		0.438	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1		NM_016931		10	93	0	0	0	0.00245	0	10	93		
ARHGAP20	57569	broad.mit.edu	37	11	110451669	110451669	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:110451669C>T	ENST00000260283.4	-	16	2285	c.2001G>A	c.(1999-2001)aaG>aaA	p.K667K	ARHGAP20_ENST00000357139.3_Silent_p.K641K|ARHGAP20_ENST00000533353.1_Silent_p.K641K|ARHGAP20_ENST00000528829.1_Silent_p.K631K|ARHGAP20_ENST00000524756.1_Silent_p.K644K|ARHGAP20_ENST00000529591.1_Silent_p.K210K|ARHGAP20_ENST00000527598.1_Silent_p.K631K	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	667					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GCAGTGGGATCTTTGTGTACA	0.507																																						uc001pkz.1		NaN																	0				ovary(3)|kidney(2)	5						c.(1999-2001)AAG>AAA		Rho GTPase activating protein 20							78.0	77.0	78.0					11																	110451669		2201	4298	6499	SO:0001819	synonymous_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110451669C>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2001G>A	11.37:g.110451669C>T						ARHGAP20_uc001pky.1_Silent_p.K644K|ARHGAP20_uc009yyb.1_Silent_p.K631K|ARHGAP20_uc001pla.1_Silent_p.K631K|ARHGAP20_uc001plb.2_Silent_p.K210K	p.K667K	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	2286	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	667					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	c.2001G>A	CCDS31673.1																																																																																				0.507	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1		NM_020809		3	46	0	0	0	0.001168	0	3	46		
BTG4	54766	broad.mit.edu	37	11	111367977	111367977	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:111367977G>A	ENST00000356018.2	-	4	668	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	BTG4_ENST00000525791.1_Missense_Mutation_p.R157C	NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	157					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		GGAATGACACGAGGTTCCTTG	0.388																																						uc001plj.2		NaN																	0					0						c.(469-471)CGT>TGT		B-cell translocation gene 4							154.0	151.0	152.0					11																	111367977		2201	4297	6498	SO:0001583	missense	54766				cell cycle arrest|negative regulation of cell proliferation|neuron differentiation			g.chr11:111367977G>A	AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30		ENST00000356018.2:c.469C>T	11.37:g.111367977G>A	ENSP00000348300:p.Arg157Cys					BTG4_uc001plk.2_Missense_Mutation_p.R157C	p.R157C	NM_017589	NP_060059	Q9NY30	BTG4_HUMAN		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)	4	654	-		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	157					Q8NEH7	Missense_Mutation	SNP	ENST00000356018.2	37	c.469C>T	CCDS8346.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695954	0.30052	.	.	ENSG00000137707	ENST00000356018;ENST00000525791;ENST00000456861	.	.	.	5.46	4.55	0.56014	.	0.858543	0.10234	N	0.699288	T	0.21718	0.0523	N	0.14661	0.345	0.09310	N	1	B;D	0.67145	0.008;0.996	B;P	0.45610	0.016;0.487	T	0.05989	-1.0852	9	0.52906	T	0.07	.	7.0224	0.24922	0.0828:0.0:0.6532:0.264	.	157;157	Q8NEH7;Q9NY30	.;BTG4_HUMAN	C	157	.	ENSP00000348300:R157C	R	-	1	0	BTG4	110873187	0.013000	0.17824	0.002000	0.10522	0.113000	0.19764	1.930000	0.40124	1.313000	0.45069	0.650000	0.86243	CGT		0.388	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391177.1				5	125	0	0	0	0.001984	0	5	125		
CLDN25	644672	broad.mit.edu	37	11	113650727	113650727	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:113650727C>G	ENST00000453129.2	+	1	259	c.210C>G	c.(208-210)ttC>ttG	p.F70L		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TTGAATCCTTCTTGTCTCTGC	0.562																																						uc009yyw.1		NaN																	0					0						c.(208-210)TTC>TTG		claudin 25							93.0	104.0	100.0					11																	113650727		2193	4293	6486	SO:0001583	missense	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650727C>G		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.210C>G	11.37:g.113650727C>G	ENSP00000396304:p.Phe70Leu						p.F70L	NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN			1	210	+			70			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000453129.2	37	c.210C>G	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025849	0.54683	.	.	ENSG00000228607	ENST00000453129	D	0.87729	-2.29	4.91	3.02	0.34903	.	.	.	.	.	T	0.79257	0.4415	N	0.20357	0.565	0.31964	N	0.608046	B	0.32653	0.379	B	0.43386	0.418	T	0.71830	-0.4474	9	0.08599	T	0.76	.	7.5878	0.28004	0.0:0.6558:0.0:0.3442	.	70	C9JDP6	CLD25_HUMAN	L	70	ENSP00000396304:F70L	ENSP00000396304:F70L	F	+	3	2	CLDN25	113155937	0.007000	0.16637	0.899000	0.35326	0.826000	0.46750	-0.050000	0.11904	0.652000	0.30806	0.650000	0.86243	TTC		0.562	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1		NM_001101389		8	90	0	0	0	0.00308	0	8	90		
SIDT2	51092	broad.mit.edu	37	11	117066606	117066606	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:117066606C>A	ENST00000324225.4	+	25	2942	c.2411C>A	c.(2410-2412)tCc>tAc	p.S804Y	SIDT2_ENST00000431081.2_Missense_Mutation_p.S801Y|SIDT2_ENST00000532062.1_Missense_Mutation_p.S96Y	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	804					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTCCTCTCCTCCATCGCCATG	0.612																																						uc001pqh.1		NaN																	0					0						c.(2410-2412)TCC>TAC		SID1 transmembrane family, member 2 precursor							210.0	194.0	200.0					11																	117066606		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117066606C>A	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2411C>A	11.37:g.117066606C>A	ENSP00000314023:p.Ser804Tyr					SIDT2_uc010rxe.1_Missense_Mutation_p.S804Y|SIDT2_uc001pqg.2_Missense_Mutation_p.S825Y|SIDT2_uc001pqi.1_Missense_Mutation_p.S801Y|SIDT2_uc001pqj.1_Missense_Mutation_p.S116Y|uc001pqk.1_RNA	p.S804Y	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	25	2452	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	804			Helical; (Potential).		Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.2411C>A	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803929	0.90623	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000392956;ENST00000525478;ENST00000532062	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	4.16	4.16	0.48862	.	0.117394	0.64402	D	0.000018	T	0.49609	0.1567	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.76494	0.971;0.999;0.999;0.977	P;D;D;D	0.76575	0.894;0.988;0.986;0.936	T	0.55366	-0.8152	10	0.87932	D	0	-33.0471	16.6056	0.84827	0.0:1.0:0.0:0.0	.	825;801;804;825	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	Y	804;825;801;158;105;96	ENSP00000314023:S804Y;ENSP00000278951:S825Y;ENSP00000399635:S801Y;ENSP00000435890:S105Y;ENSP00000432432:S96Y	ENSP00000278951:S825Y	S	+	2	0	SIDT2	116571816	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.517000	0.81783	2.322000	0.78497	0.563000	0.77884	TCC		0.612	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1		NM_015996		17	236	1	0	8.34094e-07	0.008871	8.96875e-07	17	236		
USP2	9099	broad.mit.edu	37	11	119228516	119228516	+	Silent	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:119228516C>A	ENST00000260187.2	-	10	1746	c.1452G>T	c.(1450-1452)cgG>cgT	p.R484R	USP2_ENST00000525735.1_Silent_p.R275R|USP2_ENST00000455332.2_Silent_p.R241R	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	484	Necessary for interaction with MDM4.|USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCTTTATACACCGTTTTCTGC	0.498																																						uc001pwm.3		NaN																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(1450-1452)CGG>CGT		ubiquitin specific peptidase 2 isoform a							279.0	299.0	292.0					11																	119228516		2199	4295	6494	SO:0001819	synonymous_variant	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119228516C>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1452G>T	11.37:g.119228516C>A						USP2_uc001pwl.3_Silent_p.R275R|USP2_uc001pwn.3_Silent_p.R241R	p.R484R	NM_004205	NP_004196	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	10	1747	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	484			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Silent	SNP	ENST00000260187.2	37	c.1452G>T	CCDS8422.1																																																																																				0.498	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2		NM_171997		30	309	1	0	3.11337e-16	0.013726	3.43387e-16	30	309		
ARHGEF12	23365	broad.mit.edu	37	11	120298895	120298895	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:120298895C>G	ENST00000397843.2	+	8	690	c.524C>G	c.(523-525)tCt>tGt	p.S175C	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.S156C|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.S72C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	175					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|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)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATCATGACATCTCCTCATTCA	0.498			T	MLL	AML																																	uc001pxl.1		NaN		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(523-525)TCT>TGT		Rho guanine nucleotide exchange factor (GEF) 12							140.0	133.0	135.0					11																	120298895		1912	4117	6029	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120298895C>G	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.524C>G	11.37:g.120298895C>G	ENSP00000380942:p.Ser175Cys					ARHGEF12_uc009zat.2_Missense_Mutation_p.S156C|ARHGEF12_uc010rzn.1_Missense_Mutation_p.S72C|ARHGEF12_uc009zau.1_Missense_Mutation_p.S72C	p.S175C	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	8	531	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	175					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.524C>G	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419331	0.83559	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.51817	0.69;0.69;0.69	5.68	4.76	0.60689	.	0.162257	0.29396	N	0.012271	T	0.57125	0.2032	L	0.50333	1.59	0.40672	D	0.98222	D;D;D	0.65815	0.992;0.995;0.991	P;P;P	0.58013	0.789;0.831;0.682	T	0.58640	-0.7601	10	0.52906	T	0.07	-8.4648	14.0568	0.64774	0.0:0.9279:0.0:0.0721	.	72;156;175	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	C	175;156;72	ENSP00000380942:S175C;ENSP00000349056:S156C;ENSP00000432984:S72C	ENSP00000349056:S156C	S	+	2	0	ARHGEF12	119804105	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.960000	0.63673	2.673000	0.90976	0.655000	0.94253	TCT		0.498	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1		NM_015313		16	156	0	0	0	0.014323	0	16	156		
UBASH3B	84959	broad.mit.edu	37	11	122647792	122647792	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr11:122647792C>T	ENST00000284273.5	+	3	651	c.276C>T	c.(274-276)ctC>ctT	p.L92L		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	92					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGTACGTCCTCTACCTCCGTC	0.562																																						uc001pyi.3		NaN																	0				central_nervous_system(1)	1						c.(274-276)CTC>CTT		ubiquitin associated and SH3 domain containing,							87.0	75.0	79.0					11																	122647792		2202	4299	6501	SO:0001819	synonymous_variant	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122647792C>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.276C>T	11.37:g.122647792C>T							p.L92L	NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	3	636	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	92					Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	ENST00000284273.5	37	c.276C>T	CCDS31694.1																																																																																				0.562	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1		NM_032873		8	65	0	0	0	0.00308	0	8	65		
IQSEC3	440073	broad.mit.edu	37	12	275008	275008	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:275008A>G	ENST00000538872.1	+	11	3041	c.2923A>G	c.(2923-2925)Aag>Gag	p.K975E	RP11-598F7.5_ENST00000540136.1_RNA|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.K672E|IQSEC3_ENST00000326261.4_Missense_Mutation_p.K975E			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	975	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGAGGACCTGAAGGAGTCCAT	0.602																																						uc001qhw.1		NaN																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(2014-2016)AAG>GAG		IQ motif and Sec7 domain 3							80.0	76.0	77.0					12																	275008		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:275008A>G	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2923A>G	12.37:g.275008A>G	ENSP00000437554:p.Lys975Glu					IQSEC3_uc001qhu.1_Missense_Mutation_p.K672E	p.K672E	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	8	2020	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		975			Potential.|PH.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.2014A>G	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	A	35	5.484428	0.96323	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.40756	1.02;1.02;1.02	5.39	5.39	0.77823	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.141948	0.64402	N	0.000008	T	0.57198	0.2037	M	0.71581	2.175	0.80722	D	1	B;P	0.44690	0.196;0.841	B;P	0.52217	0.137;0.693	T	0.62153	-0.6914	10	0.87932	D	0	.	15.7145	0.77658	1.0:0.0:0.0:0.0	.	975;672	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	E	975;975;672	ENSP00000437554:K975E;ENSP00000315662:K975E;ENSP00000372292:K672E	ENSP00000315662:K975E	K	+	1	0	IQSEC3	145269	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.312000	0.78968	2.168000	0.68352	0.528000	0.53228	AAG		0.602	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3		XM_495902		11	36	0	0	0	0.00245	0	11	36		
WNK1	65125	broad.mit.edu	37	12	989996	989996	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:989996C>T	ENST00000315939.6	+	12	3585	c.2942C>T	c.(2941-2943)cCg>cTg	p.P981L	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Missense_Mutation_p.P1241L|WNK1_ENST00000340908.4_Missense_Mutation_p.P574L|WNK1_ENST00000530271.2_Missense_Mutation_p.P1479L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	981					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTCCCATGCCGACAGAAGTA	0.502																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NaN																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(2941-2943)CCG>CTG		WNK lysine deficient protein kinase 1							262.0	257.0	259.0					12																	989996		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:989996C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2942C>T	12.37:g.989996C>T	ENSP00000313059:p.Pro981Leu					WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	p.P981L	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		12	3449	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		981					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.2942C>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039911	0.55003	.	.	ENSG00000060237	ENST00000315939;ENST00000537687;ENST00000530271;ENST00000340908	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.6	5.6	0.85130	.	0.090297	0.49305	D	0.000160	T	0.46600	0.1401	L	0.32530	0.975	0.54753	D	0.999987	D	0.58268	0.982	B	0.42087	0.375	T	0.52525	-0.8564	10	0.72032	D	0.01	-6.442	18.1622	0.89712	0.0:1.0:0.0:0.0	.	981	Q9H4A3	WNK1_HUMAN	L	981;1241;1479;574	ENSP00000313059:P981L;ENSP00000444465:P1241L;ENSP00000433548:P1479L;ENSP00000341292:P574L	ENSP00000313059:P981L	P	+	2	0	WNK1	860257	0.992000	0.36948	0.979000	0.43373	0.943000	0.58893	3.222000	0.51223	2.798000	0.96311	0.650000	0.86243	CCG		0.502	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1		NM_018979		5	321	0	0	0	0.001168	0	5	321		
SCNN1A	6337	broad.mit.edu	37	12	6458367	6458367	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:6458367G>A	ENST00000228916.2	-	10	1558	c.1460C>T	c.(1459-1461)tCt>tTt	p.S487F	SCNN1A_ENST00000543768.1_Missense_Mutation_p.S510F|SCNN1A_ENST00000358945.3_Missense_Mutation_p.S509F|SCNN1A_ENST00000540037.1_Missense_Mutation_p.S187F|SCNN1A_ENST00000396966.2_Intron|SCNN1A_ENST00000360168.3_Missense_Mutation_p.S546F	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	487					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GTAACCAGCAGAGAGCTGGTA	0.572																																						uc001qnx.2		NaN																	0					0						c.(1459-1461)TCT>TTT		sodium channel, nonvoltage-gated 1 alpha isoform	Amiloride(DB00594)|Triamterene(DB00384)						129.0	127.0	128.0					12																	6458367		2203	4300	6503	SO:0001583	missense	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6458367G>A	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1460C>T	12.37:g.6458367G>A	ENSP00000228916:p.Ser487Phe					SCNN1A_uc001qnv.2_Missense_Mutation_p.S187F|SCNN1A_uc001qnw.2_Missense_Mutation_p.S546F|SCNN1A_uc010sfb.1_Missense_Mutation_p.S510F	p.S487F	NM_001038	NP_001029	P37088	SCNNA_HUMAN			10	1749	-			487			Extracellular (By similarity).		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.1460C>T	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.326263	0.81580	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.19	5.19	0.71726	.	0.178445	0.39985	N	0.001208	T	0.81250	0.4783	M	0.87269	2.87	0.44485	D	0.997427	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.995;0.996	D	0.84571	0.0655	10	0.87932	D	0	-13.6502	14.3102	0.66410	0.0:0.0:1.0:0.0	.	510;487;546	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	F	546;509;187;487;510	ENSP00000353292:S546F;ENSP00000351825:S509F;ENSP00000440876:S187F;ENSP00000228916:S487F;ENSP00000438739:S510F	ENSP00000228916:S487F	S	-	2	0	SCNN1A	6328628	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	5.919000	0.70005	2.450000	0.82876	0.639000	0.83563	TCT		0.572	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1				15	164	0	0	0	0.00499	0	15	164		
ATN1	1822	broad.mit.edu	37	12	7044738	7044738	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:7044738C>G	ENST00000356654.4	+	5	545	c.308C>G	c.(307-309)tCc>tGc	p.S103C	ATN1_ENST00000396684.2_Missense_Mutation_p.S103C	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	103					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CAGTCTCCCTCCGATCTGGAT	0.532																																						uc001qrw.1		NaN																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(307-309)TCC>TGC		atrophin-1							102.0	86.0	91.0					12																	7044738		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7044738C>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.308C>G	12.37:g.7044738C>G	ENSP00000349076:p.Ser103Cys					ATN1_uc001qrx.1_Missense_Mutation_p.S103C|ATN1_uc001qry.1_Missense_Mutation_p.S102C	p.S103C	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			5	545	+			103					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.308C>G	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546162	0.65198	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.49720	0.77;0.77;0.77	3.95	3.95	0.45737	.	0.000000	0.30940	U	0.008564	T	0.58090	0.2098	L	0.32530	0.975	0.52099	D	0.999944	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.983	T	0.62941	-0.6747	10	0.59425	D	0.04	.	16.5623	0.84569	0.0:1.0:0.0:0.0	.	103;103	Q86V38;P54259	.;ATN1_HUMAN	C	103	ENSP00000349076:S103C;ENSP00000379915:S103C;ENSP00000441744:S103C	ENSP00000349076:S103C	S	+	2	0	ATN1	6914999	1.000000	0.71417	0.973000	0.42090	0.789000	0.44602	6.933000	0.75874	2.199000	0.70637	0.460000	0.39030	TCC		0.532	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2		NM_001940		10	30	0	0	0	0.008291	0	10	30		
RECQL	5965	broad.mit.edu	37	12	21624538	21624538	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:21624538G>A	ENST00000444129.2	-	13	1959	c.1491C>T	c.(1489-1491)atC>atT	p.I497I	RECQL_ENST00000421138.2_Silent_p.I497I	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	497					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TCAGGATCTTGATTAGATCTC	0.383								Other identified genes with known or suspected DNA repair function																														uc001rex.2		NaN																	0				ovary(1)|lung(1)	2						c.(1489-1491)ATC>ATT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like							121.0	117.0	118.0					12																	21624538		2203	4300	6503	SO:0001819	synonymous_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21624538G>A	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1491C>T	12.37:g.21624538G>A						RECQL_uc001rey.2_Silent_p.I497I	p.I497I	NM_032941	NP_116559	P46063	RECQ1_HUMAN			14	1839	-			497					A8K6G2	Silent	SNP	ENST00000444129.2	37	c.1491C>T	CCDS31756.1																																																																																				0.383	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1		NM_002907		5	89	0	0	0	0.001984	0	5	89		
ABCC9	10060	broad.mit.edu	37	12	21995253	21995253	+	Silent	SNP	G	G	A	rs201572736		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:21995253G>A	ENST00000261201.4	-	27	3467	c.3468C>T	c.(3466-3468)gcC>gcT	p.A1156A	ABCC9_ENST00000345162.2_Silent_p.A1120A|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Silent_p.A1156A	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1156	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTTACTTAGAGGCAACCCGAA	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		19020	0.0		0.001	False		,,,				2504	0.0					uc001rfi.1		NaN																	0				ovary(4)|skin(2)	6						c.(3466-3468)GCC>GCT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						76.0	70.0	72.0					12																	21995253		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21995253G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3468C>T	12.37:g.21995253G>A						ABCC9_uc001rfh.2_Silent_p.A1156A|ABCC9_uc001rfj.1_Silent_p.A1120A	p.A1156A	NM_005691	NP_005682	O60706	ABCC9_HUMAN			27	3488	-			1156			Extracellular (Potential).|ABC transmembrane type-1 2.		O60707	Silent	SNP	ENST00000261201.4	37	c.3468C>T	CCDS8694.1																																																																																				0.418	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691		10	25	0	0	0	0.013537	0	10	25		
C2CD5	9847	broad.mit.edu	37	12	22627716	22627716	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:22627716G>C	ENST00000333957.4	-	16	2267	c.2012C>G	c.(2011-2013)tCa>tGa	p.S671*	C2CD5_ENST00000536386.1_Nonsense_Mutation_p.S673*|C2CD5_ENST00000542676.1_Nonsense_Mutation_p.S671*|C2CD5_ENST00000446597.1_Nonsense_Mutation_p.S671*|C2CD5_ENST00000545552.1_Nonsense_Mutation_p.S684*|C2CD5_ENST00000396028.2_Nonsense_Mutation_p.S662*|C2CD5_ENST00000544930.1_Nonsense_Mutation_p.S486*	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	671					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TTTCCCATGTGAAAGGTCTAA	0.383																																						uc001rfq.2		NaN																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(2011-2013)TCA>TGA		hypothetical protein LOC9847							110.0	104.0	106.0					12																	22627716		2203	4300	6503	SO:0001587	stop_gained	9847						protein binding	g.chr12:22627716G>C	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2012C>G	12.37:g.22627716G>C	ENSP00000334229:p.Ser671*					KIAA0528_uc010sir.1_Nonsense_Mutation_p.S486*|KIAA0528_uc010sis.1_Nonsense_Mutation_p.S671*|KIAA0528_uc010sit.1_Nonsense_Mutation_p.S673*|KIAA0528_uc010siu.1_Nonsense_Mutation_p.S671*|KIAA0528_uc001rfr.2_Nonsense_Mutation_p.S662*	p.S671*	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			16	2240	-			671					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Nonsense_Mutation	SNP	ENST00000333957.4	37	c.2012C>G	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	G	41	9.023804	0.99040	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	.	.	.	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-17.4722	16.9375	0.86207	0.0:0.0:1.0:0.0	.	.	.	.	X	671;671;673;662;671;684;486	.	ENSP00000334229:S671X	S	-	2	0	KIAA0528	22518983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.977000	0.93446	2.433000	0.82419	0.650000	0.86243	TCA		0.383	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1		NM_014802		9	98	0	0	0	0.010729	0	9	98		
TMTC1	83857	broad.mit.edu	37	12	29736357	29736357	+	Silent	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:29736357T>A	ENST00000539277.1	-	8	1459	c.1401A>T	c.(1399-1401)tcA>tcT	p.S467S	TMTC1_ENST00000551659.1_Silent_p.S529S|TMTC1_ENST00000552618.1_Silent_p.S529S|TMTC1_ENST00000256062.5_Silent_p.S359S|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Silent_p.S421S	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	467						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)					GGGACTCTCTTGACAGCCAAA	0.398																																						uc001rjb.2		NaN																	0					0						c.(1075-1077)TCA>TCT		transmembrane and tetratricopeptide repeat							60.0	58.0	59.0					12																	29736357		2203	4300	6503	SO:0001819	synonymous_variant	83857					integral to membrane	binding	g.chr12:29736357T>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.1401A>T	12.37:g.29736357T>A						TMTC1_uc001riz.2_Silent_p.S116S|TMTC1_uc001rja.2_Silent_p.S203S|TMTC1_uc001rjc.1_Silent_p.S421S	p.S359S	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			8	1551	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		467					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	c.1077A>T	CCDS53772.1																																																																																				0.398	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1		NM_031920		4	55	0	0	0	0.001168	0	4	55		
PKP2	5318	broad.mit.edu	37	12	32974300	32974300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:32974300C>T	ENST00000070846.6	-	10	2159	c.2135G>A	c.(2134-2136)gGa>gAa	p.G712E	PKP2_ENST00000340811.4_Missense_Mutation_p.G668E	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	712					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGTCCACTTCCGGCCGTGAG	0.423																																						uc001rlj.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(2134-2136)GGA>GAA		plakophilin 2 isoform 2b							77.0	68.0	71.0					12																	32974300		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32974300C>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.2135G>A	12.37:g.32974300C>T	ENSP00000070846:p.Gly712Glu					PKP2_uc001rlk.3_Missense_Mutation_p.G668E|PKP2_uc010skj.1_Missense_Mutation_p.G665E	p.G712E	NM_004572	NP_004563	Q99959	PKP2_HUMAN			10	2250	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		712					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.2135G>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398810	0.62177	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.48836	0.8;0.8	4.99	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.059282	0.64402	D	0.000002	T	0.72309	0.3444	M	0.84948	2.725	0.50813	D	0.99989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.994	T	0.77816	-0.2447	10	0.72032	D	0.01	-7.9393	16.4657	0.84078	0.0:1.0:0.0:0.0	.	668;668;712	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	E	668;712;712	ENSP00000342800:G668E;ENSP00000070846:G712E	ENSP00000070846:G712E	G	-	2	0	PKP2	32865567	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.636000	0.74299	2.309000	0.77851	0.563000	0.77884	GGA		0.423	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1		NM_004572		7	40	0	0	0	0.004482	0	7	40		
TMEM106C	79022	broad.mit.edu	37	12	48361983	48361983	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:48361983G>T	ENST00000429772.2	+	8	837	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	TMEM106C_ENST00000256686.6_Missense_Mutation_p.D223Y|TMEM106C_ENST00000552546.1_Missense_Mutation_p.D171Y|TMEM106C_ENST00000552561.1_Missense_Mutation_p.D242Y|TMEM106C_ENST00000449758.2_Missense_Mutation_p.D223Y|TMEM106C_ENST00000550552.1_Missense_Mutation_p.D223Y|TMEM106C_ENST00000549288.1_3'UTR	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	242						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TCACTATGTGGATTGTGGAGG	0.428																																						uc001rqp.2		NaN																	0					0						c.(724-726)GAT>TAT		transmembrane protein 106C isoform a							125.0	111.0	116.0					12																	48361983		2203	4300	6503	SO:0001583	missense	79022					endoplasmic reticulum membrane|integral to membrane		g.chr12:48361983G>T	BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.724G>T	12.37:g.48361983G>T	ENSP00000400471:p.Asp242Tyr					TMEM106C_uc001rqo.2_Missense_Mutation_p.D223Y|TMEM106C_uc001rqr.2_Missense_Mutation_p.D242Y|TMEM106C_uc001rqq.2_Missense_Mutation_p.D223Y	p.D242Y	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN		GBM - Glioblastoma multiforme(48;0.241)	8	839	+		Acute lymphoblastic leukemia(13;0.11)	242					B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	ENST00000429772.2	37	c.724G>T	CCDS8758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.502829|4.502829	0.85176|0.85176	.|.	.|.	ENSG00000134291|ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758|ENST00000548965	T;T;T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35;1.35;1.35|.	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75184|0.75184	0.3815|0.3815	M|M	0.74467|0.74467	2.265|2.265	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.75216|0.75216	-0.3396|-0.3396	10|5	0.52906|.	T|.	0.07|.	-22.803|-22.803	16.9112|16.9112	0.86140|0.86140	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	242;223|.	Q9BVX2;Q9BVX2-2|.	T106C_HUMAN;.|.	Y|C	223;242;171;223;242;223|105	ENSP00000256686:D223Y;ENSP00000446657:D242Y;ENSP00000448268:D171Y;ENSP00000449737:D223Y;ENSP00000400471:D242Y;ENSP00000402705:D223Y|.	ENSP00000256686:D223Y|.	D|W	+|+	1|3	0|0	TMEM106C|TMEM106C	46648250|46648250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.125000|6.125000	0.71627|0.71627	2.767000|2.767000	0.95098|0.95098	0.563000|0.563000	0.77884|0.77884	GAT|TGG		0.428	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1		NM_024056		10	70	1	0	4.36969e-10	0.001855	4.76694e-10	10	70		
ADCY6	112	broad.mit.edu	37	12	49177157	49177157	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:49177157C>T	ENST00000307885.4	-	1	755	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	ADCY6_ENST00000357869.3_Missense_Mutation_p.E21K|ADCY6_ENST00000550422.1_Missense_Mutation_p.E21K	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	21					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)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|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)|negative regulation of neuron projection development (GO:0010977)|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)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CCATTGCGTTCACCCCAGGCT	0.582																																						uc001rsh.3		NaN																	0					0						c.(61-63)GAA>AAA		adenylate cyclase 6 isoform a							71.0	64.0	66.0					12																	49177157		2203	4300	6503	SO:0001583	missense	112				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	ATP binding|metal ion binding	g.chr12:49177157C>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.61G>A	12.37:g.49177157C>T	ENSP00000311405:p.Glu21Lys					ADCY6_uc001rsj.3_Missense_Mutation_p.E21K|ADCY6_uc001rsi.3_Missense_Mutation_p.E21K	p.E21K	NM_015270	NP_056085	O43306	ADCY6_HUMAN			1	721	-			21			Cytoplasmic (Potential).		Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.61G>A	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602925	0.87157	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.83419	-1.7;-1.7;-1.72	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.88844	0.6547	M	0.72894	2.215	0.80722	D	1	D;D	0.58268	0.982;0.97	P;P	0.58013	0.831;0.681	D	0.90099	0.4183	10	0.72032	D	0.01	.	17.015	0.86416	0.0:1.0:0.0:0.0	.	21;21	O43306-2;O43306	.;ADCY6_HUMAN	K	21	ENSP00000350536:E21K;ENSP00000446730:E21K;ENSP00000311405:E21K	ENSP00000311405:E21K	E	-	1	0	ADCY6	47463424	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	5.413000	0.66399	2.549000	0.85964	0.561000	0.74099	GAA		0.582	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1		NM_020983		6	36	0	0	0	0.001168	0	6	36		
KMT2D	8085	broad.mit.edu	37	12	49444684	49444684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:49444684G>A	ENST00000301067.7	-	10	2781	c.2782C>T	c.(2782-2784)Cag>Tag	p.Q928*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	928	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGCATCAGCTGAGGCGACAAG	0.547																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(2782-2784)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							70.0	74.0	73.0					12																	49444684		2048	4186	6234	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49444684G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2782C>T	12.37:g.49444684G>A	ENSP00000301067:p.Gln928*	HNSCC(34;0.089)					p.Q928*	NM_003482	NP_003473	O14686	MLL2_HUMAN			10	2782	-			928	Missing (in Ref. 1; AAC51734).		Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.2782C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	39	7.579194	0.98371	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.619	0.68572	0.0:0.0:1.0:0.0	.	.	.	.	X	928	.	ENSP00000301067:Q928X	Q	-	1	0	MLL2	47730951	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.422000	0.34826	2.228000	0.72767	0.563000	0.77884	CAG		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				12	71	0	0	0	0.004007	0	12	71		
TFCP2	7024	broad.mit.edu	37	12	51512521	51512521	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:51512521C>T	ENST00000257915.5	-	2	615	c.157G>A	c.(157-159)Gag>Aag	p.E53K	TFCP2_ENST00000549867.1_Missense_Mutation_p.E53K|TFCP2_ENST00000307660.4_Missense_Mutation_p.E53K|TFCP2_ENST00000548115.1_Missense_Mutation_p.E53K	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	53					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AAACTCGACTCTTCTTGCTTA	0.398																																						uc001rxw.2		NaN																	0				ovary(1)	1						c.(157-159)GAG>AAG		transcription factor CP2							167.0	162.0	164.0					12																	51512521		2203	4300	6503	SO:0001583	missense	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51512521C>T	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.157G>A	12.37:g.51512521C>T	ENSP00000257915:p.Glu53Lys					TFCP2_uc001rxv.1_Missense_Mutation_p.E53K|TFCP2_uc009zlx.1_Missense_Mutation_p.E53K|TFCP2_uc001rxx.2_Missense_Mutation_p.E53K|TFCP2_uc009zly.1_5'UTR	p.E53K	NM_005653	NP_005644	Q12800	TFCP2_HUMAN			2	616	-			53					A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	c.157G>A	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	32	5.123870	0.94429	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115	T;T;T;T	0.46063	2.19;0.88;2.2;0.89	5.66	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	L	0.45137	1.4	0.58432	D	0.999992	D;B;D;B	0.89917	0.996;0.081;1.0;0.039	D;B;D;B	0.97110	0.987;0.083;1.0;0.105	T	0.57118	-0.7866	10	0.52906	T	0.07	-21.2047	13.8545	0.63517	0.0:0.9252:0.0:0.0748	.	53;53;53;53	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	K	53	ENSP00000257915:E53K;ENSP00000304411:E53K;ENSP00000449742:E53K;ENSP00000447991:E53K	ENSP00000257915:E53K	E	-	1	0	TFCP2	49798788	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.731000	0.84895	1.546000	0.49388	-0.229000	0.12294	GAG		0.398	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1		NM_005653		6	115	0	0	0	0.001168	0	6	115		
MFSD5	84975	broad.mit.edu	37	12	53647579	53647579	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:53647579C>T	ENST00000329548.4	+	2	1151	c.960C>T	c.(958-960)ctC>ctT	p.L320L	MFSD5_ENST00000534842.1_Silent_p.L427L	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	320					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TTGCTGTGCTCATCGTCGTCT	0.547																																						uc001sci.1		NaN																	0				skin(2)|ovary(1)	3						c.(958-960)CTC>CTT		major facilitator superfamily domain containing							141.0	118.0	126.0					12																	53647579		2203	4300	6503	SO:0001819	synonymous_variant	84975				transport	integral to membrane		g.chr12:53647579C>T	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.960C>T	12.37:g.53647579C>T						MFSD5_uc001sch.1_Silent_p.L427L	p.L320L	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN			2	1151	+			320			Helical; (Potential).		G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Silent	SNP	ENST00000329548.4	37	c.960C>T	CCDS8851.1																																																																																				0.547	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1		NM_032889		6	75	0	0	0	0.001984	0	6	75		
HOXC4	3221	broad.mit.edu	37	12	54447857	54447857	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:54447857G>A	ENST00000430889.2	+	1	197	c.151G>A	c.(151-153)Gag>Aag	p.E51K	HOXC4_ENST00000609810.1_Missense_Mutation_p.E51K|HOXC4_ENST00000303406.4_Missense_Mutation_p.E51K	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	51					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TCACCACCAGGAGCTGTACCC	0.607																																						uc001seu.2		NaN																	0				ovary(1)	1						c.(151-153)GAG>AAG		homeobox C4							114.0	124.0	121.0					12																	54447857		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54447857G>A		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.151G>A	12.37:g.54447857G>A	ENSP00000399808:p.Glu51Lys					HOXC4_uc001sex.2_Missense_Mutation_p.E51K	p.E51K	NM_014620	NP_055435	P09017	HXC4_HUMAN			3	831	+			51						Missense_Mutation	SNP	ENST00000430889.2	37	c.151G>A	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892950	0.33442	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.82619	-1.63;-1.63	3.95	3.95	0.45737	.	0.209201	0.38778	N	0.001569	T	0.79040	0.4379	M	0.78637	2.42	0.58432	D	0.999996	B	0.33694	0.421	B	0.24701	0.055	T	0.76979	-0.2758	10	0.08599	T	0.76	.	15.2809	0.73784	0.0:0.0:1.0:0.0	.	51	P09017	HXC4_HUMAN	K	51	ENSP00000305973:E51K;ENSP00000399808:E51K	ENSP00000305973:E51K	E	+	1	0	HOXC4	52734124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.214000	0.95140	2.187000	0.69744	0.462000	0.41574	GAG		0.607	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1				16	213	0	0	0	0.00499	0	16	213		
OR6C76	390326	broad.mit.edu	37	12	55820661	55820661	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:55820661G>C	ENST00000328314.3	+	1	624	c.624G>C	c.(622-624)ttG>ttC	p.L208F		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATCCACTTTGATATTAGTAA	0.398																																						uc010spm.1		NaN																	0					0						c.(622-624)TTG>TTC		olfactory receptor, family 6, subfamily C,							94.0	86.0	89.0					12																	55820661		2203	4299	6502	SO:0001583	missense	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820661G>C		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.624G>C	12.37:g.55820661G>C	ENSP00000328402:p.Leu208Phe						p.L208F	NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN			1	624	+			208			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000328314.3	37	c.624G>C	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	g	6.326	0.428272	0.11987	.	.	ENSG00000185821	ENST00000328314	T	0.40476	1.03	4.02	-1.78	0.07957	GPCR, rhodopsin-like superfamily (1);	0.306260	0.17406	U	0.175375	T	0.30230	0.0758	L	0.27053	0.805	0.09310	N	1	P	0.43909	0.821	P	0.49252	0.604	T	0.17319	-1.0373	10	0.72032	D	0.01	.	2.2476	0.04035	0.1564:0.1118:0.3656:0.3662	.	208	A6NM76	O6C76_HUMAN	F	208	ENSP00000328402:L208F	ENSP00000328402:L208F	L	+	3	2	OR6C76	54106928	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-2.286000	0.01152	-0.194000	0.10399	-0.319000	0.08680	TTG		0.398	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1		NM_001005183		5	25	0	0	0	0.000602	0	5	25		
DNAJC14	85406	broad.mit.edu	37	12	56215782	56215782	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:56215782C>G	ENST00000357606.3	-	8	2377	c.2088G>C	c.(2086-2088)gtG>gtC	p.V696V	DNAJC14_ENST00000317287.5_Silent_p.V696V|RP11-762I7.5_ENST00000552719.1_Intron|RP11-762I7.5_ENST00000546837.1_Intron|DNAJC14_ENST00000317269.3_Silent_p.V696V			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	696					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGGGCCTCCTCACTTTCTTCC	0.542																																						uc001shx.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(2086-2088)GTG>GTC		dopamine receptor interacting protein							153.0	142.0	146.0					12																	56215782		2203	4300	6503	SO:0001819	synonymous_variant	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56215782C>G	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.2088G>C	12.37:g.56215782C>G						DNAJC14_uc001shu.1_Intron|DNAJC14_uc009zob.1_Silent_p.V696V	p.V696V	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			7	2292	-			696					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Silent	SNP	ENST00000357606.3	37	c.2088G>C	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	C	5.994	0.367341	0.11352	.	.	ENSG00000135392	ENST00000540330	.	.	.	5.63	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.8212	14.6296	0.68647	0.0:0.8532:0.1468:0.0	.	.	.	.	S	192	.	.	X	-	2	2	DNAJC14	54502049	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	1.295000	0.33377	1.508000	0.48769	0.585000	0.79938	TGA		0.542	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1		NM_032364		14	128	0	0	0	0.007413	0	14	128		
TIMELESS	8914	broad.mit.edu	37	12	56822054	56822054	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:56822054C>T	ENST00000553532.1	-	13	1694	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	TIMELESS_ENST00000229201.4_Missense_Mutation_p.R514Q|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCGACAGAATCGCTCCAACAT	0.542																																						uc001slf.2		NaN																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(1543-1545)CGA>CAA		timeless homolog							57.0	54.0	55.0					12																	56822054		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56822054C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1544G>A	12.37:g.56822054C>T	ENSP00000450607:p.Arg515Gln					TIMELESS_uc001slg.2_Missense_Mutation_p.R514Q	p.R515Q	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			13	1712	-			515						Missense_Mutation	SNP	ENST00000553532.1	37	c.1544G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020225	0.75275	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.08282	3.11;3.13	5.27	4.36	0.52297	.	0.149224	0.44688	D	0.000428	T	0.08133	0.0203	L	0.47716	1.5	0.80722	D	1	D;P	0.53312	0.959;0.931	B;B	0.42916	0.402;0.227	T	0.21008	-1.0258	10	0.21014	T	0.42	-17.0564	8.9915	0.36026	0.0:0.8335:0.0:0.1665	.	514;515	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	Q	514;515	ENSP00000229201:R514Q;ENSP00000450607:R515Q	ENSP00000229201:R515Q	R	-	2	0	TIMELESS	55108321	0.996000	0.38824	0.996000	0.52242	0.975000	0.68041	3.198000	0.51035	2.636000	0.89361	0.563000	0.77884	CGA		0.542	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1		NM_003920		13	58	0	0	0	0.007413	0	13	58		
TIMELESS	8914	broad.mit.edu	37	12	56822689	56822689	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:56822689C>T	ENST00000553532.1	-	11	1432	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	TIMELESS_ENST00000229201.4_Missense_Mutation_p.E427K|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GAGGCAGCTTCCTTGCGGTCA	0.532																																						uc001slf.2		NaN																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(1282-1284)GAA>AAA		timeless homolog							108.0	94.0	99.0					12																	56822689		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56822689C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1282G>A	12.37:g.56822689C>T	ENSP00000450607:p.Glu428Lys					TIMELESS_uc001slg.2_Missense_Mutation_p.E427K	p.E428K	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			11	1450	-			428						Missense_Mutation	SNP	ENST00000553532.1	37	c.1282G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042547	0.93685	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.07800	3.17;3.16	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	L	0.31664	0.95	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.61003	0.882;0.765	T	0.01679	-1.1297	10	0.35671	T	0.21	-17.2821	18.1059	0.89520	0.0:1.0:0.0:0.0	.	427;428	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	K	427;428	ENSP00000229201:E427K;ENSP00000450607:E428K	ENSP00000229201:E428K	E	-	1	0	TIMELESS	55108956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.769000	0.68865	2.641000	0.89580	0.561000	0.74099	GAA		0.532	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1		NM_003920		12	38	0	0	0	0.00499	0	12	38		
ZFC3H1	196441	broad.mit.edu	37	12	72022749	72022749	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:72022749C>G	ENST00000378743.3	-	20	4253	c.3895G>C	c.(3895-3897)Gat>Cat	p.D1299H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1299					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAGCTATTATCTGAAATAGGT	0.328																																						uc001swo.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(3895-3897)GAT>CAT		proline/serine-rich coiled-coil 2							144.0	131.0	135.0					12																	72022749		1818	4082	5900	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72022749C>G	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.3895G>C	12.37:g.72022749C>G	ENSP00000368017:p.Asp1299His						p.D1299H	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			20	4254	-			1299					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.3895G>C	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732047	0.69189	.	.	ENSG00000133858	ENST00000378743	T	0.32753	1.44	5.34	5.34	0.76211	.	0.273219	0.35262	N	0.003337	T	0.24314	0.0589	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.02610	-1.1134	10	0.51188	T	0.08	.	16.584	0.84723	0.0:1.0:0.0:0.0	.	1299	O60293	ZC3H1_HUMAN	H	1299	ENSP00000368017:D1299H	ENSP00000368017:D1299H	D	-	1	0	ZFC3H1	70309016	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.438000	0.52871	2.767000	0.95098	0.591000	0.81541	GAT		0.328	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1		NM_144982		3	42	0	0	0	0.004672	0	3	42		
ZFC3H1	196441	broad.mit.edu	37	12	72057344	72057344	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:72057344G>A	ENST00000378743.3	-	1	405	c.47C>T	c.(46-48)cCg>cTg	p.P16L	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.P16L|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.P16L|THAP2_ENST00000547843.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	16					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCTTCCTTCGGCGAGAGGCC	0.652											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001swo.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(46-48)CCG>CTG		proline/serine-rich coiled-coil 2							83.0	96.0	92.0					12																	72057344		2018	4194	6212	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057344G>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.47C>T	12.37:g.72057344G>A	ENSP00000368017:p.Pro16Leu		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_uc010sts.1_Missense_Mutation_p.P16L|ZFC3H1_uc001swp.2_Missense_Mutation_p.P16L|THAP2_uc001swq.2_5'Flank	p.P16L	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			1	406	-			16					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.47C>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766474	0.69878	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.55413	0.52	5.67	4.78	0.61160	.	0.084915	0.44902	D	0.000403	T	0.34542	0.0901	N	0.19112	0.55	0.80722	D	1	P;P;B	0.50272	0.933;0.933;0.014	B;B;B	0.36922	0.236;0.236;0.003	T	0.38735	-0.9647	10	0.87932	D	0	.	12.3529	0.55159	0.0776:0.0:0.9224:0.0	.	16;16;16	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	L	16	ENSP00000368017:P16L	ENSP00000368017:P16L	P	-	2	0	ZFC3H1	70343611	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.170000	0.64990	2.678000	0.91216	0.563000	0.77884	CCG		0.652	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1		NM_144982		13	181	0	0	0	0.006122	0	13	181		
TMTC2	160335	broad.mit.edu	37	12	83455601	83455601	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:83455601G>A	ENST00000321196.3	+	11	3029	c.2322G>A	c.(2320-2322)ctG>ctA	p.L774L	TMTC2_ENST00000549919.1_Silent_p.L768L	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	774					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CAGCCAGGCTGAGGCCTAATG	0.353																																						uc001szt.2		NaN																	0				ovary(2)	2						c.(2320-2322)CTG>CTA		transmembrane and tetratricopeptide repeat							117.0	118.0	118.0					12																	83455601		2203	4300	6503	SO:0001819	synonymous_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83455601G>A	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2322G>A	12.37:g.83455601G>A						TMTC2_uc010suk.1_Silent_p.L529L	p.L774L	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			11	2754	+			774			TPR 9.		B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.2322G>A	CCDS9025.1																																																																																				0.353	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1		NM_152588		11	121	0	0	0	0.001855	0	11	121		
TMTC3	160418	broad.mit.edu	37	12	88570051	88570051	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:88570051G>C	ENST00000266712.6	+	10	1607	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	463					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAAGAACTTTGAGAGAGCTTT	0.289																																						uc001tau.2		NaN																	0				skin(1)	1						c.(1387-1389)GAG>CAG		transmembrane and tetratricopeptide repeat							51.0	56.0	54.0					12																	88570051		2203	4298	6501	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88570051G>C		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1387G>C	12.37:g.88570051G>C	ENSP00000266712:p.Glu463Gln					TMTC3_uc009zsm.2_RNA	p.E463Q	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			10	1607	+			463			TPR 2.		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.1387G>C	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260387	0.59431	.	.	ENSG00000139324	ENST00000266712	T	0.61627	0.09	4.31	4.31	0.51392	.	0.196582	0.48286	D	0.000186	T	0.53318	0.1789	L	0.46614	1.455	0.58432	D	0.999999	B	0.29136	0.234	B	0.31751	0.135	T	0.52503	-0.8567	10	0.30854	T	0.27	-5.8355	17.3087	0.87202	0.0:0.0:1.0:0.0	.	463	Q6ZXV5-2	.	Q	463	ENSP00000266712:E463Q	ENSP00000266712:E463Q	E	+	1	0	TMTC3	87094182	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.027000	0.93706	2.390000	0.81377	0.555000	0.69702	GAG		0.289	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1		NM_181783		4	32	0	0	0	0.000602	0	4	32		
NUDT4	11163	broad.mit.edu	37	12	93792607	93792607	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:93792607G>C	ENST00000415493.2	+	4	743	c.316G>C	c.(316-318)Gat>Cat	p.D106H	NUDT4_ENST00000547014.1_Missense_Mutation_p.D55H|NUDT4_ENST00000548662.1_Missense_Mutation_p.D54H|NUDT4_ENST00000549992.1_Missense_Mutation_p.D54H|NUDT4_ENST00000337179.5_Missense_Mutation_p.D107H	NM_019094.4	NP_061967.3	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	106	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium-mediated signaling (GO:0019722)|cyclic nucleotide metabolic process (GO:0009187)|cyclic-nucleotide-mediated signaling (GO:0019935)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|regulation of RNA export from nucleus (GO:0046831)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)			endometrium(2)|kidney(1)|lung(2)	5						AATATTAGAAGATTGGGAAGA	0.323																																						uc001tcm.2		NaN																	0					0						c.(316-318)GAT>CAT		nudix-type motif 4 isoform alpha							97.0	99.0	98.0					12																	93792607		2203	4300	6503	SO:0001583	missense	11163				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chr12:93792607G>C	AF067803	CCDS9044.1, CCDS44952.1, CCDS73504.1	12q21	2008-09-04			ENSG00000173598	ENSG00000173598		"""Nudix motif containing"""	8051	protein-coding gene	gene with protein product	"""diphosphoinositol polyphosphate phosphohydrolase type 2"""	609229				10777568, 11376937	Standard	XM_005268595		Approved	DIPP2, HDCMB47P, KIAA0487, DIPP2alpha, DIPP2beta	uc001tcm.3	Q9NZJ9	OTTHUMG00000170155	ENST00000415493.2:c.316G>C	12.37:g.93792607G>C	ENSP00000406612:p.Asp106His					NUDT4_uc010sup.1_Missense_Mutation_p.D106H|NUDT4_uc001tcn.2_Missense_Mutation_p.D54H|NUDT4_uc010suq.1_Missense_Mutation_p.D55H|NUDT4_uc001tco.2_Missense_Mutation_p.D54H	p.D106H	NM_019094	NP_061967	Q9NZJ9	NUDT4_HUMAN			4	714	+			106			Nudix hydrolase.		B7Z916|Q4AEJ6|Q53EZ2|Q68DD7|Q9NPC5|Q9NS30|Q9NZK0|Q9NZK1	Missense_Mutation	SNP	ENST00000415493.2	37	c.316G>C	CCDS44952.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346548	0.82022	.	.	ENSG00000173598	ENST00000337179;ENST00000415493;ENST00000550056;ENST00000549992;ENST00000548662;ENST00000547014;ENST00000546925	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.23	5.23	0.72850	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.088474	0.85682	D	0.000000	T	0.56891	0.2016	L	0.42632	1.34	0.80722	D	1	D;D	0.64830	0.993;0.994	P;D	0.63703	0.865;0.917	T	0.56251	-0.8010	10	0.52906	T	0.07	-9.3854	19.159	0.93524	0.0:0.0:1.0:0.0	.	107;106	Q9NZJ9-2;Q9NZJ9	.;NUDT4_HUMAN	H	107;106;54;54;54;55;54	ENSP00000338352:D107H;ENSP00000406612:D106H;ENSP00000448504:D54H;ENSP00000449552:D54H;ENSP00000449724:D54H;ENSP00000448032:D55H;ENSP00000448620:D54H	ENSP00000338352:D107H	D	+	1	0	NUDT4	92316738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.403000	0.73264	2.587000	0.87381	0.561000	0.74099	GAT		0.323	NUDT4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407702.1		NM_019094		3	26	0	0	0	0.004672	0	3	26		
TMCC3	57458	broad.mit.edu	37	12	94975783	94975783	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:94975783T>C	ENST00000261226.4	-	2	741	c.610A>G	c.(610-612)Aga>Gga	p.R204G	TMCC3_ENST00000551457.1_Missense_Mutation_p.R173G	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	204						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GCAAACTCTCTGGACTTATTG	0.512																																						uc001tdj.2		NaN																	0				ovary(1)|skin(1)	2						c.(610-612)AGA>GGA		transmembrane and coiled-coil domain family 3							74.0	80.0	78.0					12																	94975783		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94975783T>C	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.610A>G	12.37:g.94975783T>C	ENSP00000261226:p.Arg204Gly					TMCC3_uc001tdi.2_Missense_Mutation_p.R173G	p.R204G	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			2	728	-			204					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.610A>G	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.369382	0.61624	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.52057	0.68;0.68	5.73	1.79	0.24919	.	0.040180	0.85682	D	0.000000	T	0.52757	0.1754	M	0.83384	2.64	0.80722	D	1	P	0.46457	0.878	B	0.42959	0.403	T	0.64575	-0.6375	10	0.87932	D	0	-22.8107	13.412	0.60948	0.0:0.0:0.4035:0.5965	.	204	Q9ULS5	TMCC3_HUMAN	G	204;173	ENSP00000261226:R204G;ENSP00000449888:R173G	ENSP00000261226:R204G	R	-	1	2	TMCC3	93499914	1.000000	0.71417	0.994000	0.49952	0.655000	0.38815	0.621000	0.24418	0.508000	0.28173	-0.501000	0.04562	AGA		0.512	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1		NM_020698		13	82	0	0	0	0.004007	0	13	82		
HAL	3034	broad.mit.edu	37	12	96389601	96389601	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:96389601C>T	ENST00000261208.3	-	2	456	c.88G>A	c.(88-90)Gag>Aag	p.E30K	HAL_ENST00000538703.1_Missense_Mutation_p.E30K|RP11-256L6.3_ENST00000551849.1_RNA|HAL_ENST00000541929.1_5'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	30					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CTCACGGCCTCCCGGCCCAGC	0.652																																					NSCLC(169;943 2815 23563 30031)	uc001tem.1		NaN																	0				ovary(2)|skin(1)	3						c.(88-90)GAG>AAG		histidine ammonia-lyase	L-Histidine(DB00117)						41.0	35.0	37.0					12																	96389601		2203	4299	6502	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96389601C>T		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.88G>A	12.37:g.96389601C>T	ENSP00000261208:p.Glu30Lys					HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Missense_Mutation_p.E30K	p.E30K	NM_002108	NP_002099	P42357	HUTH_HUMAN			2	385	-			30					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.88G>A	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724823	0.89298	.	.	ENSG00000084110	ENST00000261208;ENST00000538703;ENST00000552509	T;T;D	0.87029	-1.2;-1.17;-2.2	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.85204	0.5643	L	0.58669	1.825	0.80722	D	1	B;B	0.31318	0.319;0.257	B;B	0.26416	0.069;0.043	D	0.83383	0.0013	10	0.38643	T	0.18	-23.4284	19.0765	0.93165	0.0:1.0:0.0:0.0	.	30;30	F5GXF2;P42357	.;HUTH_HUMAN	K	30	ENSP00000261208:E30K;ENSP00000440861:E30K;ENSP00000450372:E30K	ENSP00000261208:E30K	E	-	1	0	HAL	94913732	1.000000	0.71417	0.972000	0.41901	0.529000	0.34654	7.445000	0.80570	2.582000	0.87167	0.491000	0.48974	GAG		0.652	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1				7	33	0	0	0	0.00308	0	7	33		
NEDD1	121441	broad.mit.edu	37	12	97345758	97345758	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:97345758C>G	ENST00000266742.4	+	16	2249	c.1910C>G	c.(1909-1911)tCa>tGa	p.S637*	NEDD1_ENST00000429527.2_Nonsense_Mutation_p.S637*|NEDD1_ENST00000557644.1_Nonsense_Mutation_p.S644*|NEDD1_ENST00000457368.2_Nonsense_Mutation_p.S548*|NEDD1_ENST00000411739.2_Nonsense_Mutation_p.S548*	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	637					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GAAAGATACTCAGTGAATGAA	0.318																																						uc001teu.3		NaN																	0					0						c.(1909-1911)TCA>TGA		neural precursor cell expressed, developmentally							78.0	80.0	79.0					12																	97345758		2203	4300	6503	SO:0001587	stop_gained	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97345758C>G		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1910C>G	12.37:g.97345758C>G	ENSP00000266742:p.Ser637*					NEDD1_uc001tev.3_Nonsense_Mutation_p.S637*|NEDD1_uc010svc.1_Nonsense_Mutation_p.S548*|NEDD1_uc001tew.2_Nonsense_Mutation_p.S644*|NEDD1_uc001tex.2_Nonsense_Mutation_p.S548*	p.S637*	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN			16	2249	+			637					B0AZN0|B4E145|G3V3F1|Q8NA30	Nonsense_Mutation	SNP	ENST00000266742.4	37	c.1910C>G	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	C	39	7.606566	0.98387	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	X	637;637;548;644;548	.	ENSP00000266742:S637X	S	+	2	0	NEDD1	95869889	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.863000	0.69568	2.838000	0.97847	0.591000	0.81541	TCA		0.318	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1				6	60	0	0	0	0.001168	0	6	60		
ANKS1B	56899	broad.mit.edu	37	12	99640173	99640173	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:99640173G>C	ENST00000547776.2	-	13	2225	c.2226C>G	c.(2224-2226)ctC>ctG	p.L742L	ANKS1B_ENST00000329257.7_Silent_p.L742L|ANKS1B_ENST00000547010.1_Silent_p.L322L|ANKS1B_ENST00000550833.1_5'Flank	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	742						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)		GATAGGCAATGAGATCAGAAT	0.413																																						uc001tge.1		NaN																	0					0						c.(2224-2226)CTC>CTG		cajalin 2 isoform a							106.0	100.0	102.0					12																	99640173		1915	4107	6022	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640173G>C	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.2226C>G	12.37:g.99640173G>C						ANKS1B_uc001tgf.1_Silent_p.L322L|ANKS1B_uc001tgk.2_Silent_p.L39L|ANKS1B_uc009ztt.1_Silent_p.L708L	p.L742L	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)	13	2643	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	742					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.2226C>G	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	5.453	0.268605	0.10349	.	.	ENSG00000185046	ENST00000550778	.	.	.	5.21	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2627	4.4365	0.11552	0.1961:0.0:0.6245:0.1794	.	.	.	.	X	14	.	.	S	-	2	0	ANKS1B	98164304	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	0.718000	0.25866	1.295000	0.44724	0.462000	0.41574	TCA		0.413	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3		NM_020140		11	45	0	0	0	0.010729	0	11	45		
PARPBP	55010	broad.mit.edu	37	12	102547708	102547708	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:102547708C>G	ENST00000358383.5	+	4	494	c.449C>G	c.(448-450)tCt>tGt	p.S150C	PARPBP_ENST00000541394.1_Missense_Mutation_p.S227C|PARPBP_ENST00000392911.2_Missense_Mutation_p.S69C|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Missense_Mutation_p.S150C|PARPBP_ENST00000327680.2_Missense_Mutation_p.S69C|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	150					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						ACTGATCTTTCTATACCAACA	0.338																																						uc001tjf.2		NaN																	0					0						c.(448-450)TCT>TGT		hypothetical protein LOC55010							134.0	121.0	125.0					12																	102547708		2203	4299	6502	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102547708C>G	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.449C>G	12.37:g.102547708C>G	ENSP00000351153:p.Ser150Cys					C12orf48_uc001tje.2_Missense_Mutation_p.S69C|C12orf48_uc001tjg.2_Missense_Mutation_p.S69C|C12orf48_uc010swa.1_Missense_Mutation_p.S227C|C12orf48_uc001tjh.2_Missense_Mutation_p.S69C|C12orf48_uc010swb.1_Intron|C12orf48_uc001tji.2_Missense_Mutation_p.S154C|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_5'UTR|C12orf48_uc001tjk.2_Missense_Mutation_p.S150C|C12orf48_uc009zud.2_Missense_Mutation_p.S150C	p.S150C	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN			4	561	+			150					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.449C>G	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	C	4.369	0.067982	0.08436	.	.	ENSG00000185480	ENST00000378128;ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911;ENST00000417507;ENST00000412715	T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.46	-10.9	0.00192	.	1.448400	0.03463	N	0.212487	T	0.29158	0.0725	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B	0.10296	0.001;0.0;0.003;0.001;0.0;0.001	B;B;B;B;B;B	0.09377	0.002;0.001;0.004;0.002;0.002;0.002	T	0.13388	-1.0511	10	0.38643	T	0.18	7.2518	6.8667	0.24098	0.2066:0.4373:0.2873:0.0688	.	227;150;150;150;150;69	B4DZ31;Q9NWS1-6;Q9NWS1-7;Q9NWS1-3;Q9NWS1;Q9NWS1-2	.;.;.;.;PR1BP_HUMAN;.	C	150;69;227;150;69;117;117	ENSP00000367368:S150C;ENSP00000332915:S69C;ENSP00000440850:S227C;ENSP00000351153:S150C;ENSP00000376643:S69C;ENSP00000411313:S117C;ENSP00000393867:S117C	ENSP00000332915:S69C	S	+	2	0	C12orf48	101071838	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-3.862000	0.00348	-3.183000	0.00221	-0.410000	0.06199	TCT		0.338	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2		NM_017915		11	76	0	0	0	0.003163	0	11	76		
NT5DC3	51559	broad.mit.edu	37	12	104182660	104182660	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:104182660A>T	ENST00000392876.3	-	10	1097	c.1057T>A	c.(1057-1059)Tgg>Agg	p.W353R		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	353						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ATTTTATCCCAGAGTAAGACA	0.403																																						uc010swe.1		NaN																	0				ovary(2)|skin(1)	3						c.(1057-1059)TGG>AGG		5'-nucleotidase domain containing 3							283.0	264.0	270.0					12																	104182660		2203	4300	6503	SO:0001583	missense	51559						hydrolase activity|metal ion binding	g.chr12:104182660A>T	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1057T>A	12.37:g.104182660A>T	ENSP00000376615:p.Trp353Arg						p.W353R	NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN			10	1098	-			353					Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	c.1057T>A	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525723	0.85600	.	.	ENSG00000111696	ENST00000392876	T	0.21543	2.0	5.81	5.81	0.92471	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.51143	0.1657	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.57376	-0.7822	10	0.87932	D	0	-20.3836	16.1667	0.81768	1.0:0.0:0.0:0.0	.	353	Q86UY8	NT5D3_HUMAN	R	353	ENSP00000376615:W353R	ENSP00000376615:W353R	W	-	1	0	NT5DC3	102706790	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.178000	0.94855	2.210000	0.71456	0.533000	0.62120	TGG		0.403	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2		NM_016575		35	196	0	0	0	0.011902	0	35	196		
SLC41A2	84102	broad.mit.edu	37	12	105238268	105238268	+	Silent	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:105238268T>C	ENST00000258538.3	-	9	1645	c.1518A>G	c.(1516-1518)ttA>ttG	p.L506L		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	506					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CAGCGCCAAATAAATACACTA	0.318																																					Esophageal Squamous(195;176 2919 4272 35572)	uc001tla.2		NaN																	0				ovary(1)|skin(1)	2						c.(1516-1518)TTA>TTG		solute carrier family 41, member 2							69.0	77.0	74.0					12																	105238268		2203	4291	6494	SO:0001819	synonymous_variant	84102					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr12:105238268T>C	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.1518A>G	12.37:g.105238268T>C							p.L506L	NM_032148	NP_115524	Q96JW4	S41A2_HUMAN			9	1685	-			506			Helical; (Potential).		Q3KP68|Q9H0E5	Silent	SNP	ENST00000258538.3	37	c.1518A>G	CCDS9100.2																																																																																				0.318	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3		NM_032148		14	85	0	0	0	0.00245	0	14	85		
CCDC64	92558	broad.mit.edu	37	12	120510439	120510439	+	Missense_Mutation	SNP	C	C	T	rs374769468		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:120510439C>T	ENST00000397558.2	+	6	1214	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L	CCDC64_ENST00000446727.2_Intron|CCDC64_ENST00000257583.4_Missense_Mutation_p.S54L	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	405					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAGAAACCTCGTCCGCCAAG	0.567																																						uc001txl.1		NaN																	0				ovary(2)	2						c.(1213-1215)TCG>TTG		coiled-coil domain containing 64		C	LEU/SER	1,4205		0,1,2102	55.0	58.0	57.0		1214	5.7	0.9	12		57	0,8456		0,0,4228	no	missense	CCDC64	NM_207311.2	145	0,1,6330	TT,TC,CC		0.0,0.0238,0.0079	benign	405/574	120510439	1,12661	2103	4228	6331	SO:0001583	missense	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120510439C>T	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1214C>T	12.37:g.120510439C>T	ENSP00000380690:p.Ser405Leu					CCDC64_uc001txk.2_Missense_Mutation_p.S405L|CCDC64_uc009zwv.1_Intron|CCDC64_uc010sze.1_Intron|CCDC64_uc010szf.1_Missense_Mutation_p.S54L	p.S405L	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN			6	1239	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		405					A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	c.1214C>T	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463021	0.63513	2.38E-4	0.0	ENSG00000135127	ENST00000357093;ENST00000397558;ENST00000548673;ENST00000257583	T;T	0.04603	3.59;3.59	5.67	5.67	0.87782	.	0.271761	0.37095	N	0.002244	T	0.05273	0.0140	N	0.25647	0.755	0.49915	D	0.999837	P;P	0.36483	0.47;0.555	B;B	0.31390	0.041;0.129	T	0.47005	-0.9150	10	0.46703	T	0.11	-3.0787	19.7706	0.96363	0.0:1.0:0.0:0.0	.	54;405	B4DWL0;Q6ZP65	.;BICR1_HUMAN	L	386;405;75;54	ENSP00000380690:S405L;ENSP00000447477:S75L	ENSP00000257583:S54L	S	+	2	0	CCDC64	118994822	1.000000	0.71417	0.947000	0.38551	0.910000	0.53928	5.659000	0.68010	2.697000	0.92050	0.655000	0.94253	TCG		0.567	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2		NM_207311		8	62	0	0	0	0.006214	0	8	62		
VPS37B	79720	broad.mit.edu	37	12	123380553	123380553	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:123380553G>C	ENST00000267202.2	-	1	438	c.57C>G	c.(55-57)aaC>aaG	p.N19K		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	19					endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CCAGCAGCTCGTTGAGCTGCA	0.716																																						uc001udl.2		NaN																	0					0						c.(55-57)AAC>AAG		vacuolar protein sorting 37B							47.0	48.0	48.0					12																	123380553		2202	4300	6502	SO:0001583	missense	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123380553G>C	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.57C>G	12.37:g.123380553G>C	ENSP00000267202:p.Asn19Lys						p.N19K	NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	1	160	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		19						Missense_Mutation	SNP	ENST00000267202.2	37	c.57C>G	CCDS9239.1	.	.	.	.	.	.	.	.	.	.	G	9.559	1.117921	0.20877	.	.	ENSG00000139722	ENST00000267202;ENST00000535765	T;T	0.74842	-0.88;-0.88	3.67	2.77	0.32553	Modifier of rudimentary, Modr (1);	0.123243	0.53938	U	0.000054	T	0.53142	0.1778	N	0.13235	0.315	0.38294	D	0.942804	B	0.24258	0.1	B	0.30646	0.118	T	0.39583	-0.9607	10	0.13470	T	0.59	-4.615	7.0447	0.25038	0.1297:0.0:0.8703:0.0	.	19	Q9H9H4	VP37B_HUMAN	K	19	ENSP00000267202:N19K;ENSP00000446075:N19K	ENSP00000267202:N19K	N	-	3	2	VPS37B	121946506	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.612000	0.36889	0.867000	0.35654	-0.218000	0.12543	AAC		0.716	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1		NM_024667		3	47	0	0	0	0.001168	0	3	47		
GPR133	283383	broad.mit.edu	37	12	131487836	131487836	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:131487836C>A	ENST00000261654.5	+	10	1692	c.1133C>A	c.(1132-1134)tCt>tAt	p.S378Y	GPR133_ENST00000535015.1_Missense_Mutation_p.S410Y|GPR133_ENST00000376682.4_Missense_Mutation_p.S64Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	378					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(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAGGGCTCCTCTGCCATGGCA	0.602																																						uc001uit.3		NaN																	0				pancreas(5)|ovary(3)|skin(2)	10						c.(1132-1134)TCT>TAT		G protein-coupled receptor 133 precursor							81.0	69.0	73.0					12																	131487836		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131487836C>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1133C>A	12.37:g.131487836C>A	ENSP00000261654:p.Ser378Tyr					GPR133_uc010tbm.1_Missense_Mutation_p.S410Y	p.S378Y	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1692	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		378			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1133C>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455475	0.63401	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.59772	0.27;0.24;0.3	4.64	4.64	0.57946	.	0.066413	0.64402	D	0.000007	T	0.71108	0.3301	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.99	T	0.72906	-0.4150	10	0.56958	D	0.05	.	13.3565	0.60631	0.0:1.0:0.0:0.0	.	410;378	B7ZLF7;Q6QNK2	.;GP133_HUMAN	Y	378;410;69;74;64	ENSP00000261654:S378Y;ENSP00000444425:S410Y;ENSP00000365872:S64Y	ENSP00000261654:S378Y	S	+	2	0	GPR133	130053789	0.542000	0.26426	0.033000	0.17914	0.002000	0.02628	3.640000	0.54350	2.315000	0.78130	0.511000	0.50034	TCT		0.602	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1		NM_198827		4	44	1	0	0.00116845	0.001168	0.00119841	4	44		
CHFR	55743	broad.mit.edu	37	12	133433091	133433092	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:133433091_133433092CC>AA	ENST00000432561.2	-	10	1300_1301	c.1227_1228GG>TT	c.(1225-1230)ctGGag>ctTTag	p.E410*	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000537522.1_Nonsense_Mutation_p.E32*|CHFR_ENST00000450056.2_Nonsense_Mutation_p.E398*|CHFR_ENST00000266880.7_Nonsense_Mutation_p.E410*|CHFR_ENST00000315585.7_Nonsense_Mutation_p.E369*|CHFR_ENST00000443047.2_Nonsense_Mutation_p.E318*			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	410					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCTGACAGCTCCAGCAGGTCCT	0.505																																						uc001ulf.2		NaN																	0				skin(1)	1						c.(1225-1230)CTGGAG>CTTTAG		checkpoint with forkhead and ring finger domains																																				SO:0001587	stop_gained	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133433091_133433092CC>AA	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1227_1228delinsAA	12.37:g.133433091_133433092delinsAA	ENSP00000392395:p.Glu410*					CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Nonsense_Mutation_p.E398*|CHFR_uc010tbs.1_Nonsense_Mutation_p.E410*|CHFR_uc001uld.2_Nonsense_Mutation_p.E369*|CHFR_uc010tbt.1_Nonsense_Mutation_p.E318*	p.E410*	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	10	1311_1312	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	410					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Nonsense_Mutation	DNP	ENST00000432561.2	37	c.1227_1228GG>TT	CCDS53849.1																																																																																				0.505	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2				29	99	0	0	0	0.004672	0	29	99		
CENPJ	55835	broad.mit.edu	37	13	25473722	25473722	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:25473722C>A	ENST00000381884.4	-	9	3011	c.2826G>T	c.(2824-2826)agG>agT	p.R942S	CENPJ_ENST00000545981.1_Splice_Site_p.R942S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	942					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)		CAATTTCTTTCCTAAAATGAC	0.403																																						uc001upt.3		NaN																	0				ovary(2)	2						c.(2824-2826)AGG>AGT		centromere protein J							73.0	65.0	68.0					13																	25473722		2203	4298	6501	SO:0001630	splice_region_variant	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.chr13:25473722C>A	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.2826-1G>T	13.37:g.25473722C>A						CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'UTR	p.R942S	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	9	3079	-		Lung SC(185;0.0225)|Breast(139;0.0602)	942					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.2826G>T	CCDS9310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.63|19.63	3.863062|3.863062	0.71949|0.71949	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000418179|ENST00000381884;ENST00000545981;ENST00000445729	.|T;T	.|0.38077	.|1.16;1.74	5.25|5.25	2.54|2.54	0.30619|0.30619	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.54822	.|0.1882	M|M	0.80183|0.80183	2.485|2.485	0.41539|0.41539	D|D	0.988508|0.988508	.|D	.|0.89917	.|1.0	.|D	.|0.69307	.|0.963	.|T	.|0.55360	.|-0.8153	.|10	.|0.29301	.|T	.|0.29	.|.	9.8753|9.8753	0.41200|0.41200	0.0:0.7743:0.0:0.2257|0.0:0.7743:0.0:0.2257	.|.	.|942	.|Q9HC77	.|CENPJ_HUMAN	X|S	24|942	.|ENSP00000371308:R942S;ENSP00000441090:R942S	.|ENSP00000371308:R942S	E|R	-|-	1|3	0|2	CENPJ|CENPJ	24371722|24371722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.710000|1.710000	0.37920|0.37920	1.215000|1.215000	0.43411|0.43411	0.644000|0.644000	0.83932|0.83932	GAA|AGG		0.403	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1		NM_018451	Missense_Mutation	7	29	1	0	0.000442599	0.006214	0.000456288	7	29		
CDK8	1024	broad.mit.edu	37	13	26828880	26828880	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:26828880C>T	ENST00000381527.3	+	1	605	c.102C>T	c.(100-102)caC>caT	p.H34H	CDK8_ENST00000536792.1_Silent_p.H34H	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	34	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CTTATGGTCACGTCTACAAAG	0.607																																						uc001uqr.1		NaN																	0				lung(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(100-102)CAC>CAT		cyclin-dependent kinase 8							148.0	137.0	141.0					13																	26828880		2203	4300	6503	SO:0001819	synonymous_variant	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26828880C>T	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.102C>T	13.37:g.26828880C>T						CDK8_uc001uqs.1_Silent_p.H34H|CDK8_uc001uqt.1_Translation_Start_Site	p.H34H	NM_001260	NP_001251	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	1	128	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	34			Protein kinase.|ATP (By similarity).		Q5VUF3|Q6ISB5	Silent	SNP	ENST00000381527.3	37	c.102C>T	CCDS9317.1																																																																																				0.607	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1				7	28	0	0	0	0.00308	0	7	28		
FRY	10129	broad.mit.edu	37	13	32826017	32826017	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:32826017G>A	ENST00000380250.3	+	50	7669	c.7173G>A	c.(7171-7173)aaG>aaA	p.K2391K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2391						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTTTCCAGAAGAGAACAAAAG	0.403																																						uc001utx.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(7171-7173)AAG>AAA		furry homolog							183.0	172.0	175.0					13																	32826017		1845	4096	5941	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32826017G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7173G>A	13.37:g.32826017G>A						FRY_uc010tdw.1_RNA|FRY_uc001uty.2_5'Flank	p.K2391K	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	50	7669	+		Lung SC(185;0.0271)	2391					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.7173G>A	CCDS41875.1																																																																																				0.403	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037		10	139	0	0	0	0.003163	0	10	139		
DIAPH3	81624	broad.mit.edu	37	13	60545102	60545102	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:60545102G>T	ENST00000400324.4	-	16	2063	c.1843C>A	c.(1843-1845)Ccc>Acc	p.P615T	DIAPH3_ENST00000400320.1_Missense_Mutation_p.P569T|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P604T|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P545T|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P615T|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P615T	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	615	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AATCCCAGGGGAGGTGGTGGA	0.542																																						uc001vht.2		NaN																	0				ovary(2)	2						c.(1843-1845)CCC>ACC		diaphanous homolog 3 isoform a							60.0	66.0	64.0					13																	60545102		1916	4127	6043	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60545102G>T	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1843C>A	13.37:g.60545102G>T	ENSP00000383178:p.Pro615Thr					DIAPH3_uc001vhu.2_Missense_Mutation_p.P352T|DIAPH3_uc001vhv.2_Missense_Mutation_p.P193T	p.P615T	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	16	2062	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	615			FH1.|Pro-rich.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.1843C>A	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966699	0.74131	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.27	4.41	0.53225	Actin-binding FH2 (1);	0.000000	0.85682	D	0.000000	T	0.63402	0.2508	M	0.77486	2.375	0.36112	D	0.844848	D;D;P	0.89917	1.0;0.991;0.851	D;P;B	0.91635	0.999;0.849;0.321	T	0.69461	-0.5139	10	0.33940	T	0.23	.	14.2548	0.66043	0.0736:0.0:0.9264:0.0	.	352;352;615	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	T	615;615;604;569;545;604;545;569;615;352;615	ENSP00000383178:P615T;ENSP00000383184:P615T;ENSP00000367141:P604T;ENSP00000383173:P545T;ENSP00000383174:P569T;ENSP00000267215:P615T	ENSP00000267214:P352T	P	-	1	0	DIAPH3	59443103	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.556000	0.82233	2.457000	0.83068	0.655000	0.94253	CCC		0.542	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3		NM_001042517		40	113	1	0	6.31075e-24	0.01441	6.98607e-24	40	113		
KLF5	688	broad.mit.edu	37	13	73636090	73636090	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:73636090C>T	ENST00000377687.4	+	2	889	c.353C>T	c.(352-354)tCa>tTa	p.S118L	KLF5_ENST00000539231.1_Missense_Mutation_p.S27L|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	118					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|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)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GACAGTGCCTCAGTCGTAGAC	0.443																																						uc001vje.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(352-354)TCA>TTA		Kruppel-like factor 5							182.0	170.0	174.0					13																	73636090		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636090C>T	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.353C>T	13.37:g.73636090C>T	ENSP00000366915:p.Ser118Leu					KLF5_uc001vjd.2_Missense_Mutation_p.S27L	p.S118L	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	677	+		Prostate(6;0.00187)|Breast(118;0.0735)	118					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.353C>T	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667313	0.88348	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.13538	2.92;2.58	6.04	6.04	0.98038	.	0.160337	0.51477	D	0.000089	T	0.35970	0.0950	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.00247	-1.1881	10	0.46703	T	0.11	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	118	Q13887	KLF5_HUMAN	L	27;118;98	ENSP00000440407:S27L;ENSP00000366915:S118L	ENSP00000366915:S118L	S	+	2	0	KLF5	72534091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.591000	0.61019	2.873000	0.98535	0.563000	0.77884	TCA		0.443	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1				17	243	0	0	0	0.007413	0	17	243		
KLF5	688	broad.mit.edu	37	13	73636396	73636396	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:73636396C>T	ENST00000377687.4	+	2	1195	c.659C>T	c.(658-660)tCt>tTt	p.S220F	KLF5_ENST00000539231.1_Missense_Mutation_p.S129F|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	220					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|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)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CTTCATCTTTCTGTCCCTACC	0.463																																						uc001vje.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(658-660)TCT>TTT		Kruppel-like factor 5							87.0	88.0	88.0					13																	73636396		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636396C>T	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.659C>T	13.37:g.73636396C>T	ENSP00000366915:p.Ser220Phe					KLF5_uc001vjd.2_Missense_Mutation_p.S129F	p.S220F	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	983	+		Prostate(6;0.00187)|Breast(118;0.0735)	220					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.659C>T	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351979	0.61183	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.08546	3.25;3.08	5.94	5.94	0.96194	.	0.110458	0.64402	D	0.000018	T	0.22666	0.0547	L	0.49350	1.555	0.51012	D	0.999906	D	0.62365	0.991	P	0.58660	0.843	T	0.00009	-1.2463	10	0.52906	T	0.07	.	20.3591	0.98849	0.0:1.0:0.0:0.0	.	220	Q13887	KLF5_HUMAN	F	129;220;200	ENSP00000440407:S129F;ENSP00000366915:S220F	ENSP00000366915:S220F	S	+	2	0	KLF5	72534397	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.829000	0.39121	2.816000	0.96949	0.561000	0.74099	TCT		0.463	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1				4	93	0	0	0	0.009096	0	4	93		
LMO7	4008	broad.mit.edu	37	13	76335156	76335156	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:76335156C>G	ENST00000341547.4	+	5	1715	c.455C>G	c.(454-456)tCa>tGa	p.S152*	LMO7_ENST00000526202.1_Nonsense_Mutation_p.S61*|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000357063.3_Nonsense_Mutation_p.S152*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.S152*|LMO7_ENST00000321797.8_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	152	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAGGATTTATCAAATCGAGTC	0.333																																						uc001vjv.2		NaN																	0				large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(-402--398)ATCAA>ATGAA		LIM domain only 7 isoform 2							66.0	64.0	64.0					13																	76335156		2203	4300	6503	SO:0001587	stop_gained	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76335156C>G	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.455C>G	13.37:g.76335156C>G	ENSP00000342112:p.Ser152*					LMO7_uc010thv.1_Nonsense_Mutation_p.S152*|LMO7_uc001vjt.1_Nonsense_Mutation_p.S100*|LMO7_uc010thw.1_Nonsense_Mutation_p.S61*|LMO7_uc001vju.1_RNA		NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	1	360	+		Breast(118;0.0992)						E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Translation_Start_Site	SNP	ENST00000341547.4	37	c.-400C>G	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	C	49	15.625034	0.99840	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	.	.	.	5.75	5.75	0.90469	.	0.087068	0.47455	D	0.000222	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.8878	19.9564	0.97221	0.0:1.0:0.0:0.0	.	.	.	.	X	152;152;152;100;61	.	ENSP00000342112:S152X	S	+	2	0	LMO7	75233157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.708000	0.92522	0.650000	0.86243	TCA		0.333	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1		NM_005358		15	34	0	0	0	0.007413	0	15	34		
NALCN	259232	broad.mit.edu	37	13	102029397	102029397	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:102029397A>C	ENST00000251127.6	-	5	467	c.386T>G	c.(385-387)aTt>aGt	p.I129S	NALCN_ENST00000376196.3_Missense_Mutation_p.I129S|NALCN_ENST00000376200.5_Missense_Mutation_p.I129S|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	129					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATATCAGCAATTTCAAACAC	0.403																																						uc001vox.1		NaN																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(385-387)ATT>AGT		voltage gated channel like 1							58.0	57.0	57.0					13																	102029397		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029397A>C	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.386T>G	13.37:g.102029397A>C	ENSP00000251127:p.Ile129Ser					NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.I129S|NALCN_uc001vpa.2_Missense_Mutation_p.I129S	p.I129S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			5	575	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		129			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.386T>G	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.420906	0.83559	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98329	-4.87;-4.87;-4.87	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	L	0.39020	1.185	0.80722	D	1	D;D	0.60160	0.987;0.987	P;P	0.62649	0.905;0.905	D	0.99301	1.0901	10	0.87932	D	0	.	15.0647	0.71983	1.0:0.0:0.0:0.0	.	129;129	F2Z323;Q8IZF0	.;NALCN_HUMAN	S	129	ENSP00000251127:I129S;ENSP00000365367:I129S;ENSP00000365373:I129S	ENSP00000251127:I129S	I	-	2	0	NALCN	100827398	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	1.954000	0.56735	0.455000	0.32223	ATT		0.403	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867		5	83	0	0	0	0.000602	0	5	83		
MYO16	23026	broad.mit.edu	37	13	109661365	109661365	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:109661365A>G	ENST00000357550.2	+	21	2538	c.2497A>G	c.(2497-2499)Aac>Gac	p.N833D	MYO16_ENST00000251041.5_Missense_Mutation_p.N833D|MYO16_ENST00000356711.2_Missense_Mutation_p.N833D|MYO16_ENST00000457511.2_Missense_Mutation_p.N345D	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)			TTCTCCTGGTAACCAGAATGG	0.353																																						uc001vqt.1		NaN																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(2497-2499)AAC>GAC		myosin heavy chain Myr 8							98.0	99.0	99.0					13																	109661365		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.chr13:109661365A>G		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2497A>G	13.37:g.109661365A>G	ENSP00000350160:p.Asn833Asp					MYO16_uc010agk.1_Missense_Mutation_p.N855D|MYO16_uc001vqu.1_Missense_Mutation_p.N633D|MYO16_uc010tjh.1_Missense_Mutation_p.N345D	p.N833D	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		22	2623	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		833						Missense_Mutation	SNP	ENST00000357550.2	37	c.2497A>G	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.441956	0.83993	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	5.66	4.49	0.54785	Myosin head, motor domain (2);	0.000000	0.44285	U	0.000471	D	0.92100	0.7496	L	0.37697	1.125	0.40492	D	0.980556	D;P;D	0.59767	0.971;0.948;0.986	P;P;P	0.62813	0.828;0.765;0.907	D	0.90619	0.4558	9	.	.	.	.	10.8589	0.46815	0.9262:0.0:0.0738:0.0	.	345;833;833	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	D	833;833;833;833;621;345	ENSP00000349145:N833D;ENSP00000350160:N833D;ENSP00000251041:N833D;ENSP00000401633:N345D	.	N	+	1	0	MYO16	108459366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.830000	0.69324	1.083000	0.41159	0.533000	0.62120	AAC		0.353	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1		NM_015011		11	128	0	0	0	0.013537	0	11	128		
TMCO3	55002	broad.mit.edu	37	13	114154315	114154315	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:114154315G>A	ENST00000434316.2	+	4	1026	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.E223K	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	223	Poly-Glu.			E -> G (in Ref. 2; BAA91295). {ECO:0000305}.		integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GGTGGAGGAAGAAGAGGCCAA	0.383																																						uc001vtu.3		NaN																	0					0						c.(667-669)GAA>AAA		transmembrane and coiled-coil domains 3							101.0	92.0	95.0					13																	114154315		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114154315G>A	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.667G>A	13.37:g.114154315G>A	ENSP00000389399:p.Glu223Lys					TMCO3_uc001vtt.3_Missense_Mutation_p.E223K	p.E223K	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		4	1028	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	223	E -> G (in Ref. 2; BAA91295).		Poly-Glu.		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.667G>A	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852309	0.32699	.	.	ENSG00000150403	ENST00000434316;ENST00000375391	T	0.29917	1.55	5.21	4.34	0.51931	.	0.106302	0.64402	D	0.000006	T	0.20659	0.0497	N	0.14661	0.345	0.42395	D	0.992548	B;B	0.31625	0.224;0.332	B;B	0.30572	0.034;0.117	T	0.06679	-1.0813	10	0.51188	T	0.08	-9.1743	15.0878	0.72167	0.0:0.0:0.857:0.143	.	223;223	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	K	223	ENSP00000389399:E223K	ENSP00000364540:E223K	E	+	1	0	TMCO3	113202316	1.000000	0.71417	0.969000	0.41365	0.331000	0.28603	5.111000	0.64628	1.259000	0.44117	0.585000	0.79938	GAA		0.383	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3		NM_017905		4	68	0	0	0	0.000602	0	4	68		
CHD8	57680	broad.mit.edu	37	14	21897300	21897300	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:21897300C>T	ENST00000557364.1	-	3	1301	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000430710.3_Silent_p.Q67Q|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Silent_p.Q346Q			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	346	Gln-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTTGCTGTGGCTGCTGCACCT	0.567																																						uc001was.1		NaN																	0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(199-201)CAG>CAA		chromodomain helicase DNA binding protein 8							118.0	134.0	129.0					14																	21897300		2116	4244	6360	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21897300C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1038G>A	14.37:g.21897300C>T						CHD8_uc001war.1_5'UTR	p.Q67Q	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	3	295	-	all_cancers(95;0.00121)		346			Gln-rich.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.201G>A	CCDS53885.1																																																																																				0.567	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1		NM_020920		9	87	0	0	0	0.006214	0	9	87		
MMP14	4323	broad.mit.edu	37	14	23306101	23306101	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:23306101C>T	ENST00000311852.6	+	1	336	c.75C>T	c.(73-75)ctC>ctT	p.L25L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	25					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TCGCCTCCCTCGGCTCGGCCC	0.726											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001whc.2		NaN																	0					0						c.(73-75)CTC>CTT		matrix metalloproteinase 14 preproprotein							27.0	23.0	24.0					14																	23306101		2202	4298	6500	SO:0001819	synonymous_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23306101C>T		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.75C>T	14.37:g.23306101C>T			OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	762		p.L25L	NM_004995	NP_004986	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	1	309	+	all_cancers(95;9.47e-05)		25					A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	c.75C>T	CCDS9577.1																																																																																				0.726	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3		NM_004995		5	47	0	0	0	0.000602	0	5	47		
RNF31	55072	broad.mit.edu	37	14	24617902	24617902	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:24617902G>A	ENST00000324103.6	+	4	867	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	RNF31_ENST00000559275.1_Missense_Mutation_p.E32K|PSME2_ENST00000560410.1_5'Flank|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000382687.3_Missense_Mutation_p.E32K|PSME2_ENST00000216802.5_5'Flank|RNF31_ENST00000557878.1_3'UTR|RP11-468E2.4_ENST00000558468.1_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	183	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGACAAGGTTGAAGATGATGT	0.453																																						uc001wmn.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(547-549)GAA>AAA		ring finger protein 31							145.0	159.0	154.0					14																	24617902		2024	4178	6202	SO:0001583	missense	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24617902G>A	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.547G>A	14.37:g.24617902G>A	ENSP00000315112:p.Glu183Lys					PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_Missense_Mutation_p.E32K|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	p.E183K	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	4	796	+			183			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	c.547G>A	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379686	0.42207	.	.	ENSG00000092098	ENST00000324103;ENST00000382687	T;T	0.42131	0.98;0.99	4.52	3.54	0.40534	.	0.296201	0.33110	N	0.005266	T	0.28797	0.0714	L	0.40543	1.245	0.30657	N	0.754827	B;B	0.29716	0.255;0.187	B;B	0.25291	0.039;0.059	T	0.20009	-1.0288	10	0.41790	T	0.15	-33.5825	6.655	0.22982	0.1319:0.0:0.8681:0.0	.	183;32	Q96EP0;Q96EP0-3	RNF31_HUMAN;.	K	183;32	ENSP00000315112:E183K;ENSP00000372134:E32K	ENSP00000315112:E183K	E	+	1	0	RNF31	23687742	0.975000	0.34042	0.945000	0.38365	0.824000	0.46624	1.940000	0.40223	2.348000	0.79779	0.561000	0.74099	GAA		0.453	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3		NM_017999		6	71	0	0	0	0.001984	0	6	71		
HECTD1	25831	broad.mit.edu	37	14	31575931	31575931	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:31575931C>T	ENST00000399332.1	-	38	7635	c.7147G>A	c.(7147-7149)Gag>Aag	p.E2383K	HECTD1_ENST00000553700.1_Missense_Mutation_p.E2383K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2383	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTGTTCTTCTCATCTTCAGAA	0.378																																						uc001wrc.1		NaN																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(7147-7149)GAG>AAG		HECT domain containing 1							105.0	95.0	98.0					14																	31575931		1845	4100	5945	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31575931C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.7147G>A	14.37:g.31575931C>T	ENSP00000382269:p.Glu2383Lys					HECTD1_uc001wra.1_Missense_Mutation_p.E509K|HECTD1_uc001wrb.1_Missense_Mutation_p.E509K	p.E2383K	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	38	7636	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2383			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.7147G>A	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.57|18.57	3.653141|3.653141	0.67472|0.67472	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332|ENST00000554882	T;T|.	0.41400|.	1.0;1.0|.	5.81|5.81	5.81|5.81	0.92471|0.92471	HECT (4);|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.76666|0.76666	0.4019|0.4019	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D|.	0.57257|.	0.979|.	D|.	0.71414|.	0.973|.	T|T	0.74241|0.74241	-0.3729|-0.3729	10|5	0.45353|.	T|.	0.12|.	-8.8753|-8.8753	20.0695|20.0695	0.97716|0.97716	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2383|.	Q9ULT8|.	HECD1_HUMAN|.	K|I	2383;2385;2383|748	ENSP00000450697:E2383K;ENSP00000382269:E2383K|.	ENSP00000261312:E2385K|.	E|M	-|-	1|3	0|0	HECTD1|HECTD1	30645682|30645682	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.484000|7.484000	0.81180|0.81180	2.738000|2.738000	0.93877|0.93877	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.378	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1				8	50	0	0	0	0.00308	0	8	50		
HECTD1	25831	broad.mit.edu	37	14	31598386	31598386	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:31598386G>A	ENST00000399332.1	-	25	4679	c.4191C>T	c.(4189-4191)atC>atT	p.I1397I	HECTD1_ENST00000553700.1_Silent_p.I1397I	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1397	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AACCCAAGCTGATGTCGCTGC	0.458																																						uc001wrc.1		NaN																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(4189-4191)ATC>ATT		HECT domain containing 1							186.0	182.0	183.0					14																	31598386		2060	4207	6267	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31598386G>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4191C>T	14.37:g.31598386G>A						HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Silent_p.I865I	p.I1397I	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	25	4680	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1397			Ser-rich.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.4191C>T	CCDS41939.1																																																																																				0.458	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1				12	183	0	0	0	0.003163	0	12	183		
SOS2	6655	broad.mit.edu	37	14	50671004	50671004	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:50671004C>G	ENST00000216373.5	-	2	485	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	SOS2_ENST00000543680.1_Missense_Mutation_p.E71Q	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	71					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATTTTTACCTCTACATCTTGA	0.313																																						uc001wxs.3		NaN																	0				ovary(2)	2						c.(211-213)GAG>CAG		son of sevenless homolog 2							145.0	153.0	150.0					14																	50671004		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50671004C>G	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.211G>C	14.37:g.50671004C>G	ENSP00000216373:p.Glu71Gln					SOS2_uc010tql.1_Missense_Mutation_p.E71Q	p.E71Q	NM_006939	NP_008870	Q07890	SOS2_HUMAN			2	309	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		71					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.211G>C	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332628	0.81801	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.85171	-1.95;-1.95	5.49	5.49	0.81192	Histone-fold (1);	0.000000	0.85682	D	0.000000	D	0.92893	0.7739	M	0.83118	2.625	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.67382	0.904;0.951	D	0.93386	0.6747	10	0.87932	D	0	.	19.7434	0.96241	0.0:1.0:0.0:0.0	.	71;71	B7ZKT6;Q07890	.;SOS2_HUMAN	Q	71	ENSP00000216373:E71Q;ENSP00000445328:E71Q	ENSP00000216373:E71Q	E	-	1	0	SOS2	49740754	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.772000	0.85439	2.716000	0.92895	0.591000	0.81541	GAG		0.313	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2				16	158	0	0	0	0.012319	0	16	158		
PPP2R5E	5529	broad.mit.edu	37	14	63888788	63888788	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:63888788G>A	ENST00000337537.3	-	4	981	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.L127F|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.L51F	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	127					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.L127V(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTAGGAGGGAGAGTTCTGAAT	0.423																																						uc001xgd.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(379-381)CTC>TTC		epsilon isoform of regulatory subunit B56,							140.0	121.0	127.0					14																	63888788		2203	4300	6503	SO:0001583	missense	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63888788G>A	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.379C>T	14.37:g.63888788G>A	ENSP00000337641:p.Leu127Phe					PPP2R5E_uc010tsf.1_Missense_Mutation_p.L51F|PPP2R5E_uc010tsg.1_Missense_Mutation_p.L51F|PPP2R5E_uc001xge.2_Missense_Mutation_p.L127F|PPP2R5E_uc010tsh.1_Missense_Mutation_p.L127F|PPP2R5E_uc001xgf.1_RNA	p.L127F	NM_006246	NP_006237	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	4	969	-			127					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	c.379C>T	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602620	0.87157	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.41	5.41	0.78517	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.85130	0.882;0.997	T	0.80511	-0.1350	9	0.87932	D	0	-5.5609	17.9569	0.89072	0.0:0.0:1.0:0.0	.	127;127	B7ZKK9;Q16537	.;2A5E_HUMAN	F	127;127;51	.	ENSP00000337641:L127F	L	-	1	0	PPP2R5E	62958541	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.972000	0.88022	2.530000	0.85305	0.591000	0.81541	CTC		0.423	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1		NM_006246		8	72	0	0	0	0.010729	0	8	72		
SYNE2	23224	broad.mit.edu	37	14	64457211	64457211	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:64457211C>G	ENST00000344113.4	+	20	2608	c.2396C>G	c.(2395-2397)tCa>tGa	p.S799*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.S799*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.S799*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	799					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAAAATATTTCAAGCCAGGAG	0.353																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(2395-2397)TCA>TGA		spectrin repeat containing, nuclear envelope 2							107.0	103.0	104.0					14																	64457211		1836	4102	5938	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64457211C>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2396C>G	14.37:g.64457211C>G	ENSP00000341781:p.Ser799*					SYNE2_uc001xgl.2_Nonsense_Mutation_p.S799*	p.S799*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	20	2626	+			799			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.2396C>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	38	6.648637	0.97734	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.39	2.53	0.30540	.	0.157205	0.29822	N	0.011102	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	5.7902	0.18357	0.0:0.6637:0.1589:0.1774	.	.	.	.	X	799	.	ENSP00000261678:S799X	S	+	2	0	SYNE2	63526964	0.991000	0.36638	0.841000	0.33234	0.549000	0.35272	1.510000	0.35790	0.644000	0.30656	-0.302000	0.09304	TCA		0.353	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		8	94	0	0	0	0.004482	0	8	94		
SPTB	6710	broad.mit.edu	37	14	65220341	65220341	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:65220341C>T	ENST00000556626.1	-	33	6658	c.6516G>A	c.(6514-6516)ccG>ccA	p.P2172P	SPTB_ENST00000389722.3_Silent_p.P2172P|SPTB_ENST00000342835.4_5'UTR			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATGGTCCCGCGGGGCCGGCA	0.627																																						uc001xhr.2		NaN																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(6514-6516)CCG>CCA		spectrin beta isoform a							86.0	92.0	90.0					14																	65220341		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65220341C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6516G>A	14.37:g.65220341C>T						SPTB_uc001xhs.2_Silent_p.P2172P|SPTB_uc010aqi.2_Silent_p.P833P	p.P2172P	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	32	6570	-		all_lung(585;4.15e-09)	Error:Variant_position_missing_in_P11277_after_alignment					Q15510|Q15519	Silent	SNP	ENST00000556626.1	37	c.6516G>A	CCDS32099.1																																																																																				0.627	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414076.1				12	140	0	0	0	0.004007	0	12	140		
FUT8	2530	broad.mit.edu	37	14	66208977	66208977	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:66208977G>C	ENST00000360689.5	+	11	3304	c.1577G>C	c.(1576-1578)gGa>gCa	p.G526A	FUT8_ENST00000394585.1_Missense_Mutation_p.G526A|FUT8_ENST00000358307.2_Missense_Mutation_p.G397A|FUT8_ENST00000417683.1_Missense_Mutation_p.G120A|FUT8_ENST00000394586.2_Missense_Mutation_p.G526A|FUT8_ENST00000557164.1_Missense_Mutation_p.G363A	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	526	SH3.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ATGGAACCTGGAGATATCATT	0.453																																						uc001xin.2		NaN																	0				ovary(1)	1						c.(1576-1578)GGA>GCA		fucosyltransferase 8 isoform a							134.0	132.0	133.0					14																	66208977		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66208977G>C	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1577G>C	14.37:g.66208977G>C	ENSP00000353910:p.Gly526Ala					FUT8_uc001xio.2_Missense_Mutation_p.G526A|FUT8_uc010tsp.1_Missense_Mutation_p.G363A|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.G526A|FUT8_uc001xiq.2_Missense_Mutation_p.G397A|FUT8_uc001xis.2_Missense_Mutation_p.G120A	p.G526A	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	2774	+			526			SH3.|Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.1577G>C	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886842	0.72410	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307;ENST00000417683	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	6.04	5.15	0.70609	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	D	0.87261	0.6133	H	0.95982	3.75	0.80722	D	1	D;D;D	0.76494	0.997;0.982;0.999	P;P;D	0.80764	0.871;0.521;0.994	D	0.91341	0.5097	10	0.87932	D	0	-21.6037	15.1371	0.72576	0.0:0.1421:0.8579:0.0	.	120;397;526	Q8IUA5;G3XAD2;Q9BYC5	.;.;FUT8_HUMAN	A	526;526;363;526;397;120	ENSP00000353910:G526A;ENSP00000378087:G526A;ENSP00000452433:G363A;ENSP00000378086:G526A;ENSP00000351057:G397A;ENSP00000396770:G120A	ENSP00000351057:G397A	G	+	2	0	FUT8	65278730	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.942000	0.87708	1.553000	0.49476	-0.300000	0.09419	GGA		0.453	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1		NM_004480		13	128	0	0	0	0.006122	0	13	128		
TTC9	23508	broad.mit.edu	37	14	71137851	71137851	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:71137851G>A	ENST00000256367.2	+	3	991	c.648G>A	c.(646-648)caG>caA	p.Q216Q		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	216										skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GATGCTCCCAGAGAGAAAAAG	0.567																																						uc001xmi.2		NaN																	0					0						c.(646-648)CAG>CAA		tetratricopeptide repeat domain 9							78.0	75.0	76.0					14																	71137851		1922	4125	6047	SO:0001819	synonymous_variant	23508						binding	g.chr14:71137851G>A	D86980	CCDS45132.1	14q24.2	2014-08-12			ENSG00000133985			"""Tetratricopeptide (TTC) repeat domain containing"""	20267	protein-coding gene	gene with protein product		610488					Standard	NM_015351		Approved	KIAA0227, TTC9A	uc001xmi.2	Q92623	OTTHUMG00000172133	ENST00000256367.2:c.648G>A	14.37:g.71137851G>A							p.Q216Q	NM_015351	NP_056166	Q92623	TTC9A_HUMAN		all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)	3	991	+			216					Q86WT2	Silent	SNP	ENST00000256367.2	37	c.648G>A	CCDS45132.1																																																																																				0.567	TTC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417024.1		XM_027236		6	37	0	0	0	0.00308	0	6	37		
NRXN3	9369	broad.mit.edu	37	14	79270147	79270147	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:79270147C>G	ENST00000554719.1	+	6	1601	c.1110C>G	c.(1108-1110)gtC>gtG	p.V370V	NRXN3_ENST00000335750.5_Silent_p.V370V	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	148					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGGGGCGTGTCAAGCTCATGG	0.522																																						uc001xun.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1108-1110)GTC>GTG		neurexin 3 isoform 1 precursor							100.0	85.0	90.0					14																	79270147		2203	4300	6503	SO:0001819	synonymous_variant	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79270147C>G	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1110C>G	14.37:g.79270147C>G						NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.V504V	p.V370V	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	6	1601	+		Renal(4;0.00876)	743			Laminin G-like 4.|Extracellular (Potential).		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000554719.1	37	c.1110C>G	CCDS9870.1																																																																																				0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1		NM_001105250		5	42	0	0	0	0.000602	0	5	42		
TSHR	7253	broad.mit.edu	37	14	81609311	81609311	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:81609311G>C	ENST00000541158.2	+	11	1231	c.909G>C	c.(907-909)gaG>gaC	p.E303D	TSHR_ENST00000298171.2_Missense_Mutation_p.E303D|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	303					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.E303E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGTGTAATGAGAGCAGTATGC	0.502			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1		NaN	yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		1	Substitution - coding silent(1)		prostate(1)	thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(907-909)GAG>GAC		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)						115.0	110.0	112.0					14																	81609311		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609311G>C	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.909G>C	14.37:g.81609311G>C	ENSP00000441235:p.Glu303Asp						p.E303D	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	1065	+			303			Extracellular (Potential).		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.909G>C	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	7.342	0.621118	0.14193	.	.	ENSG00000165409	ENST00000541158;ENST00000298171	T;T	0.74947	-0.89;-0.89	6.08	-0.117	0.13551	.	0.326428	0.37669	N	0.001997	T	0.38401	0.1039	N	0.01576	-0.805	0.24712	N	0.99319	B	0.06786	0.001	B	0.09377	0.004	T	0.32561	-0.9902	10	0.13470	T	0.59	.	6.4904	0.22113	0.2925:0.2046:0.5029:0.0	.	303	F5GYU5	.	D	303	ENSP00000441235:E303D;ENSP00000298171:E303D	ENSP00000298171:E303D	E	+	3	2	TSHR	80679064	0.956000	0.32656	0.981000	0.43875	0.974000	0.67602	-0.007000	0.12810	-0.050000	0.13356	0.655000	0.94253	GAG		0.502	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1		NM_000369		6	92	0	0	0	0.004482	0	6	92		
STON2	85439	broad.mit.edu	37	14	81744768	81744768	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:81744768G>A	ENST00000267540.2	-	4	1087	c.887C>T	c.(886-888)tCt>tTt	p.S296F	STON2_ENST00000555447.1_Missense_Mutation_p.S296F|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	296					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GCGGTTTAAAGAGGAAATATC	0.468																																						uc010tvu.1		NaN																	0				skin(3)|pancreas(2)	5						c.(886-888)TCT>TTT		stonin 2							121.0	125.0	123.0					14																	81744768		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744768G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.887C>T	14.37:g.81744768G>A	ENSP00000267540:p.Ser296Phe					STON2_uc001xvk.1_Missense_Mutation_p.S296F|STON2_uc010tvt.1_Missense_Mutation_p.S93F	p.S296F	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	1088	-			296					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.887C>T	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404378	0.42613	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.55760	0.5;0.5	6.17	6.17	0.99709	Stonin-2, N-terminal (1);	0.075212	0.56097	D	0.000022	T	0.66297	0.2775	L	0.56769	1.78	0.38270	D	0.94212	P;P	0.51933	0.949;0.937	P;P	0.54210	0.745;0.628	T	0.68070	-0.5506	10	0.72032	D	0.01	-19.3142	20.8794	0.99867	0.0:0.0:1.0:0.0	.	296;296	Q8WXE9;G3V2T7	STON2_HUMAN;.	F	296;308;296	ENSP00000450857:S296F;ENSP00000267540:S296F	ENSP00000267540:S296F	S	-	2	0	STON2	80814521	1.000000	0.71417	0.976000	0.42696	0.227000	0.25037	5.307000	0.65762	2.941000	0.99782	0.655000	0.94253	TCT		0.468	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1		NM_033104		7	97	0	0	0	0.00308	0	7	97		
SERPINA6	866	broad.mit.edu	37	14	94780794	94780794	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:94780794G>A	ENST00000341584.3	-	2	338	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	64					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CAGGGGAGATGAAAATGTTCT	0.552																																						uc001ycv.2		NaN																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(190-192)TTC>TTT		corticosteroid binding globulin precursor	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						98.0	98.0	98.0					14																	94780794		2203	4300	6503	SO:0001819	synonymous_variant	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780794G>A	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.192C>T	14.37:g.94780794G>A						SERPINA6_uc010auv.2_RNA	p.F64F	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	296	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	64					A8K456|Q7Z2Q9	Silent	SNP	ENST00000341584.3	37	c.192C>T	CCDS9924.1																																																																																				0.552	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1		NM_001756		7	44	0	0	0	0.004482	0	7	44		
SERPINA3	12	broad.mit.edu	37	14	95080900	95080900	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:95080900G>A	ENST00000467132.1	+	2	1270	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	SERPINA3_ENST00000393080.4_Missense_Mutation_p.R41Q|SERPINA3_ENST00000393078.3_Missense_Mutation_p.R41Q|RP11-986E7.7_ENST00000553947.1_3'UTR			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	41					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AACCAAGACCGAGGGACACAC	0.582																																						uc001ydp.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6						c.(121-123)CGA>CAA		serpin peptidase inhibitor, clade A, member 3							118.0	116.0	117.0					14																	95080900		2203	4300	6503	SO:0001583	missense	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95080900G>A	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.122G>A	14.37:g.95080900G>A	ENSP00000450540:p.Arg41Gln					SERPINA3_uc001ydo.3_Missense_Mutation_p.R66Q|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.R41Q|SERPINA3_uc001yds.2_Missense_Mutation_p.R41Q|SERPINA3_uc010avg.2_Missense_Mutation_p.R41Q	p.R41Q	NM_001085	NP_001076	P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	2	201	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	41					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	ENST00000467132.1	37	c.122G>A	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418094	0.25552	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000380354	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	4.42	-5.11	0.02901	Serpin domain (1);	3.988340	0.01188	N	0.007251	T	0.73659	0.3615	N	0.08118	0	0.09310	N	1	B;B	0.18310	0.027;0.007	B;B	0.11329	0.006;0.001	T	0.64618	-0.6365	10	0.59425	D	0.04	.	8.1745	0.31275	0.3681:0.1303:0.5016:0.0	.	41;66	P01011;G3V5I3	AACT_HUMAN;.	Q	66;41;41;41;41;41	ENSP00000452367:R66Q;ENSP00000376793:R41Q;ENSP00000376795:R41Q;ENSP00000450540:R41Q	ENSP00000369712:R41Q	R	+	2	0	SERPINA3	94150653	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.762000	0.01803	-0.389000	0.07786	-0.459000	0.05422	CGA		0.582	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3		NM_001085		13	123	0	0	0	0.004007	0	13	123		
AK7	122481	broad.mit.edu	37	14	96912869	96912869	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:96912869C>T	ENST00000267584.4	+	8	839	c.795C>T	c.(793-795)gtC>gtT	p.V265V		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	265					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TACAAAACGTCATAGATCACG	0.443																																						uc001yfn.2		NaN																	0				ovary(1)	1						c.(793-795)GTC>GTT		adenylate kinase 7							202.0	159.0	173.0					14																	96912869		2203	4300	6503	SO:0001819	synonymous_variant	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96912869C>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.795C>T	14.37:g.96912869C>T							p.V265V	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	8	839	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	265			Potential.		Q8IYP6	Silent	SNP	ENST00000267584.4	37	c.795C>T	CCDS9945.1																																																																																				0.443	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1				5	70	0	0	0	0.00308	0	5	70		
SLC25A47	283600	broad.mit.edu	37	14	100795964	100795964	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:100795964C>T	ENST00000361529.3	+	6	987	c.909C>T	c.(907-909)gcC>gcT	p.A303A	SLC25A47_ENST00000557052.1_Silent_p.A157A	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	303					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TGAGGCTCGCCCGGGGTCTGC	0.652																																					GBM(11;1289 1351)	uc001yhc.2		NaN																	0					0						c.(907-909)GCC>GCT		chromosome 14 open reading frame 68							66.0	74.0	71.0					14																	100795964		2203	4300	6503	SO:0001819	synonymous_variant	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100795964C>T		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.909C>T	14.37:g.100795964C>T						C14orf68_uc001yhd.2_Silent_p.A157A	p.A303A	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN			6	982	+		Melanoma(154;0.152)	303					B2RP39|Q68CL2|Q6PZD8|Q86U14	Silent	SNP	ENST00000361529.3	37	c.909C>T	CCDS9959.1																																																																																				0.652	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1				24	110	0	0	0	0.007291	0	24	110		
DYNC1H1	1778	broad.mit.edu	37	14	102516520	102516520	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:102516520G>C	ENST00000360184.4	+	77	13961	c.13797G>C	c.(13795-13797)gaG>gaC	p.E4599D	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4599					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAAACACCGAGAAGAAGGCCA	0.592																																						uc001yks.2		NaN																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(13795-13797)GAG>GAC		cytoplasmic dynein 1 heavy chain 1							86.0	77.0	80.0					14																	102516520		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102516520G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13797G>C	14.37:g.102516520G>C	ENSP00000348965:p.Glu4599Asp						p.E4599D	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			77	13961	+			4599					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.13797G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	9.673	1.147331	0.21288	.	.	ENSG00000197102	ENST00000360184	T	0.08807	3.05	5.42	5.42	0.78866	Dynein heavy chain (1);	0.054998	0.64402	D	0.000001	T	0.06416	0.0165	N	0.22421	0.69	0.58432	D	0.999993	B	0.11235	0.004	B	0.11329	0.006	T	0.35450	-0.9788	10	0.12103	T	0.63	.	14.0059	0.64463	0.0:0.0:0.8112:0.1887	.	4599	Q14204	DYHC1_HUMAN	D	4599	ENSP00000348965:E4599D	ENSP00000348965:E4599D	E	+	3	2	DYNC1H1	101586273	1.000000	0.71417	0.981000	0.43875	0.202000	0.24057	1.837000	0.39201	2.551000	0.86045	0.491000	0.48974	GAG		0.592	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376		5	62	0	0	0	0.001168	0	5	62		
CYFIP1	23191	broad.mit.edu	37	15	22929848	22929848	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:22929848G>A	ENST00000313077.7	+	6	647	c.522G>A	c.(520-522)ctG>ctA	p.L174L	CYFIP1_ENST00000560848.1_Silent_p.L174L	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGACGAGCTGAAGAACATGA	0.582																																						uc001yus.2		NaN																	0				ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(520-522)CTG>CTA		cytoplasmic FMR1 interacting protein 1 isoform							129.0	98.0	109.0					15																	22929848		2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22929848G>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.522G>A	15.37:g.22929848G>A						CYFIP1_uc001yut.2_Silent_p.L174L|CYFIP1_uc010aya.1_Silent_p.L202L	p.L174L	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	6	626	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	174						Silent	SNP	ENST00000313077.7	37	c.522G>A	CCDS10009.1																																																																																				0.582	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2		NM_014608		7	54	0	0	0	0.006214	0	7	54		
UBE3A	7337	broad.mit.edu	37	15	25601128	25601128	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:25601128T>C	ENST00000397954.2	-	7	2043	c.2044A>G	c.(2044-2046)Ata>Gta	p.I682V	UBE3A_ENST00000232165.3_Missense_Mutation_p.I679V|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.I659V|UBE3A_ENST00000566215.1_Missense_Mutation_p.I659V|UBE3A_ENST00000428984.2_Missense_Mutation_p.I659V			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	682					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GTCTGTGATATCTGGAAAGTG	0.323																																						uc001zaq.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(2044-2046)ATA>GTA		ubiquitin protein ligase E3A isoform 2							171.0	168.0	169.0					15																	25601128		2203	4298	6501	SO:0001583	missense	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25601128T>C	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2044A>G	15.37:g.25601128T>C	ENSP00000381045:p.Ile682Val					uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.I659V|UBE3A_uc001zas.2_Missense_Mutation_p.I679V|UBE3A_uc001zat.2_Missense_Mutation_p.I659V	p.I682V	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	7	2044	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	682					A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.2044A>G	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924693	0.52653	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.89	5.89	0.94794	HECT (4);	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	N	0.05177	-0.1	0.80722	D	1	B;P	0.35401	0.042;0.499	B;B	0.36922	0.049;0.236	T	0.26155	-1.0111	10	0.16420	T	0.52	.	16.3127	0.82898	0.0:0.0:0.0:1.0	.	679;682	Q05086-3;Q05086	.;UBE3A_HUMAN	V	679;679;682;659;659	ENSP00000232165:I679V;ENSP00000381045:I682V;ENSP00000411258:I659V;ENSP00000401265:I659V	ENSP00000232165:I679V	I	-	1	0	UBE3A	23152221	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.246000	0.74042	0.533000	0.62120	ATA		0.323	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1		NM_000462		7	137	0	0	0	0.00308	0	7	137		
RYR3	6263	broad.mit.edu	37	15	34015011	34015011	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:34015011G>A	ENST00000389232.4	+	44	6785	c.6715G>A	c.(6715-6717)Ggg>Agg	p.G2239R	Y_RNA_ENST00000363138.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.G2239R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2239	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.G2239W(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGGGGAAACGGGCTCTTGGC	0.572																																						uc001zhi.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6715-6717)GGG>AGG		ryanodine receptor 3							84.0	93.0	90.0					15																	34015011		1974	4145	6119	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34015011G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6715G>A	15.37:g.34015011G>A	ENSP00000373884:p.Gly2239Arg					RYR3_uc010bar.2_Missense_Mutation_p.G2239R	p.G2239R	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	44	6785	+		all_lung(180;7.18e-09)	2239			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6715G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086456	0.76642	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.99674	-6.36;-6.36	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97440	1.0021	10	0.87932	D	0	.	18.336	0.90288	0.0:0.0:1.0:0.0	.	2239;2239	Q15413-2;Q15413	.;RYR3_HUMAN	R	2239	ENSP00000373884:G2239R;ENSP00000399610:G2239R	ENSP00000354735:G2239R	G	+	1	0	RYR3	31802303	1.000000	0.71417	0.344000	0.25628	0.265000	0.26407	9.601000	0.98297	2.553000	0.86117	0.555000	0.69702	GGG		0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				23	117	0	0	0	0.00333	0	23	117		
PLCB2	5330	broad.mit.edu	37	15	40586548	40586548	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:40586548G>A	ENST00000260402.3	-	19	2229	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	PLCB2_ENST00000456256.2_Silent_p.F660F|PLCB2_ENST00000557821.1_Silent_p.F656F	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	660	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCCGGCGCATGAACTCATGCT	0.592																																						uc001zld.2		NaN																	0				ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(1978-1980)TTC>TTT		phospholipase C, beta 2							71.0	77.0	75.0					15																	40586548		2158	4256	6414	SO:0001819	synonymous_variant	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40586548G>A		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1980C>T	15.37:g.40586548G>A						PLCB2_uc010bbo.2_Silent_p.F656F|PLCB2_uc010ucm.1_Silent_p.F660F	p.F660F	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	19	2281	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	660			PI-PLC Y-box.		A8K6J2|B9EGH5	Silent	SNP	ENST00000260402.3	37	c.1980C>T	CCDS42020.1																																																																																				0.592	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1				18	50	0	0	0	0.008871	0	18	50		
INO80	54617	broad.mit.edu	37	15	41313219	41313219	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:41313219C>T	ENST00000361937.3	-	26	3577	c.3153G>A	c.(3151-3153)ttG>ttA	p.L1051L	RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Silent_p.L1051L			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1051	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						GGGCCCCATTCAACAAACACT	0.527																																						uc001zni.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(3151-3153)TTG>TTA		INO80 complex homolog 1							86.0	79.0	81.0					15																	41313219		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.chr15:41313219C>T	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.3153G>A	15.37:g.41313219C>T						INO80_uc010ucu.1_RNA	p.L1051L	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			26	3366	-			1051			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	c.3153G>A	CCDS10071.1																																																																																				0.527	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553		10	57	0	0	0	0.001855	0	10	57		
PLA2G4B	100137049	broad.mit.edu	37	15	42134022	42134022	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:42134022G>A	ENST00000452633.1	+	9	848	c.496G>A	c.(496-498)Gag>Aag	p.E166K	JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.E397K|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.E397K|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.E397K|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.E166K			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	166					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TCCAGCCTCAGAGCACAGAGT	0.637																																						uc010bco.2		NaN																	0				large_intestine(1)	1						c.(496-498)GAG>AAG		phospholipase A2, group IVB							34.0	33.0	34.0					15																	42134022		2203	4300	6503	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42134022G>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.496G>A	15.37:g.42134022G>A	ENSP00000396045:p.Glu166Lys					JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.E397K|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.E397K|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank	p.E166K	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN			8	597	+			166					B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.496G>A	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	6.907	0.536858	0.13188	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.01474	5.17;4.85;5.08;5.08	4.84	3.89	0.44902	.	0.616977	0.15170	N	0.276722	T	0.01661	0.0053	L	0.31207	0.915	0.09310	N	1	B;B;B	0.26809	0.002;0.16;0.152	B;B;B	0.29785	0.002;0.037;0.107	T	0.48658	-0.9016	10	0.15499	T	0.54	0.3441	6.8604	0.24064	0.0959:0.1805:0.7236:0.0	.	166;397;397	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	K	397;397;166;166	ENSP00000371886:E397K;ENSP00000342785:E397K;ENSP00000416610:E166K;ENSP00000396045:E166K	ENSP00000342785:E397K	E	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39921314	0.121000	0.22262	0.058000	0.19502	0.013000	0.08279	0.621000	0.24418	1.119000	0.41883	0.655000	0.94253	GAG		0.637	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1		NM_001114633		5	19	0	0	0	0.001168	0	5	19		
SLTM	79811	broad.mit.edu	37	15	59179635	59179635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:59179635C>T	ENST00000380516.2	-	18	2567	c.2480G>A	c.(2479-2481)aGa>aAa	p.R827K	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.R396K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	827	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCATTTCTTCTGGAGTCACT	0.463																																						uc002afp.2		NaN																	0				ovary(1)	1						c.(2479-2481)AGA>AAA		modulator of estrogen induced transcription							214.0	192.0	200.0					15																	59179635		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59179635C>T	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2480G>A	15.37:g.59179635C>T	ENSP00000369887:p.Arg827Lys					SLTM_uc002afn.2_Missense_Mutation_p.R369K|SLTM_uc002afo.2_Missense_Mutation_p.R809K|SLTM_uc002afq.2_Missense_Mutation_p.R396K|SLTM_uc010bgd.2_Missense_Mutation_p.R396K	p.R827K	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			18	2568	-			827			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.2480G>A	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	35	5.474956	0.96291	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.19532	2.14	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000018	T	0.43500	0.1250	L	0.55481	1.735	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.73380	0.98;0.979	T	0.08700	-1.0709	10	0.38643	T	0.18	.	19.2184	0.93786	0.0:1.0:0.0:0.0	.	827;396	Q9NWH9;A8K5V8	SLTM_HUMAN;.	K	827;393;396	ENSP00000369887:R827K	ENSP00000369887:R827K	R	-	2	0	SLTM	56966927	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.228000	0.65310	2.523000	0.85059	0.563000	0.77884	AGA		0.463	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1		NM_024755		17	71	0	0	0	0.007413	0	17	71		
CORO2B	10391	broad.mit.edu	37	15	69003924	69003924	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:69003924T>C	ENST00000566799.1	+	5	556	c.527T>C	c.(526-528)aTt>aCt	p.I176T	CORO2B_ENST00000543950.1_Missense_Mutation_p.I171T|CORO2B_ENST00000261861.5_Missense_Mutation_p.I171T|CORO2B_ENST00000540068.1_Missense_Mutation_p.I171T			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	176					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GTGAAGATGATTGACTGCCAC	0.592																																						uc002arj.3		NaN																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(526-528)ATT>ACT		coronin, actin binding protein, 2B							133.0	96.0	109.0					15																	69003924		2200	4298	6498	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69003924T>C	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.527T>C	15.37:g.69003924T>C	ENSP00000454783:p.Ile176Thr					CORO2B_uc010bic.2_Missense_Mutation_p.I171T|CORO2B_uc002ark.2_5'Flank	p.I176T	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN			5	556	+			176			WD 2.		A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.527T>C	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	T	25.0	4.596861	0.86953	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.60171	0.21;0.21	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.120364	0.85682	D	0.000000	T	0.77089	0.4079	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.80656	-0.1285	10	0.87932	D	0	-25.6249	15.1022	0.72288	0.0:0.0:0.0:1.0	.	176	Q9UQ03	COR2B_HUMAN	T	176;171;171	ENSP00000446250:I171T;ENSP00000443819:I171T	ENSP00000261861:I176T	I	+	2	0	CORO2B	66790978	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.946000	0.87746	2.156000	0.67533	0.459000	0.35465	ATT		0.592	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_006091		6	46	0	0	0	0.00308	0	6	46		
GRAMD2	196996	broad.mit.edu	37	15	72455648	72455648	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:72455648C>T	ENST00000309731.7	-	10	928	c.915G>A	c.(913-915)ctG>ctA	p.L305L	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	305						integral component of membrane (GO:0016021)		p.L305L(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CCCAGAGCCTCAGCTCCCCAG	0.562																																						uc002atq.2		NaN																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(913-915)CTG>CTA		GRAM domain containing 2							68.0	70.0	69.0					15																	72455648		2199	4297	6496	SO:0001819	synonymous_variant	196996					integral to membrane		g.chr15:72455648C>T	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.915G>A	15.37:g.72455648C>T						GRAMD2_uc010bis.2_Silent_p.L305L|GRAMD2_uc010ukh.1_Silent_p.L99L	p.L305L	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN			10	939	-			305					B3KT68	Silent	SNP	ENST00000309731.7	37	c.915G>A	CCDS32283.1																																																																																				0.562	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1		NM_001012642		6	53	0	0	0	0.00308	0	6	53		
CSPG4	1464	broad.mit.edu	37	15	75968309	75968309	+	Missense_Mutation	SNP	G	G	A	rs139798032	byFrequency	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:75968309G>A	ENST00000308508.5	-	10	6643	c.6551C>T	c.(6550-6552)aCg>aTg	p.T2184M	CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2184	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCCTGCTTCCGTCCGGGCGGC	0.687													G|||	4	0.000798722	0.0023	0.0	5008	,	,		16596	0.0		0.0	False		,,,				2504	0.001					uc002baw.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(6550-6552)ACG>ATG		chondroitin sulfate proteoglycan 4 precursor		G	MET/THR	5,4389	8.1+/-20.4	0,5,2192	23.0	26.0	25.0		6551	3.1	0.0	15	dbSNP_134	25	0,8586		0,0,4293	no	missense	CSPG4	NM_001897.4	81	0,5,6485	AA,AG,GG		0.0,0.1138,0.0385	possibly-damaging	2184/2323	75968309	5,12975	2197	4293	6490	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75968309G>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.6551C>T	15.37:g.75968309G>A	ENSP00000312506:p.Thr2184Met						p.T2184M	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			10	6644	-			2184			Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.6551C>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	G	7.368	0.626224	0.14257	0.001138	0.0	ENSG00000173546	ENST00000308508;ENST00000537176	T	0.20332	2.08	4.95	3.08	0.35506	.	0.401484	0.23142	N	0.051457	T	0.20129	0.0484	L	0.56769	1.78	0.09310	N	1	B	0.23185	0.081	B	0.16289	0.015	T	0.16276	-1.0408	10	0.54805	T	0.06	.	8.8919	0.35439	0.1728:0.0:0.8272:0.0	.	2184	Q6UVK1	CSPG4_HUMAN	M	2184;216	ENSP00000312506:T2184M	ENSP00000312506:T2184M	T	-	2	0	CSPG4	73755364	0.924000	0.31332	0.004000	0.12327	0.400000	0.30750	4.720000	0.61944	0.516000	0.28340	-0.291000	0.09656	ACG		0.687	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1		NM_001897		3	13	0	0	0	0.004672	0	3	13		
IL16	3603	broad.mit.edu	37	15	81552159	81552159	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr15:81552159C>A	ENST00000302987.4	+	2	359	c.359C>A	c.(358-360)gCa>gAa	p.A120E	IL16_ENST00000394660.2_Missense_Mutation_p.A120E			Q14005	IL16_HUMAN	interleukin 16	120					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A120E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAACTAGAAGCACAAAGTAGT	0.443																																						uc002bgh.3		NaN																	1	Substitution - Missense(1)	p.A120E(1)	ovary(1)	ovary(2)|lung(1)|skin(1)	4						c.(358-360)GCA>GAA		interleukin 16 isoform 2							84.0	84.0	84.0					15																	81552159		1891	4105	5996	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81552159C>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.359C>A	15.37:g.81552159C>A	ENSP00000302935:p.Ala120Glu					IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.A120E|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.A162E|IL16_uc002bgg.2_Missense_Mutation_p.A120E	p.A120E	NM_172217	NP_757366	Q14005	IL16_HUMAN			3	735	+			120					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.359C>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	7.910	0.736234	0.15574	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000302987	T;T	0.11385	2.78;2.78	4.52	3.61	0.41365	.	0.398331	0.18228	N	0.147651	T	0.12860	0.0312	M	0.63428	1.95	0.09310	N	0.999999	P;P	0.44429	0.745;0.835	B;P	0.44561	0.265;0.453	T	0.11665	-1.0578	10	0.24483	T	0.36	.	5.9329	0.19148	0.0:0.7006:0.1957:0.1037	.	120;120	Q14005;Q14005-2	IL16_HUMAN;.	E	120	ENSP00000378155:A120E;ENSP00000302935:A120E	ENSP00000302935:A120E	A	+	2	0	IL16	79339214	0.089000	0.21612	0.002000	0.10522	0.260000	0.26232	0.870000	0.28010	1.117000	0.41842	0.563000	0.77884	GCA		0.443	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1		NM_172217		11	53	1	0	9.31168e-06	0.001855	9.87104e-06	11	53		
SOX8	30812	broad.mit.edu	37	16	1035195	1035195	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:1035195G>A	ENST00000293894.3	+	3	1265	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	384					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GGGCGACTATGGCGACCTGCA	0.731																																						uc002ckn.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1150-1152)GGC>AGC		SRY (sex determining region Y)-box 8							15.0	17.0	17.0					16																	1035195		2191	4289	6480	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1035195G>A	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.1150G>A	16.37:g.1035195G>A	ENSP00000293894:p.Gly384Ser						p.G384S	NM_014587	NP_055402	P57073	SOX8_HUMAN			3	1265	+		Hepatocellular(780;0.00308)	384					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.1150G>A	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.679022	0.00751	.	.	ENSG00000005513	ENST00000293894	D	0.96300	-3.97	4.18	-2.56	0.06268	.	0.327065	0.35870	N	0.002939	T	0.80076	0.4557	N	0.00554	-1.385	0.18873	N	0.999989	B	0.02656	0.0	B	0.04013	0.001	T	0.75855	-0.3170	10	0.02654	T	1	.	10.3629	0.44006	0.7182:0.0:0.2818:0.0	.	384	P57073	SOX8_HUMAN	S	384	ENSP00000293894:G384S	ENSP00000293894:G384S	G	+	1	0	SOX8	975196	0.780000	0.28664	0.053000	0.19242	0.006000	0.05464	0.849000	0.27723	-0.782000	0.04541	-1.053000	0.02334	GGC		0.731	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1				5	15	0	0	0	0.000602	0	5	15		
UBE2I	7329	broad.mit.edu	37	16	1374763	1374763	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:1374763G>A	ENST00000355803.4	+	7	997	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	UBE2I_ENST00000325437.5_Missense_Mutation_p.R149Q|UBE2I_ENST00000397514.3_Missense_Mutation_p.R149Q|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000397515.2_Missense_Mutation_p.R149Q|UBE2I_ENST00000566587.1_Missense_Mutation_p.R149Q|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000406620.1_Missense_Mutation_p.R149Q|UBE2I_ENST00000403747.2_Missense_Mutation_p.R149Q	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	149					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				AAAAGGGTCCGAGCACAAGCC	0.522																																						uc002clc.1		NaN																	0				breast(1)|skin(1)	2						c.(445-447)CGA>CAA		ubiquitin-conjugating enzyme E2I							106.0	92.0	97.0					16																	1374763		2199	4300	6499	SO:0001583	missense	7329				cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity	g.chr16:1374763G>A	D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845	ENST00000355803.4:c.446G>A	16.37:g.1374763G>A	ENSP00000348056:p.Arg149Gln					UBE2I_uc002cld.1_Missense_Mutation_p.R149Q|UBE2I_uc002clf.1_Missense_Mutation_p.R149Q|UBE2I_uc002clg.1_Missense_Mutation_p.R149Q	p.R149Q	NM_194261	NP_919237	P63279	UBC9_HUMAN			7	550	+		Hepatocellular(780;0.00369)	149					D3DU69|P50550|Q15698|Q59GX1|Q86VB3	Missense_Mutation	SNP	ENST00000355803.4	37	c.446G>A	CCDS10433.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899435	0.72754	.	.	ENSG00000103275	ENST00000325437;ENST00000355803;ENST00000397514;ENST00000397515;ENST00000406620;ENST00000403747	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	4.89	3.94	0.45596	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.174519	0.38663	N	0.001615	T	0.36248	0.0960	M	0.81682	2.555	0.80722	D	1	B	0.34264	0.446	B	0.23852	0.049	T	0.32719	-0.9896	10	0.45353	T	0.12	.	10.9428	0.47283	0.0914:0.0:0.9086:0.0	.	149	P63279	UBC9_HUMAN	Q	149	ENSP00000324897:R149Q;ENSP00000348056:R149Q;ENSP00000380649:R149Q;ENSP00000380650:R149Q;ENSP00000384568:R149Q;ENSP00000385009:R149Q	ENSP00000324897:R149Q	R	+	2	0	UBE2I	1314764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.492000	0.97957	1.303000	0.44873	0.655000	0.94253	CGA		0.522	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250317.2		NM_003345		9	59	0	0	0	0.006214	0	9	59		
PKD1	5310	broad.mit.edu	37	16	2155953	2155953	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:2155953G>A	ENST00000262304.4	-	20	7984	c.7776C>T	c.(7774-7776)acC>acT	p.T2592T	PKD1_ENST00000423118.1_Silent_p.T2592T|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2592	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCACACTAGCGGTGAGCCCGT	0.662																																						uc002cos.1		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(7774-7776)ACC>ACT		polycystin 1 isoform 1 precursor							35.0	41.0	39.0					16																	2155953		1416	2512	3928	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2155953G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7776C>T	16.37:g.2155953G>A						PKD1_uc002cot.1_Silent_p.T2592T|PKD1_uc010bse.1_5'Flank	p.T2592T	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			20	7985	-			2592			Extracellular (Potential).|REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.7776C>T	CCDS32369.1																																																																																				0.662	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1				4	44	0	0	0	0.001168	0	4	44		
CLEC16A	23274	broad.mit.edu	37	16	11145497	11145497	+	Splice_Site	SNP	G	G	T	rs201433991		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:11145497G>T	ENST00000409790.1	+	18	2224	c.1994G>T	c.(1993-1995)cGg>cTg	p.R665L	CLEC16A_ENST00000409552.3_Splice_Site_p.R647L|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		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						AAGACCCGGCGGGTGAGTGAG	0.602																																						uc002dao.2		NaN																	1	Whole gene deletion(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(1)|central_nervous_system(1)	2						c.(1993-1995)CGG>CTG		C-type lectin domain family 16, member A							53.0	61.0	59.0					16																	11145497		2038	4180	6218	SO:0001630	splice_region_variant	23274							g.chr16:11145497G>T	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.1995+1G>T	16.37:g.11145497G>T						CLEC16A_uc002dan.3_Missense_Mutation_p.R647L	p.R665L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			18	2224	+			665						Missense_Mutation	SNP	ENST00000409790.1	37	c.1994G>T	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	34	5.352308	0.95830	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.56275	0.47	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.74053	0.3666	M	0.81497	2.545	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.991;0.994	T	0.77843	-0.2437	10	0.72032	D	0.01	-20.3759	16.4287	0.83833	0.0:0.0:1.0:0.0	.	665;647	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	L	665;665;647	ENSP00000387122:R665L	ENSP00000386495:R647L	R	+	2	0	CLEC16A	11052998	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.050000	0.76620	2.472000	0.83506	0.655000	0.94253	CGG		0.602	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2		NM_015226	Missense_Mutation	13	54	1	0	2.23348e-06	0.004007	2.3845e-06	13	54		
TXNDC11	51061	broad.mit.edu	37	16	11792094	11792094	+	Missense_Mutation	SNP	G	G	A	rs201331028		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:11792094G>A	ENST00000356957.3	-	8	1182	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	TXNDC11_ENST00000283033.5_Missense_Mutation_p.R332W			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	359					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCGTGTGGCCGCAGCCACCGA	0.527																																						uc010buu.1		NaN																	0					0						c.(1075-1077)CGG>TGG		thioredoxin domain containing 11		A	TRP/ARG	0,4394		0,0,2197	88.0	91.0	90.0		994	1.5	0.2	16		90	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TXNDC11	NM_015914.5	101	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign	332/959	11792094	2,12992	2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11792094G>A	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1075C>T	16.37:g.11792094G>A	ENSP00000349439:p.Arg359Trp					TXNDC11_uc002dbg.1_Missense_Mutation_p.R332W	p.R359W	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN			8	1137	-			359					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.1075C>T		.	.	.	.	.	.	.	.	.	.	g	12.01	1.809542	0.31961	0.0	2.33E-4	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.33438	1.41;1.41	5.87	1.47	0.22746	.	0.442567	0.26851	N	0.022172	T	0.25754	0.0627	L	0.57536	1.79	0.23341	N	0.997878	B;B	0.22211	0.009;0.066	B;B	0.17098	0.003;0.017	T	0.19516	-1.0303	10	0.52906	T	0.07	-19.2061	6.3914	0.21589	0.2729:0.0:0.6035:0.1236	.	359;332	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	W	359;332	ENSP00000349439:R359W;ENSP00000283033:R332W	ENSP00000283033:R332W	R	-	1	2	TXNDC11	11699595	1.000000	0.71417	0.242000	0.24170	0.537000	0.34900	2.578000	0.46051	0.062000	0.16340	-0.119000	0.15052	CGG		0.527	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1		NM_015914		3	75	0	0	0	0.009096	0	3	75		
KIAA0430	9665	broad.mit.edu	37	16	15706612	15706612	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:15706612C>G	ENST00000396368.3	-	17	3482	c.3276G>C	c.(3274-3276)aaG>aaC	p.K1092N	KIAA0430_ENST00000344181.3_Missense_Mutation_p.K694N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K1092N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.K927N|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000548025.1_Missense_Mutation_p.K1089N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.K1089N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1092					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTACAGGACTCTTCGAACGCA	0.468																																						uc002ddr.2		NaN																	0					0						c.(3274-3276)AAG>AAC		limkain b1							146.0	145.0	146.0					16																	15706612		1916	4129	6045	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15706612C>G	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3276G>C	16.37:g.15706612C>G	ENSP00000379654:p.Lys1092Asn					KIAA0430_uc002ddq.2_Missense_Mutation_p.K926N|KIAA0430_uc010uzv.1_Missense_Mutation_p.K1088N|KIAA0430_uc010uzw.1_Missense_Mutation_p.K1091N	p.K1092N	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			17	3469	-			1091					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.3276G>C	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784484	0.70222	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.45	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	L	0.51422	1.61	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.997;0.999;0.999;0.994	T	0.60637	-0.7224	9	0.17832	T	0.49	.	6.0463	0.19762	0.0:0.3246:0.0:0.6754	.	1091;1089;1088;1091	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	N	1092;927;1032;694;1089;1092;872	.	ENSP00000315718:K1032N	K	-	3	2	KIAA0430	15614113	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.489000	0.35562	0.910000	0.36722	-0.513000	0.04457	AAG		0.468	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2		NM_014647		14	137	0	0	0	0.006122	0	14	137		
MYH11	4629	broad.mit.edu	37	16	15813524	15813524	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:15813524G>A	ENST00000300036.5	-	35	5109	c.5000C>T	c.(4999-5001)tCc>tTc	p.S1667F	MYH11_ENST00000576790.2_Missense_Mutation_p.S1667F|MYH11_ENST00000452625.2_Missense_Mutation_p.S1674F|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.S1674F	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1667					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTCATCTCTGGAGGCACGGGC	0.507			T	CBFB	AML																																	uc002ddy.2		NaN		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(4999-5001)TCC>TTC		smooth muscle myosin heavy chain 11 isoform							159.0	142.0	148.0					16																	15813524		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15813524G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5000C>T	16.37:g.15813524G>A	ENSP00000300036:p.Ser1667Phe					MYH11_uc002ddv.2_Missense_Mutation_p.S1674F|MYH11_uc002ddw.2_Missense_Mutation_p.S1667F|MYH11_uc002ddx.2_Missense_Mutation_p.S1674F|MYH11_uc010bvg.2_Missense_Mutation_p.S1499F|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.S373F|NDE1_uc002ddz.1_5'Flank	p.S1667F	NM_002474	NP_002465	P35749	MYH11_HUMAN			35	5107	-			1667			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.5000C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425010	0.83667	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.19	5.19	0.71726	Myosin tail (1);	0.063684	0.64402	D	0.000007	D	0.88070	0.6338	M	0.81802	2.56	0.46749	D	0.999186	P;P;P;P;P	0.50369	0.934;0.723;0.723;0.723;0.847	D;P;P;P;P	0.63793	0.918;0.892;0.892;0.892;0.892	D	0.88943	0.3381	10	0.56958	D	0.05	.	17.7162	0.88337	0.0:0.0:1.0:0.0	.	1674;1667;1674;1667;1674	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	F	1667;1667;1674;1674;1674	ENSP00000300036:S1667F;ENSP00000345136:S1667F;ENSP00000379616:S1674F;ENSP00000407821:S1674F	ENSP00000300036:S1667F	S	-	2	0	MYH11	15721025	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	9.363000	0.97131	2.420000	0.82092	0.655000	0.94253	TCC		0.507	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2		NM_001040113		9	96	0	0	0	0.013537	0	9	96		
HIRIP3	8479	broad.mit.edu	37	16	30002499	30002499	+	IGR	SNP	G	G	A	rs138517482		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:30002499G>A	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Silent_p.L920L	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GCATGGCTCTGGGGGGCATCC	0.677																																						uc002dvc.1		NaN																	0				ovary(1)	1						c.(2758-2760)CTG>CTA		TAO kinase 2 isoform 1							57.0	61.0	59.0					16																	30002499		2197	4300	6497	SO:0001628	intergenic_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:30002499G>A	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30002499G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron	p.L920L	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN			19	3543	+			809			Glu-rich.		H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	c.2760G>A	CCDS10664.1																																																																																				0.677	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2		NM_003609		12	102	0	0	0	0.00245	0	12	102		
HSD3B7	80270	broad.mit.edu	37	16	30998197	30998197	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:30998197C>T	ENST00000297679.5	+	6	661	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	HSD3B7_ENST00000353250.5_Intron|AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000262520.6_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	190					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTGTGCCCTTCGTCCCACGGG	0.682																																						uc002eaf.2		NaN																	0					0						c.(568-570)CGT>TGT		hydroxy-delta-5-steroid dehydrogenase, 3 beta-							60.0	58.0	59.0					16																	30998197		2197	4300	6497	SO:0001583	missense	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30998197C>T	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.568C>T	16.37:g.30998197C>T	ENSP00000297679:p.Arg190Cys					HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Missense_Mutation_p.R190C	p.R190C	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN			6	674	+			190					Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	c.568C>T	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.804504	0.90623	.	.	ENSG00000099377	ENST00000297679	D	0.94497	-3.44	5.65	5.65	0.86999	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99050	1.0827	10	0.87932	D	0	-16.7868	18.4976	0.90870	0.0:1.0:0.0:0.0	.	190	Q9H2F3	3BHS7_HUMAN	C	190	ENSP00000297679:R190C	ENSP00000297679:R190C	R	+	1	0	HSD3B7	30905698	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.437000	0.52863	2.667000	0.90743	0.561000	0.74099	CGT		0.682	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2				4	49	0	0	0	0.009096	0	4	49		
FUS	2521	broad.mit.edu	37	16	31201394	31201394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:31201394C>A	ENST00000254108.7	+	11	1205	c.1100C>A	c.(1099-1101)tCa>tAa	p.S367*	FUS_ENST00000568685.1_Nonsense_Mutation_p.S368*|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Nonsense_Mutation_p.S366*	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	367	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ATCAAGGTCTCATTTGCTACT	0.478			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	uc002ebf.2		NaN		Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1		liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma	FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2)	0				soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2)	958						c.(1099-1101)TCA>TAA		fusion (involved in t(12;16) in malignant							68.0	65.0	66.0					16																	31201394		2197	4300	6497	SO:0001587	stop_gained	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31201394C>A	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1100C>A	16.37:g.31201394C>A	ENSP00000254108:p.Ser367*					FUS_uc002ebh.2_Nonsense_Mutation_p.S366*|FUS_uc002ebg.2_Nonsense_Mutation_p.S162*|FUS_uc002ebi.2_Nonsense_Mutation_p.S368*|FUS_uc002ebj.2_Nonsense_Mutation_p.S163*|FUS_uc010caj.1_Nonsense_Mutation_p.S58*	p.S367*	NM_004960	NP_004951	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	11	1183	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	367			RRM.		Q9H4A8	Nonsense_Mutation	SNP	ENST00000254108.7	37	c.1100C>A	CCDS10707.1	.	.	.	.	.	.	.	.	.	.	C	37	6.059402	0.97246	.	.	ENSG00000089280	ENST00000254108;ENST00000380244;ENST00000394533	.	.	.	5.22	5.22	0.72569	.	0.308670	0.30611	N	0.009250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7941	17.5407	0.87846	0.0:1.0:0.0:0.0	.	.	.	.	X	367;94;296	.	ENSP00000254108:S367X	S	+	2	0	FUS	31108895	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.427000	0.80284	2.425000	0.82216	0.591000	0.81541	TCA		0.478	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2		NM_004960		4	22	1	0	0.00024832	0.009096	0.000257326	4	22		
GNAO1	2775	broad.mit.edu	37	16	56388944	56388944	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:56388944C>G	ENST00000262493.6	+	8	1890	c.1044C>G	c.(1042-1044)ctC>ctG	p.L348L	RP11-441F2.5_ENST00000606772.1_RNA	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	348					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CCAACAACCTCCGGGGCTGCG	0.502																																						uc002eiu.3		NaN																	0				lung(1)|breast(1)	2						c.(1042-1044)CTC>CTG		guanine nucleotide binding protein, alpha							133.0	107.0	116.0					16																	56388944		2198	4300	6498	SO:0001819	synonymous_variant	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56388944C>G		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.1044C>G	16.37:g.56388944C>G							p.L348L	NM_020988	NP_066268	P09471	GNAO_HUMAN			8	1941	+		all_neural(199;0.159)	348					P29777|Q8TD72|Q9UMV4	Silent	SNP	ENST00000262493.6	37	c.1044C>G	CCDS10756.1																																																																																				0.502	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2		NM_020988		6	71	0	0	0	0.006214	0	6	71		
CNOT1	23019	broad.mit.edu	37	16	58576138	58576138	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:58576138C>T	ENST00000317147.5	-	33	5009	c.4677G>A	c.(4675-4677)ctG>ctA	p.L1559L	CNOT1_ENST00000569240.1_Silent_p.L1554L|CNOT1_ENST00000245138.4_Silent_p.L410L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1559	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTCTCACTTTCAGCCTGATTT	0.418																																						uc002env.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(4675-4677)CTG>CTA		CCR4-NOT transcription complex, subunit 1							92.0	86.0	88.0					16																	58576138		2198	4300	6498	SO:0001819	synonymous_variant	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58576138C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4677G>A	16.37:g.58576138C>T						CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.L1554L|CNOT1_uc010vik.1_Silent_p.L516L	p.L1559L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	33	4970	-			1559					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	c.4677G>A	CCDS10799.1																																																																																				0.418	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284		7	43	0	0	0	0.001984	0	7	43		
FHOD1	29109	broad.mit.edu	37	16	67265134	67265134	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:67265134G>C	ENST00000258201.4	-	17	2871	c.2624C>G	c.(2623-2625)tCt>tGt	p.S875C		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	875	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATAGAGGTCAGAGGACTCAGG	0.582																																						uc002esl.2		NaN																	0				breast(2)|ovary(1)	3						c.(2623-2625)TCT>TGT		formin homology 2 domain containing 1							71.0	62.0	65.0					16																	67265134		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67265134G>C	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2624C>G	16.37:g.67265134G>C	ENSP00000258201:p.Ser875Cys					FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Missense_Mutation_p.S682C	p.S875C	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	17	2736	-		Ovarian(137;0.0563)	875			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.2624C>G	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925484	0.52759	.	.	ENSG00000135723	ENST00000258201	T	0.64260	-0.09	5.39	4.44	0.53790	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.110597	0.64402	D	0.000005	T	0.76521	0.3999	M	0.72894	2.215	0.58432	D	0.999997	D	0.76494	0.999	D	0.77004	0.989	T	0.78907	-0.2019	10	0.72032	D	0.01	.	12.582	0.56394	0.0807:0.0:0.9193:0.0	.	875	Q9Y613	FHOD1_HUMAN	C	875	ENSP00000258201:S875C	ENSP00000258201:S875C	S	-	2	0	FHOD1	65822635	1.000000	0.71417	0.986000	0.45419	0.403000	0.30841	6.400000	0.73252	1.277000	0.44412	0.561000	0.74099	TCT		0.582	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2				7	46	0	0	0	0.00308	0	7	46		
FAM65A	79567	broad.mit.edu	37	16	67575769	67575769	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:67575769G>C	ENST00000379312.3	+	13	1213		c.e13-1		CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000422602.2_Splice_Site|FAM65A_ENST00000042381.4_Splice_Site|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Splice_Site|FAM65A_ENST00000540839.3_Splice_Site|CTD-2012K14.4_ENST00000564717.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTCTTTCTCAGAACATGCTGC	0.577																																						uc010vjp.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.e13-1		hypothetical protein LOC79567							70.0	73.0	72.0					16																	67575769		2198	4300	6498	SO:0001630	splice_region_variant	79567					cytoplasm	binding	g.chr16:67575769G>C	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1093-1G>C	16.37:g.67575769G>C						FAM65A_uc010cei.1_Splice_Site_p.N203_splice|FAM65A_uc002eth.2_Splice_Site_p.N361_splice|FAM65A_uc010cej.2_Splice_Site_p.N364_splice|FAM65A_uc002eti.1_Splice_Site_p.N324_splice|FAM65A_uc010vjq.1_Splice_Site_p.N375_splice|FAM65A_uc002etj.1_Splice_Site_p.N360_splice|FAM65A_uc002etk.2_Splice_Site_p.N360_splice	p.N381_splice	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	13	1237	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)						B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Splice_Site	SNP	ENST00000379312.3	37	c.1141_splice	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889504	0.52014	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839;ENST00000428437	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8029	0.63212	0.0763:0.0:0.9237:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM65A	66133270	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	6.439000	0.73430	2.377000	0.81083	0.498000	0.49722	.		0.577	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3		NM_024519	Intron	4	57	0	0	0	0.009096	0	4	57		
NFATC3	4775	broad.mit.edu	37	16	68160443	68160443	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:68160443G>A	ENST00000346183.3	+	3	1355	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.R444Q|NFATC3_ENST00000329524.4_Missense_Mutation_p.R444Q|NFATC3_ENST00000349223.5_Missense_Mutation_p.R444Q	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	444	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ACTCATCATCGAGCCCATTAT	0.443																																						uc002evo.1		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(1330-1332)CGA>CAA		nuclear factor of activated T-cells,							119.0	102.0	108.0					16																	68160443		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68160443G>A	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1331G>A	16.37:g.68160443G>A	ENSP00000300659:p.Arg444Gln					NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.R444Q|NFATC3_uc002evm.1_Missense_Mutation_p.R444Q|NFATC3_uc002evn.1_Missense_Mutation_p.R444Q|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	p.R444Q	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	3	1541	+		Ovarian(137;0.0563)	444			RHD.|		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.1331G>A	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	36	5.717678	0.96839	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.72505	-0.66;-0.66;-0.66	5.36	5.36	0.76844	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.86859	0.6034	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.993;0.998;0.993;0.993	D	0.88958	0.3391	10	0.87932	D	0	-7.3168	19.0866	0.93204	0.0:0.0:1.0:0.0	.	444;444;444;444	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Q	444	ENSP00000264008:R444Q;ENSP00000300659:R444Q;ENSP00000331324:R444Q	ENSP00000331324:R444Q	R	+	2	0	NFATC3	66717944	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.705000	0.98719	2.495000	0.84180	0.555000	0.69702	CGA		0.443	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2		NM_004555		7	74	0	0	0	0.00308	0	7	74		
VPS9D1	9605	broad.mit.edu	37	16	89775292	89775292	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr16:89775292C>A	ENST00000389386.3	-	13	1794	c.1670G>T	c.(1669-1671)gGg>gTg	p.G557V	VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1_ENST00000561976.1_Missense_Mutation_p.G487V|VPS9D1_ENST00000565452.1_5'Flank	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	557	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GGGCGGGGGCCCGGCCTGGGG	0.667																																						uc002fom.1		NaN																	0					0						c.(1669-1671)GGG>GTG		chromosome 16 open reading frame 7							9.0	11.0	10.0					16																	89775292		1884	4097	5981	SO:0001583	missense	9605				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity	g.chr16:89775292C>A	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1670G>T	16.37:g.89775292C>A	ENSP00000374037:p.Gly557Val					C16orf7_uc002fol.1_Missense_Mutation_p.G487V|uc002fon.1_5'Flank	p.G557V	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	13	1795	-		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	557			VPS9.			Missense_Mutation	SNP	ENST00000389386.3	37	c.1670G>T	CCDS42220.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601258	0.28534	.	.	ENSG00000075399	ENST00000389386	.	.	.	5.0	-0.948	0.10379	Vacuolar sorting protein 9 (2);	0.791124	0.10787	U	0.634207	T	0.38241	0.1033	M	0.80508	2.5	0.09310	N	1	B	0.30851	0.297	B	0.29176	0.099	T	0.37220	-0.9715	9	0.46703	T	0.11	-27.2713	2.8282	0.05491	0.1265:0.4184:0.2964:0.1587	.	557	Q9Y2B5	CP007_HUMAN	V	557	.	ENSP00000374037:G557V	G	-	2	0	C16orf7	88302793	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.444000	0.21661	-0.305000	0.08831	0.561000	0.74099	GGG		0.667	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1		NM_004913		5	19	1	0	2.7689e-08	0.001984	2.9988e-08	5	19		
ENO3	2027	broad.mit.edu	37	17	4859247	4859247	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:4859247C>T	ENST00000323997.6	+	9	1008	c.876C>T	c.(874-876)atC>atT	p.I292I	ENO3_ENST00000519584.1_Silent_p.I249I|ENO3_ENST00000518175.1_Silent_p.I292I	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	292					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGGTCTCCATCGAAGACCCCT	0.582																																						uc002gab.3		NaN																	0				ovary(1)	1						c.(874-876)ATC>ATT		enolase 3							158.0	154.0	155.0					17																	4859247		2203	4300	6503	SO:0001819	synonymous_variant	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4859247C>T	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.876C>T	17.37:g.4859247C>T						ENO3_uc002gac.3_Silent_p.I292I|ENO3_uc010vss.1_Silent_p.I249I|ENO3_uc010vst.1_Silent_p.I128I	p.I292I	NM_053013	NP_443739	P13929	ENOB_HUMAN			9	970	+			292					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Silent	SNP	ENST00000323997.6	37	c.876C>T	CCDS11062.1																																																																																				0.582	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2				29	234	0	0	0	0.003755	0	29	234		
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:7577085C>T	ENST00000269305.4	-	8	1042	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000420246.2_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	TTCTCTTCCTCTGTGCGCCGG	0.562		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		165	Substitution - Missense(115)|Substitution - Nonsense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1)	urinary_tract(53)|breast(18)|large_intestine(15)|lung(11)|upper_aerodigestive_tract(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(6)|oesophagus(6)|liver(6)|skin(5)|prostate(4)|bone(4)|biliary_tract(3)|ovary(3)|adrenal_gland(1)|soft_tissue(1)|eye(1)|pancreas(1)|thyroid(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM995136	TP53	M	rs112431538	c.(853-855)GAG>AAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							91.0	78.0	82.0					17																	7577085		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577085C>T	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.853G>A	17.37:g.7577085C>T	ENSP00000269305:p.Glu285Lys	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_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K	p.E285K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1047	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	285		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.853G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703759	0.88924	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.89904	3.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.994;0.983;0.994;0.998	D	0.96661	0.9489	10	0.87932	D	0	-38.0538	15.807	0.78520	0.0:1.0:0.0:0.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	285;285;285;285;285;274;153	ENSP00000352610:E285K;ENSP00000269305:E285K;ENSP00000398846:E285K;ENSP00000391127:E285K;ENSP00000391478:E285K;ENSP00000425104:E153K	ENSP00000269305:E285K	E	-	1	0	TP53	7517810	1.000000	0.71417	0.900000	0.35374	0.716000	0.41182	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		18	32	0	0	0	0.00499	0	18	32		
MYH2	4620	broad.mit.edu	37	17	10440759	10440759	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:10440759G>C	ENST00000245503.5	-	16	2072	c.1688C>G	c.(1687-1689)tCt>tGt	p.S563C	MYH2_ENST00000532183.2_Missense_Mutation_p.S563C|MYH2_ENST00000397183.2_Missense_Mutation_p.S563C|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	563	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAAGTTGGCAGACTTGCCCAG	0.532																																						uc010coi.2		NaN																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(1687-1689)TCT>TGT		myosin heavy chain IIa							124.0	123.0	123.0					17																	10440759		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10440759G>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1688C>G	17.37:g.10440759G>C	ENSP00000245503:p.Ser563Cys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.S563C|MYH2_uc010coj.2_Missense_Mutation_p.S563C	p.S563C	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			16	1816	-			563			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.1688C>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228244	0.39399	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.72942	-0.7;-0.7;-0.7	5.61	5.61	0.85477	Myosin head, motor domain (2);	0.000000	0.39083	U	0.001463	T	0.77928	0.4204	M	0.71206	2.165	0.41823	D	0.990038	D;B	0.55385	0.971;0.004	P;B	0.49597	0.616;0.026	T	0.80527	-0.1343	10	0.59425	D	0.04	.	18.6204	0.91319	0.0:0.0:1.0:0.0	.	563;563	Q567P6;Q9UKX2	.;MYH2_HUMAN	C	563	ENSP00000433944:S563C;ENSP00000245503:S563C;ENSP00000380367:S563C	ENSP00000245503:S563C	S	-	2	0	MYH2	10381484	1.000000	0.71417	0.961000	0.40146	0.841000	0.47740	3.816000	0.55658	2.652000	0.90054	0.655000	0.94253	TCT		0.532	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3		NM_017534		9	119	0	0	0	0.006214	0	9	119		
DNAH9	1770	broad.mit.edu	37	17	11522879	11522879	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:11522879C>G	ENST00000262442.4	+	6	1199	c.1131C>G	c.(1129-1131)ctC>ctG	p.L377L	DNAH9_ENST00000454412.2_Silent_p.L377L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	377	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTAATTATCTCAGCCCAGAAG	0.448																																						uc002gne.2		NaN																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(1129-1131)CTC>CTG		dynein, axonemal, heavy chain 9 isoform 2							106.0	107.0	107.0					17																	11522879		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11522879C>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1131C>G	17.37:g.11522879C>G							p.L377L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	6	1199	+		Breast(5;0.0122)|all_epithelial(5;0.131)	377			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.1131C>G	CCDS11160.1																																																																																				0.448	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372		6	93	0	0	0	0.004482	0	6	93		
TEKT3	64518	broad.mit.edu	37	17	15234758	15234758	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:15234758G>A	ENST00000395930.1	-	3	331	c.145C>T	c.(145-147)Cct>Tct	p.P49S	TEKT3_ENST00000338696.2_Missense_Mutation_p.P49S	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	49					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGTCTCCAAGGAAGGCTCAGG	0.542																																						uc002gon.2		NaN																	0				ovary(2)	2						c.(145-147)CCT>TCT		tektin 3							108.0	104.0	105.0					17																	15234758		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15234758G>A	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.145C>T	17.37:g.15234758G>A	ENSP00000379263:p.Pro49Ser						p.P49S	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	3	332	-			49					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.145C>T	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641238	0.29157	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000536146;ENST00000539316;ENST00000543896	T;T;T;T;T	0.54866	4.19;4.19;1.58;1.57;0.55	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	L	0.45698	1.435	0.58432	D	0.999997	B	0.25719	0.132	B	0.24006	0.05	T	0.38542	-0.9656	10	0.22706	T	0.39	0.7085	19.1495	0.93482	0.0:0.0:1.0:0.0	.	49	Q9BXF9	TEKT3_HUMAN	S	49	ENSP00000379263:P49S;ENSP00000343995:P49S;ENSP00000446111:P49S;ENSP00000439713:P49S;ENSP00000444180:P49S	ENSP00000343995:P49S	P	-	1	0	TEKT3	15175483	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.876000	0.63079	2.596000	0.87737	0.655000	0.94253	CCT		0.542	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2		NM_031898		4	30	0	0	0	0.009096	0	4	30		
ZNF286A	57335	broad.mit.edu	37	17	15604513	15604513	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:15604513G>C	ENST00000464847.2	+	2	638	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	ZNF286A_ENST00000395893.2_Missense_Mutation_p.E29Q|ZNF286A_ENST00000395894.2_Missense_Mutation_p.E29Q|ZNF286A_ENST00000581529.1_Missense_Mutation_p.E19Q|ZNF286A_ENST00000585194.1_Missense_Mutation_p.E29Q|ZNF286A_ENST00000593105.1_Missense_Mutation_p.E19Q|ZNF286A_ENST00000583566.1_Missense_Mutation_p.E29Q|ZNF286A_ENST00000421016.1_Missense_Mutation_p.E29Q|ZNF286A_ENST00000580259.1_Missense_Mutation_p.E29Q|ZNF286A_ENST00000472486.1_Missense_Mutation_p.E19Q|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000413242.2_Missense_Mutation_p.E29Q			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	29					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GAGCACAGAAGAGGGAGAAGT	0.498																																						uc010cot.2		NaN																	0				central_nervous_system(1)	1						c.(85-87)GAG>CAG		zinc finger protein 286							205.0	191.0	196.0					17																	15604513		2203	4298	6501	SO:0001583	missense	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15604513G>C	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.85G>C	17.37:g.15604513G>C	ENSP00000464218:p.Glu29Gln					ZNF286A_uc002goz.3_5'UTR|ZNF286A_uc010vwa.1_Missense_Mutation_p.E29Q|ZNF286A_uc002gpa.2_Missense_Mutation_p.E29Q	p.E29Q	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	3	481	+			29					B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	c.85G>C	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	.	14.51	2.555807	0.45487	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894;ENST00000395893	T;T;T;T	0.08193	3.45;3.12;5.35;5.47	3.63	2.62	0.31277	.	0.792948	0.10289	N	0.692553	T	0.06416	0.0165	N	0.19112	0.55	0.21915	N	0.999479	B	0.23377	0.084	B	0.23574	0.047	T	0.40117	-0.9580	10	0.34782	T	0.22	.	9.3917	0.38376	0.0:0.2203:0.7797:0.0	.	29	Q9HBT8	Z286A_HUMAN	Q	29;19;29;29	ENSP00000397163:E29Q;ENSP00000408168:E19Q;ENSP00000379231:E29Q;ENSP00000379230:E29Q	ENSP00000435872:E29Q	E	+	1	0	ZNF286A	15545238	0.888000	0.30383	0.978000	0.43139	0.955000	0.61496	1.244000	0.32778	0.793000	0.33875	0.555000	0.69702	GAG		0.498	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4		NM_020652		3	188	0	0	0	0.004672	0	3	188		
NCOR1	9611	broad.mit.edu	37	17	15967466	15967466	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:15967466C>T	ENST00000268712.3	-	35	5394	c.5137G>A	c.(5137-5139)Gag>Aag	p.E1713K	NCOR1_ENST00000395857.3_Missense_Mutation_p.E297K|NCOR1_ENST00000395851.1_Missense_Mutation_p.E1729K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1713	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		cgttccctctcAGCACTTGCA	0.517																																						uc002gpo.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(5137-5139)GAG>AAG		nuclear receptor co-repressor 1							104.0	89.0	94.0					17																	15967466		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15967466C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5137G>A	17.37:g.15967466C>T	ENSP00000268712:p.Glu1713Lys					NCOR1_uc002gpn.2_Missense_Mutation_p.E1729K|NCOR1_uc002gpm.2_Missense_Mutation_p.E233K|NCOR1_uc010vwb.1_Missense_Mutation_p.E297K|NCOR1_uc010coy.2_Missense_Mutation_p.E621K|NCOR1_uc010vwc.1_Missense_Mutation_p.E523K	p.E1713K	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	35	5377	-			1713			Interaction with ETO.|Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.5137G>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303389	0.40795	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.50277	0.75;0.75;0.75	5.49	5.49	0.81192	.	0.269767	0.37304	N	0.002151	T	0.59293	0.2183	L	0.42245	1.32	0.51233	D	0.99991	B;B;P;D;P	0.56035	0.034;0.113;0.956;0.974;0.743	B;B;D;D;B	0.67725	0.053;0.046;0.931;0.953;0.423	T	0.51965	-0.8638	10	0.27082	T	0.32	-12.7791	16.0679	0.80897	0.0:1.0:0.0:0.0	.	523;1617;1713;1729;233	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1	.;.;NCOR1_HUMAN;.;.	K	1713;1729;1617;297	ENSP00000268712:E1713K;ENSP00000379192:E1729K;ENSP00000379198:E297K	ENSP00000268712:E1713K	E	-	1	0	NCOR1	15908191	0.997000	0.39634	0.986000	0.45419	0.617000	0.37484	4.676000	0.61627	2.565000	0.86533	0.655000	0.94253	GAG		0.517	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311		3	67	0	0	0	0.009096	0	3	67		
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:16285788C>T	ENST00000395837.1	+	2	748	c.567C>T	c.(565-567)ccC>ccT	p.P189P	UBB_ENST00000302182.3_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000535788.1_Silent_p.P113P	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552																																					Melanoma(163;1126 3406 34901)	uc002gpx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(3)	3						c.(565-567)CCC>CCT		ubiquitin B precursor							55.0	59.0	58.0					17																	16285788		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285788C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.567C>T	17.37:g.16285788C>T						UBB_uc010vwe.1_Silent_p.P113P	p.P189P	NM_018955	NP_061828	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	705	+			189			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.567C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1		NM_018955		3	61	0	0	0	0.004672	0	3	61		
KIAA0100	9703	broad.mit.edu	37	17	26958554	26958554	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:26958554G>A	ENST00000528896.2	-	23	4316	c.4242C>T	c.(4240-4242)caC>caT	p.H1414H	KIAA0100_ENST00000389003.3_Silent_p.H1271H|RP11-192H23.7_ENST00000583787.1_RNA|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.H1271H	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1414						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGCTCAGCAGGTGGGTCTTTG	0.483																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(4240-4242)CAC>CAT		hypothetical protein LOC9703 precursor							111.0	76.0	88.0					17																	26958554		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26958554G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4242C>T	17.37:g.26958554G>A							p.H1414H	NM_014680	NP_055495	Q14667	K0100_HUMAN			23	4341	-	Lung NSC(42;0.00431)		1414					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.4242C>T	CCDS32595.1																																																																																				0.483	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		6	77	0	0	0	0.004482	0	6	77		
DHRS13	147015	broad.mit.edu	37	17	27228598	27228598	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:27228598C>T	ENST00000378895.4	-	3	409	c.283G>A	c.(283-285)Gac>Aac	p.D95N	DHRS13_ENST00000426464.2_Intron|DHRS13_ENST00000581974.1_5'Flank|DHRS13_ENST00000394901.3_Missense_Mutation_p.D45N|RP11-20B24.4_ENST00000579187.1_RNA|RP11-20B24.4_ENST00000580603.1_RNA	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	95						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTGGCCAAGTCCAAGGCCATG	0.602																																						uc002hde.3		NaN																	0					0						c.(283-285)GAC>AAC		dehydrogenase/reductase (SDR family) member 13							94.0	85.0	88.0					17																	27228598		2203	4300	6503	SO:0001583	missense	147015					extracellular region	binding|oxidoreductase activity	g.chr17:27228598C>T	BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.283G>A	17.37:g.27228598C>T	ENSP00000368173:p.Asp95Asn					DHRS13_uc002hdd.3_Missense_Mutation_p.D45N|DHRS13_uc010wba.1_Intron	p.D95N	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		3	410	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		95					Q96BH7	Missense_Mutation	SNP	ENST00000378895.4	37	c.283G>A	CCDS11246.2	.	.	.	.	.	.	.	.	.	.	C	36	5.713896	0.96830	.	.	ENSG00000167536	ENST00000378895;ENST00000394901	D;D	0.97811	-4.55;-4.55	5.6	5.6	0.85130	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99301	1.0901	10	0.52906	T	0.07	.	18.5964	0.91230	0.0:1.0:0.0:0.0	.	95	Q6UX07	DHR13_HUMAN	N	95;45	ENSP00000368173:D95N;ENSP00000378361:D45N	ENSP00000368173:D95N	D	-	1	0	DHRS13	24252724	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.256000	0.78350	2.642000	0.89623	0.555000	0.69702	GAC		0.602	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1		NM_144683		3	81	0	0	0	0.000602	0	3	81		
EFCAB5	374786	broad.mit.edu	37	17	28296147	28296147	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:28296147A>T	ENST00000394835.3	+	4	721	c.529A>T	c.(529-531)Aaa>Taa	p.K177*	EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.K121*|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.K177*|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.K177*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.K177*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	177							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTTGCTTGACAAACTTCTACC	0.378																																						uc002het.2		NaN																	0				ovary(1)|skin(1)	2						c.(529-531)AAA>TAA		EF-hand calcium binding domain 5 isoform a							44.0	43.0	43.0					17																	28296147		1839	4090	5929	SO:0001587	stop_gained	374786						calcium ion binding	g.chr17:28296147A>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.529A>T	17.37:g.28296147A>T	ENSP00000378312:p.Lys177*					EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Nonsense_Mutation_p.K121*|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Nonsense_Mutation_p.K56*|EFCAB5_uc010csf.2_Nonsense_Mutation_p.K56*	p.K177*	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			4	721	+			177					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Nonsense_Mutation	SNP	ENST00000394835.3	37	c.529A>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	A	35	5.520897	0.96416	.	.	ENSG00000176927	ENST00000536908;ENST00000421238;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.4895	15.2153	0.73261	1.0:0.0:0.0:0.0	.	.	.	.	X	121;121;177;177;177;177;121	.	.	K	+	1	0	EFCAB5	25320273	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	6.233000	0.72320	2.248000	0.74166	0.533000	0.62120	AAA		0.378	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4		NM_198529		3	33	0	0	0	0.004672	0	3	33		
LRRC37B	114659	broad.mit.edu	37	17	30348952	30348952	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:30348952G>C	ENST00000341671.7	+	1	792	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	LRRC37B_ENST00000394713.3_Missense_Mutation_p.E263Q|LRRC37B_ENST00000543378.2_Missense_Mutation_p.E181Q|LRRC37B_ENST00000584368.1_Missense_Mutation_p.E275Q|LRRC37B_ENST00000327564.7_Missense_Mutation_p.E290Q	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	263						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATTCCATCTAGAGCCCAAAAG	0.547																																						uc002hgu.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(787-789)GAG>CAG		leucine rich repeat containing 37B precursor							78.0	93.0	88.0					17																	30348952		2198	4287	6485	SO:0001583	missense	114659					integral to membrane		g.chr17:30348952G>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.787G>C	17.37:g.30348952G>C	ENSP00000340519:p.Glu263Gln					LRRC37B_uc010wbx.1_Missense_Mutation_p.E181Q|LRRC37B_uc010csu.2_Missense_Mutation_p.E263Q	p.E263Q	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			1	798	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	263			Extracellular (Potential).		Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.787G>C	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	12.12	1.842806	0.32606	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.76968	-1.06;-1.06;0.05;-1.05	1.65	0.643	0.17770	.	.	.	.	.	T	0.82089	0.4961	M	0.66378	2.025	0.09310	N	1	D;D	0.67145	0.975;0.996	B;D	0.67382	0.28;0.951	T	0.68224	-0.5465	9	0.62326	D	0.03	.	3.7693	0.08635	0.244:0.0:0.756:0.0	.	263;263	Q17RC9;Q96QE4	.;LR37B_HUMAN	Q	181;290;263;263	ENSP00000443345:E181Q;ENSP00000332536:E290Q;ENSP00000378202:E263Q;ENSP00000340519:E263Q	ENSP00000332536:E290Q	E	+	1	0	LRRC37B	27373065	0.000000	0.05858	0.005000	0.12908	0.092000	0.18411	0.222000	0.17699	0.252000	0.21531	0.186000	0.17326	GAG		0.547	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1		NM_052888		13	146	0	0	0	0.003163	0	13	146		
TMEM132E	124842	broad.mit.edu	37	17	32964905	32964905	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:32964905C>T	ENST00000321639.5	+	10	2937	c.2609C>T	c.(2608-2610)aCc>aTc	p.T870I		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	870						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCGCTGGAAACCGTGCCCGCC	0.706																																						uc002hif.2		NaN																	0				central_nervous_system(1)	1						c.(2608-2610)ACC>ATC		transmembrane protein 132E precursor							16.0	18.0	17.0					17																	32964905		2173	4245	6418	SO:0001583	missense	124842					integral to membrane		g.chr17:32964905C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2609C>T	17.37:g.32964905C>T	ENSP00000316532:p.Thr870Ile						p.T870I	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2937	+			870			Cytoplasmic (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2609C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	4.686	0.127646	0.08981	.	.	ENSG00000181291	ENST00000321639	T	0.05717	3.4	4.73	4.73	0.59995	.	0.248814	0.40222	N	0.001160	T	0.03348	0.0097	N	0.04508	-0.205	0.20638	N	0.999877	B	0.16603	0.018	B	0.20767	0.031	T	0.45483	-0.9258	10	0.17832	T	0.49	-27.9971	12.5337	0.56131	0.178:0.822:0.0:0.0	.	870	Q6IEE7	T132E_HUMAN	I	870	ENSP00000316532:T870I	ENSP00000316532:T870I	T	+	2	0	TMEM132E	29989018	0.986000	0.35501	0.408000	0.26446	0.001000	0.01503	2.203000	0.42752	2.461000	0.83175	0.643000	0.83706	ACC		0.706	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2		NM_207313		6	22	0	0	0	0.001984	0	6	22		
SLFN5	162394	broad.mit.edu	37	17	33591520	33591520	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:33591520G>C	ENST00000299977.4	+	4	1605	c.1457G>C	c.(1456-1458)gGg>gCg	p.G486A	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	486					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GGCTACACTGGGAGGTTATGC	0.453																																						uc002hjf.3		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1456-1458)GGG>GCG		schlafen family member 5							118.0	109.0	112.0					17																	33591520		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33591520G>C	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1457G>C	17.37:g.33591520G>C	ENSP00000299977:p.Gly486Ala					SLFN5_uc010wcg.1_Intron	p.G486A	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	4	1574	+		Ovarian(249;0.17)	486					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.1457G>C	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	g	17.03	3.285786	0.59867	.	.	ENSG00000166750	ENST00000299977	T	0.02067	4.47	3.46	-0.829	0.10796	.	0.379769	0.19238	N	0.119224	T	0.02767	0.0083	M	0.69823	2.125	0.09310	N	1	P	0.46784	0.884	B	0.38296	0.27	T	0.39396	-0.9616	10	0.56958	D	0.05	.	5.9017	0.18970	0.5394:0.0:0.4606:0.0	.	486	Q08AF3	SLFN5_HUMAN	A	486	ENSP00000299977:G486A	ENSP00000299977:G486A	G	+	2	0	SLFN5	30615633	0.002000	0.14202	0.012000	0.15200	0.734000	0.41952	0.916000	0.28651	-0.000000	0.14550	0.655000	0.94253	GGG		0.453	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2		NM_144975		8	61	0	0	0	0.00308	0	8	61		
DHRS11	79154	broad.mit.edu	37	17	34956406	34956406	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:34956406C>T	ENST00000251312.5	+	6	893	c.681C>T	c.(679-681)ctC>ctT	p.L227L	MRM1_ENST00000250156.7_5'Flank|MRM1_ENST00000585770.1_5'Flank|DHRS11_ENST00000590554.1_Silent_p.L148L	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	227						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						CTCAGTGTCTCAAACCCGAGG	0.567																																						uc002hnd.2		NaN																	0					0						c.(679-681)CTC>CTT		short-chain dehydrogenase/reductase precursor							81.0	73.0	76.0					17																	34956406		2203	4300	6503	SO:0001819	synonymous_variant	79154					extracellular region	binding|oxidoreductase activity	g.chr17:34956406C>T		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442	ENST00000251312.5:c.681C>T	17.37:g.34956406C>T						MRM1_uc002hne.2_5'Flank|MRM1_uc002hnf.2_5'Flank	p.L227L	NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN			6	895	+			227					B2RDZ3|Q9BUC7|Q9H674	Silent	SNP	ENST00000251312.5	37	c.681C>T	CCDS11315.2																																																																																				0.567	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2		NM_024308		5	31	0	0	0	0.001984	0	5	31		
MLLT6	4302	broad.mit.edu	37	17	36877001	36877001	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:36877001G>A	ENST00000325718.7	+	16	2533		c.e16+1		CTB-58E17.9_ENST00000579499.1_RNA|MIR4726_ENST00000577947.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					TTCTTCTGAGGTGGGCGCTAC	0.632			T	MLL	AL																																	uc002hqi.3		NaN		Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|prostate(1)|lung(1)|skin(1)	6						c.e16+1		myeloid/lymphoid or mixed-lineage leukemia							37.0	37.0	37.0					17																	36877001		2203	4300	6503	SO:0001630	splice_region_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36877001G>A		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.2442+1G>A	17.37:g.36877001G>A						MLLT6_uc002hqj.2_Missense_Mutation_p.V250M|MLLT6_uc002hqk.3_Splice_Site_p.E145_splice	p.E814_splice	NM_005937	NP_005928	P55198	AF17_HUMAN			16	2455	+	Breast(7;4.43e-21)							Q59F28|Q96IU3|Q9H5F6|Q9UF49	Splice_Site	SNP	ENST00000325718.7	37	c.2442_splice	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688717	0.88639	.	.	ENSG00000108292	ENST00000325718	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2536	0.82498	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLLT6	34130527	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.890000	0.87313	2.601000	0.87937	0.655000	0.94253	.		0.632	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1		NM_005937	Intron	5	38	0	0	0	0.001168	0	5	38		
NR1D1	9572	broad.mit.edu	37	17	38250311	38250311	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:38250311C>T	ENST00000246672.3	-	7	2129	c.1499G>A	c.(1498-1500)cGc>cAc	p.R500H		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	500	Ligand-binding.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GTAGGTGGTGCGGCTTAGGAA	0.572																																						uc002htz.1		NaN																	0				skin(1)	1						c.(1498-1500)CGC>CAC		nuclear receptor subfamily 1, group D, member 1							221.0	174.0	190.0					17																	38250311		2203	4300	6503	SO:0001583	missense	9572				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38250311C>T	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.1499G>A	17.37:g.38250311C>T	ENSP00000246672:p.Arg500His					NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Missense_Mutation_p.R114H	p.R500H	NM_021724	NP_068370	P20393	NR1D1_HUMAN			7	2125	-	Colorectal(19;0.000442)		500					Q0P5Z4|Q15304	Missense_Mutation	SNP	ENST00000246672.3	37	c.1499G>A	CCDS11361.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145597	0.77888	.	.	ENSG00000126368	ENST00000246672	D	0.96830	-4.14	5.14	5.14	0.70334	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.070798	0.56097	D	0.000031	D	0.95370	0.8497	N	0.11427	0.14	0.48040	D	0.999572	D;D	0.76494	0.999;0.999	D;D	0.67725	0.953;0.953	D	0.96538	0.9398	10	0.62326	D	0.03	.	17.538	0.87839	0.0:1.0:0.0:0.0	.	500;500	F1D8S3;P20393	.;NR1D1_HUMAN	H	500	ENSP00000246672:R500H	ENSP00000246672:R500H	R	-	2	0	NR1D1	35503837	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.611000	0.82962	2.666000	0.90696	0.561000	0.74099	CGC		0.572	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1				17	170	0	0	0	0.014323	0	17	170		
ACBD4	79777	broad.mit.edu	37	17	43214493	43214493	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:43214493G>A	ENST00000376955.4	+	5	699	c.402G>A	c.(400-402)ctG>ctA	p.L134L	ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000592162.1_Silent_p.L134L|ACBD4_ENST00000591859.1_Silent_p.L134L|ACBD4_ENST00000321854.8_Silent_p.L134L|ACBD4_ENST00000586346.1_Silent_p.L134L|ACBD4_ENST00000398322.3_Silent_p.L134L|ACBD4_ENST00000431281.1_Silent_p.L134L	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	134							fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						AGACCTTCCTGAGAAGGGTCA	0.607																																						uc002iid.2		NaN																	0				ovary(1)|kidney(1)	2						c.(400-402)CTG>CTA		acyl-Coenzyme A binding domain containing 4							53.0	57.0	56.0					17																	43214493		1964	4140	6104	SO:0001819	synonymous_variant	79777						fatty-acyl-CoA binding	g.chr17:43214493G>A	BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.402G>A	17.37:g.43214493G>A						ACBD4_uc010wjj.1_Silent_p.L134L|ACBD4_uc002iie.2_Silent_p.L134L|ACBD4_uc002iif.2_Silent_p.L134L|ACBD4_uc002iic.2_Silent_p.L134L|ACBD4_uc010dae.2_Silent_p.L56L	p.L134L	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN			5	746	+			134					D3DX64|Q8IUT1|Q9H8Q4	Silent	SNP	ENST00000376955.4	37	c.402G>A	CCDS45711.1																																																																																				0.607	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1		NM_024722		3	52	0	0	0	0.000602	0	3	52		
HOXB1	3211	broad.mit.edu	37	17	46606964	46606964	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:46606964G>A	ENST00000239174.6	-	2	943	c.851C>T	c.(850-852)tCa>tTa	p.S284L	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	284					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						CGACTGGTCTGAGGCATCTCC	0.637																																						uc002ink.1		NaN																	0				ovary(1)	1						c.(850-852)TCA>TTA		homeobox B1							70.0	69.0	69.0					17																	46606964		2203	4300	6503	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46606964G>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.851C>T	17.37:g.46606964G>A	ENSP00000355140:p.Ser284Leu						p.S284L	NM_002144	NP_002135	P14653	HXB1_HUMAN			2	857	-			284					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.851C>T	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095791	0.76870	.	.	ENSG00000120094	ENST00000239174	D	0.90504	-2.68	5.19	5.19	0.71726	.	0.000000	0.45606	D	0.000355	D	0.90823	0.7118	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	P	0.60789	0.879	D	0.92360	0.5896	10	0.87932	D	0	.	18.4873	0.90834	0.0:0.0:1.0:0.0	.	284	P14653	HXB1_HUMAN	L	284	ENSP00000355140:S284L	ENSP00000355140:S284L	S	-	2	0	HOXB1	43961963	1.000000	0.71417	0.982000	0.44146	0.482000	0.33219	9.629000	0.98417	2.710000	0.92621	0.655000	0.94253	TCA		0.637	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3				6	48	0	0	0	0.001984	0	6	48		
HOXB1	3211	broad.mit.edu	37	17	46607120	46607120	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:46607120C>T	ENST00000239174.6	-	2	787	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	HOXB1_ENST00000577092.1_3'UTR	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	232					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						CTCCACCCTCCGGGCCCGGCT	0.572																																						uc002ink.1		NaN																	0				ovary(1)	1						c.(694-696)CGG>CAG		homeobox B1							140.0	147.0	145.0					17																	46607120		2203	4300	6503	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46607120C>T		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.695G>A	17.37:g.46607120C>T	ENSP00000355140:p.Arg232Gln						p.R232Q	NM_002144	NP_002135	P14653	HXB1_HUMAN			2	701	-			232			Homeobox.		Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.695G>A	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	C	36	5.776549	0.96922	.	.	ENSG00000120094	ENST00000239174	D	0.95756	-3.8	5.3	5.3	0.74995	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.46442	D	0.000285	D	0.97059	0.9039	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97473	1.0042	10	0.87932	D	0	.	18.7459	0.91792	0.0:1.0:0.0:0.0	.	232	P14653	HXB1_HUMAN	Q	232	ENSP00000355140:R232Q	ENSP00000355140:R232Q	R	-	2	0	HOXB1	43962119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.621000	0.83083	2.769000	0.95229	0.655000	0.94253	CGG		0.572	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3				14	172	0	0	0	0.003163	0	14	172		
CACNA1G	8913	broad.mit.edu	37	17	48701395	48701395	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:48701395C>T	ENST00000359106.5	+	36	6188	c.6188C>T	c.(6187-6189)cCc>cTc	p.P2063L	CACNA1G_ENST00000507336.1_Missense_Mutation_p.P2052L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1952L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1970L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1970L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P1984L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P2007L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1959L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P1936L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P1929L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1918L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P2000L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P1913L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P1945L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1977L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1959L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1925L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P1963L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1973L|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000352832.5_Missense_Mutation_p.P1936L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P2018L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1992L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1936L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P2029L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P1947L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2063					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCGAGGGGCCCCTGGGACAC	0.612																																						uc002irk.1		NaN																	0				breast(1)	1						c.(6187-6189)CCC>CTC		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						39.0	43.0	42.0					17																	48701395		1897	4117	6014	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48701395C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6188C>T	17.37:g.48701395C>T	ENSP00000352011:p.Pro2063Leu					CACNA1G_uc002irj.1_Missense_Mutation_p.P1936L|CACNA1G_uc002irl.1_Missense_Mutation_p.P1947L|CACNA1G_uc002irm.1_Missense_Mutation_p.P1984L|CACNA1G_uc002irn.1_Missense_Mutation_p.P1929L|CACNA1G_uc002iro.1_Missense_Mutation_p.P1936L|CACNA1G_uc002irp.1_Missense_Mutation_p.P2018L|CACNA1G_uc002irq.1_Missense_Mutation_p.P2040L|CACNA1G_uc002irr.1_Missense_Mutation_p.P1970L|CACNA1G_uc002irs.1_Missense_Mutation_p.P2007L|CACNA1G_uc002irt.1_Missense_Mutation_p.P1952L|CACNA1G_uc002irv.1_Missense_Mutation_p.P1959L|CACNA1G_uc002irw.1_Missense_Mutation_p.P1992L|CACNA1G_uc002iru.1_Missense_Mutation_p.P2029L|CACNA1G_uc002irx.1_Missense_Mutation_p.P1883L|CACNA1G_uc002iry.1_Missense_Mutation_p.P1872L|CACNA1G_uc002irz.1_Missense_Mutation_p.P1876L|CACNA1G_uc002isa.1_Missense_Mutation_p.P1849L|CACNA1G_uc002isb.1_Missense_Mutation_p.P1890L|CACNA1G_uc002isc.1_Missense_Mutation_p.P1965L|CACNA1G_uc002isd.1_Missense_Mutation_p.P1858L|CACNA1G_uc002ise.1_Missense_Mutation_p.P1886L|CACNA1G_uc002isf.1_Missense_Mutation_p.P1913L|CACNA1G_uc002isg.1_Missense_Mutation_p.P1831L|CACNA1G_uc002ish.1_Missense_Mutation_p.P1838L|CACNA1G_uc002isi.1_Missense_Mutation_p.P1826L	p.P2063L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		36	6560	+	Breast(11;6.7e-17)		2063			Cytoplasmic (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.6188C>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	9.974	1.226180	0.22542	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97620	-4.27;-4.29;-4.36;-4.29;-4.39;-4.31;-4.4;-4.36;-4.38;-4.39;-4.41;-4.39;-4.46;-4.26;-4.36;-4.3;-4.29;-4.37;-4.33;-4.2;-4.37;-4.32;-4.39;-4.24;-4.23	5.17	4.19	0.49359	.	1.852830	0.02355	N	0.076307	D	0.95475	0.8530	L	0.38175	1.15	0.26315	N	0.977766	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.24258	0.087;0.018;0.006;0.089;0.005;0.1;0.05;0.01;0.05;0.002;0.017;0.03;0.018;0.01;0.01;0.0;0.018;0.016;0.005;0.021;0.087;0.002;0.017;0.002;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.30716	0.069;0.027;0.017;0.04;0.01;0.119;0.04;0.017;0.04;0.005;0.011;0.06;0.017;0.013;0.027;0.007;0.04;0.06;0.01;0.04;0.031;0.007;0.021;0.008;0.0	D	0.86379	0.1728	10	0.72032	D	0.01	.	9.7151	0.40270	0.0:0.7858:0.1386:0.0756	.	1913;1925;1918;2000;1973;1945;1977;1936;1963;1959;1970;1992;1959;2052;1952;2007;1970;2040;2018;1936;1929;1984;1947;2063;1936	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	L	1947;1936;2029;1929;1992;1959;1925;1913;1918;1936;2018;2052;1973;1963;1984;1970;1945;2007;1977;1936;2063;1952;2000;1970;1959	ENSP00000353990:P1947L;ENSP00000339302:P1936L;ENSP00000347078:P2029L;ENSP00000409759:P1929L;ENSP00000425522:P1992L;ENSP00000426261:P1959L;ENSP00000425451:P1925L;ENSP00000422407:P1913L;ENSP00000426814:P1918L;ENSP00000427238:P1936L;ENSP00000423112:P2018L;ENSP00000420918:P2052L;ENSP00000426172:P1973L;ENSP00000423045:P1963L;ENSP00000427173:P1984L;ENSP00000426098:P1970L;ENSP00000425698:P1945L;ENSP00000426232:P2007L;ENSP00000423317:P1977L;ENSP00000350979:P1936L;ENSP00000352011:P2063L;ENSP00000414388:P1952L;ENSP00000423155:P2000L;ENSP00000422268:P1970L;ENSP00000421518:P1959L	ENSP00000339302:P1936L	P	+	2	0	CACNA1G	46056394	0.994000	0.37717	0.988000	0.46212	0.162000	0.22319	2.811000	0.47986	2.418000	0.82041	0.555000	0.69702	CCC		0.612	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896		10	55	0	0	0	0.001855	0	10	55		
SMG8	55181	broad.mit.edu	37	17	57289713	57289713	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:57289713G>C	ENST00000543872.2	+	3	2035	c.1771G>C	c.(1771-1773)Gag>Cag	p.E591Q	SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.E591Q			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	591					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGAAAAACCAGAGGCTGATAG	0.408																																						uc002ixi.2		NaN																	0					0						c.(1771-1773)GAG>CAG		SMG8 protein							78.0	92.0	88.0					17																	57289713		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57289713G>C	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1771G>C	17.37:g.57289713G>C	ENSP00000438748:p.Glu591Gln						p.E591Q	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			2	1813	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		591					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.1771G>C	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.785049	0.49997	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.47528	0.84;0.84	5.77	5.77	0.91146	.	0.045054	0.85682	D	0.000000	T	0.51007	0.1649	L	0.40543	1.245	0.80722	D	1	P	0.52170	0.951	P	0.49637	0.617	T	0.38735	-0.9647	10	0.34782	T	0.22	-18.5192	18.9741	0.92728	0.0:0.0:1.0:0.0	.	591	Q8ND04	SMG8_HUMAN	Q	591	ENSP00000300917:E591Q;ENSP00000438748:E591Q	ENSP00000300917:E591Q	E	+	1	0	SMG8	54644495	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.946000	0.87746	2.729000	0.93468	0.655000	0.94253	GAG		0.408	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2		NM_018149		6	135	0	0	0	0.00308	0	6	135		
USP32	84669	broad.mit.edu	37	17	58313541	58313541	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:58313541G>A	ENST00000300896.4	-	12	1391	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	USP32_ENST00000592339.1_Silent_p.I69I	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	399	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACTGCATGGAGATGATAAACC	0.393																																						uc002iyo.1		NaN																	0				lung(2)|breast(2)|large_intestine(1)	5						c.(1195-1197)ATC>ATT		ubiquitin specific protease 32							212.0	189.0	197.0					17																	58313541		2203	4300	6503	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58313541G>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1197C>T	17.37:g.58313541G>A						USP32_uc002iyn.1_Silent_p.I69I	p.I399I	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		12	1483	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		399			DUSP.		Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.1197C>T	CCDS32697.1																																																																																				0.393	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2		NM_032582		8	172	0	0	0	0.010729	0	8	172		
USP32	84669	broad.mit.edu	37	17	58422944	58422944	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:58422944C>T	ENST00000300896.4	-	2	278	c.84G>A	c.(82-84)ctG>ctA	p.L28L	USP32_ENST00000393003.3_Silent_p.L28L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	28					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AAGCATCCTTCAGTCGTTTTA	0.458																																						uc002iyo.1		NaN																	0				lung(2)|breast(2)|large_intestine(1)	5						c.(82-84)CTG>CTA		ubiquitin specific protease 32							120.0	108.0	112.0					17																	58422944		2203	4300	6503	SO:0001819	synonymous_variant	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58422944C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.84G>A	17.37:g.58422944C>T						USP32_uc010wov.1_Silent_p.L28L	p.L28L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		2	370	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		28					Q7Z5T3|Q9BX85|Q9Y591	Silent	SNP	ENST00000300896.4	37	c.84G>A	CCDS32697.1																																																																																				0.458	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2		NM_032582		4	79	0	0	0	0.000602	0	4	79		
ACE	1636	broad.mit.edu	37	17	61568636	61568636	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:61568636G>T	ENST00000290866.4	+	19	2830	c.2806G>T	c.(2806-2808)Gtg>Ttg	p.V936L	ACE_ENST00000577647.1_Missense_Mutation_p.V362L|ACE_ENST00000421982.2_Missense_Mutation_p.V182L|ACE_ENST00000428043.1_Missense_Mutation_p.V936L|ACE_ENST00000290863.6_Missense_Mutation_p.V362L|ACE_ENST00000490216.2_Missense_Mutation_p.V362L|ACE_ENST00000413513.3_Missense_Mutation_p.V362L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	936	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.V362M(1)|p.V936M(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCTGCTGCCCGTGCCTCCTGA	0.617																																						uc002jau.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2806-2808)GTG>TTG		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						63.0	64.0	64.0					17																	61568636		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61568636G>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2806G>T	17.37:g.61568636G>T	ENSP00000290866:p.Val936Leu					ACE_uc002jav.1_Missense_Mutation_p.V362L|ACE_uc010ddv.1_Missense_Mutation_p.V163L|ACE_uc010wpj.1_Missense_Mutation_p.V362L|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.V182L	p.V936L	NM_000789	NP_000780	P12821	ACE_HUMAN			19	2828	+			936			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.2806G>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608492	0.46527	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.39	1.06	0.20224	.	0.092460	0.64402	D	0.000001	T	0.11410	0.0278	N	0.02865	-0.47	0.35040	D	0.759632	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.14023	0.01;0.007;0.001;0.007	T	0.09058	-1.0692	10	0.40728	T	0.16	-28.7455	0.3248	0.00309	0.3204:0.1902:0.2961:0.1933	.	182;362;362;936	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	L	936;936;362;362;182	ENSP00000290866:V936L;ENSP00000397593:V936L;ENSP00000290863:V362L;ENSP00000392247:V362L;ENSP00000387760:V182L	ENSP00000290863:V362L	V	+	1	0	ACE	58922368	1.000000	0.71417	0.983000	0.44433	0.992000	0.81027	3.803000	0.55560	1.257000	0.44085	0.561000	0.74099	GTG		0.617	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2				6	44	1	0	3.59834e-05	0.001168	3.77448e-05	6	44		
MAP3K3	4215	broad.mit.edu	37	17	61768566	61768566	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:61768566G>C	ENST00000361733.3	+	13	1637	c.1317G>C	c.(1315-1317)ctG>ctC	p.L439L	MAP3K3_ENST00000579585.1_Silent_p.L470L|MAP3K3_ENST00000361357.3_Silent_p.L470L|MAP3K3_ENST00000584573.1_Silent_p.L466L|MAP3K3_ENST00000577395.1_Silent_p.L435L	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	439	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGAAGACCCTGACCATCTTCA	0.577																																						uc002jbg.2		NaN																	0				lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						c.(1315-1317)CTG>CTC		mitogen-activated protein kinase kinase kinase 3							133.0	110.0	118.0					17																	61768566		2203	4300	6503	SO:0001819	synonymous_variant	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61768566G>C	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.1317G>C	17.37:g.61768566G>C						MAP3K3_uc002jbe.2_Silent_p.L470L|MAP3K3_uc002jbf.2_Silent_p.L470L|MAP3K3_uc002jbh.2_Silent_p.L466L|MAP3K3_uc010wpo.1_Silent_p.L354L|MAP3K3_uc010wpp.1_Silent_p.L435L	p.L439L	NM_002401	NP_002392	Q99759	M3K3_HUMAN			13	1636	+			439			Protein kinase.		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	ENST00000361733.3	37	c.1317G>C	CCDS32702.1																																																																																				0.577	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1		NM_002401		5	115	0	0	0	0.001168	0	5	115		
HELZ	9931	broad.mit.edu	37	17	65197255	65197255	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:65197255G>C	ENST00000358691.5	-	7	585	c.419C>G	c.(418-420)tCa>tGa	p.S140*	HELZ_ENST00000580662.1_5'UTR|HELZ_ENST00000580168.1_Nonsense_Mutation_p.S140*	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	140						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S140*(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCTGTTTCTGAGAGAAGTGT	0.343											OREG0024677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010wqk.1		NaN																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(418-420)TCA>TGA		helicase with zinc finger domain							171.0	161.0	164.0					17																	65197255		1869	4093	5962	SO:0001587	stop_gained	9931							g.chr17:65197255G>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.419C>G	17.37:g.65197255G>C	ENSP00000351524:p.Ser140*		OREG0024677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1082	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Nonsense_Mutation_p.S140*|HELZ_uc010des.1_Nonsense_Mutation_p.S140*	p.S140*	NM_014877	NP_055692					7	606	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Nonsense_Mutation	SNP	ENST00000358691.5	37	c.419C>G	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686712	0.88639	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	.	.	.	5.61	2.53	0.30540	.	0.410647	0.27881	N	0.017480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-0.7066	5.0711	0.14608	0.2305:0.0:0.6228:0.1468	.	.	.	.	X	140	.	ENSP00000351524:S140X	S	-	2	0	HELZ	62627717	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	1.909000	0.39917	0.316000	0.23135	0.655000	0.94253	TCA		0.343	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1		NM_014877		7	78	0	0	0	0.00308	0	7	78		
SLC39A11	201266	broad.mit.edu	37	17	71027826	71027826	+	Missense_Mutation	SNP	G	G	A	rs200152449		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:71027826G>A	ENST00000542342.2	-	4	263	c.175C>T	c.(175-177)Ctt>Ttt	p.L59F	SLC39A11_ENST00000579732.1_Missense_Mutation_p.L59F|SLC39A11_ENST00000255559.3_Missense_Mutation_p.L59F	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	59					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GGGGCCAGAAGAGACCAATAG	0.537																																					NSCLC(95;736 1527 12296 39625 41839)	uc002jjb.2		NaN																	0				ovary(1)	1						c.(175-177)CTT>TTT		solute carrier family 39, member 11 isoform 1							124.0	109.0	114.0					17																	71027826		2203	4300	6503	SO:0001583	missense	201266				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr17:71027826G>A	AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"""Solute carriers"""	14463	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 26"""	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.175C>T	17.37:g.71027826G>A	ENSP00000445829:p.Leu59Phe					SLC39A11_uc002jja.2_Missense_Mutation_p.L59F|SLC39A11_uc002jjc.1_Missense_Mutation_p.L59F	p.L59F	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN			4	290	-			59			Helical; (Potential).		B2R8H7|Q8WZ81	Missense_Mutation	SNP	ENST00000542342.2	37	c.175C>T	CCDS54160.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213655	0.79352	.	.	ENSG00000133195	ENST00000542342;ENST00000255559	T;T	0.65549	-0.16;-0.16	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.86293	0.5898	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91135	0.4941	10	0.87932	D	0	.	17.0718	0.86576	0.0:0.0:1.0:0.0	.	59;59	Q8N1S5;Q8N1S5-2	S39AB_HUMAN;.	F	59	ENSP00000445829:L59F;ENSP00000255559:L59F	ENSP00000255559:L59F	L	-	1	0	SLC39A11	68539421	1.000000	0.71417	0.983000	0.44433	0.990000	0.78478	3.781000	0.55394	2.372000	0.80975	0.655000	0.94253	CTT		0.537	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441442.1				3	32	0	0	0	0.009096	0	3	32		
DNAI2	64446	broad.mit.edu	37	17	72285872	72285872	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:72285872C>T	ENST00000311014.6	+	5	674	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	DNAI2_ENST00000582036.1_Silent_p.L203L|DNAI2_ENST00000307504.5_Silent_p.L60L|DNAI2_ENST00000579490.1_Silent_p.L260L|DNAI2_ENST00000446837.2_Silent_p.L203L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	203					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CATCTGGGACCTGGGTGAGAA	0.627									Kartagener syndrome																													uc002jkf.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(607-609)CTG>TTG		dynein, axonemal, intermediate polypeptide 2							55.0	54.0	54.0					17																	72285872		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72285872C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.607C>T	17.37:g.72285872C>T						DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	p.L203L	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			5	706	+			203			WD 1.		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.607C>T	CCDS11697.1																																																																																				0.627	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1		NM_023036		10	56	0	0	0	0.013537	0	10	56		
ARMC7	79637	broad.mit.edu	37	17	73124975	73124975	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:73124975C>T	ENST00000245543.1	+	3	741	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	ARMC7_ENST00000581078.1_3'UTR|ARMC7_ENST00000579096.1_3'UTR|NT5C_ENST00000579082.1_5'Flank	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	147						cytoplasm (GO:0005737)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GTGCATGCTTCGCTTCTCCCT	0.692																																						uc002jmw.1		NaN																	0				pancreas(1)	1						c.(439-441)CGC>TGC		armadillo repeat containing 7							31.0	27.0	28.0					17																	73124975		2201	4300	6501	SO:0001583	missense	79637						binding	g.chr17:73124975C>T	AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"""Armadillo repeat containing"""	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.439C>T	17.37:g.73124975C>T	ENSP00000245543:p.Arg147Cys					ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_RNA	p.R147C	NM_024585	NP_078861	Q9H6L4	ARMC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		3	741	+	all_lung(278;0.14)|Lung NSC(278;0.168)		147					B4DVA4	Missense_Mutation	SNP	ENST00000245543.1	37	c.439C>T	CCDS11714.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217791	0.95104	.	.	ENSG00000125449	ENST00000245543	T	0.52983	0.64	5.18	5.18	0.71444	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.69862	-0.5030	10	0.87932	D	0	.	19.0722	0.93143	0.0:1.0:0.0:0.0	.	147	Q9H6L4	ARMC7_HUMAN	C	147	ENSP00000245543:R147C	ENSP00000245543:R147C	R	+	1	0	ARMC7	70636570	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.771000	0.85420	2.595000	0.87683	0.655000	0.94253	CGC		0.692	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445846.1		NM_024585		3	30	0	0	0	0.009096	0	3	30		
GALR2	8811	broad.mit.edu	37	17	74073116	74073117	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:74073116_74073117CC>TT	ENST00000329003.3	+	2	858_859	c.768_769CC>TT	c.(766-771)atCCtc>atTTtc	p.L257F	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	257					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACGCGCTCATCCTCTGCGTGTG	0.663																																						uc002jqm.1		NaN																	0					0						c.(766-771)ATCCTC>ATTTTC		galanin receptor 2																																				SO:0001583	missense	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74073116_74073117CC>TT	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	Exception_encountered	17.37:g.74073116_74073117delinsTT	ENSP00000329684:p.Leu257Phe					ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	p.L257F	NM_003857	NP_003848	O43603	GALR2_HUMAN			2	849_850	+			257			Helical; Name=6; (Potential).		A5JUU4|Q32MN8	Missense_Mutation	DNP	ENST00000329003.3	37	c.768_769CC>TT	CCDS11739.1																																																																																				0.663	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1				4	43	0	0	0	0.004672	0	4	43		
ZACN	353174	broad.mit.edu	37	17	74075572	74075572	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:74075572C>G	ENST00000334586.5	+	2	233	c.150C>G	c.(148-150)atC>atG	p.I50M	EXOC7_ENST00000591724.1_5'Flank|ZACN_ENST00000392503.2_Missense_Mutation_p.I50M	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	50					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGGAAAGCATCCAGATCCCGA	0.547																																						uc002jqn.2		NaN																	0					0						c.(148-150)ATC>ATG		zinc activated ligand-gated ion channel							164.0	139.0	148.0					17																	74075572		2203	4300	6503	SO:0001583	missense	353174				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr17:74075572C>G	AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.150C>G	17.37:g.74075572C>G	ENSP00000334854:p.Ile50Met					ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_RNA	p.I50M	NM_180990	NP_851321	Q401N2	ZACN_HUMAN			2	233	+			50			Extracellular (Potential).		Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	ENST00000334586.5	37	c.150C>G	CCDS11740.2	.	.	.	.	.	.	.	.	.	.	C	9.505	1.104283	0.20632	.	.	ENSG00000186919	ENST00000334586;ENST00000392503	T	0.77620	-1.11	3.72	0.304	0.15796	Neurotransmitter-gated ion-channel ligand-binding (1);	0.282016	0.26130	N	0.026172	T	0.72269	0.3439	L	0.57536	1.79	0.19945	N	0.999946	P	0.44946	0.846	P	0.46585	0.521	T	0.64512	-0.6390	10	0.72032	D	0.01	-9.8894	4.2307	0.10601	0.1857:0.5788:0.0:0.2355	.	50	Q401N2	ZACN_HUMAN	M	50	ENSP00000334854:I50M	ENSP00000334854:I50M	I	+	3	3	ZACN	71587167	0.012000	0.17670	0.788000	0.31933	0.037000	0.13140	-0.031000	0.12287	0.264000	0.21851	-0.448000	0.05591	ATC		0.547	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2		NM_180990		6	37	0	0	0	0.001984	0	6	37		
RHBDF2	79651	broad.mit.edu	37	17	74477496	74477496	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:74477496C>G	ENST00000313080.4	-	3	384	c.111G>C	c.(109-111)gaG>gaC	p.E37D	RHBDF2_ENST00000591885.1_Missense_Mutation_p.E37D|RHBDF2_ENST00000389760.4_Missense_Mutation_p.E37D|RHBDF2_ENST00000592378.1_5'UTR	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	37					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GGGCCTGGGTCTCTTTCTCGG	0.637																																						uc002jrq.1		NaN																	0					0						c.(109-111)GAG>GAC		rhomboid, veinlet-like 6 isoform 1							78.0	66.0	70.0					17																	74477496		2203	4300	6503	SO:0001583	missense	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74477496C>G	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.111G>C	17.37:g.74477496C>G	ENSP00000322775:p.Glu37Asp					RHBDF2_uc002jrp.1_Missense_Mutation_p.E37D|RHBDF2_uc002jrr.1_5'UTR|RHBDF2_uc010wtf.1_Missense_Mutation_p.E37D|RHBDF2_uc002jrs.1_Missense_Mutation_p.E37D	p.E37D	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN			3	404	-			37			Cytoplasmic (Potential).		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	c.111G>C	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	C	1.354	-0.590722	0.03799	.	.	ENSG00000129667	ENST00000313080;ENST00000389760	T;T	0.56444	0.46;0.51	0.468	0.468	0.16732	.	0.742696	0.10261	U	0.696036	T	0.30039	0.0752	N	0.08118	0	0.09310	N	1	P;B;B	0.48503	0.911;0.239;0.228	P;B;B	0.45195	0.473;0.093;0.236	T	0.12915	-1.0529	9	0.12103	T	0.63	.	.	.	.	.	37;37;37	B7Z8H4;Q6PJF5;Q6PJF5-2	.;RHDF2_HUMAN;.	D	37	ENSP00000322775:E37D;ENSP00000374410:E37D	ENSP00000322775:E37D	E	-	3	2	RHBDF2	71989091	0.012000	0.17670	0.085000	0.20634	0.709000	0.40893	0.392000	0.20801	0.488000	0.27723	0.491000	0.48974	GAG		0.637	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1		NM_024599		3	43	0	0	0	0.000602	0	3	43		
CBX8	57332	broad.mit.edu	37	17	77768460	77768460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr17:77768460G>A	ENST00000269385.4	-	5	1261	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	382					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)	p.D381fs*>5(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AAAAAGCCTTGGTCCGTGTTA	0.498																																						uc002jxd.1		NaN																	1	Deletion - Frameshift(1)		stomach(1)		0						c.(1144-1146)CAA>TAA		chromobox homolog 8							154.0	169.0	164.0					17																	77768460		2203	4300	6503	SO:0001587	stop_gained	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77768460G>A	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.1144C>T	17.37:g.77768460G>A	ENSP00000269385:p.Gln382*						p.Q382*	NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1237	-			382					Q96H39|Q9NR07	Nonsense_Mutation	SNP	ENST00000269385.4	37	c.1144C>T	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	g	36	5.908506	0.97093	.	.	ENSG00000141570	ENST00000269385	.	.	.	5.11	4.12	0.48240	.	0.748475	0.12947	N	0.426149	.	.	.	.	.	.	0.41399	D	0.987666	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.5703	15.9556	0.79886	0.0:0.1354:0.8646:0.0	.	.	.	.	X	382	.	ENSP00000269385:Q382X	Q	-	1	0	CBX8	75383055	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.222000	0.51223	1.286000	0.44565	0.531000	0.56144	CAA		0.498	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1		NM_020649		13	212	0	0	0	0.004007	0	13	212		
DLGAP1	9229	broad.mit.edu	37	18	3879141	3879141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:3879141G>A	ENST00000315677.3	-	4	1523	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.Q310*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.Q310*|DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.Q310*|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	310					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGTTCTTGCTGACACGACTCG	0.577																																						uc002kmf.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(928-930)CAG>TAG		discs large homolog-associated protein 1 isoform							70.0	66.0	67.0					18																	3879141		2203	4300	6503	SO:0001587	stop_gained	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879141G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.928C>T	18.37:g.3879141G>A	ENSP00000316377:p.Gln310*					DLGAP1_uc010wyz.1_Nonsense_Mutation_p.Q310*|DLGAP1_uc002kmk.2_Nonsense_Mutation_p.Q310*|uc002kml.1_Intron	p.Q310*	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	995	-		Colorectal(8;0.0257)	310					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Nonsense_Mutation	SNP	ENST00000315677.3	37	c.928C>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	43	10.076332	0.99331	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-15.1401	19.4162	0.94700	0.0:0.0:1.0:0.0	.	.	.	.	X	310	.	ENSP00000316377:Q310X	Q	-	1	0	DLGAP1	3869141	1.000000	0.71417	0.973000	0.42090	0.865000	0.49528	7.803000	0.85983	2.605000	0.88082	0.655000	0.94253	CAG		0.577	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4				10	97	0	0	0	0.013537	0	10	97		
CEP76	79959	broad.mit.edu	37	18	12673397	12673397	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:12673397G>A	ENST00000262127.2	-	12	2172	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	RP11-973H7.3_ENST00000585877.1_RNA|CEP76_ENST00000423709.2_Silent_p.I574I|PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	649					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGCAAACATGATCCAAACAG	0.378																																						uc002kri.2		NaN																	0					0						c.(1945-1947)ATC>ATT		centrosomal protein 76kDa							124.0	127.0	126.0					18																	12673397		2203	4300	6503	SO:0001819	synonymous_variant	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12673397G>A	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1947C>T	18.37:g.12673397G>A						PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Silent_p.I471I|CEP76_uc010wzz.1_Silent_p.I574I	p.I649I	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN			12	2103	-			649					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Silent	SNP	ENST00000262127.2	37	c.1947C>T	CCDS11861.1																																																																																				0.378	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1		NM_024899		22	133	0	0	0	0.00278	0	22	133		
ANKRD30B	374860	broad.mit.edu	37	18	14850274	14850274	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:14850274A>T	ENST00000358984.4	+	35	3280	c.3100A>T	c.(3100-3102)Aga>Tga	p.R1034*		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1034										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAAAAATTAGACCCGAAGA	0.279																																						uc010dlo.2		NaN																	0				ovary(1)|skin(1)	2						c.(3100-3102)AGA>TGA		ankyrin repeat domain 30B							57.0	50.0	52.0					18																	14850274		692	1576	2268	SO:0001587	stop_gained	374860							g.chr18:14850274A>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3100A>T	18.37:g.14850274A>T	ENSP00000351875:p.Arg1034*					ANKRD30B_uc010xal.1_Nonsense_Mutation_p.R176*	p.R1034*	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			35	3280	+			1119			Potential.		B4DGP1|F8WAG3|Q4G175	Nonsense_Mutation	SNP	ENST00000358984.4	37	c.3100A>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	A	36	5.850371	0.97023	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	.	.	.	1.48	1.48	0.22813	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0503	0.25069	1.0:0.0:0.0:0.0	.	.	.	.	X	1034;428;454	.	ENSP00000277669:R454X	R	+	1	2	ANKRD30B	14840274	0.519000	0.26242	0.153000	0.22517	0.045000	0.14185	3.169000	0.50809	0.941000	0.37499	0.145000	0.16022	AGA		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1		NM_001145029		6	16	0	0	0	0.001984	0	6	16		
WDR7	23335	broad.mit.edu	37	18	54348569	54348569	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:54348569G>A	ENST00000254442.3	+	4	503	c.292G>A	c.(292-294)Gat>Aat	p.D98N	WDR7_ENST00000357574.3_Missense_Mutation_p.D98N|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	98					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGATGTGAGTGATGGCAGATG	0.338																																						uc002lgk.1		NaN																	0				ovary(2)|skin(1)	3						c.(292-294)GAT>AAT		rabconnectin-3 beta isoform 1							167.0	159.0	162.0					18																	54348569		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54348569G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.292G>A	18.37:g.54348569G>A	ENSP00000254442:p.Asp98Asn					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.D98N	p.D98N	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	4	503	+			98			WD 2.		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.292G>A	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	32	5.186113	0.94885	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.04654	3.58;3.58	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	L	0.48877	1.53	0.80722	D	1	P;D	0.76494	0.532;0.999	B;D	0.63488	0.19;0.915	T	0.00105	-1.2057	10	0.48119	T	0.1	.	19.4611	0.94918	0.0:0.0:1.0:0.0	.	98;98	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	N	98	ENSP00000254442:D98N;ENSP00000350187:D98N	ENSP00000254442:D98N	D	+	1	0	WDR7	52499567	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	9.736000	0.98828	2.704000	0.92352	0.484000	0.47621	GAT		0.338	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1				16	146	0	0	0	0.004007	0	16	146		
TSHZ1	10194	broad.mit.edu	37	18	72999153	72999153	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr18:72999153G>A	ENST00000580243.1	+	2	2139	c.1791G>A	c.(1789-1791)caG>caA	p.Q597Q	TSHZ1_ENST00000322038.5_Silent_p.Q552Q			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	597					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGGCCGTGCAGAGCGTGCAGG	0.682																																						uc002lly.2		NaN																	0					0						c.(1654-1656)CAG>CAA		teashirt family zinc finger 1							32.0	33.0	33.0					18																	72999153		2203	4296	6499	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999153G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1791G>A	18.37:g.72999153G>A							p.Q552Q	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2219	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	597					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.1656G>A																																																																																					0.682	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1		NM_005786		3	26	0	0	0	0.009096	0	3	26		
BTBD2	55643	broad.mit.edu	37	19	1993151	1993151	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:1993151C>G	ENST00000255608.4	-	3	568	c.552G>C	c.(550-552)caG>caC	p.Q184H	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA|BTBD2_ENST00000590646.1_5'UTR	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	184	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		CCGGGCCAATCTGCACCTCGT	0.642																																						uc002lup.1		NaN																	0				ovary(1)|skin(1)	2						c.(550-552)CAG>CAC		BTB (POZ) domain containing 2							78.0	57.0	64.0					19																	1993151		2203	4300	6503	SO:0001583	missense	55643					cytoplasmic mRNA processing body	protein binding	g.chr19:1993151C>G	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.552G>C	19.37:g.1993151C>G	ENSP00000255608:p.Gln184His					BTBD2_uc002luo.1_5'Flank	p.Q184H	NM_017797	NP_060267	Q9BX70	BTBD2_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)	3	552	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	184			BTB.		O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	c.552G>C	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809778	0.50421	.	.	ENSG00000133243	ENST00000255608	T	0.68025	-0.3	4.11	3.03	0.35002	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.127254	0.53938	D	0.000042	T	0.53738	0.1815	L	0.33189	0.99	0.49213	D	0.999762	B	0.14805	0.011	B	0.20577	0.03	T	0.51220	-0.8733	10	0.51188	T	0.08	-14.7029	10.1617	0.42855	0.0:0.8951:0.0:0.1049	.	184	Q9BX70	BTBD2_HUMAN	H	184	ENSP00000255608:Q184H	ENSP00000255608:Q184H	Q	-	3	2	BTBD2	1944151	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.588000	0.53964	0.850000	0.35239	0.561000	0.74099	CAG		0.642	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2				7	44	0	0	0	0.004482	0	7	44		
NFIC	4782	broad.mit.edu	37	19	3382105	3382105	+	Silent	SNP	G	G	A	rs146650773		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:3382105G>A	ENST00000443272.2	+	2	477	c.426G>A	c.(424-426)ccG>ccA	p.P142P	NFIC_ENST00000589123.1_Silent_p.P133P|NFIC_ENST00000395111.3_Silent_p.P133P|NFIC_ENST00000341919.3_Silent_p.P142P|NFIC_ENST00000346156.5_Silent_p.P133P|NFIC_ENST00000590282.1_Silent_p.P142P|NFIC_ENST00000586919.1_Silent_p.P133P	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	142					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AGGGCATCCCGCTGGAGAGCA	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		14966	0.0		0.001	False		,,,				2504	0.0					uc010xhi.1		NaN																	0					0						c.(424-426)CCG>CCA		nuclear factor I/C isoform 2							68.0	72.0	71.0					19																	3382105		2202	4299	6501	SO:0001819	synonymous_variant	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3382105G>A	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.426G>A	19.37:g.3382105G>A						NFIC_uc002lxo.2_Silent_p.P133P|NFIC_uc010xhh.1_Silent_p.P133P|NFIC_uc002lxp.2_Silent_p.P142P|NFIC_uc010xhj.1_Silent_p.P142P|NFIC_uc002lxq.1_Silent_p.P94P	p.P142P	NM_205843	NP_995315	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	2	488	+		Hepatocellular(1079;0.137)	142			CTF/NF-I.		A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Silent	SNP	ENST00000443272.2	37	c.426G>A	CCDS59330.1																																																																																				0.672	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1		NM_005597		4	130	0	0	0	0.009096	0	4	130		
CHAF1A	10036	broad.mit.edu	37	19	4428819	4428819	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:4428819C>G	ENST00000301280.5	+	8	1637	c.1536C>G	c.(1534-1536)ctC>ctG	p.L512L	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	512					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAAGACCTCAAAGGCCGGC	0.612								Chromatin Structure																														uc002mal.2		NaN																	0				ovary(1)|skin(1)	2						c.(1534-1536)CTC>CTG	Chromatin_Structure	chromatin assembly factor 1, subunit A (p150)							39.0	42.0	41.0					19																	4428819		2203	4300	6503	SO:0001819	synonymous_variant	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4428819C>G	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1536C>G	19.37:g.4428819C>G							p.L512L	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1636	+		Hepatocellular(1079;0.137)	512					Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	ENST00000301280.5	37	c.1536C>G	CCDS32875.1																																																																																				0.612	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2		NM_005483		11	60	0	0	0	0.001855	0	11	60		
ZNRF4	148066	broad.mit.edu	37	19	5455804	5455804	+	Missense_Mutation	SNP	G	G	A	rs141487677		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:5455804G>A	ENST00000222033.4	+	1	379	c.302G>A	c.(301-303)cGg>cAg	p.R101Q		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	101						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCAGTGGTACGGGCCGTGCTG	0.692													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15348	0.0		0.0	False		,,,				2504	0.0					uc002mca.3		NaN																	0				large_intestine(2)	2						c.(301-303)CGG>CAG		zinc and ring finger 4 precursor		G	GLN/ARG	4,4262		0,4,2129	46.0	56.0	53.0		302	1.4	0.0	19	dbSNP_134	53	1,8453		0,1,4226	yes	missense	ZNRF4	NM_181710.3	43	0,5,6355	AA,AG,GG		0.0118,0.0938,0.0393	probably-damaging	101/430	5455804	5,12715	2133	4227	6360	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5455804G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.302G>A	19.37:g.5455804G>A	ENSP00000222033:p.Arg101Gln						p.R101Q	NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	379	+			101			Extracellular (Potential).		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.302G>A	CCDS42475.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	9.562	1.118694	0.20877	9.38E-4	1.18E-4	ENSG00000105428	ENST00000222033	T	0.04194	3.68	3.63	1.44	0.22558	.	1.017090	0.07895	U	0.971786	T	0.04815	0.0130	M	0.66939	2.045	0.09310	N	1	P	0.39181	0.663	B	0.24974	0.057	T	0.42258	-0.9462	10	0.23302	T	0.38	.	4.6081	0.12387	0.3224:0.0:0.6776:0.0	.	101	Q8WWF5	ZNRF4_HUMAN	Q	101	ENSP00000222033:R101Q	ENSP00000222033:R101Q	R	+	2	0	ZNRF4	5406804	0.842000	0.29525	0.045000	0.18777	0.014000	0.08584	0.583000	0.23849	0.482000	0.27582	0.313000	0.20887	CGG		0.692	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1		NM_181710		18	76	0	0	0	0.005443	0	18	76		
MLLT1	4298	broad.mit.edu	37	19	6270699	6270699	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:6270699G>A	ENST00000252674.7	-	2	247	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	28	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGTCGTGAGTGAACCCCTCCG	0.612			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mek.2		NaN		Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				skin(1)	1						c.(82-84)TTC>TTT		myeloid/lymphoid or mixed-lineage leukemia							125.0	92.0	103.0					19																	6270699		2203	4300	6503	SO:0001819	synonymous_variant	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6270699G>A		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.84C>T	19.37:g.6270699G>A			OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	632		p.F28F	NM_005934	NP_005925	Q03111	ENL_HUMAN			2	248	-			28			YEATS.		Q14768	Silent	SNP	ENST00000252674.7	37	c.84C>T	CCDS12160.1																																																																																				0.612	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1		NM_005934		6	54	0	0	0	0.001984	0	6	54		
FBN3	84467	broad.mit.edu	37	19	8171100	8171100	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:8171100C>G	ENST00000600128.1	-	38	5119	c.4705G>C	c.(4705-4707)Gag>Cag	p.E1569Q	FBN3_ENST00000601739.1_Missense_Mutation_p.E1569Q|FBN3_ENST00000270509.2_Missense_Mutation_p.E1569Q			Q75N90	FBN3_HUMAN	fibrillin 3	1569	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTGGCAGCTCTTGGCACTCG	0.577																																						uc002mjf.2		NaN																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(4705-4707)GAG>CAG		fibrillin 3 precursor							91.0	70.0	78.0					19																	8171100		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8171100C>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4705G>C	19.37:g.8171100C>G	ENSP00000470498:p.Glu1569Gln						p.E1569Q	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			37	4726	-			1569			EGF-like 24; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4705G>C	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876820	0.72180	.	.	ENSG00000142449	ENST00000270509	D	0.92099	-2.97	3.25	3.25	0.37280	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.88058	0.6335	L	0.28694	0.88	0.58432	D	0.999996	P	0.49783	0.928	P	0.44359	0.447	D	0.89384	0.3684	10	0.66056	D	0.02	.	14.4308	0.67249	0.0:1.0:0.0:0.0	.	1569	Q75N90	FBN3_HUMAN	Q	1569	ENSP00000270509:E1569Q	ENSP00000270509:E1569Q	E	-	1	0	FBN3	8077100	1.000000	0.71417	0.983000	0.44433	0.930000	0.56654	5.522000	0.67092	1.527000	0.49086	0.561000	0.74099	GAG		0.577	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2		NM_032447		7	56	0	0	0	0.00308	0	7	56		
MUC16	94025	broad.mit.edu	37	19	9025598	9025598	+	Silent	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:9025598A>G	ENST00000397910.4	-	15	37059	c.36856T>C	c.(36856-36858)Ttg>Ctg	p.L12286L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12288	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCTGAGCAAGGTCAATCTG	0.527																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(36856-36858)TTG>CTG		mucin 16							111.0	101.0	104.0					19																	9025598		1962	4155	6117	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9025598A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36856T>C	19.37:g.9025598A>G							p.L12286L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			15	37060	-			12288			SEA 2.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.36856T>C	CCDS54212.1																																																																																				0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		21	115	0	0	0	0.00278	0	21	115		
MRPL4	51073	broad.mit.edu	37	19	10369342	10369342	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:10369342C>T	ENST00000253099.6	+	8	1007	c.720C>T	c.(718-720)ttC>ttT	p.F240F	CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Silent_p.F240F|CTD-2369P2.4_ENST00000587088.1_RNA|MRPL4_ENST00000590669.1_Silent_p.F240F|MRPL4_ENST00000393733.2_Silent_p.F240F	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	240					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TTAAGACCTTCAACTTGATCC	0.567																																						uc002mnm.2		NaN																	0				ovary(1)	1						c.(718-720)TTC>TTT		mitochondrial ribosomal protein L4 isoform a							120.0	118.0	119.0					19																	10369342		2203	4300	6503	SO:0001819	synonymous_variant	51073				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr19:10369342C>T	AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.720C>T	19.37:g.10369342C>T						MRPL4_uc002mnn.2_Silent_p.F240F|MRPL4_uc002mno.2_Silent_p.F240F	p.F240F	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)	9	874	+		Renal(1328;0.0112)	240					A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Silent	SNP	ENST00000253099.6	37	c.720C>T	CCDS12230.1																																																																																				0.567	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1				7	95	0	0	0	0.00308	0	7	95		
DOCK6	57572	broad.mit.edu	37	19	11323951	11323951	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:11323951C>T	ENST00000294618.7	-	35	4403	c.4392G>A	c.(4390-4392)ctG>ctA	p.L1464L	DOCK6_ENST00000319867.7_Silent_p.L803L|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1464					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GTAGGAGCCTCAGGCACAGGT	0.647																																						uc002mqs.3		NaN																	0				ovary(2)|skin(1)	3						c.(4390-4392)CTG>CTA		dedicator of cytokinesis 6							35.0	43.0	41.0					19																	11323951		2185	4287	6472	SO:0001819	synonymous_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11323951C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4392G>A	19.37:g.11323951C>T						DOCK6_uc010xlq.1_Silent_p.L803L	p.L1464L	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			35	4433	-			1464					A6H8X5|Q7Z7P4|Q9P2F2	Silent	SNP	ENST00000294618.7	37	c.4392G>A	CCDS45975.1																																																																																				0.647	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1		NM_020812		6	28	0	0	0	0.001984	0	6	28		
DNASE2	1777	broad.mit.edu	37	19	12985238	12985238	+	IGR	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:12985238C>T	ENST00000222219.3	-	0	1955				MAST1_ENST00000251472.4_Missense_Mutation_p.R1423C|AC020934.1_ENST00000578125.1_RNA	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GACAGGCCGGCGCAGCAGCTC	0.711																																						uc002mvm.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(4267-4269)CGC>TGC		microtubule associated serine/threonine kinase							15.0	19.0	17.0					19																	12985238		2150	4226	6376	SO:0001628	intergenic_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12985238C>T	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12985238C>T							p.R1423C	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			26	4395	+			1423					B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	ENST00000222219.3	37	c.4267C>T	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.097208	0.76870	.	.	ENSG00000105613	ENST00000251472	T	0.68624	-0.34	4.92	4.92	0.64577	.	0.137717	0.33161	N	0.005210	T	0.54415	0.1857	N	0.19112	0.55	0.49582	D	0.999801	D	0.63880	0.993	B	0.44315	0.446	T	0.60959	-0.7159	10	0.54805	T	0.06	-27.3451	13.6704	0.62420	0.0:1.0:0.0:0.0	.	1423	Q9Y2H9	MAST1_HUMAN	C	1423	ENSP00000251472:R1423C	ENSP00000251472:R1423C	R	+	1	0	MAST1	12846238	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.847000	0.39299	2.284000	0.76573	0.552000	0.68991	CGC		0.711	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1				7	30	0	0	0	0.00308	0	7	30		
NWD1	284434	broad.mit.edu	37	19	16908608	16908608	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:16908608G>A	ENST00000552788.1	+	14	3370	c.3370G>A	c.(3370-3372)Gat>Aat	p.D1124N	NWD1_ENST00000379808.3_Missense_Mutation_p.D1124N|NWD1_ENST00000524140.2_Missense_Mutation_p.D1124N|NWD1_ENST00000523826.1_Missense_Mutation_p.D918N|NWD1_ENST00000549814.1_Missense_Mutation_p.D1124N|NWD1_ENST00000339803.6_Missense_Mutation_p.D989N			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1124							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGGCCATGGATCTGGAACA	0.537																																						uc002neu.3		NaN																	0				skin(3)|ovary(2)|pancreas(2)	7						c.(3370-3372)GAT>AAT		RecName: Full=NACHT and WD repeat domain-containing protein 1;							279.0	256.0	264.0					19																	16908608		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16908608G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3370G>A	19.37:g.16908608G>A	ENSP00000447224:p.Asp1124Asn					NWD1_uc002net.3_Missense_Mutation_p.D989N|NWD1_uc002nev.3_Missense_Mutation_p.D918N	p.D1124N			Q149M9	NWD1_HUMAN			16	3792	+			1124					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3370G>A		.	.	.	.	.	.	.	.	.	.	G	10.42	1.345436	0.24426	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.65549	-0.16;0.71;-0.16;3.56;1.58;3.56	4.62	3.58	0.41010	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.403835	0.23780	N	0.044622	T	0.64951	0.2645	L	0.32530	0.975	0.09310	N	1	D;D;D	0.89917	0.996;0.999;1.0	P;D;D	0.80764	0.806;0.964;0.994	T	0.52917	-0.8511	10	0.52906	T	0.07	-25.6259	6.6081	0.22735	0.0979:0.1805:0.7217:0.0	.	1124;1124;989	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	N	989;1124;1124;1124;918;1124;989	ENSP00000428579:D1124N;ENSP00000447548:D1124N;ENSP00000369136:D1124N;ENSP00000428955:D918N;ENSP00000447224:D1124N;ENSP00000340159:D989N	ENSP00000340159:D989N	D	+	1	0	NWD1	16769608	0.926000	0.31397	0.034000	0.17996	0.011000	0.07611	2.044000	0.41241	1.164000	0.42652	-0.224000	0.12420	GAT		0.537	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1		NM_001007525		23	221	0	0	0	0.00333	0	23	221		
PGPEP1	54858	broad.mit.edu	37	19	18466806	18466806	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:18466806G>C	ENST00000269919.6	+	3	284	c.189G>C	c.(187-189)gaG>gaC	p.E63D	PGPEP1_ENST00000604499.2_Missense_Mutation_p.E63D|PGPEP1_ENST00000597431.2_Missense_Mutation_p.E63D|PGPEP1_ENST00000252813.5_5'UTR|PGPEP1_ENST00000595066.1_Missense_Mutation_p.E63D	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	63						cytosol (GO:0005829)	cysteine-type peptidase activity (GO:0008234)|pyroglutamyl-peptidase activity (GO:0016920)										CCCTGTGGGAGAAGCACAGTC	0.567																																						uc002nis.1		NaN																	0					0						c.(187-189)GAG>GAC		pyroglutamyl-peptidase I							120.0	94.0	103.0					19																	18466806		2203	4300	6503	SO:0001583	missense	54858						cysteine-type peptidase activity	g.chr19:18466806G>C	AJ278828	CCDS12375.1, CCDS74314.1	19p13.11	2012-07-25				ENSG00000130517	3.4.19.3		13568	protein-coding gene	gene with protein product	"""pyroglutamyl aminopeptidase"""	610694					Standard	XM_006722783		Approved	PGP-I, Pcp, PGP, PGPI	uc002nis.1	Q9NXJ5		ENST00000269919.6:c.189G>C	19.37:g.18466806G>C	ENSP00000269919:p.Glu63Asp					PGPEP1_uc002nir.1_RNA|PGPEP1_uc002nit.1_5'UTR|PGPEP1_uc010xqg.1_5'UTR	p.E63D	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN			3	273	+			63					A8K1Q3|Q8IVT1	Missense_Mutation	SNP	ENST00000269919.6	37	c.189G>C	CCDS12375.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881116	0.51801	.	.	ENSG00000130517	ENST00000269919	T	0.44482	0.92	5.36	4.27	0.50696	.	0.048876	0.85682	D	0.000000	T	0.28732	0.0712	N	0.25957	0.775	0.80722	D	1	B	0.33777	0.425	B	0.36808	0.233	T	0.06285	-1.0835	10	0.35671	T	0.21	-46.3884	7.3698	0.26794	0.226:0.0:0.774:0.0	.	63	Q9NXJ5	PGPI_HUMAN	D	63	ENSP00000269919:E63D	ENSP00000269919:E63D	E	+	3	2	PGPEP1	18327806	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.168000	0.31859	2.520000	0.84964	0.491000	0.48974	GAG		0.567	PGPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466327.3		NM_017712		5	100	0	0	0	0.001984	0	5	100		
CILP2	148113	broad.mit.edu	37	19	19655890	19655890	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:19655890C>T	ENST00000291495.5	+	8	2621	c.2536C>T	c.(2536-2538)Cgg>Tgg	p.R846W	CILP2_ENST00000586018.1_Missense_Mutation_p.R852W	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	846						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGGGTACCGTCGGACGGACCA	0.706																																						uc002nmv.3		NaN																	0				ovary(1)	1						c.(2536-2538)CGG>TGG		cartilage intermediate layer protein 2																																				SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655890C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2536C>T	19.37:g.19655890C>T	ENSP00000291495:p.Arg846Trp					CILP2_uc002nmw.3_Missense_Mutation_p.R852W	p.R846W	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	2621	+			846					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2536C>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616375	0.66672	.	.	ENSG00000160161	ENST00000291495	T	0.13420	2.59	5.2	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	M	0.68317	2.08	0.47819	D	0.999529	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.03761	-1.1006	10	0.87932	D	0	-32.1626	11.8486	0.52399	0.2532:0.7468:0.0:0.0	.	846;846	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	W	846	ENSP00000291495:R846W	ENSP00000291495:R846W	R	+	1	2	CILP2	19516890	0.167000	0.22975	0.976000	0.42696	0.891000	0.51852	0.702000	0.25631	2.446000	0.82766	0.555000	0.69702	CGG		0.706	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3		NM_153221		4	27	0	0	0	0.000602	0	4	27		
ZNF99	7652	broad.mit.edu	37	19	22952087	22952087	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:22952087G>C	ENST00000596209.1	-	2	133	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	ZNF99_ENST00000397104.3_Missense_Mutation_p.L36V	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	15	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACTCCTCCAGAGCGAATTCT	0.403																																						uc010xrh.1		NaN																	0				ovary(1)|skin(1)	2						c.(106-108)CTG>GTG		zinc finger protein 99							77.0	82.0	81.0					19																	22952087		2198	4300	6498	SO:0001583	missense	7652							g.chr19:22952087G>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.43C>G	19.37:g.22952087G>C	ENSP00000472969:p.Leu15Val						p.L36V	NM_001080409	NP_001073878					2	106	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.106C>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	4.363	0.066838	0.08388	.	.	ENSG00000213973	ENST00000397104	T	0.01821	4.62	1.05	-2.04	0.07343	Krueppel-associated box (4);	.	.	.	.	T	0.05777	0.0151	M	0.84773	2.715	0.09310	N	1	P	0.51240	0.943	P	0.55391	0.775	T	0.14811	-1.0459	9	0.32370	T	0.25	.	4.8228	0.13400	0.0:0.3925:0.6075:0.0	.	36	A8MXY4	ZNF99_HUMAN	V	36	ENSP00000380293:L36V	ENSP00000380293:L36V	L	-	1	2	ZNF99	22743927	0.048000	0.20356	0.005000	0.12908	0.005000	0.04900	-0.066000	0.11598	-0.494000	0.06669	-0.494000	0.04653	CTG		0.403	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1		XM_065124		11	99	0	0	0	0.013537	0	11	99		
CEP89	84902	broad.mit.edu	37	19	33444672	33444672	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:33444672G>A	ENST00000305768.5	-	4	429	c.341C>T	c.(340-342)tCt>tTt	p.S114F	CEP89_ENST00000590597.2_Missense_Mutation_p.S114F	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	114					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GGATGGCAAAGAAGATCTTCT	0.443																																						uc002nty.2		NaN																	0					0						c.(340-342)TCT>TTT		coiled-coil domain containing 123							156.0	122.0	134.0					19																	33444672		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33444672G>A	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.341C>T	19.37:g.33444672G>A	ENSP00000306105:p.Ser114Phe					CCDC123_uc002ntx.2_5'UTR|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.S114F|CCDC123_uc002nua.2_Missense_Mutation_p.S114F|CCDC123_uc002nub.1_Missense_Mutation_p.S6F	p.S114F	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN			4	430	-	Esophageal squamous(110;0.137)		114					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.341C>T	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349168	0.61183	.	.	ENSG00000121289	ENST00000305768	T	0.39787	1.06	5.08	5.08	0.68730	.	0.465817	0.22705	N	0.056642	T	0.63438	0.2511	M	0.71581	2.175	0.28861	N	0.895516	D;D;D	0.89917	1.0;0.999;0.994	D;D;D	0.85130	0.991;0.997;0.931	T	0.61088	-0.7133	10	0.72032	D	0.01	-12.175	14.3265	0.66523	0.0:0.0:1.0:0.0	.	85;114;114	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	F	114	ENSP00000306105:S114F	ENSP00000306105:S114F	S	-	2	0	CEP89	38136512	0.998000	0.40836	0.239000	0.24122	0.811000	0.45836	4.813000	0.62620	2.507000	0.84556	0.585000	0.79938	TCT		0.443	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2		NM_032816		9	91	0	0	0	0.007413	0	9	91		
KMT2B	9757	broad.mit.edu	37	19	36223466	36223466	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:36223466G>C	ENST00000222270.7	+	28	6016	c.6016G>C	c.(6016-6018)Gag>Cag	p.E2006Q	KMT2B_ENST00000420124.1_Missense_Mutation_p.E2006Q|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2006					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTTCCAGGAAGAGATTGTAGC	0.667																																						uc010eei.2		NaN																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(6016-6018)GAG>CAG		myeloid/lymphoid or mixed-lineage leukemia 4							26.0	31.0	29.0					19																	36223466		1971	4144	6115	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36223466G>C	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6016G>C	19.37:g.36223466G>C	ENSP00000222270:p.Glu2006Gln						p.E2006Q	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		29	6016	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		2006					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.6016G>C	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461626	0.26248	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84298	-1.83;-1.83	4.53	4.53	0.55603	.	0.000000	0.45361	D	0.000367	D	0.84946	0.5585	L	0.40543	1.245	0.30723	N	0.748059	D	0.58268	0.982	P	0.55545	0.778	T	0.80518	-0.1347	10	0.19147	T	0.46	.	14.6338	0.68676	0.0:0.0:1.0:0.0	.	2006	Q9UMN6	MLL4_HUMAN	Q	2006	ENSP00000222270:E2006Q;ENSP00000398837:E2006Q	ENSP00000222270:E2006Q	E	+	1	0	AD000671.1	40915306	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.326000	0.52037	2.515000	0.84797	0.462000	0.41574	GAG		0.667	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727		8	41	0	0	0	0.004482	0	8	41		
ZNF568	374900	broad.mit.edu	37	19	37441804	37441804	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:37441804G>A	ENST00000333987.7	+	7	2255	c.1749G>A	c.(1747-1749)gaG>gaA	p.E583E	ZNF568_ENST00000415168.1_Silent_p.E519E|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACAGGGGAGAAACCCTATG	0.378																																						uc002ofc.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1747-1749)GAG>GAA		zinc finger protein 568							73.0	84.0	80.0					19																	37441804		2192	4296	6488	SO:0001819	synonymous_variant	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37441804G>A	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1749G>A	19.37:g.37441804G>A						ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Silent_p.E507E|ZNF568_uc010efe.2_Silent_p.E507E|ZNF568_uc010eff.1_Intron	p.E583E	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		7	2264	+	Esophageal squamous(110;0.183)		583					B4DS92|E7ER33|Q6N060|Q8NA64	Silent	SNP	ENST00000333987.7	37	c.1749G>A	CCDS42558.1																																																																																				0.378	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2		NM_198539		5	93	0	0	0	0.001168	0	5	93		
MED29	55588	broad.mit.edu	37	19	39880314	39880314	+	5'Flank	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:39880314G>A	ENST00000599213.2	+	0	0				PAF1_ENST00000595564.1_Silent_p.L76L|PAF1_ENST00000221266.7_Silent_p.L76L|MED29_ENST00000594368.1_5'Flank|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221265.3_Silent_p.L86L			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAGGATTGATGAGATCGATGG	0.572																																						uc002old.2		NaN																	0				pancreas(1)	1						c.(256-258)CTC>CTT		Paf1, RNA polymerase II associated factor,							160.0	132.0	142.0					19																	39880314		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39880314G>A	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880314G>A	Exception_encountered					PAF1_uc002ole.1_Silent_p.L76L|PAF1_uc010xuv.1_Intron|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	p.L86L	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		4	433	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		86					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	ENST00000599213.2	37	c.258C>T																																																																																					0.572	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1		XM_290829		7	96	0	0	0	0.00308	0	7	96		
MIA	8190	broad.mit.edu	37	19	41281508	41281508	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:41281508G>A	ENST00000263369.3	+	1	227	c.61G>A	c.(61-63)Ggt>Agt	p.G21S	RAB4B_ENST00000594800.1_5'Flank|RAB4B_ENST00000357052.2_5'Flank|MIA_ENST00000594436.1_Missense_Mutation_p.G21S|RAB4B-EGLN2_ENST00000594136.1_5'Flank|MIA_ENST00000597784.1_Missense_Mutation_p.G21S|MIA-RAB4B_ENST00000600729.1_Missense_Mutation_p.G21S	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	21					cell proliferation (GO:0008283)	extracellular space (GO:0005615)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		CTCCGGACCTGGTGTCAGGGG	0.622																																						uc002opb.3		NaN																	0					0						c.(61-63)GGT>AGT		melanoma inhibitory activity precursor							154.0	128.0	137.0					19																	41281508		2203	4300	6503	SO:0001583	missense	8190				cell proliferation	extracellular space	growth factor activity	g.chr19:41281508G>A	X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.61G>A	19.37:g.41281508G>A	ENSP00000263369:p.Gly21Ser					MIA_uc010xvt.1_RNA|RAB4B_uc002opc.1_5'Flank|RAB4B_uc002opd.1_5'Flank|RAB4B_uc002ope.1_5'Flank|EGLN2_uc010ehd.2_5'Flank	p.G21S	NM_006533	NP_006524	Q16674	MIA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)	1	209	+			21					Q6FHV3	Missense_Mutation	SNP	ENST00000263369.3	37	c.61G>A	CCDS12566.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.878709	0.00537	.	.	ENSG00000167578	ENST00000419646;ENST00000263369	T	0.39787	1.06	4.17	-1.75	0.08031	.	0.816445	0.10637	N	0.651479	T	0.13841	0.0335	N	0.03177	-0.4	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30966	-0.9960	10	0.05620	T	0.96	.	5.5776	0.17233	0.3005:0.0:0.5141:0.1854	.	21	Q16674	MIA_HUMAN	S	21	ENSP00000263369:G21S	ENSP00000263369:G21S	G	+	1	0	RAB4B	45973348	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	0.411000	0.21115	-0.317000	0.08677	-0.397000	0.06425	GGT		0.622	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463162.1				8	194	0	0	0	0.006214	0	8	194		
ARHGEF1	9138	broad.mit.edu	37	19	42392170	42392170	+	Missense_Mutation	SNP	G	G	C	rs183598386		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:42392170G>C	ENST00000354532.3	+	2	165	c.17G>C	c.(16-18)cGa>cCa	p.R6P	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R6P|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R21P|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R6P|ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R21P	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	6					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GACTTCGCCCGAGGGGCGGTG	0.657																																						uc002orx.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(16-18)CGA>CCA		Rho guanine nucleotide exchange factor 1 isoform							75.0	87.0	83.0					19																	42392170		2203	4300	6503	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42392170G>C	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.17G>C	19.37:g.42392170G>C	ENSP00000346532:p.Arg6Pro					ARHGEF1_uc002orw.1_Missense_Mutation_p.R6P|ARHGEF1_uc002ory.2_Missense_Mutation_p.R6P|ARHGEF1_uc002orz.2_5'UTR|ARHGEF1_uc002osa.2_Missense_Mutation_p.R21P|ARHGEF1_uc002osb.2_Missense_Mutation_p.R21P	p.R6P	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	2	126	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	6					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.17G>C	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	g	13.10	2.136901	0.37728	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000316079;ENST00000337665;ENST00000378152	T;T;T;T	0.66638	-0.03;-0.03;-0.04;-0.22	3.76	2.67	0.31697	.	1.319570	0.05633	U	0.582024	T	0.51991	0.1707	N	0.14661	0.345	0.21445	N	0.999684	B;B;B;B;B	0.12630	0.001;0.0;0.0;0.0;0.006	B;B;B;B;B	0.10450	0.002;0.001;0.001;0.001;0.005	T	0.45220	-0.9276	10	0.56958	D	0.05	-0.6177	9.307	0.37881	0.0:0.2214:0.7786:0.0	.	21;21;6;6;66	Q6NX52;Q92888-3;Q92888-2;Q92888;Q8NF33	.;.;.;ARHG1_HUMAN;.	P	6;6;42;21;21	ENSP00000346532:R6P;ENSP00000344429:R6P;ENSP00000337261:R21P;ENSP00000367394:R21P	ENSP00000323044:R42P	R	+	2	0	ARHGEF1	47084010	0.192000	0.23301	0.982000	0.44146	0.903000	0.53119	3.166000	0.50785	0.678000	0.31325	0.399000	0.26434	CGA		0.657	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1		NM_199002		4	24	0	0	0	0.000602	0	4	24		
ATP1A3	478	broad.mit.edu	37	19	42474362	42474362	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:42474362G>C	ENST00000302102.5	-	18	2667	c.2517C>G	c.(2515-2517)ctC>ctG	p.L839L	ATP1A3_ENST00000602133.1_Silent_p.L809L|ATP1A3_ENST00000545399.1_Silent_p.L852L|ATP1A3_ENST00000543770.1_Silent_p.L850L	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	839					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCATGCTGATGAGTCTCTCAT	0.612																																						uc002osg.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(2515-2517)CTC>CTG		Na+/K+ -ATPase alpha 3 subunit							113.0	96.0	101.0					19																	42474362		2203	4300	6503	SO:0001819	synonymous_variant	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42474362G>C		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2517C>G	19.37:g.42474362G>C						ATP1A3_uc010xwf.1_Silent_p.L850L|ATP1A3_uc010xwg.1_Silent_p.L809L|ATP1A3_uc010xwh.1_Silent_p.L852L|ATP1A3_uc002osh.2_Silent_p.L839L	p.L839L	NM_152296	NP_689509	P13637	AT1A3_HUMAN			18	2671	-			839			Helical; (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	c.2517C>G	CCDS12594.1																																																																																				0.612	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1		NM_152296		7	66	0	0	0	0.00308	0	7	66		
ZNF526	116115	broad.mit.edu	37	19	42728808	42728808	+	Missense_Mutation	SNP	G	G	A	rs576762112		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:42728808G>A	ENST00000301215.3	+	3	478	c.253G>A	c.(253-255)Gag>Aag	p.E85K		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGCTGTCTCAGAGGAGGAGGC	0.582																																						uc002osz.1		NaN																	0					0						c.(253-255)GAG>AAG		zinc finger protein 526							81.0	76.0	77.0					19																	42728808		2203	4300	6503	SO:0001583	missense	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42728808G>A	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.253G>A	19.37:g.42728808G>A	ENSP00000301215:p.Glu85Lys						p.E85K	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN			3	409	+		Prostate(69;0.0704)	85					B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	c.253G>A	CCDS12598.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559385	0.45590	.	.	ENSG00000167625	ENST00000301215	T	0.11712	2.75	4.59	2.33	0.28932	.	0.000000	0.38720	N	0.001600	T	0.07503	0.0189	N	0.24115	0.695	0.28112	N	0.930978	P	0.34522	0.455	B	0.32465	0.146	T	0.20075	-1.0286	9	.	.	.	-14.6929	13.8624	0.63569	0.0:0.2909:0.7091:0.0	.	85	Q8TF50	ZN526_HUMAN	K	85	ENSP00000301215:E85K	.	E	+	1	0	ZNF526	47420648	1.000000	0.71417	0.539000	0.28077	0.885000	0.51271	2.915000	0.48805	0.602000	0.29896	0.462000	0.41574	GAG		0.582	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2		XM_057401		9	55	0	0	0	0.004482	0	9	55		
ZNF404	342908	broad.mit.edu	37	19	44377405	44377405	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:44377405G>A	ENST00000587539.1	-	3	960	c.961C>T	c.(961-963)Cat>Tat	p.H321Y	ZNF404_ENST00000324394.6_Missense_Mutation_p.H319Y	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TCACCAGTATGACTTCTTTGA	0.373																																						uc002oxs.3		NaN																	0					0						c.(952-954)CAT>TAT		zinc finger protein 404							58.0	64.0	62.0					19																	44377405		2090	4253	6343	SO:0001583	missense	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377405G>A	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.961C>T	19.37:g.44377405G>A	ENSP00000466051:p.His321Tyr						p.H318Y	NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN			2	961	-		Prostate(69;0.0352)	321			C2H2-type 7.		A4FU30|K7ELF2	Missense_Mutation	SNP	ENST00000587539.1	37	c.952C>T	CCDS59394.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697942	0.30142	.	.	ENSG00000176222	ENST00000324394	T	0.67523	-0.27	1.87	0.816	0.18768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83330	0.5231	M	0.93808	3.46	0.24173	N	0.995614	D	0.89917	1.0	D	0.97110	1.0	T	0.70121	-0.4959	9	0.87932	D	0	.	7.6005	0.28073	0.1475:0.0:0.8525:0.0	.	321	Q494X3	ZN404_HUMAN	Y	319	ENSP00000319479:H319Y	ENSP00000319479:H319Y	H	-	1	0	ZNF404	49069245	1.000000	0.71417	0.983000	0.44433	0.161000	0.22273	4.276000	0.58933	0.339000	0.23719	0.195000	0.17529	CAT		0.373	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1		NM_001033719		5	50	0	0	0	0.001168	0	5	50		
ZNF155	7711	broad.mit.edu	37	19	44500376	44500376	+	Missense_Mutation	SNP	C	C	G	rs138952990		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:44500376C>G	ENST00000270014.2	+	5	495	c.367C>G	c.(367-369)Cag>Gag	p.Q123E	ZNF155_ENST00000590615.1_Missense_Mutation_p.Q123E|ZNF155_ENST00000407951.2_Missense_Mutation_p.Q134E|RP11-15A1.7_ENST00000586860.1_RNA|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	123					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)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AAATAACTCTCAGTTCTTTGA	0.463																																					NSCLC(61;554 1277 20909 42067 42312)	uc002oxy.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(367-369)CAG>GAG		zinc finger protein 155							80.0	79.0	79.0					19																	44500376		2203	4300	6503	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44500376C>G	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.367C>G	19.37:g.44500376C>G	ENSP00000270014:p.Gln123Glu					ZNF155_uc002oxz.1_Missense_Mutation_p.Q123E|ZNF155_uc010xwt.1_Missense_Mutation_p.Q134E	p.Q123E	NM_003445	NP_003436	Q12901	ZN155_HUMAN			5	572	+		Prostate(69;0.0352)	123					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.367C>G	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	C	2.459	-0.324627	0.05350	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.04862	3.56;3.54	1.95	-0.577	0.11727	.	.	.	.	.	T	0.04003	0.0112	N	0.24115	0.695	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.12837	0.004;0.008	T	0.43081	-0.9413	9	0.35671	T	0.21	.	4.2591	0.10732	0.2218:0.63:0.0:0.1482	.	134;123	B4DM95;Q12901	.;ZN155_HUMAN	E	134;123	ENSP00000385163:Q134E;ENSP00000270014:Q123E	ENSP00000270014:Q123E	Q	+	1	0	ZNF155	49192216	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.705000	0.05052	-0.050000	0.13356	-0.535000	0.04281	CAG		0.463	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1		NM_003445		7	100	0	0	0	0.001984	0	7	100		
IRF2BP1	26145	broad.mit.edu	37	19	46387392	46387392	+	Silent	SNP	C	C	T	rs367730044		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:46387392C>T	ENST00000302165.3	-	1	1984	c.1641G>A	c.(1639-1641)ccG>ccA	p.P547P		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	547	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TGTCTCCGCTCGGGCAGTACA	0.637																																						uc002pds.1		NaN																	0					0						c.(1639-1641)CCG>CCA		interferon regulatory factor 2 binding protein		C		1,4403	2.1+/-5.4	0,1,2201	40.0	40.0	40.0		1641	1.1	1.0	19		40	0,8600		0,0,4300	no	coding-synonymous	IRF2BP1	NM_015649.1		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		547/585	46387392	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46387392C>T	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.1641G>A	19.37:g.46387392C>T							p.P547P	NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	1985	-		all_neural(266;0.113)|Ovarian(192;0.127)	547			Cys-rich.		Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Silent	SNP	ENST00000302165.3	37	c.1641G>A	CCDS12678.1																																																																																				0.637	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1		NM_015649		4	37	0	0	0	0.001168	0	4	37		
TSKS	60385	broad.mit.edu	37	19	50243088	50243088	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:50243088C>A	ENST00000246801.3	-	11	1806	c.1724G>T	c.(1723-1725)gGa>gTa	p.G575V	TSKS_ENST00000358830.3_Missense_Mutation_p.G375V	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	575					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ACTGCTGCCTCCCCCCATTGT	0.552																																						uc002ppm.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(1723-1725)GGA>GTA		testis-specific kinase substrate							103.0	102.0	102.0					19																	50243088		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50243088C>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1724G>T	19.37:g.50243088C>A	ENSP00000246801:p.Gly575Val						p.G575V	NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	11	1735	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	575					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1724G>T	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406625	0.42715	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.30182	1.54;1.54	4.89	4.89	0.63831	.	0.313368	0.22912	N	0.054126	T	0.41396	0.1157	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.38972	-0.9636	10	0.87932	D	0	-3.0646	13.5498	0.61726	0.0:1.0:0.0:0.0	.	575	Q9UJT2	TSKS_HUMAN	V	575;375	ENSP00000246801:G575V;ENSP00000351691:G375V	ENSP00000246801:G575V	G	-	2	0	TSKS	54934900	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	1.954000	0.40362	2.275000	0.75901	0.609000	0.83330	GGA		0.552	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1		NM_021733		13	102	1	0	0.000219431	0.00245	0.000228178	13	102		
ZNF528	84436	broad.mit.edu	37	19	52909217	52909217	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:52909217C>A	ENST00000360465.3	+	5	499	c.73C>A	c.(73-75)Ctg>Atg	p.L25M	ZNF528_ENST00000598192.1_Missense_Mutation_p.L25M|ZNF528_ENST00000391788.2_Missense_Mutation_p.L15M|ZNF528_ENST00000594530.1_Missense_Mutation_p.L25M	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GTGGAAATGCCTGGACCCTGC	0.488																																						uc002pzh.2		NaN																	0				ovary(1)|skin(1)	2						c.(73-75)CTG>ATG		zinc finger protein 528							177.0	175.0	175.0					19																	52909217		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52909217C>A	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.73C>A	19.37:g.52909217C>A	ENSP00000353652:p.Leu25Met					ZNF528_uc002pzi.2_Translation_Start_Site	p.L25M	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	5	499	+			25			KRAB.		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.73C>A	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355845	0.24598	.	.	ENSG00000167555	ENST00000391788;ENST00000391787;ENST00000360465	T;T;T	0.18960	2.18;2.18;2.18	2.08	1.02	0.19986	Krueppel-associated box (4);	.	.	.	.	T	0.51109	0.1655	H	0.95114	3.625	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.32455	-0.9906	9	0.66056	D	0.02	.	3.8415	0.08917	0.24:0.6028:0.0:0.1572	.	25	Q3MIS6	ZN528_HUMAN	M	15;25;25	ENSP00000375665:L15M;ENSP00000375664:L25M;ENSP00000353652:L25M	ENSP00000353652:L25M	L	+	1	2	ZNF528	57601029	0.551000	0.26497	0.156000	0.22583	0.502000	0.33828	0.437000	0.21543	1.141000	0.42275	0.491000	0.48974	CTG		0.488	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1		NM_032423		42	145	1	0	8.69298e-16	0.006999	9.57025e-16	42	145		
DNAAF3	352909	broad.mit.edu	37	19	55672075	55672075	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:55672075C>T	ENST00000524407.2	-	9	1014	c.981G>A	c.(979-981)gcG>gcA	p.A327A	DNAAF3_ENST00000587789.2_5'Flank|DNAAF3_ENST00000527223.2_Silent_p.A395A|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Silent_p.A374A|TNNI3_ENST00000344887.5_5'Flank|TNNI3_ENST00000590463.1_5'Flank|CTD-2587H24.4_ENST00000587871.1_5'Flank|DNAAF3_ENST00000455045.1_Silent_p.A273A			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	327					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CGGTGGCTCTCGCGCGCCCCC	0.682											OREG0025678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002qji.1		NaN																	0					0						c.(979-981)GCG>GCA		RecName: Full=UPF0470 protein C19orf51;							56.0	59.0	58.0					19																	55672075		1910	4113	6023	SO:0001819	synonymous_variant	352909							g.chr19:55672075C>T	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.981G>A	19.37:g.55672075C>T			OREG0025678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1009	TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Silent_p.A142A|C19orf51_uc002qjj.1_Silent_p.A374A|C19orf51_uc002qjk.1_Silent_p.A273A|C19orf51_uc002qjl.1_Silent_p.A395A	p.A327A			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	9	1015	-			327					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Silent	SNP	ENST00000524407.2	37	c.981G>A	CCDS59422.1																																																																																				0.682	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5		NM_178837		7	61	0	0	0	0.00308	0	7	61		
NLRP8	126205	broad.mit.edu	37	19	56466276	56466276	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:56466276C>G	ENST00000291971.3	+	3	923	c.852C>G	c.(850-852)ctC>ctG	p.L284L	NLRP8_ENST00000590542.1_Silent_p.L284L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	284	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCTGCTGCTCTTGGATGGCT	0.522																																						uc002qmh.2		NaN																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(850-852)CTC>CTG		NLR family, pyrin domain containing 8							176.0	171.0	173.0					19																	56466276		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56466276C>G	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.852C>G	19.37:g.56466276C>G						NLRP8_uc010etg.2_Silent_p.L284L	p.L284L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	923	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	284			NACHT.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.852C>G	CCDS12937.1																																																																																				0.522	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1		NM_176811		26	183	0	0	0	0.008361	0	26	183		
PEG3	5178	broad.mit.edu	37	19	57328268	57328268	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:57328268G>A	ENST00000326441.9	-	10	1905	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.F514F|PEG3_ENST00000593695.1_Silent_p.F388F|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.F390F|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	514					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACTCTTATTGAAGGTCTCTC	0.458																																						uc002qnu.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1540-1542)TTC>TTT		paternally expressed 3 isoform 1							195.0	194.0	194.0					19																	57328268		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328268G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1542C>T	19.37:g.57328268G>A						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.F485F|PEG3_uc002qnv.2_Silent_p.F514F|PEG3_uc002qnw.2_Silent_p.F390F|PEG3_uc002qnx.2_Silent_p.F388F|PEG3_uc010etr.2_Silent_p.F514F	p.F514F	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1893	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	514			C2H2-type 2.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.1542C>T	CCDS12948.1																																																																																				0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2				25	105	0	0	0	0.008361	0	25	105		
ZNF543	125919	broad.mit.edu	37	19	57840469	57840469	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:57840469G>A	ENST00000321545.4	+	4	1984	c.1639G>A	c.(1639-1641)Ggc>Agc	p.G547S		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G547R(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTTAATCGCGGCTCATCCCT	0.463																																						uc002qoi.1		NaN																	1	Substitution - Missense(1)		lung(1)	skin(1)|pancreas(1)	2						c.(1639-1641)GGC>AGC		zinc finger protein 543							95.0	88.0	90.0					19																	57840469		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57840469G>A	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1639G>A	19.37:g.57840469G>A	ENSP00000322545:p.Gly547Ser						p.G547S	NM_213598	NP_998763	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1984	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	547			C2H2-type 13.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.1639G>A	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.770180	0.00081	.	.	ENSG00000178229	ENST00000321545	T	0.26373	1.74	2.87	0.609	0.17575	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05868	0.0153	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36237	-0.9756	9	0.10636	T	0.68	.	1.1008	0.01683	0.5128:0.1892:0.1141:0.1839	.	547	Q08ER8	ZN543_HUMAN	S	547	ENSP00000322545:G547S	ENSP00000322545:G547S	G	+	1	0	ZNF543	62532281	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	0.247000	0.18179	-0.064000	0.13043	-0.487000	0.04747	GGC		0.463	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1		XM_064865		5	74	0	0	0	0.001984	0	5	74		
ZNF749	388567	broad.mit.edu	37	19	57956103	57956104	+	Missense_Mutation	DNP	TG	TG	CC			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:57956103_57956104TG>CC	ENST00000334181.4	+	3	1837_1838	c.1587_1588TG>CC	c.(1585-1590)caTGag>caCCag	p.E530Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCATGAGAAAATCCA	0.45																																						uc002qoq.2		NaN																	0					0						c.(1585-1590)CATGAG>CACCAG		zinc finger protein 749																																				SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956103_57956104TG>CC	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	Exception_encountered	19.37:g.57956103_57956104delinsCC	ENSP00000333980:p.Glu530Gln					ZNF547_uc002qpm.3_Intron	p.E530Q	NM_001023561	NP_001018855	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1841_1842	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	530			C2H2-type 12.			Missense_Mutation	DNP	ENST00000334181.4	37	c.1587_1588TG>CC	CCDS33132.2																																																																																				0.450	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1		NM_001023561		3	89	0	0	0	0.004672	0	3	89		
WDR35	57539	broad.mit.edu	37	2	20138060	20138060	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:20138060G>A	ENST00000345530.3	-	19	2177	c.2062C>T	c.(2062-2064)Cag>Tag	p.Q688*	WDR35_ENST00000281405.4_Nonsense_Mutation_p.Q677*|WDR35_ENST00000416055.2_Nonsense_Mutation_p.Q253*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	688					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTATGAACTGAGATGCATCT	0.418																																						uc002rdi.2		NaN																	0				ovary(1)	1						c.(2062-2064)CAG>TAG		WD repeat domain 35 isoform 1							128.0	127.0	127.0					2																	20138060		2203	4300	6503	SO:0001587	stop_gained	57539							g.chr2:20138060G>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2062C>T	2.37:g.20138060G>A	ENSP00000314444:p.Gln688*					WDR35_uc002rdj.2_Nonsense_Mutation_p.Q677*|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Nonsense_Mutation_p.Q253*|WDR35_uc002rdk.3_Nonsense_Mutation_p.Q253*	p.Q688*	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			19	2170	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		688					B3KVI5|Q4ZG01|Q8NE11	Nonsense_Mutation	SNP	ENST00000345530.3	37	c.2062C>T	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	G	39	7.602341	0.98384	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-13.9346	18.5225	0.90959	0.0:0.0:1.0:0.0	.	.	.	.	X	688;677;253;223	.	ENSP00000281405:Q677X	Q	-	1	0	WDR35	20001541	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	9.837000	0.99465	2.641000	0.89580	0.591000	0.81541	CAG		0.418	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2		NM_020779		5	99	0	0	0	0.001984	0	5	99		
PFN4	375189	broad.mit.edu	37	2	24345319	24345319	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:24345319C>G	ENST00000313213.4	-	2	458	c.87G>C	c.(85-87)cgG>cgC	p.R29R	PFN4_ENST00000465360.1_Intron|RP11-507M3.1_ENST00000584973.1_5'Flank|FAM228B_ENST00000407625.1_5'Flank|FAM228B_ENST00000420135.2_5'Flank	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	29					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACACAAGCTCCGCTCCTGGA	0.413																																						uc002rfa.1		NaN																	0				ovary(1)	1						c.(85-87)CGG>CGC		profilin family, member 4							145.0	147.0	146.0					2																	24345319		2203	4300	6503	SO:0001819	synonymous_variant	375189				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding	g.chr2:24345319C>G	BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.87G>C	2.37:g.24345319C>G						LOC375190_uc002rew.2_Intron|LOC375190_uc010ykl.1_5'Flank|LOC375190_uc002rfb.2_5'Flank	p.R29R	NM_199346	NP_955378	Q8NHR9	PROF4_HUMAN			2	263	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		29					Q53TL9	Silent	SNP	ENST00000313213.4	37	c.87G>C	CCDS1709.1																																																																																				0.413	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207617.2		NM_199346		8	103	0	0	0	0.008291	0	8	103		
ITSN2	50618	broad.mit.edu	37	2	24484496	24484496	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:24484496G>A	ENST00000355123.4	-	21	2914	c.2471C>T	c.(2470-2472)gCt>gTt	p.A824V	ITSN2_ENST00000361999.3_Missense_Mutation_p.A797V|ITSN2_ENST00000406921.3_Missense_Mutation_p.A824V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	824				KAVSPK -> FAAAST (in Ref. 6; AAD00899). {ECO:0000305}.	endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGATACAGCTTTTTCATT	0.363																																						uc002rfe.2		NaN																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(2470-2472)GCT>GTT		intersectin 2 isoform 1							136.0	139.0	138.0					2																	24484496		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24484496G>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2471C>T	2.37:g.24484496G>A	ENSP00000347244:p.Ala824Val					ITSN2_uc002rff.2_Missense_Mutation_p.A797V|ITSN2_uc002rfg.2_Missense_Mutation_p.A824V	p.A824V	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			21	2729	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		824	KAVSPK -> FAAAST (in Ref. 6; AAD00899).				O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.2471C>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	14.29	2.489825	0.44249	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.31769	1.48;1.56;1.48;1.56	4.96	4.06	0.47325	Src homology-3 domain (1);	0.446973	0.15525	U	0.257810	T	0.19406	0.0466	N	0.14661	0.345	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.10753	-1.0616	10	0.51188	T	0.08	.	11.9392	0.52890	0.1408:0.0:0.8592:0.0	.	824;797;824	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	V	797;824;797;824	ENSP00000354561:A797V;ENSP00000347244:A824V;ENSP00000370250:A797V;ENSP00000384499:A824V	ENSP00000347244:A824V	A	-	2	0	ITSN2	24338000	0.893000	0.30496	0.502000	0.27614	0.985000	0.73830	5.026000	0.64103	2.494000	0.84150	0.561000	0.74099	GCT		0.363	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277		8	66	0	0	0	0.004482	0	8	66		
ZNF513	130557	broad.mit.edu	37	2	27600473	27600473	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:27600473G>A	ENST00000323703.6	-	4	1763	c.1565C>T	c.(1564-1566)tCt>tTt	p.S522F	ZNF513_ENST00000407879.1_Missense_Mutation_p.S460F|ZNF513_ENST00000491924.1_5'Flank	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	522					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGCCCCGAGAGCTCAAAAC	0.632																																						uc002rkk.2		NaN																	0				ovary(1)	1						c.(1564-1566)TCT>TTT		zinc finger protein 513							42.0	46.0	45.0					2																	27600473		2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600473G>A	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1565C>T	2.37:g.27600473G>A	ENSP00000318373:p.Ser522Phe					ZNF513_uc002rkj.2_Missense_Mutation_p.S460F	p.S522F	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			4	1765	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		522					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.1565C>T	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251321	0.22880	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.06768	3.3;3.26	4.61	4.61	0.57282	.	0.302311	0.24018	N	0.042319	T	0.05181	0.0138	N	0.08118	0	0.26424	N	0.976051	B	0.22480	0.07	B	0.22386	0.039	T	0.28459	-1.0043	10	0.87932	D	0	-2.5212	11.3209	0.49421	0.0:0.2975:0.7025:0.0	.	522	Q8N8E2	ZN513_HUMAN	F	522;460	ENSP00000318373:S522F;ENSP00000384874:S460F	ENSP00000318373:S522F	S	-	2	0	ZNF513	27453977	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.468000	0.60162	2.388000	0.81334	0.561000	0.74099	TCT		0.632	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2		NM_144631		5	49	0	0	0	0.000602	0	5	49		
EIF2AK2	5610	broad.mit.edu	37	2	37374916	37374916	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:37374916C>G	ENST00000233057.4	-	3	356	c.34G>C	c.(34-36)Gag>Cag	p.E12Q	EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E12Q|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E12Q	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	12	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TTAAGTTCCTCCATGAAGAAA	0.398																																						uc010ynh.1		NaN																	0				ovary(2)|lung(2)|pancreas(1)	5						c.(34-36)GAG>CAG		eukaryotic translation initiation factor 2-alpha							124.0	126.0	126.0					2																	37374916		2203	4300	6503	SO:0001583	missense	5610				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	g.chr2:37374916C>G	BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.34G>C	2.37:g.37374916C>G	ENSP00000233057:p.Glu12Gln					EIF2AK2_uc010fab.1_Missense_Mutation_p.E12Q|EIF2AK2_uc010yng.1_Missense_Mutation_p.E12Q|EIF2AK2_uc010fac.2_Missense_Mutation_p.E12Q|EIF2AK2_uc010fad.2_Missense_Mutation_p.E12Q	p.E12Q	NM_002759	NP_002750	P19525	E2AK2_HUMAN			3	591	-		all_hematologic(82;0.248)	12			DRBM 1.		A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	ENST00000233057.4	37	c.34G>C	CCDS1786.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160591	0.38119	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156;ENST00000411537;ENST00000390013	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.32	4.39	0.52855	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.504303	0.17831	N	0.160560	T	0.79828	0.4513	L	0.35288	1.05	0.09310	N	1	D;D;D;D	0.67145	0.996;0.996;0.996;0.992	D;D;D;P	0.64042	0.921;0.921;0.921;0.815	T	0.70117	-0.4960	10	0.56958	D	0.05	-17.443	11.8441	0.52374	0.1741:0.8259:0.0:0.0	.	12;12;12;12	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	Q	12	ENSP00000233057:E12Q;ENSP00000378559:E12Q;ENSP00000385014:E12Q;ENSP00000393921:E12Q;ENSP00000374663:E12Q	ENSP00000233057:E12Q	E	-	1	0	EIF2AK2	37228420	0.146000	0.22672	0.703000	0.30354	0.256000	0.26092	1.819000	0.39022	2.648000	0.89879	0.650000	0.86243	GAG		0.398	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218571.2		NM_002759		16	127	0	0	0	0.008871	0	16	127		
PLEKHH2	130271	broad.mit.edu	37	2	43968150	43968150	+	Silent	SNP	C	C	G	rs563140716		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:43968150C>G	ENST00000282406.4	+	21	3299	c.3189C>G	c.(3187-3189)ctC>ctG	p.L1063L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1063	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTGGCTCCTCAGGCTTCACC	0.507																																						uc010yny.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(3187-3189)CTC>CTG		pleckstrin homology domain containing, family H							155.0	130.0	138.0					2																	43968150		2203	4300	6503	SO:0001819	synonymous_variant	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43968150C>G	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3189C>G	2.37:g.43968150C>G						PLEKHH2_uc002rtf.3_Silent_p.L1062L	p.L1063L	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			21	3272	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1063			MyTH4.|Helical; (Potential).		Q5JPJ6|Q6P4Q1|Q8N3Q3	Silent	SNP	ENST00000282406.4	37	c.3189C>G	CCDS1812.1																																																																																				0.507	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069		12	76	0	0	0	0.001855	0	12	76		
CCDC88A	55704	broad.mit.edu	37	2	55561583	55561583	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:55561583C>T	ENST00000436346.1	-	15	3215	c.2374G>A	c.(2374-2376)Gaa>Aaa	p.E792K	CCDC88A_ENST00000336838.6_Missense_Mutation_p.E792K|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E792K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E792K|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	792					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTTTGATTTTCCATCTCTAAG	0.318																																						uc002ryv.2		NaN																	0				ovary(2)|skin(2)	4						c.(2374-2376)GAA>AAA		coiled-coil domain containing 88A isoform 1							89.0	88.0	88.0					2																	55561583		2202	4298	6500	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55561583C>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.2374G>A	2.37:g.55561583C>T	ENSP00000410608:p.Glu792Lys					CCDC88A_uc010yoz.1_Missense_Mutation_p.E792K|CCDC88A_uc010ypa.1_Missense_Mutation_p.E792K|CCDC88A_uc010ypb.1_Missense_Mutation_p.E694K|CCDC88A_uc002ryu.2_Missense_Mutation_p.E75K|CCDC88A_uc002ryw.2_Missense_Mutation_p.E75K	p.E792K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			15	3216	-			792			Potential.		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.2374G>A		.	.	.	.	.	.	.	.	.	.	C	24.4	4.524262	0.85600	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.17370	2.28;2.49;2.49;2.29	5.03	5.03	0.67393	.	0.000000	0.49305	U	0.000146	T	0.46502	0.1396	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.99;0.998;0.998	D;D;D;D;D	0.80764	0.912;0.991;0.912;0.96;0.994	T	0.49214	-0.8963	10	0.59425	D	0.04	-18.8888	18.7919	0.91976	0.0:1.0:0.0:0.0	.	792;792;792;792;792	B7ZM78;Q3V6T2-2;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;GRDN_HUMAN;.;.	K	792	ENSP00000338728:E792K;ENSP00000263630:E792K;ENSP00000410608:E792K;ENSP00000404431:E792K	ENSP00000263630:E792K	E	-	1	0	CCDC88A	55415087	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.773000	0.85462	2.515000	0.84797	0.449000	0.29647	GAA		0.318	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding			NM_017571		3	40	0	0	0	0.009096	0	3	40		
GKN2	200504	broad.mit.edu	37	2	69173523	69173523	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:69173523C>T	ENST00000328895.4	-	5	493	c.385G>A	c.(385-387)Gac>Aac	p.D129N	GKN2_ENST00000481498.1_Missense_Mutation_p.D129N	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	129	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					extracellular region (GO:0005576)		p.D129Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						CAATCCACGTCTTTGATCAGA	0.443																																						uc002sfa.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(385-387)GAC>AAC		trefoil factor interactions(z) 1 precursor							200.0	188.0	192.0					2																	69173523		2203	4300	6503	SO:0001583	missense	200504					extracellular region		g.chr2:69173523C>T	AF494509	CCDS33215.1	2p14	2012-10-10			ENSG00000183607	ENSG00000183607		"""BRICHOS domain containing"""	24588	protein-coding gene	gene with protein product	"""down regulated in gastric cancer GDDR"", ""BRICHOS domain containing 1B"""					15774165, 15924415, 16888721	Standard	NM_182536		Approved	TFIZ1, PRO813, VLTI465, blottin, GDDR, BRICD1B	uc002sfa.3	Q86XP6	OTTHUMG00000152655	ENST00000328895.4:c.385G>A	2.37:g.69173523C>T	ENSP00000329292:p.Asp129Asn					GKN2_uc002sfb.3_Missense_Mutation_p.D129N	p.D129N	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN			5	494	-			129			BRICHOS.		Q6UWS6	Missense_Mutation	SNP	ENST00000328895.4	37	c.385G>A	CCDS33215.1	.	.	.	.	.	.	.	.	.	.	C	3.182	-0.167768	0.06461	.	.	ENSG00000183607	ENST00000328895;ENST00000481498	T;T	0.78481	-1.18;-1.18	4.73	-3.66	0.04489	BRICHOS (2);	1.018850	0.07828	N	0.960866	T	0.50837	0.1639	N	0.04959	-0.14	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.14578	0.004;0.011	T	0.33879	-0.9851	10	0.14252	T	0.57	-22.8235	6.3185	0.21204	0.0:0.1957:0.4844:0.3199	.	129;129	E5RHQ8;Q86XP6	.;GKN2_HUMAN	N	129	ENSP00000329292:D129N;ENSP00000428538:D129N	ENSP00000329292:D129N	D	-	1	0	GKN2	69027027	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.312000	0.02720	-1.097000	0.03042	0.555000	0.69702	GAC		0.443	GKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327191.1		NM_182536		11	207	0	0	0	0.00245	0	11	207		
ANXA4	307	broad.mit.edu	37	2	70037783	70037783	+	Missense_Mutation	SNP	G	G	A	rs144937233		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:70037783G>A	ENST00000394295.4	+	7	703	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	ANXA4_ENST00000536030.1_Missense_Mutation_p.R68Q|ANXA4_ENST00000409920.1_Missense_Mutation_p.R130Q	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	150					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						ATGTTCCAGCGAGTGCTGGTG	0.473																																						uc002sfr.3		NaN																	0					0						c.(454-456)CGA>CAA		annexin IV		G	GLN/ARG	0,4406		0,0,2203	137.0	127.0	131.0		455	5.7	1.0	2	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANXA4	NM_001153.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	152/322	70037783	1,13005	2203	4300	6503	SO:0001583	missense	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70037783G>A	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.455G>A	2.37:g.70037783G>A	ENSP00000377833:p.Arg152Gln					ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Missense_Mutation_p.R130Q|ANXA4_uc010yqo.1_Missense_Mutation_p.R68Q	p.R152Q	NM_001153	NP_001144	P09525	ANXA4_HUMAN			7	682	+			150			Annexin 2.		B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	c.455G>A	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	G	37	5.987140	0.97173	0.0	1.16E-4	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.03524	3.9;3.9;3.9	5.72	5.72	0.89469	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	M	0.64630	1.985	0.58432	D	0.999998	D;D;D	0.89917	0.986;1.0;1.0	P;D;D	0.85130	0.788;0.995;0.997	T	0.00071	-1.2130	9	.	.	.	.	17.38	0.87402	0.0:0.0:1.0:0.0	.	150;130;152	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	Q	130;152;68	ENSP00000386756:R130Q;ENSP00000377833:R152Q;ENSP00000441931:R68Q	.	R	+	2	0	ANXA4	69891287	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	8.278000	0.89899	2.711000	0.92665	0.655000	0.94253	CGA		0.473	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2		NM_001153		7	56	0	0	0	0.008291	0	7	56		
CLEC4F	165530	broad.mit.edu	37	2	71043444	71043444	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:71043444T>A	ENST00000272367.2	-	4	1145	c.1069A>T	c.(1069-1071)Act>Tct	p.T357S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.T357S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	357					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGAATCTGAGTATCTGTCTGG	0.408																																					Colon(107;10 2157 6841 26035)	uc002shf.2		NaN																	0				ovary(5)	5						c.(1069-1071)ACT>TCT		C-type lectin, superfamily member 13							91.0	87.0	88.0					2																	71043444		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043444T>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1069A>T	2.37:g.71043444T>A	ENSP00000272367:p.Thr357Ser					CLEC4F_uc010yqv.1_Missense_Mutation_p.T357S	p.T357S	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			4	1146	-			357			Extracellular (Potential).		A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.1069A>T	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.581817	0.28180	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.78481	-1.18;-1.18	3.99	0.0497	0.14290	.	0.546522	0.15368	N	0.266024	T	0.54743	0.1877	N	0.14661	0.345	0.09310	N	1	B;B	0.19817	0.039;0.039	B;B	0.16722	0.016;0.016	T	0.40021	-0.9585	10	0.41790	T	0.15	.	3.2828	0.06921	0.1826:0.5066:0.0:0.3108	.	357;357	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	S	357	ENSP00000272367:T357S;ENSP00000390581:T357S	ENSP00000272367:T357S	T	-	1	0	CLEC4F	70896952	0.025000	0.19082	0.010000	0.14722	0.303000	0.27691	-0.030000	0.12308	-0.003000	0.14444	-0.375000	0.07067	ACT		0.408	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1		NM_173535		7	72	0	0	0	0.001984	0	7	72		
CNNM4	26504	broad.mit.edu	37	2	97475114	97475114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:97475114C>T	ENST00000377075.2	+	7	2286	c.2188C>T	c.(2188-2190)Cag>Tag	p.Q730*	CNNM4_ENST00000540067.1_Missense_Mutation_p.S246L|RP11-353K11.1_ENST00000608609.1_lincRNA	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	730					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.Q730*(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GAACAGCCCTCAGTTTCCCAT	0.577																																						uc002swx.2		NaN																	1	Substitution - Nonsense(1)	p.Q730*(1)	breast(1)	breast(2)|ovary(1)	3						c.(2188-2190)CAG>TAG		cyclin M4							95.0	80.0	85.0					2																	97475114		2203	4300	6503	SO:0001587	stop_gained	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97475114C>T	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.2188C>T	2.37:g.97475114C>T	ENSP00000366275:p.Gln730*					CNNM4_uc010yuy.1_Missense_Mutation_p.S246L	p.Q730*	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN			7	2286	+			730					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Nonsense_Mutation	SNP	ENST00000377075.2	37	c.2188C>T	CCDS2024.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.997640|6.997640	0.97990|0.97990	.|.	.|.	ENSG00000158158|ENSG00000158158	ENST00000377075|ENST00000540067	.|.	.|.	.|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.45856	.|0.1363	.|.	.|.	.|.	0.41904|0.41904	D|D	0.990439|0.990439	.|P	.|0.34724	.|0.465	.|B	.|0.31101	.|0.124	.|T	.|0.39099	.|-0.9630	.|7	0.30854|0.23302	T|T	0.27|0.38	-17.6723|-17.6723	16.4914|16.4914	0.84202|0.84202	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|246	.|B7Z1U0	.|.	X|L	730|246	.|.	ENSP00000366275:Q730X|ENSP00000444806:S246L	Q|S	+|+	1|2	0|0	CNNM4|CNNM4	96838841|96838841	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.962000|0.962000	0.63368|0.63368	7.062000|7.062000	0.76706|0.76706	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.577	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1		NM_020184		5	40	0	0	0	0.001168	0	5	40		
TBC1D8	11138	broad.mit.edu	37	2	101655103	101655103	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:101655103C>T	ENST00000376840.4	-	7	1049	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	TBC1D8_ENST00000409318.1_Silent_p.E365E			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	350	GRAM 2.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCTCCATCTTCTCGATGCTCA	0.557																																						uc010fiv.2		NaN																	0				ovary(3)	3						c.(1048-1050)GAG>GAA		TBC1 domain family, member 8							101.0	108.0	106.0					2																	101655103		2150	4234	6384	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101655103C>T	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1050G>A	2.37:g.101655103C>T						TBC1D8_uc010yvw.1_Silent_p.E365E|TBC1D8_uc002tau.3_Silent_p.E107E	p.E350E	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			7	1181	-			350			GRAM 2.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.1050G>A	CCDS46375.1																																																																																				0.557	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1		NM_007063		11	100	0	0	0	0.003163	0	11	100		
IL36B	27177	broad.mit.edu	37	2	113783751	113783751	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:113783751T>C	ENST00000259213.4	-	5	427	c.320A>G	c.(319-321)cAc>cGc	p.H107R		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	107					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						tatgcatgtgtgaattccaac	0.458																																						uc002tiq.1		NaN																	0				ovary(1)	1						c.(319-321)CAC>CGC		interleukin 1 family, member 8 isoform 1							193.0	165.0	175.0					2																	113783751		2203	4300	6503	SO:0001583	missense	27177				immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113783751T>C	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"""Interleukins and interleukin receptors"""	15564	protein-coding gene	gene with protein product		605508	"""interleukin 1 family, member 8 (eta)"""	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.320A>G	2.37:g.113783751T>C	ENSP00000259213:p.His107Arg						p.H107R	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN			5	424	-			107					Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	ENST00000259213.4	37	c.320A>G	CCDS2109.1	.	.	.	.	.	.	.	.	.	.	t	10.40	1.339068	0.24253	.	.	ENSG00000136696	ENST00000259213	T	0.14640	2.49	2.41	2.41	0.29592	.	3.120590	0.02289	U	0.070096	T	0.22205	0.0535	N	0.14661	0.345	0.24387	N	0.994767	D	0.69078	0.997	D	0.80764	0.994	T	0.36504	-0.9745	10	0.87932	D	0	.	6.7239	0.23345	0.0:0.0:0.0:1.0	.	107	Q9NZH7	IL36B_HUMAN	R	107	ENSP00000259213:H107R	ENSP00000259213:H107R	H	-	2	0	IL36B	113500222	0.035000	0.19736	0.131000	0.22000	0.116000	0.19942	1.796000	0.38794	1.376000	0.46267	0.454000	0.30748	CAC		0.458	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1		NM_014438		9	67	0	0	0	0.013537	0	9	67		
AMER3	205147	broad.mit.edu	37	2	131520580	131520580	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:131520580G>C	ENST00000423981.1	+	2	1045	c.935G>C	c.(934-936)aGt>aCt	p.S312T	AMER3_ENST00000321420.4_Missense_Mutation_p.S312T	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	312					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TTCTGGGACAGTGTGAATCGC	0.647																																						uc002trw.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(934-936)AGT>ACT		hypothetical protein LOC205147							35.0	40.0	38.0					2																	131520580		2203	4299	6502	SO:0001583	missense	205147							g.chr2:131520580G>C	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.935G>C	2.37:g.131520580G>C	ENSP00000392700:p.Ser312Thr					FAM123C_uc010fmv.2_Missense_Mutation_p.S312T|FAM123C_uc010fms.1_Missense_Mutation_p.S312T|FAM123C_uc010fmt.1_Missense_Mutation_p.S312T|FAM123C_uc010fmu.1_Missense_Mutation_p.S312T	p.S312T	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1125	+	Colorectal(110;0.1)		312					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.935G>C	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	6.517	0.463692	0.12402	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.18016	2.24;2.24	5.21	3.03	0.35002	.	0.433499	0.21374	N	0.075598	T	0.12050	0.0293	L	0.53249	1.67	0.24761	N	0.992926	B	0.21606	0.058	B	0.24848	0.056	T	0.36432	-0.9748	10	0.05959	T	0.93	.	3.8351	0.08891	0.2435:0.197:0.5594:0.0	.	312	Q8N944	F123C_HUMAN	T	312	ENSP00000314914:S312T;ENSP00000392700:S312T	ENSP00000314914:S312T	S	+	2	0	FAM123C	131237050	0.227000	0.23707	0.991000	0.47740	0.226000	0.24999	0.890000	0.28295	1.341000	0.45600	0.561000	0.74099	AGT		0.647	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3		NM_152698		6	35	0	0	0	0.00308	0	6	35		
MCM6	4175	broad.mit.edu	37	2	136610439	136610439	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:136610439C>T	ENST00000264156.2	-	12	1733	c.1673G>A	c.(1672-1674)aGa>aAa	p.R558K	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	558					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		TTCCTCAATTCTTGAATGCAA	0.368																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2		NaN																	0					0						c.(1672-1674)AGA>AAA		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						104.0	95.0	98.0					2																	136610439		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136610439C>T		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1673G>A	2.37:g.136610439C>T	ENSP00000264156:p.Arg558Lys						p.R558K	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	12	1749	-			558					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.1673G>A	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522614	0.64747	.	.	ENSG00000076003	ENST00000264156	T	0.05855	3.38	5.77	5.77	0.91146	.	0.042189	0.85682	D	0.000000	T	0.05456	0.0144	N	0.20401	0.57	0.80722	D	1	B	0.17038	0.02	B	0.21360	0.034	T	0.22556	-1.0213	10	0.05525	T	0.97	-9.5491	19.978	0.97315	0.0:1.0:0.0:0.0	.	558	Q14566	MCM6_HUMAN	K	558	ENSP00000264156:R558K	ENSP00000264156:R558K	R	-	2	0	MCM6	136326909	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.440000	0.80464	2.733000	0.93635	0.557000	0.71058	AGA		0.368	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1		NM_005915		7	46	0	0	0	0.001984	0	7	46		
MARCH7	64844	broad.mit.edu	37	2	160604796	160604796	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:160604796C>G	ENST00000259050.4	+	5	1117	c.995C>G	c.(994-996)tCa>tGa	p.S332*	MARCH7_ENST00000409591.1_Nonsense_Mutation_p.S294*|MARCH7_ENST00000539065.1_Nonsense_Mutation_p.S276*|MARCH7_ENST00000409175.1_Nonsense_Mutation_p.S332*	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	332	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AATGTACCATCAGCTTCTGAA	0.413																																						uc002uax.2		NaN																	0					0						c.(994-996)TCA>TGA		axotrophin							54.0	57.0	56.0					2																	160604796		2202	4300	6502	SO:0001587	stop_gained	64844						ligase activity|zinc ion binding	g.chr2:160604796C>G	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.995C>G	2.37:g.160604796C>G	ENSP00000259050:p.Ser332*					MARCH7_uc010foq.2_Nonsense_Mutation_p.S332*|MARCH7_uc010zcn.1_Nonsense_Mutation_p.S276*|MARCH7_uc010for.2_Nonsense_Mutation_p.S294*|MARCH7_uc002uay.2_RNA	p.S332*	NM_022826	NP_073737	Q9H992	MARH7_HUMAN			5	1117	+			332			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Nonsense_Mutation	SNP	ENST00000259050.4	37	c.995C>G	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240468	0.58995	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591	.	.	.	5.79	5.79	0.91817	.	0.598876	0.17105	N	0.186829	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-1.6032	20.024	0.97514	0.0:1.0:0.0:0.0	.	.	.	.	X	332;276;332;294	.	ENSP00000259050:S332X	S	+	2	0	MARCH7	160313042	0.013000	0.17824	0.980000	0.43619	0.300000	0.27592	2.272000	0.43373	2.718000	0.92993	0.655000	0.94253	TCA		0.413	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3		NM_022826		3	39	0	0	0	0.009096	0	3	39		
LY75	4065	broad.mit.edu	37	2	160698844	160698844	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:160698844G>C	ENST00000263636.4	-	24	3219	c.3192C>G	c.(3190-3192)ctC>ctG	p.L1064L	LY75-CD302_ENST00000504764.1_Silent_p.L1064L|LY75_ENST00000554112.1_Silent_p.L1064L|LY75-CD302_ENST00000505052.1_Silent_p.L1064L|LY75_ENST00000553424.1_Silent_p.L1064L	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1064	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTGGAGGTTGAGTATTAGGG	0.403																																						uc002ubc.3		NaN																	0					0						c.(3190-3192)CTC>CTG		lymphocyte antigen 75 precursor							95.0	93.0	94.0					2																	160698844		2203	4300	6503	SO:0001819	synonymous_variant	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160698844G>C	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3192C>G	2.37:g.160698844G>C						LY75_uc002ubb.3_Silent_p.L1064L|LY75_uc010fos.2_Silent_p.L1064L	p.L1064L	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	24	3261	-			1064			Extracellular (Potential).|C-type lectin 6.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	c.3192C>G	CCDS2211.1																																																																																				0.403	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1				7	47	0	0	0	0.004482	0	7	47		
SLC4A10	57282	broad.mit.edu	37	2	162813607	162813607	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:162813607C>T	ENST00000446997.1	+	20	2743	c.2650C>T	c.(2650-2652)Cat>Tat	p.H884Y	SLC4A10_ENST00000375514.5_Missense_Mutation_p.H865Y|SLC4A10_ENST00000421911.1_Missense_Mutation_p.H884Y|SLC4A10_ENST00000272716.5_Missense_Mutation_p.H854Y|SLC4A10_ENST00000415876.2_Missense_Mutation_p.H854Y	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	884					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CTCCATCACTCATGTCAATAG	0.493																																						uc002ubx.3		NaN																	0				ovary(2)|lung(2)|pancreas(1)	5						c.(2650-2652)CAT>TAT		solute carrier family 4, sodium bicarbonate							43.0	47.0	46.0					2																	162813607		2184	4298	6482	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162813607C>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2650C>T	2.37:g.162813607C>T	ENSP00000393066:p.His884Tyr					SLC4A10_uc002uby.3_Missense_Mutation_p.H854Y|SLC4A10_uc010zcs.1_Missense_Mutation_p.H865Y	p.H884Y	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			20	2834	+			884			Extracellular (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.2650C>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026119	0.93518	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.58	5.58	0.84498	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94941	0.8364	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.95876	0.8895	10	0.87932	D	0	.	19.5662	0.95393	0.0:1.0:0.0:0.0	.	865;854;884	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	Y	865;854;854;853;884;884;883	ENSP00000364664:H865Y;ENSP00000395797:H854Y;ENSP00000272716:H854Y;ENSP00000393066:H884Y;ENSP00000404486:H884Y	ENSP00000272716:H854Y	H	+	1	0	SLC4A10	162521853	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.608000	0.88229	0.655000	0.94253	CAT		0.493	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1		NM_022058		3	20	0	0	0	0.000602	0	3	20		
METTL5	29081	broad.mit.edu	37	2	170681089	170681089	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:170681089T>C	ENST00000260953.5	-	1	335	c.19A>G	c.(19-21)Aag>Gag	p.K7E	UBR3_ENST00000272793.5_5'Flank|UBR3_ENST00000418381.1_5'Flank|METTL5_ENST00000409340.1_Missense_Mutation_p.K7E|METTL5_ENST00000409965.1_Missense_Mutation_p.K7E|METTL5_ENST00000392640.2_Missense_Mutation_p.K7E|METTL5_ENST00000410097.1_Missense_Mutation_p.K7E|METTL5_ENST00000308099.3_Missense_Mutation_p.K7E|METTL5_ENST00000409837.1_Missense_Mutation_p.K7E	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5	7							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TCTAGTTCCTTAAGCCTTACT	0.468											OREG0015052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ufn.2		NaN																	0				central_nervous_system(1)	1						c.(19-21)AAG>GAG		methyltransferase like 5							195.0	192.0	193.0					2																	170681089		2203	4300	6503	SO:0001583	missense	29081						methyltransferase activity|nucleic acid binding	g.chr2:170681089T>C	AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.19A>G	2.37:g.170681089T>C	ENSP00000260953:p.Lys7Glu		OREG0015052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1887	UBR3_uc010zdi.1_5'Flank|METTL5_uc002ufo.2_Missense_Mutation_p.K7E|METTL5_uc002ufp.2_Missense_Mutation_p.K7E|METTL5_uc002ufq.1_Missense_Mutation_p.K7E	p.K7E	NM_014168	NP_054887	Q9NRN9	METL5_HUMAN			1	265	-			7					D3DPC9|Q9NVX1	Missense_Mutation	SNP	ENST00000260953.5	37	c.19A>G	CCDS33320.1	.	.	.	.	.	.	.	.	.	.	T	36	5.613517	0.96637	.	.	ENSG00000138382	ENST00000409837;ENST00000540464;ENST00000409340;ENST00000260953;ENST00000409965;ENST00000392640;ENST00000308099;ENST00000410097;ENST00000538491	T;T;T;T;T	0.58210	0.59;0.35;0.35;0.35;0.36	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79028	0.4377	H	0.94264	3.515	0.80722	D	1	D;D	0.69078	0.997;0.991	P;D	0.63793	0.905;0.918	D	0.85520	0.1203	10	0.87932	D	0	.	15.8939	0.79322	0.0:0.0:0.0:1.0	.	7;7	B8ZZC8;Q9NRN9	.;METL5_HUMAN	E	7	ENSP00000387106:K7E;ENSP00000260953:K7E;ENSP00000386582:K7E;ENSP00000376415:K7E;ENSP00000307903:K7E	ENSP00000260953:K7E	K	-	1	0	METTL5	170389335	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.835000	0.86780	2.137000	0.66172	0.528000	0.53228	AAG		0.468	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333957.1		NM_014168		12	98	0	0	0	0.00245	0	12	98		
TTN	7273	broad.mit.edu	37	2	179440352	179440352	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:179440352A>C	ENST00000591111.1	-	276	65808	c.65584T>G	c.(65584-65586)Tgt>Ggt	p.C21862G	RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C20935G|TTN_ENST00000589042.1_Missense_Mutation_p.C23503G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C14630G|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C14563G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.C14438G			Q8WZ42	TITIN_HUMAN	titin	21862	Fibronectin type-III 58. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATATTCACACCCTTCAGAC	0.438																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(62803-62805)TGT>GGT		titin isoform N2-A							127.0	123.0	124.0					2																	179440352		1936	4134	6070	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440352A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65584T>G	2.37:g.179440352A>C	ENSP00000465570:p.Cys21862Gly					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C14630G|TTN_uc010zfi.1_Missense_Mutation_p.C14563G|TTN_uc010zfj.1_Missense_Mutation_p.C14438G	p.C20935G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	63027	-			21862					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.62803T>G		.	.	.	.	.	.	.	.	.	.	A	3.317	-0.139461	0.06669	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.69	1.86	0.25419	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37237	0.0996	N	0.20445	0.575	0.40603	D	0.981605	B;B;B;B	0.24043	0.096;0.096;0.096;0.059	B;B;B;B	0.32289	0.143;0.143;0.143;0.143	T	0.18618	-1.0331	9	0.87932	D	0	.	6.958	0.24582	0.7045:0.0:0.064:0.2315	.	14438;14563;14630;21862	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	20935;14438;14630;14563;14436	ENSP00000343764:C20935G;ENSP00000434586:C14438G;ENSP00000340554:C14630G;ENSP00000352154:C14563G	ENSP00000340554:C14630G	C	-	1	0	TTN	179148598	0.994000	0.37717	0.078000	0.20375	0.512000	0.34134	3.303000	0.51858	0.072000	0.16694	-0.336000	0.08194	TGT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		9	72	0	0	0	0.005443	0	9	72		
TTN	7273	broad.mit.edu	37	2	179611576	179611576	+	Intron	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:179611576G>C	ENST00000591111.1	-	46	10585				TTN_ENST00000360870.5_Missense_Mutation_p.S5184C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			TTCAATAAAAGATGGAGGCAT	0.413																																						uc002unb.2		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.(15550-15552)TCT>TGT		titin isoform novex-3							99.0	97.0	98.0					2																	179611576		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611576G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4928C>G	2.37:g.179611576G>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.S5184C	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15775	-			8703					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15551C>G		.	.	.	.	.	.	.	.	.	.	G	21.6	4.173525	0.78452	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.68479	-0.33	5.95	5.95	0.96441	.	.	.	.	.	T	0.81413	0.4817	M	0.72353	2.195	0.80722	D	1	P	0.42735	0.788	P	0.58820	0.846	T	0.80079	-0.1532	9	0.59425	D	0.04	.	20.3854	0.98941	0.0:0.0:1.0:0.0	.	5184	Q8WZ42-6	.	C	5184;465	ENSP00000354117:S5184C	ENSP00000304714:S465C	S	-	2	0	TTN	179319821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.727000	0.98787	2.825000	0.97269	0.655000	0.94253	TCT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		4	79	0	0	0	0.001168	0	4	79		
PLCL1	5334	broad.mit.edu	37	2	198948543	198948543	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:198948543C>T	ENST00000428675.1	+	2	700	c.302C>T	c.(301-303)tCg>tTg	p.S101L	PLCL1_ENST00000437704.2_Missense_Mutation_p.S3L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	101	Interaction with PPP1C.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGCATGCCATCGGAAAAGAAA	0.383																																						uc010fsp.2		NaN																	0				ovary(1)|skin(1)	2						c.(301-303)TCG>TTG		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						75.0	73.0	74.0					2																	198948543		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198948543C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.302C>T	2.37:g.198948543C>T	ENSP00000402861:p.Ser101Leu					PLCL1_uc002uuv.3_Missense_Mutation_p.S22L	p.S101L	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	593	+			101			Interaction with PPP1C.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.302C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936958	0.92458	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.17213	2.29;2.29	5.67	5.67	0.87782	.	0.000000	0.56097	D	0.000022	T	0.30039	0.0752	L	0.52573	1.65	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.52554	0.702;0.702	T	0.00162	-1.1971	9	.	.	.	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	101;27	Q15111;B4DYZ4	PLCL1_HUMAN;.	L	101;3	ENSP00000402861:S101L;ENSP00000414138:S3L	.	S	+	2	0	PLCL1	198656788	1.000000	0.71417	0.164000	0.22755	0.934000	0.57294	7.766000	0.85320	2.836000	0.97738	0.655000	0.94253	TCG		0.383	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1		NM_006226		6	47	0	0	0	0.001984	0	6	47		
AOX1	316	broad.mit.edu	37	2	201505863	201505863	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:201505863G>C	ENST00000374700.2	+	24	2852	c.2611G>C	c.(2611-2613)Gag>Cag	p.E871Q	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	871					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCTGGACATGGAGCATTACAG	0.443																																						uc002uvx.2		NaN																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(2611-2613)GAG>CAG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						106.0	107.0	107.0					2																	201505863		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201505863G>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2611G>C	2.37:g.201505863G>C	ENSP00000363832:p.Glu871Gln					AOX1_uc010zhf.1_Missense_Mutation_p.E427Q|AOX1_uc010fsu.2_Missense_Mutation_p.E237Q	p.E871Q	NM_001159	NP_001150	Q06278	ADO_HUMAN			24	2712	+			871					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.2611G>C	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	8.376	0.836401	0.16891	.	.	ENSG00000138356	ENST00000374700	T	0.39592	1.07	5.13	4.23	0.50019	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.606688	0.18278	N	0.146120	T	0.23410	0.0566	N	0.11313	0.125	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.13415	-1.0510	10	0.30854	T	0.27	-33.1702	9.8412	0.40999	0.0819:0.1438:0.7743:0.0	.	871	Q06278	ADO_HUMAN	Q	871	ENSP00000363832:E871Q	ENSP00000363832:E871Q	E	+	1	0	AOX1	201214108	0.000000	0.05858	0.994000	0.49952	0.755000	0.42902	0.027000	0.13621	1.467000	0.48044	0.637000	0.83480	GAG		0.443	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1		NM_001159		3	45	0	0	0	0.009096	0	3	45		
CASP10	843	broad.mit.edu	37	2	202073797	202073797	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:202073797C>T	ENST00000272879.5	+	9	1111	c.927C>T	c.(925-927)atC>atT	p.I309I	CASP10_ENST00000346817.5_Silent_p.I266I|CASP10_ENST00000286186.6_Silent_p.I309I|CASP10_ENST00000313728.7_Silent_p.I242I|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000448480.1_Silent_p.I266I|CASP10_ENST00000492363.1_3'UTR	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	309					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						AAACAGAGATCCTGAGTCATG	0.378																																						uc002uxl.1		NaN																	0				skin(3)|ovary(1)|pancreas(1)|breast(1)	6						c.(925-927)ATC>ATT		caspase 10 isoform b preproprotein							53.0	54.0	53.0					2																	202073797		2202	4300	6502	SO:0001819	synonymous_variant	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202073797C>T	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.927C>T	2.37:g.202073797C>T						CASP10_uc002uxj.1_Silent_p.I309I|CASP10_uc002uxk.1_Silent_p.I266I|CASP10_uc010fta.1_Silent_p.I242I|CASP10_uc002uxm.1_Silent_p.I266I|CASP10_uc010ftb.1_RNA	p.I309I	NM_032974	NP_116756	Q92851	CASPA_HUMAN			9	1345	+			309					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Silent	SNP	ENST00000272879.5	37	c.927C>T	CCDS2338.1																																																																																				0.378	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1		NM_032977		6	42	0	0	0	0.001168	0	6	42		
CDK5R2	8941	broad.mit.edu	37	2	219825385	219825385	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:219825385C>G	ENST00000302625.4	+	1	1009	c.843C>G	c.(841-843)ctC>ctG	p.L281L	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	281					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTACCCACTCAAGCCCTTCC	0.677																																						uc002vjf.2		NaN																	0				ovary(1)	1						c.(841-843)CTC>CTG		cyclin-dependent kinase 5, regulatory subunit 2							113.0	112.0	112.0					2																	219825385		2203	4300	6503	SO:0001819	synonymous_variant	8941				regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity	g.chr2:219825385C>G	U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"""neuronal CDK5 activator isoform"""	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.843C>G	2.37:g.219825385C>G							p.L281L	NM_003936	NP_003927	Q13319	CD5R2_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	988	+		Renal(207;0.0474)	281					Q4ZFW6	Silent	SNP	ENST00000302625.4	37	c.843C>G	CCDS2427.1																																																																																				0.677	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256728.1		NM_003936		6	120	0	0	0	0.001984	0	6	120		
DNER	92737	broad.mit.edu	37	2	230450662	230450662	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:230450662T>C	ENST00000341772.4	-	4	893	c.759A>G	c.(757-759)atA>atG	p.I253M	DNER_ENST00000482831.1_5'UTR	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	253					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTCGTCCATCTATGAGGGAGC	0.517																																						uc002vpv.2		NaN																	0				lung(5)|ovary(2)|skin(1)	8						c.(757-759)ATA>ATG		delta-notch-like EGF repeat-containing							100.0	96.0	97.0					2																	230450662		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230450662T>C	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.759A>G	2.37:g.230450662T>C	ENSP00000345229:p.Ile253Met					DNER_uc010zly.1_Translation_Start_Site	p.I253M	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	4	906	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	253			Extracellular (Potential).		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.759A>G	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435412	0.62955	.	.	ENSG00000187957	ENST00000341772	D	0.85484	-1.99	5.67	-11.3	0.00108	.	0.219434	0.45606	D	0.000358	T	0.77738	0.4175	N	0.24115	0.695	0.27019	N	0.964504	D	0.64830	0.994	P	0.59221	0.854	T	0.81123	-0.1076	10	0.52906	T	0.07	.	10.7056	0.45952	0.3515:0.0:0.4933:0.1552	.	253	Q8NFT8	DNER_HUMAN	M	253	ENSP00000345229:I253M	ENSP00000345229:I253M	I	-	3	3	DNER	230158906	0.038000	0.19896	0.332000	0.25469	0.985000	0.73830	-1.423000	0.02450	-2.383000	0.00592	0.533000	0.62120	ATA		0.517	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1		NM_139072		8	58	0	0	0	0.004482	0	8	58		
HTR2B	3357	broad.mit.edu	37	2	231988456	231988456	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:231988456G>C	ENST00000258400.3	-	2	535	c.23C>G	c.(22-24)tCt>tGt	p.S8C	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	8					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	TTGAAGTTCAGACACTCTGTA	0.423																																					Ovarian(155;1331 1891 12853 14038 34991)	uc002vro.2		NaN																	0					0						c.(22-24)TCT>TGT		5-hydroxytryptamine (serotonin) receptor 2B	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						116.0	112.0	114.0					2																	231988456		2203	4300	6503	SO:0001583	missense	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231988456G>C		CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.23C>G	2.37:g.231988456G>C	ENSP00000258400:p.Ser8Cys					PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.S8C	p.S8C	NM_000867	NP_000858	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	2	528	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	8			Extracellular (By similarity).		B2R9D5|Q53TI1|Q62221|Q6P523	Missense_Mutation	SNP	ENST00000258400.3	37	c.23C>G	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578171	0.28180	.	.	ENSG00000135914	ENST00000258400	T	0.61392	0.11	5.52	1.23	0.21249	.	1.098720	0.06757	N	0.781071	T	0.46014	0.1371	L	0.43152	1.355	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.32903	-0.9889	10	0.35671	T	0.21	.	4.1708	0.10329	0.1502:0.1233:0.5994:0.1271	.	8	P41595	5HT2B_HUMAN	C	8	ENSP00000258400:S8C	ENSP00000258400:S8C	S	-	2	0	HTR2B	231696700	0.990000	0.36364	0.972000	0.41901	0.793000	0.44817	1.671000	0.37513	0.614000	0.30107	0.585000	0.79938	TCT		0.423	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2		NM_000867		15	111	0	0	0	0.007413	0	15	111		
ATG16L1	55054	broad.mit.edu	37	2	234191385	234191385	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr2:234191385G>A	ENST00000392017.4	+	12	1446	c.1189G>A	c.(1189-1191)Gat>Aat	p.D397N	ATG16L1_ENST00000347464.5_Missense_Mutation_p.D234N|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000392020.4_Missense_Mutation_p.D378N|ATG16L1_ENST00000392018.1_Missense_Mutation_p.D414N|ATG16L1_ENST00000373525.5_Missense_Mutation_p.D218N	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)	397					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)		GACTGTGGATGATTATCGATT	0.413																																						uc002vty.2		NaN																	0					0						c.(1189-1191)GAT>AAT		APG16 autophagy 16-like isoform 1							138.0	130.0	133.0					2																	234191385		2203	4300	6503	SO:0001583	missense	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234191385G>A	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1189G>A	2.37:g.234191385G>A	ENSP00000375872:p.Asp397Asn					ATG16L1_uc002vtx.1_Missense_Mutation_p.D234N|ATG16L1_uc002vua.2_Missense_Mutation_p.D378N|ATG16L1_uc002vub.2_Missense_Mutation_p.D255N|ATG16L1_uc002vtz.2_Missense_Mutation_p.D218N|ATG16L1_uc002vud.3_Missense_Mutation_p.D313N	p.D397N	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)	12	1446	+		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)	397			WD 2.		A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	c.1189G>A	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	G	34	5.336094	0.95758	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018;ENST00000334050	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	N	0.11023	0.085	0.80722	D	1	D;P;P;P;P	0.55172	0.97;0.91;0.855;0.855;0.955	P;P;P;B;P	0.58873	0.847;0.628;0.637;0.424;0.703	T	0.08391	-1.0724	10	0.54805	T	0.06	.	18.2859	0.90114	0.0:0.0:1.0:0.0	.	351;378;218;397;234	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	N	397;234;218;378;414;56	ENSP00000375872:D397N;ENSP00000318259:D234N;ENSP00000362625:D218N;ENSP00000375875:D378N;ENSP00000375873:D414N	ENSP00000334016:D56N	D	+	1	0	ATG16L1	233856124	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.423000	0.90264	2.757000	0.94681	0.655000	0.94253	GAT		0.413	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2		NM_017974		8	75	0	0	0	0.008291	0	8	75		
PLCB1	23236	broad.mit.edu	37	20	8696958	8696958	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:8696958G>C	ENST00000338037.6	+	13	1325	c.1298G>C	c.(1297-1299)gGg>gCg	p.G433A	PLCB1_ENST00000378637.2_Missense_Mutation_p.G433A|PLCB1_ENST00000378641.3_Missense_Mutation_p.G433A|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	433	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGATCTTTGGGGATGCCCTT	0.468																																						uc002wnb.2		NaN																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(1297-1299)GGG>GCG		phosphoinositide-specific phospholipase C beta 1							114.0	105.0	108.0					20																	8696958		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8696958G>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1298G>C	20.37:g.8696958G>C	ENSP00000338185:p.Gly433Ala					PLCB1_uc010zrb.1_Missense_Mutation_p.G332A|PLCB1_uc002wna.2_Missense_Mutation_p.G433A|PLCB1_uc002wnc.1_Missense_Mutation_p.G332A|PLCB1_uc002wnd.1_Missense_Mutation_p.G10A	p.G433A	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			13	1301	+			433			PI-PLC X-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.1298G>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324785	0.95708	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.63255	-0.03;-0.03;-0.03	6.02	6.02	0.97574	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87437	0.2392	10	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	433;433	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	A	433;433;433;353;353	ENSP00000367908:G433A;ENSP00000338185:G433A;ENSP00000367904:G433A	ENSP00000338185:G433A	G	+	2	0	PLCB1	8644958	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	GGG		0.468	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3				8	40	0	0	0	0.004482	0	8	40		
JAG1	182	broad.mit.edu	37	20	10620148	10620148	+	Nonstop_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:10620148A>G	ENST00000254958.5	-	26	4170	c.3655T>C	c.(3655-3657)Tag>Cag	p.*1219Q	JAG1_ENST00000423891.2_Nonstop_Mutation_p.*1060Q	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	0					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCGGTCTGCTATACGATGTAC	0.522									Alagille Syndrome																													uc002wnw.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(3655-3657)TAG>CAG		jagged 1 precursor							156.0	141.0	146.0					20																	10620148		2203	4300	6503	SO:0001578	stop_lost	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620148A>G	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3655T>C	20.37:g.10620148A>G	ENSP00000254958:p.*1219Gluext*10						p.*1219Q	NM_000214	NP_000205	P78504	JAG1_HUMAN			26	4171	-			1219					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Nonstop_Mutation	SNP	ENST00000254958.5	37	c.3655T>C	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.086020	0.36855	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.383	0.83481	1.0:0.0:0.0:0.0	.	.	.	.	Q	1219;1060	.	.	X	-	1	0	JAG1	10568148	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	8.880000	0.92407	2.326000	0.78906	0.533000	0.62120	TAG		0.522	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_000214		18	178	0	0	0	0.008871	0	18	178		
CRNKL1	51340	broad.mit.edu	37	20	20022983	20022983	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:20022983C>T	ENST00000377340.2	-	9	1664	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	CRNKL1_ENST00000377327.4_Missense_Mutation_p.E533K|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E384K	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	545	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GCCTCCAATTCTTCATAGAGT	0.413																																						uc002wrs.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1633-1635)GAA>AAA		crooked neck-like 1 protein							122.0	115.0	117.0					20																	20022983		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20022983C>T	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1633G>A	20.37:g.20022983C>T	ENSP00000366557:p.Glu545Lys						p.E545K	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			9	1665	-			545					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.1633G>A	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511687	0.96402	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.47869	0.83;0.83;0.83	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81143	0.4761	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86572	0.1848	10	0.87932	D	0	-26.7965	20.3312	0.98718	0.0:1.0:0.0:0.0	.	545	Q9BZJ0	CRNL1_HUMAN	K	533;545;384	ENSP00000366544:E533K;ENSP00000366557:E545K;ENSP00000440733:E384K	ENSP00000366544:E533K	E	-	1	0	CRNKL1	19970983	1.000000	0.71417	0.934000	0.37439	0.916000	0.54674	7.811000	0.86092	2.797000	0.96272	0.655000	0.94253	GAA		0.413	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1				9	92	0	0	0	0.008291	0	9	92		
MYH7B	57644	broad.mit.edu	37	20	33577919	33577919	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:33577919C>G	ENST00000262873.7	+	19	2088	c.1996C>G	c.(1996-1998)Ctc>Gtc	p.L666V	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	624	Actin-binding. {ECO:0000250}.|Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCTGGCGACTCTCTATGAGAA	0.552																																						uc002xbi.1		NaN																	0				ovary(1)|breast(1)	2						c.(1996-1998)CTC>GTC		myosin, heavy polypeptide 7B, cardiac muscle,							87.0	96.0	93.0					20																	33577919		2107	4250	6357	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33577919C>G	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1996C>G	20.37:g.33577919C>G	ENSP00000262873:p.Leu666Val					MIR499_hsa-mir-499|MI0003183_5'Flank	p.L666V	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		19	2088	+			624			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.1996C>G	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813200	0.50527	.	.	ENSG00000078814	ENST00000262873	T	0.76186	-1.0	4.36	4.36	0.52297	Myosin head, motor domain (2);	0.000000	0.34178	N	0.004192	D	0.84745	0.5540	M	0.83774	2.66	0.44073	D	0.996823	D	0.59357	0.985	D	0.85130	0.997	D	0.85446	0.1158	10	0.62326	D	0.03	.	8.5183	0.33259	0.0:0.8279:0.0:0.1721	.	624	A7E2Y1	MYH7B_HUMAN	V	666	ENSP00000262873:L666V	ENSP00000262873:L666V	L	+	1	0	MYH7B	33041580	0.976000	0.34144	0.992000	0.48379	0.553000	0.35397	2.491000	0.45303	2.422000	0.82143	0.561000	0.74099	CTC		0.552	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2		NM_020884		11	134	0	0	0	0.008291	0	11	134		
TTI1	9675	broad.mit.edu	37	20	36641489	36641489	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:36641489T>C	ENST00000373448.2	-	3	968	c.730A>G	c.(730-732)Agc>Ggc	p.S244G	TTI1_ENST00000373447.3_Missense_Mutation_p.S244G|TTI1_ENST00000449821.1_Missense_Mutation_p.S244G|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	244					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ATAATGAAGCTCACTGTCTTG	0.443																																						uc002xhl.2		NaN																	0					0						c.(730-732)AGC>GGC		hypothetical protein LOC9675							172.0	169.0	170.0					20																	36641489		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36641489T>C	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.730A>G	20.37:g.36641489T>C	ENSP00000362547:p.Ser244Gly					KIAA0406_uc002xhm.2_Missense_Mutation_p.S244G	p.S244G	NM_014657	NP_055472	O43156	TTI1_HUMAN			3	939	-		Myeloproliferative disorder(115;0.00874)	244					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.730A>G	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	T	4.322	0.059037	0.08339	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.14640	2.49;2.49;2.49	5.45	-0.612	0.11597	Armadillo-like helical (1);Armadillo-type fold (1);	0.287416	0.43919	N	0.000501	T	0.04588	0.0125	N	0.03209	-0.39	0.27515	N	0.951582	B	0.02656	0.0	B	0.01281	0.0	T	0.38499	-0.9658	10	0.22109	T	0.4	-24.5193	7.4108	0.27016	0.122:0.7322:0.0:0.1458	.	244	O43156	TTI1_HUMAN	G	244	ENSP00000362547:S244G;ENSP00000362546:S244G;ENSP00000407270:S244G	ENSP00000362546:S244G	S	-	1	0	TTI1	36074903	0.137000	0.22531	0.955000	0.39395	0.997000	0.91878	0.155000	0.16362	-0.258000	0.09446	0.528000	0.53228	AGC		0.443	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2		NM_014657		12	150	0	0	0	0.00245	0	12	150		
SPINT4	391253	broad.mit.edu	37	20	44352659	44352659	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:44352659G>C	ENST00000279058.3	+	2	273	c.256G>C	c.(256-258)Gaa>Caa	p.E86Q		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	86	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				GCTTAAAATAGAACGTGAAGT	0.393																																						uc002xpe.1		NaN																	0				ovary(1)|lung(1)	2						c.(256-258)GAA>CAA		serine peptidase inhibitor, Kunitz type 4							81.0	80.0	80.0					20																	44352659		2203	4300	6503	SO:0001583	missense	391253					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44352659G>C	AY372174	CCDS33477.1	20q13.12	2012-08-20	2005-10-18	2005-10-25	ENSG00000149651	ENSG00000149651			16130	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 137"", ""serine peptidase inhibitor, Kunitz type 4"""	C20orf137		21988899	Standard	NM_178455		Approved	dJ601O1.1	uc002xpe.1	Q6UDR6	OTTHUMG00000130153	ENST00000279058.3:c.256G>C	20.37:g.44352659G>C	ENSP00000279058:p.Glu86Gln						p.E86Q	NM_178455	NP_848550	Q6UDR6	SPIT4_HUMAN			2	275	+		Myeloproliferative disorder(115;0.028)	86			BPTI/Kunitz inhibitor.		Q9BQN3	Missense_Mutation	SNP	ENST00000279058.3	37	c.256G>C	CCDS33477.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902254	0.33628	.	.	ENSG00000149651	ENST00000279058	T	0.59906	0.23	3.94	3.94	0.45596	Proteinase inhibitor I2, Kunitz metazoa (6);	0.620096	0.15377	N	0.265527	T	0.48223	0.1488	.	.	.	0.21675	N	0.999592	B	0.31153	0.31	B	0.35607	0.206	T	0.40720	-0.9548	9	0.36615	T	0.2	-12.8028	11.7836	0.52028	0.0:0.0:1.0:0.0	.	86	Q6UDR6	SPIT4_HUMAN	Q	86	ENSP00000279058:E86Q	ENSP00000279058:E86Q	E	+	1	0	SPINT4	43786073	0.998000	0.40836	0.537000	0.28052	0.009000	0.06853	3.976000	0.56867	2.486000	0.83907	0.650000	0.86243	GAA		0.393	SPINT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252463.2		XM_372869		7	122	0	0	0	0.006214	0	7	122		
NCOA3	8202	broad.mit.edu	37	20	46279914	46279914	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:46279914C>T	ENST00000371998.3	+	20	4031	c.3840C>T	c.(3838-3840)ttC>ttT	p.F1280F	NCOA3_ENST00000341724.6_Silent_p.F1206F|NCOA3_ENST00000372004.3_Silent_p.F1276F|NCOA3_ENST00000371997.3_Silent_p.F1271F			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1280	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCCAGGCCTTCAGCCCACCTC	0.567																																						uc002xtk.2		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(3838-3840)TTC>TTT		nuclear receptor coactivator 3 isoform a							111.0	108.0	109.0					20																	46279914		2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279914C>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3840C>T	20.37:g.46279914C>T						NCOA3_uc010ght.1_Silent_p.F1271F|NCOA3_uc002xtl.2_Silent_p.F1276F|NCOA3_uc002xtm.2_Silent_p.F1275F|NCOA3_uc002xtn.2_Silent_p.F1279F|NCOA3_uc010zyc.1_Silent_p.F1075F	p.F1280F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			20	4045	+			1280			Acetyltransferase.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3840C>T	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534		4	61	0	0	0	0.009096	0	4	61		
ARFGEF2	10564	broad.mit.edu	37	20	47605103	47605103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:47605103G>A	ENST00000371917.4	+	18	2437	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	813					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCTGCCAGAAGAGTATCTCTC	0.313																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NaN																	0				breast(3)|upper_aerodigestive_tract(1)	4						c.(2437-2439)GAG>AAG		ADP-ribosylation factor guanine							70.0	72.0	72.0					20																	47605103		2203	4296	6499	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47605103G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2437G>A	20.37:g.47605103G>A	ENSP00000360985:p.Glu813Lys					ARFGEF2_uc010zyf.1_Missense_Mutation_p.E106K	p.E813K	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		18	2589	+			813					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.2437G>A	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	36	5.617027	0.96649	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.59364	0.27	5.74	5.74	0.90152	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.77896	0.4199	M	0.88842	2.985	0.80722	D	1	D	0.59357	0.985	P	0.55965	0.788	T	0.81529	-0.0891	10	0.87932	D	0	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	813	Q9Y6D5	BIG2_HUMAN	K	813	ENSP00000360985:E813K	ENSP00000360985:E813K	E	+	1	0	ARFGEF2	47038510	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.813000	0.99286	2.873000	0.98535	0.563000	0.77884	GAG		0.313	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1		NM_006420		8	153	0	0	0	0.00308	0	8	153		
PTGIS	5740	broad.mit.edu	37	20	48124546	48124546	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:48124546C>G	ENST00000244043.4	-	10	1443	c.1414G>C	c.(1414-1416)Gag>Cag	p.E472Q	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	472					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	TCAGGGATCTCCACATCTGCG	0.572																																						uc002xut.2		NaN																	0				skin(2)|ovary(1)	3						c.(1414-1416)GAG>CAG		prostaglandin I2 synthase	Phenylbutazone(DB00812)						131.0	84.0	100.0					20																	48124546		2203	4300	6503	SO:0001583	missense	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48124546C>G		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1414G>C	20.37:g.48124546C>G	ENSP00000244043:p.Glu472Gln					PTGIS_uc010zyi.1_Missense_Mutation_p.E333Q	p.E472Q	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		10	1468	-			472					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.1414G>C	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	3.977	-0.007165	0.07773	.	.	ENSG00000124212	ENST00000244043	T	0.68903	-0.36	4.9	2.67	0.31697	.	1.424290	0.04277	N	0.343098	T	0.47135	0.1429	N	0.16743	0.435	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.38929	-0.9638	10	0.22706	T	0.39	-22.2689	2.9283	0.05792	0.0:0.4883:0.2633:0.2484	.	472	Q16647	PTGIS_HUMAN	Q	472	ENSP00000244043:E472Q	ENSP00000244043:E472Q	E	-	1	0	PTGIS	47557953	0.000000	0.05858	0.031000	0.17742	0.172000	0.22775	0.804000	0.27098	2.279000	0.76181	0.462000	0.41574	GAG		0.572	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2				10	72	0	0	0	0.008291	0	10	72		
SALL4	57167	broad.mit.edu	37	20	50401158	50401158	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:50401158C>G	ENST00000217086.4	-	4	2919	c.2808G>C	c.(2806-2808)gaG>gaC	p.E936D	SALL4_ENST00000395997.3_Missense_Mutation_p.E499D|SALL4_ENST00000371539.3_Missense_Mutation_p.E159D	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	936					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCATGGTGTTCTCGATGGCCA	0.493																																						uc002xwh.3		NaN																	0				ovary(2)	2						c.(2806-2808)GAG>GAC		sal-like 4							110.0	94.0	99.0					20																	50401158		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50401158C>G	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2808G>C	20.37:g.50401158C>G	ENSP00000217086:p.Glu936Asp					SALL4_uc010gii.2_Missense_Mutation_p.E499D|SALL4_uc002xwi.3_Missense_Mutation_p.E159D	p.E936D	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			4	2909	-			936					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2808G>C	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	9.817	1.184677	0.21870	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.08984	3.03;3.23;3.28	4.65	3.56	0.40772	.	0.000000	0.43747	D	0.000536	T	0.11153	0.0272	L	0.32530	0.975	0.40227	D	0.977802	B;D;D	0.62365	0.026;0.988;0.991	B;P;P	0.57425	0.005;0.76;0.82	T	0.18713	-1.0328	10	0.10902	T	0.67	-34.3703	10.0813	0.42391	0.4551:0.5449:0.0:0.0	.	499;159;936	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	D	936;499;159	ENSP00000217086:E936D;ENSP00000379319:E499D;ENSP00000360594:E159D	ENSP00000217086:E936D	E	-	3	2	SALL4	49834565	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.576000	0.36504	2.303000	0.77524	0.561000	0.74099	GAG		0.493	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3				8	94	0	0	0	0.004482	0	8	94		
ZFP64	55734	broad.mit.edu	37	20	50768754	50768754	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:50768754C>T	ENST00000216923.4	-	6	2326	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Silent_p.Q605Q|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Silent_p.Q657Q|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGGAGTAGGTCTGCTTGGGTA	0.547																																						uc002xwl.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1975-1977)CAG>CAA		zinc finger protein 64 isoform a							91.0	81.0	84.0					20																	50768754		2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50768754C>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1977G>A	20.37:g.50768754C>T						ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.Q657Q|ZFP64_uc002xwn.2_Silent_p.Q605Q	p.Q659Q	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN			6	2326	-			659					Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	c.1977G>A	CCDS13440.1																																																																																				0.547	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1		NM_018197		4	126	0	0	0	0.001168	0	4	126		
TAF4	6874	broad.mit.edu	37	20	60578285	60578285	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:60578285G>A	ENST00000252996.4	-	9	2416	c.2417C>T	c.(2416-2418)tCt>tTt	p.S806F		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	806					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CGAGACAGCAGAAAGGGCTTT	0.493																																						uc002ybs.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2416-2418)TCT>TTT		TBP-associated factor 4							112.0	103.0	106.0					20																	60578285		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60578285G>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2417C>T	20.37:g.60578285G>A	ENSP00000252996:p.Ser806Phe						p.S806F	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		9	2417	-	Breast(26;1e-08)		806					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2417C>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815935	0.70912	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.27402	1.7;1.67	4.81	4.81	0.61882	.	0.379586	0.27379	N	0.019625	T	0.37489	0.1005	L	0.34521	1.04	0.54753	D	0.999987	D	0.54397	0.966	P	0.52159	0.691	T	0.25916	-1.0118	10	0.62326	D	0.03	-13.2722	17.8775	0.88829	0.0:0.0:1.0:0.0	.	806	O00268	TAF4_HUMAN	F	806;670	ENSP00000252996:S806F;ENSP00000399091:S670F	ENSP00000252996:S806F	S	-	2	0	TAF4	60011680	0.993000	0.37304	0.062000	0.19696	0.595000	0.36748	5.213000	0.65230	2.205000	0.71048	0.563000	0.77884	TCT		0.493	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2		NM_003185		7	111	0	0	0	0.00308	0	7	111		
EEF1A2	1917	broad.mit.edu	37	20	62120317	62120317	+	Silent	SNP	C	C	A	rs377632570		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:62120317C>A	ENST00000298049.7	-	6	1288	c.1218G>T	c.(1216-1218)ccG>ccT	p.P406P	EEF1A2_ENST00000217182.3_Silent_p.P406P			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	406					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGGGCTTTCCCGGCACCATCT	0.647																																						uc002yfd.1		NaN																	0					0						c.(1216-1218)CCG>CCT		eukaryotic translation elongation factor 1 alpha							49.0	48.0	48.0					20																	62120317		2194	4285	6479	SO:0001819	synonymous_variant	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62120317C>A	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.1218G>T	20.37:g.62120317C>A						EEF1A2_uc002yfe.1_Silent_p.P406P|EEF1A2_uc010gkg.1_Intron	p.P406P	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		6	1319	-	all_cancers(38;9.45e-12)		406					B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	c.1218G>T	CCDS13522.1																																																																																				0.647	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1		NM_001958		10	72	1	0	6.40141e-05	0.010729	6.70305e-05	10	72		
TPD52L2	7165	broad.mit.edu	37	20	62500783	62500783	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:62500783G>C	ENST00000346249.4	+	2	230	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	TPD52L2_ENST00000351424.4_Missense_Mutation_p.E52Q|TPD52L2_ENST00000348257.5_Missense_Mutation_p.E52Q|TPD52L2_ENST00000352482.4_Missense_Mutation_p.E52Q|TPD52L2_ENST00000217121.5_Missense_Mutation_p.E52Q|TPD52L2_ENST00000358548.4_Missense_Mutation_p.E52Q|TPD52L2_ENST00000369927.4_Missense_Mutation_p.E29Q	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	52					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					GCTCAGGGCTGAGCTTACCAA	0.597																																						uc002yhc.2		NaN																	0				ovary(1)|skin(1)	2						c.(154-156)GAG>CAG		tumor protein D52-like 2 isoform e							96.0	96.0	96.0					20																	62500783		2203	4300	6503	SO:0001583	missense	7165				regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity	g.chr20:62500783G>C	AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.154G>C	20.37:g.62500783G>C	ENSP00000343547:p.Glu52Gln					TPD52L2_uc002ygy.2_Missense_Mutation_p.E52Q|TPD52L2_uc002ygz.2_Missense_Mutation_p.E52Q|TPD52L2_uc002yha.2_Missense_Mutation_p.E52Q|TPD52L2_uc002yhb.2_Missense_Mutation_p.E52Q|TPD52L2_uc002yhd.2_Missense_Mutation_p.E52Q|TPD52L2_uc011abk.1_Intron|TPD52L2_uc011abl.1_Missense_Mutation_p.E29Q	p.E52Q	NM_003288	NP_003279	O43399	TPD54_HUMAN			2	283	+	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		52			Potential.		B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	ENST00000346249.4	37	c.154G>C	CCDS13540.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780829	0.90195	.	.	ENSG00000101150	ENST00000369927;ENST00000346249;ENST00000348257;ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	M	0.72576	2.205	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;0.999;0.999;0.972;0.988	D;D;D;D;D;P;D	0.97110	0.992;1.0;1.0;0.999;0.997;0.836;0.934	T	0.64287	-0.6443	10	0.51188	T	0.08	-29.9052	16.457	0.84021	0.0:0.0:1.0:0.0	.	29;52;52;52;52;52;52	B4DPJ6;Q68E05;O43399;O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;TPD54_HUMAN;.;.;.;.	Q	29;52;52;52;52;52;52	ENSP00000358943:E29Q;ENSP00000343547:E52Q;ENSP00000343554:E52Q;ENSP00000344647:E52Q;ENSP00000340006:E52Q;ENSP00000217121:E52Q;ENSP00000351350:E52Q	ENSP00000217121:E52Q	E	+	1	0	TPD52L2	61971227	1.000000	0.71417	0.973000	0.42090	0.933000	0.57130	8.567000	0.90737	2.665000	0.90641	0.650000	0.86243	GAG		0.597	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080248.1				6	78	0	0	0	0.004482	0	6	78		
ZNF512B	57473	broad.mit.edu	37	20	62659889	62659889	+	Intron	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:62659889A>T	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.M760L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AAATACACTCATGGCCAAGGC	0.652																																						uc002yho.2		NaN																	0				ovary(2)	2						c.(2398-2400)ATG>TTG		PRP6 pre-mRNA processing factor 6 homolog							70.0	65.0	67.0					20																	62659889		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62659889A>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+20168T>A	20.37:g.62659889A>T						PRPF6_uc002yhp.2_Missense_Mutation_p.M760L	p.M800L	NM_012469	NP_036601	O94906	PRP6_HUMAN			18	2566	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		800					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.2398A>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317332	0.40996	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.24350	1.86;1.86	5.51	5.51	0.81932	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.17280	0.0415	N	0.20610	0.595	0.80722	D	1	B;B	0.15719	0.014;0.013	B;B	0.20184	0.028;0.012	T	0.07065	-1.0792	10	0.09590	T	0.72	-42.0215	15.6245	0.76845	1.0:0.0:0.0:0.0	.	760;800	O94906-2;O94906	.;PRP6_HUMAN	L	800;760	ENSP00000266079:M800L;ENSP00000446216:M760L	ENSP00000266079:M800L	M	+	1	0	PRPF6	62130333	1.000000	0.71417	0.992000	0.48379	0.784000	0.44337	9.254000	0.95512	2.095000	0.63458	0.528000	0.53228	ATG		0.652	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1		NM_020713		11	122	0	0	0	0.013537	0	11	122		
PCMTD2	55251	broad.mit.edu	37	20	62896743	62896743	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:62896743C>T	ENST00000308824.6	+	4	670	c.543C>T	c.(541-543)ctC>ctT	p.L181L	PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000369758.4_Silent_p.L181L|PCMTD2_ENST00000299468.7_Silent_p.L181L	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	181						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAATCTTCTCAAAGTGGGAG	0.483																																						uc002yil.3		NaN																	0					0						c.(541-543)CTC>CTT		protein-L-isoaspartate (D-aspartate)							159.0	141.0	147.0					20																	62896743		2203	4300	6503	SO:0001819	synonymous_variant	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62896743C>T	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.543C>T	20.37:g.62896743C>T						PCMTD2_uc002yim.3_Silent_p.L181L	p.L181L	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN			4	743	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		181					E1P5H3|Q8IW60|Q9H4K2	Silent	SNP	ENST00000308824.6	37	c.543C>T	CCDS13559.1																																																																																				0.483	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1		NM_018257		8	107	0	0	0	0.006214	0	8	107		
TSPEAR	54084	broad.mit.edu	37	21	45950980	45950980	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr21:45950980C>T	ENST00000323084.4	-	4	644	c.579G>A	c.(577-579)gtG>gtA	p.V193V	TSPEAR_ENST00000397916.1_Silent_p.V125V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	193	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GAGCTCCTTTCACTGACAGGG	0.567																																						uc002zfe.1		NaN																	0					0						c.(577-579)GTG>GTA		chromosome 21 open reading frame 29 precursor							80.0	67.0	72.0					21																	45950980		2203	4300	6503	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45950980C>T	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.579G>A	21.37:g.45950980C>T						C21orf29_uc010gpv.1_Silent_p.V125V	p.V193V	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			4	645	-			193			TSP N-terminal.			Silent	SNP	ENST00000323084.4	37	c.579G>A	CCDS13712.1																																																																																				0.567	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1		NM_144991		4	44	0	0	0	0.000602	0	4	44		
MRPL40	64976	broad.mit.edu	37	22	19422269	19422269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:19422269C>T	ENST00000333130.3	+	3	801	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F	HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	50					anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					ATCAGAACCTCTTCGAAAAAA	0.383																																						uc002zpg.2		NaN																	0					0						c.(148-150)CTT>TTT		mitochondrial ribosomal protein L40 precursor							58.0	59.0	59.0					22																	19422269		2203	4300	6503	SO:0001583	missense	64976				anatomical structure morphogenesis	mitochondrial ribosome|nucleus		g.chr22:19422269C>T	AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"""Mitochondrial ribosomal proteins / large subunits"""	14491	protein-coding gene	gene with protein product		605089	"""nuclear localization signal deleted in velocardiofacial syndrome"""	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.148C>T	22.37:g.19422269C>T	ENSP00000333401:p.Leu50Phe					HIRA_uc010gro.1_Intron|HIRA_uc010grp.2_Intron|MRPL40_uc002zph.2_Missense_Mutation_p.L6F	p.L50F	NM_003776	NP_003767	Q9NQ50	RM40_HUMAN			3	190	+	Colorectal(54;0.0993)		50					B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	37	c.148C>T	CCDS13760.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970306	0.34754	.	.	ENSG00000185608	ENST00000333130	T	0.49720	0.77	4.29	0.866	0.19079	.	0.361243	0.20022	N	0.100899	T	0.49575	0.1565	M	0.83953	2.67	0.09310	N	0.999996	B	0.30406	0.278	B	0.39617	0.305	T	0.51787	-0.8661	10	0.56958	D	0.05	-0.4097	2.8833	0.05654	0.1859:0.5321:0.1802:0.1018	.	50	Q9NQ50	RM40_HUMAN	F	50	ENSP00000333401:L50F	ENSP00000333401:L50F	L	+	1	0	MRPL40	17802269	0.169000	0.23002	0.040000	0.18447	0.941000	0.58515	0.630000	0.24553	0.162000	0.19483	-0.266000	0.10368	CTT		0.383	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2		NM_003776		3	22	0	0	0	0.004672	0	3	22		
GGT1	2678	broad.mit.edu	37	22	25023891	25023891	+	Silent	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:25023891C>A	ENST00000400382.1	+	13	2036	c.1281C>A	c.(1279-1281)ccC>ccA	p.P427P	GGT1_ENST00000403838.1_Silent_p.P83P|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000248923.4_Silent_p.P427P|GGT1_ENST00000401885.1_Silent_p.P83P|GGT1_ENST00000406383.2_Silent_p.P427P|GGT1_ENST00000404920.1_Silent_p.P83P|GGT1_ENST00000404532.1_Silent_p.P83P|GGT1_ENST00000404223.1_Silent_p.P83P|GGT1_ENST00000400380.1_Silent_p.P427P|GGT1_ENST00000400383.1_Silent_p.P427P			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	427					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCAGCTCTCCCAGCATCACCA	0.617																																						uc003aan.1		NaN																	0					0						c.(1279-1281)CCC>CCA		gamma-glutamyltransferase 1 precursor	Glutathione(DB00143)						76.0	82.0	80.0					22																	25023891		2203	4300	6503	SO:0001819	synonymous_variant	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25023891C>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1281C>A	22.37:g.25023891C>A						GGT1_uc003aas.1_Silent_p.P427P|GGT1_uc003aat.1_Silent_p.P427P|GGT1_uc003aau.1_Silent_p.P427P|GGT1_uc003aav.1_Silent_p.P427P|GGT1_uc003aaw.1_Silent_p.P427P|GGT1_uc003aax.1_Silent_p.P427P|GGT1_uc003aay.1_Silent_p.P83P	p.P427P	NM_013430	NP_038347	P19440	GGT1_HUMAN			13	1768	+			427			Extracellular (Potential).		Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	c.1281C>A	CCDS42992.1																																																																																				0.617	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1		NM_013430		12	201	1	0	2.31682e-05	0.003163	2.43876e-05	12	201		
MYO18B	84700	broad.mit.edu	37	22	26286783	26286783	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:26286783G>A	ENST00000407587.2	+	26	4547	c.4378G>A	c.(4378-4380)Gtg>Atg	p.V1460M	CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.V1459M|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.V1459M|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1459	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCCTGCCAGGTGCTGGAGAG	0.612																																						uc003abz.1		NaN																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(4375-4377)GTG>ATG		myosin XVIIIB							66.0	70.0	69.0					22																	26286783		2132	4249	6381	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26286783G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4378G>A	22.37:g.26286783G>A	ENSP00000386096:p.Val1460Met					MYO18B_uc003aca.1_Missense_Mutation_p.V1340M|MYO18B_uc010guy.1_Missense_Mutation_p.V1341M|MYO18B_uc010guz.1_Missense_Mutation_p.V1340M|MYO18B_uc011aka.1_Missense_Mutation_p.V613M|MYO18B_uc011akb.1_Missense_Mutation_p.V972M	p.V1459M	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			26	4625	+			1459			Potential.|Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4375G>A		.	.	.	.	.	.	.	.	.	.	G	16.67	3.188884	0.57909	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86956	-2.16;-2.16;-2.19	5.48	5.48	0.80851	.	0.582788	0.17208	N	0.182841	D	0.86908	0.6046	L	0.57536	1.79	0.24558	N	0.993989	P;P;P;P	0.41848	0.634;0.651;0.717;0.763	B;B;B;B	0.41571	0.36;0.197;0.269;0.36	T	0.82450	-0.0451	10	0.56958	D	0.05	.	16.8457	0.85980	0.0:0.0:1.0:0.0	.	972;1459;1460;1459	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	M	1459;1459;1460	ENSP00000441229:V1459M;ENSP00000334563:V1459M;ENSP00000386096:V1460M	ENSP00000334563:V1459M	V	+	1	0	MYO18B	24616783	0.999000	0.42202	0.963000	0.40424	0.975000	0.68041	2.385000	0.44371	2.578000	0.87016	0.460000	0.39030	GTG		0.612	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1		NM_032608		7	37	0	0	0	0.004482	0	7	37		
HPS4	89781	broad.mit.edu	37	22	26860092	26860092	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:26860092C>T	ENST00000398145.2	-	11	2120	c.1504G>A	c.(1504-1506)Gca>Aca	p.A502T	HPS4_ENST00000402105.3_Missense_Mutation_p.A497T|HPS4_ENST00000336873.5_Missense_Mutation_p.A502T|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000398141.1_Missense_Mutation_p.A515T	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	502					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CCAGGGGCTGCGTGGCTTTCA	0.567									Hermansky-Pudlak syndrome																													uc003acl.2		NaN																	0					0						c.(1504-1506)GCA>ACA		light ear protein isoform a							136.0	131.0	133.0					22																	26860092		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26860092C>T		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1504G>A	22.37:g.26860092C>T	ENSP00000381213:p.Ala502Thr					HPS4_uc003aci.2_Missense_Mutation_p.A497T|HPS4_uc003acj.2_Missense_Mutation_p.A366T|HPS4_uc003ack.2_Missense_Mutation_p.A293T|HPS4_uc003acn.2_Missense_Mutation_p.A348T|HPS4_uc010gvd.1_Missense_Mutation_p.A520T|HPS4_uc003ach.2_Missense_Mutation_p.A237T	p.A502T	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN			11	2163	-			502					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.1504G>A	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	C	8.921	0.961089	0.18583	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.31769	1.49;1.48;1.49;1.49	3.74	-5.41	0.02648	.	1.616910	0.03376	N	0.199655	T	0.09291	0.0229	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B;B	0.13594	0.003;0.008;0.008;0.003;0.008;0.003	B;B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.002;0.002	T	0.13335	-1.0513	9	.	.	.	0.4396	2.6391	0.04966	0.4389:0.1561:0.3053:0.0997	.	502;502;502;502;515;497	Q6ICH6;Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;.;HPS4_HUMAN;.;.;.	T	502;515;497;502	ENSP00000381213:A502T;ENSP00000381210:A515T;ENSP00000384185:A497T;ENSP00000338457:A502T	.	A	-	1	0	HPS4	25190092	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.574000	0.05868	-1.206000	0.02641	-0.137000	0.14449	GCA		0.567	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1		NM_022081		27	148	0	0	0	0.004878	0	27	148		
DRG1	4733	broad.mit.edu	37	22	31822752	31822752	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:31822752C>G	ENST00000331457.4	+	7	1026	c.865C>G	c.(865-867)Ctg>Gtg	p.L289V		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	289	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CTGGGACTATCTGAAACTAGT	0.398																																						uc003aku.2		NaN																	0				central_nervous_system(1)	1						c.(865-867)CTG>GTG		developmentally regulated GTP binding protein 1							104.0	98.0	100.0					22																	31822752		2203	4300	6503	SO:0001583	missense	4733				multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding	g.chr22:31822752C>G	AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"""developmentally regulated GTP-binding protein 1"""	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.865C>G	22.37:g.31822752C>G	ENSP00000329715:p.Leu289Val						p.L289V	NM_004147	NP_004138	Q9Y295	DRG1_HUMAN			7	996	+			289					B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	Missense_Mutation	SNP	ENST00000331457.4	37	c.865C>G	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312641	0.60414	.	.	ENSG00000185721	ENST00000331457	T	0.21734	1.99	5.59	1.21	0.21127	.	0.000000	0.85682	D	0.000000	T	0.35653	0.0939	H	0.97415	4	0.58432	D	0.999999	P	0.45672	0.864	B	0.38921	0.285	T	0.55042	-0.8202	10	0.87932	D	0	-11.7973	8.9199	0.35605	0.0:0.6433:0.0:0.3567	.	289	Q9Y295	DRG1_HUMAN	V	289	ENSP00000329715:L289V	ENSP00000329715:L289V	L	+	1	2	DRG1	30152752	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.669000	0.25142	0.725000	0.32318	0.650000	0.86243	CTG		0.398	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5		NM_004147		13	104	0	0	0	0.00499	0	13	104		
SSTR3	6753	broad.mit.edu	37	22	37603237	37603237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:37603237C>T	ENST00000328544.3	-	2	1139	c.606G>A	c.(604-606)tgG>tgA	p.W202*	SSTR3_ENST00000402501.1_Nonsense_Mutation_p.W202*	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	202					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	AGCCGGCTCGCCAGGCCGCCG	0.682																																						uc003ara.2		NaN																	0				lung(1)	1						c.(604-606)TGG>TGA		somatostatin receptor 3							10.0	13.0	12.0					22																	37603237		2142	4203	6345	SO:0001587	stop_gained	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603237C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.606G>A	22.37:g.37603237C>T	ENSP00000330138:p.Trp202*					SSTR3_uc003arb.2_Nonsense_Mutation_p.W202*	p.W202*	NM_001051	NP_001042	P32745	SSR3_HUMAN			2	668	-			202			Extracellular (Potential).		A8K550|Q53ZR7	Nonsense_Mutation	SNP	ENST00000328544.3	37	c.606G>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	40	8.090878	0.98648	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7356	0.96200	0.0:1.0:0.0:0.0	.	.	.	.	X	202	.	ENSP00000330138:W202X	W	-	3	0	SSTR3	35933183	1.000000	0.71417	0.993000	0.49108	0.443000	0.32047	6.070000	0.71220	2.677000	0.91161	0.551000	0.68910	TGG		0.682	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1				3	16	0	0	0	0.004672	0	3	16		
ELFN2	114794	broad.mit.edu	37	22	37771107	37771107	+	Silent	SNP	G	G	A	rs150477054		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:37771107G>A	ENST00000402918.2	-	3	1253	c.468C>T	c.(466-468)atC>atT	p.I156I	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	156					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGGACAGGTCGATGCTGATGA	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17096	0.0		0.0	False		,,,				2504	0.0					uc003asq.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(466-468)ATC>ATT		leucine rich repeat containing 62		G		2,4404	4.2+/-10.8	0,2,2201	67.0	64.0	65.0		468	0.0	1.0	22	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ELFN2	NM_052906.3		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		156/821	37771107	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37771107G>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.468C>T	22.37:g.37771107G>A							p.I156I	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	1254	-	Melanoma(58;0.0574)		156			LRR 5.|Extracellular (Potential).		Q96PY3	Silent	SNP	ENST00000402918.2	37	c.468C>T	CCDS33642.1																																																																																				0.642	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2		NM_052906		7	86	0	0	0	0.00308	0	7	86		
ENTHD1	150350	broad.mit.edu	37	22	40139965	40139965	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:40139965C>T	ENST00000325157.6	-	7	1793	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	515										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GTGGAAAACTCCCCCCAGTGA	0.413																																						uc003ayg.2		NaN																	0				ovary(2)|skin(1)	3						c.(1543-1545)GAG>AAG		ENTH domain containing 1							52.0	52.0	52.0					22																	40139965		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40139965C>T	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1543G>A	22.37:g.40139965C>T	ENSP00000317431:p.Glu515Lys						p.E515K	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			7	1794	-	Melanoma(58;0.0749)		515					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.1543G>A	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555940	0.27827	.	.	ENSG00000176177	ENST00000325157	T	0.33654	1.4	5.75	4.55	0.56014	.	1.012140	0.07919	N	0.975663	T	0.32496	0.0831	L	0.51422	1.61	0.09310	N	1	P	0.43094	0.799	B	0.35931	0.214	T	0.16660	-1.0395	10	0.42905	T	0.14	-4.0954	10.5424	0.45041	0.0:0.8995:0.0:0.1005	.	515	Q8IYW4	ENTD1_HUMAN	K	515	ENSP00000317431:E515K	ENSP00000317431:E515K	E	-	1	0	ENTHD1	38469911	0.002000	0.14202	0.044000	0.18714	0.370000	0.29829	1.516000	0.35856	2.701000	0.92244	0.650000	0.86243	GAG		0.413	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1		NM_152512		4	38	0	0	0	0.009096	0	4	38		
ACO2	50	broad.mit.edu	37	22	41911842	41911842	+	Silent	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:41911842A>T	ENST00000216254.4	+	6	778	c.756A>T	c.(754-756)gcA>gcT	p.A252A	ACO2_ENST00000396512.3_Silent_p.A252A|ACO2_ENST00000466237.1_3'UTR	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	252					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						TGAAGGTGGCAGGCATCCTCA	0.612																																						uc003bac.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(754-756)GCA>GCT		aconitase 2, mitochondrial precursor							100.0	81.0	87.0					22																	41911842		2203	4300	6503	SO:0001819	synonymous_variant	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.chr22:41911842A>T	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.756A>T	22.37:g.41911842A>T						ACO2_uc003bad.2_Silent_p.A252A	p.A252A	NM_001098	NP_001089	Q99798	ACON_HUMAN			6	778	+			252					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Silent	SNP	ENST00000216254.4	37	c.756A>T	CCDS14017.1																																																																																				0.612	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1		NM_001098		9	72	0	0	0	0.004482	0	9	72		
CRELD2	79174	broad.mit.edu	37	22	50318084	50318084	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:50318084G>A	ENST00000328268.4	+	8	923	c.849G>A	c.(847-849)agG>agA	p.R283R	CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000404488.3_Silent_p.R332R|CRELD2_ENST00000403427.3_Silent_p.R255R|CRELD2_ENST00000407217.3_Intron	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	283						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GCTACGCGAGGGAGCACGGAC	0.597																																						uc003bja.2		NaN																	0					0						c.(847-849)AGG>AGA		cysteine-rich with EGF-like domains 2 isoform b							113.0	94.0	100.0					22																	50318084		2201	4297	6498	SO:0001819	synonymous_variant	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50318084G>A	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.849G>A	22.37:g.50318084G>A						CRELD2_uc010haj.2_Silent_p.R283R|CRELD2_uc010hal.2_Silent_p.R332R|CRELD2_uc010hak.2_Silent_p.R255R|CRELD2_uc010ham.2_Intron	p.R283R	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	8	984	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	283			FU 2.		A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Silent	SNP	ENST00000328268.4	37	c.849G>A	CCDS14082.1																																																																																				0.597	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1		NM_024324		5	17	0	0	0	0.000602	0	5	17		
SBF1	6305	broad.mit.edu	37	22	50898430	50898430	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr22:50898430C>G	ENST00000390679.3	-	26	3626	c.3442G>C	c.(3442-3444)Gag>Cag	p.E1148Q	SBF1_ENST00000348911.6_Missense_Mutation_p.E1149Q|SBF1_ENST00000380817.3_Missense_Mutation_p.E1148Q|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1148	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGAAGGGCTCAGACTTGGCC	0.662																																						uc003blh.2		NaN																	0					0						c.(3442-3444)GAG>CAG		SET binding factor 1							44.0	52.0	49.0					22																	50898430		2121	4257	6378	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50898430C>G	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3442G>C	22.37:g.50898430C>G	ENSP00000375097:p.Glu1148Gln					SBF1_uc011arx.1_Missense_Mutation_p.E812Q	p.E1148Q	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	26	3637	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1148			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.3442G>C		.	.	.	.	.	.	.	.	.	.	C	18.66	3.671711	0.67928	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	T;T;T	0.11930	2.73;2.73;2.73	4.28	4.28	0.50868	Myotubularin phosphatase domain (1);	0.118471	0.56097	D	0.000027	T	0.39860	0.1094	M	0.80982	2.52	0.80722	D	1	D;D	0.71674	0.96;0.998	P;D	0.80764	0.809;0.994	T	0.38457	-0.9660	10	0.51188	T	0.08	.	16.4833	0.84163	0.0:1.0:0.0:0.0	.	1148;1148	O95248;O95248-4	MTMR5_HUMAN;.	Q	1148;1149;1158;1148	ENSP00000370196:E1148Q;ENSP00000252027:E1149Q;ENSP00000375097:E1148Q	ENSP00000336522:E1158Q	E	-	1	0	SBF1	49245296	1.000000	0.71417	0.982000	0.44146	0.781000	0.44180	5.739000	0.68622	2.196000	0.70406	0.561000	0.74099	GAG		0.662	SBF1-201	KNOWN	basic	protein_coding	protein_coding					7	63	0	0	0	0.004482	0	7	63		
CHL1	10752	broad.mit.edu	37	3	432754	432754	+	Silent	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:432754T>C	ENST00000256509.2	+	22	3345	c.2703T>C	c.(2701-2703)ttT>ttC	p.F901F	CHL1_ENST00000397491.2_Silent_p.F885F	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TAGATGCCTTTAGTGAATTTC	0.383																																						uc003bou.2		NaN																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(2653-2655)TTT>TTC		cell adhesion molecule with homology to L1CAM							102.0	108.0	106.0					3																	432754		2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:432754T>C	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2703T>C	3.37:g.432754T>C						CHL1_uc003bot.2_Silent_p.F901F|CHL1_uc003bow.1_Silent_p.F885F|CHL1_uc011asi.1_Silent_p.F901F	p.F885F	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	21	2926	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	885			Fibronectin type-III 3.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.2655T>C	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	T	10.20	1.285276	0.23478	.	.	ENSG00000134121	ENST00000445697	.	.	.	5.75	-1.73	0.08081	.	.	.	.	.	T	0.65780	0.2724	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63070	-0.6719	4	.	.	.	.	14.5272	0.67897	0.0:0.6663:0.0:0.3337	.	.	.	.	S	88	.	.	L	+	2	0	CHL1	407754	0.975000	0.34042	0.850000	0.33497	0.990000	0.78478	0.091000	0.15046	-0.537000	0.06290	-0.290000	0.09829	TTA		0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2		NM_006614		13	46	0	0	0	0.004007	0	13	46		
CNTN6	27255	broad.mit.edu	37	3	1367618	1367618	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:1367618G>A	ENST00000446702.2	+	9	1693	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	CNTN6_ENST00000539053.1_Missense_Mutation_p.E284K|CNTN6_ENST00000350110.2_Missense_Mutation_p.E356K			Q9UQ52	CNTN6_HUMAN	contactin 6	356	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAAAATGGTGAACGACTCAA	0.358																																						uc003boz.2		NaN																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(1066-1068)GAA>AAA		contactin 6 precursor							109.0	104.0	105.0					3																	1367618		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1367618G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1066G>A	3.37:g.1367618G>A	ENSP00000407822:p.Glu356Lys					CNTN6_uc011asj.1_Missense_Mutation_p.E284K|CNTN6_uc003bpa.2_Missense_Mutation_p.E356K	p.E356K	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	9	1333	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	356			Ig-like C2-type 4.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.1066G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598723	0.46318	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.66638	-0.22;-0.22;-0.22	5.26	3.33	0.38152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.231325	0.29830	N	0.011096	T	0.57446	0.2054	L	0.33137	0.985	0.39480	D	0.967867	P	0.45768	0.866	P	0.44597	0.454	T	0.56926	-0.7898	10	0.27785	T	0.31	.	13.3989	0.60870	0.0:0.4655:0.5345:0.0	.	356	Q9UQ52	CNTN6_HUMAN	K	356;284;356	ENSP00000407822:E356K;ENSP00000442791:E284K;ENSP00000341882:E356K	ENSP00000341882:E356K	E	+	1	0	CNTN6	1342618	0.995000	0.38212	0.821000	0.32701	0.192000	0.23643	2.441000	0.44864	1.191000	0.43056	0.650000	0.86243	GAA		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2		NM_014461		3	56	0	0	0	0.004672	0	3	56		
C3orf20	84077	broad.mit.edu	37	3	14798893	14798893	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:14798893G>A	ENST00000253697.3	+	13	2408	c.1956G>A	c.(1954-1956)gaG>gaA	p.E652E	C3orf20_ENST00000435614.1_Silent_p.E530E|C3orf20_ENST00000412910.1_Silent_p.E530E	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	652						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGGCCCGCGAGGGGCGCAGCC	0.667																																						uc003byy.2		NaN																	0				ovary(3)|skin(1)	4						c.(1954-1956)GAG>GAA		hypothetical protein LOC84077							22.0	23.0	23.0					3																	14798893		2203	4299	6502	SO:0001819	synonymous_variant	84077					cytoplasm|integral to membrane		g.chr3:14798893G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1956G>A	3.37:g.14798893G>A						C3orf20_uc003byz.2_Silent_p.E530E|C3orf20_uc003bza.2_Silent_p.E530E|C3orf20_uc003bzb.1_Silent_p.E153E|C3orf20_uc011avj.1_5'UTR	p.E652E	NM_032137	NP_115513	Q8ND61	CC020_HUMAN			13	2360	+			652					Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	ENST00000253697.3	37	c.1956G>A	CCDS33706.1																																																																																				0.667	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1		NM_032137		3	13	0	0	0	0.004672	0	3	13		
SLC4A7	9497	broad.mit.edu	37	3	27436152	27436152	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:27436152G>A	ENST00000295736.5	-	20	3017	c.2947C>T	c.(2947-2949)Cat>Tat	p.H983Y	SLC4A7_ENST00000454389.1_Missense_Mutation_p.H992Y|SLC4A7_ENST00000455077.1_Missense_Mutation_p.H864Y|SLC4A7_ENST00000388777.4_Missense_Mutation_p.H533Y|SLC4A7_ENST00000437179.1_Missense_Mutation_p.H864Y|SLC4A7_ENST00000440156.1_Missense_Mutation_p.H979Y|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Missense_Mutation_p.H979Y|SLC4A7_ENST00000435667.2_Missense_Mutation_p.H868Y|SLC4A7_ENST00000428386.1_Missense_Mutation_p.H859Y|SLC4A7_ENST00000446700.1_Missense_Mutation_p.H975Y	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	983					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CTGTTGACATGACTTATTGAC	0.443																																						uc003cdv.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2947-2949)CAT>TAT		solute carrier family 4, sodium bicarbonate							108.0	101.0	103.0					3																	27436152		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27436152G>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2947C>T	3.37:g.27436152G>A	ENSP00000295736:p.His983Tyr					SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.H864Y|SLC4A7_uc011aww.1_Missense_Mutation_p.H992Y|SLC4A7_uc011awx.1_Missense_Mutation_p.H979Y|SLC4A7_uc011awy.1_Missense_Mutation_p.H975Y|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.H864Y|SLC4A7_uc011axb.1_Missense_Mutation_p.H979Y|SLC4A7_uc010hfl.2_Missense_Mutation_p.H533Y|SLC4A7_uc003cdw.2_Missense_Mutation_p.H859Y	p.H983Y	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			20	3018	-			983			Extracellular (Potential).		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.2947C>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317364	0.95682	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.96	5.96	0.96718	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	H	0.95816	3.725	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999;1.0;0.999;0.999;1.0	D	0.95675	0.8727	10	0.72032	D	0.01	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	979;864;975;979;992;533;859;983;864	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	Y	534;983;859;992;979;864;975;864;979;868;533;879	ENSP00000411031:H534Y;ENSP00000295736:H983Y;ENSP00000416368:H859Y;ENSP00000390394:H992Y;ENSP00000414797:H979Y;ENSP00000394252:H864Y;ENSP00000406605:H975Y;ENSP00000407382:H864Y;ENSP00000406804:H979Y;ENSP00000395336:H868Y;ENSP00000373429:H533Y;ENSP00000388703:H879Y	ENSP00000295736:H983Y	H	-	1	0	SLC4A7	27411156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	CAT		0.443	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2		NM_003615		19	77	0	0	0	0.00278	0	19	77		
EOMES	8320	broad.mit.edu	37	3	27763709	27763709	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:27763709C>T	ENST00000295743.4	-	1	280	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_Missense_Mutation_p.R26Q|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	26					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GCTGCCGCCTCGCGCACTCTC	0.637																																						uc003cdx.2		NaN																	0				ovary(3)|breast(1)	4						c.(76-78)CGA>CAA		eomesodermin							8.0	9.0	9.0					3																	27763709		1740	3746	5486	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27763709C>T	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.77G>A	3.37:g.27763709C>T	ENSP00000295743:p.Arg26Gln					EOMES_uc003cdy.3_Missense_Mutation_p.R26Q|EOMES_uc010hfn.2_Missense_Mutation_p.R26Q|EOMES_uc011axc.1_Intron	p.R26Q	NM_005442	NP_005433	O95936	EOMES_HUMAN			1	77	-			26					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.77G>A	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293785	0.60086	.	.	ENSG00000163508	ENST00000295743;ENST00000449599	D;D	0.86164	-2.08;-2.08	4.06	4.06	0.47325	.	5.390910	0.00916	N	0.002536	D	0.89322	0.6682	N	0.22421	0.69	0.80722	D	1	D;P;P	0.76494	0.999;0.937;0.896	P;B;B	0.59761	0.863;0.356;0.194	T	0.79349	-0.1840	10	0.62326	D	0.03	.	13.3237	0.60447	0.0:1.0:0.0:0.0	.	26;26;26	F5H3K1;G3XAI5;O95936	.;.;EOMES_HUMAN	Q	26	ENSP00000295743:R26Q;ENSP00000388620:R26Q	ENSP00000295743:R26Q	R	-	2	0	EOMES	27738713	0.994000	0.37717	1.000000	0.80357	0.983000	0.72400	1.611000	0.36879	2.120000	0.65058	0.456000	0.33151	CGA		0.637	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1		NM_005442		4	9	0	0	0	0.009096	0	4	9		
ZNF35	7584	broad.mit.edu	37	3	44700638	44700638	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:44700638G>C	ENST00000396056.2	+	4	1018	c.783G>C	c.(781-783)caG>caC	p.Q261H	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.Q101H|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	261					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCTTCATTCAGAGTGCAAACC	0.458																																						uc003cnq.2		NaN																	0					0						c.(781-783)CAG>CAC		zinc finger protein 35							71.0	66.0	67.0					3																	44700638		2203	4300	6503	SO:0001583	missense	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44700638G>C	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.783G>C	3.37:g.44700638G>C	ENSP00000379368:p.Gln261His					ZNF35_uc003cnr.2_Missense_Mutation_p.Q101H	p.Q261H	NM_003420	NP_003411	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	4	1004	+		Ovarian(412;0.0228)	261			C2H2-type 2.		B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	c.783G>C	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	G	12.35	1.913018	0.33815	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	T;T	0.07327	3.43;3.2	5.43	1.42	0.22433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44097	D	0.000493	T	0.13927	0.0337	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.11299	-1.0593	10	0.30078	T	0.28	-15.439	7.0174	0.24895	0.2818:0.1805:0.5377:0.0	.	261	P13682	ZNF35_HUMAN	H	261;101	ENSP00000379368:Q261H;ENSP00000443714:Q101H	ENSP00000379368:Q261H	Q	+	3	2	ZNF35	44675642	.	.	0.998000	0.56505	0.979000	0.70002	.	.	0.128000	0.18479	-0.797000	0.03246	CAG		0.458	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4		NM_003420		7	55	0	0	0	0.004482	0	7	55		
LRRC2	79442	broad.mit.edu	37	3	46586552	46586552	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:46586552G>A	ENST00000395905.3	-	3	709	c.317C>T	c.(316-318)tCt>tTt	p.S106F	LRRC2_ENST00000296144.3_Missense_Mutation_p.S106F|LRRC2_ENST00000496388.1_5'Flank	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	106										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GTGCTCCCCAGAAAGTTCAAA	0.537																																						uc010hji.2		NaN																	0				ovary(1)	1						c.(316-318)TCT>TTT		leucine rich repeat containing 2							223.0	191.0	202.0					3																	46586552		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46586552G>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.317C>T	3.37:g.46586552G>A	ENSP00000379241:p.Ser106Phe					LRRC2_uc003cpu.3_Missense_Mutation_p.S106F	p.S106F	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	3	681	-		Ovarian(412;0.0563)	106					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.317C>T	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	G	8.585	0.883247	0.17467	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.30182	1.54;1.54	5.34	3.46	0.39613	.	0.211384	0.32687	N	0.005779	T	0.26882	0.0658	L	0.51422	1.61	0.09310	N	1	B	0.20671	0.047	B	0.21360	0.034	T	0.19418	-1.0306	10	0.48119	T	0.1	.	9.0658	0.36462	0.0:0.3049:0.5378:0.1573	.	106	Q9BYS8	LRRC2_HUMAN	F	106	ENSP00000379241:S106F;ENSP00000296144:S106F	ENSP00000296144:S106F	S	-	2	0	LRRC2	46561556	0.127000	0.22367	0.042000	0.18584	0.738000	0.42128	0.983000	0.29552	0.696000	0.31696	0.650000	0.86243	TCT		0.537	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2				26	276	0	0	0	0.012213	0	26	276		
ALS2CL	259173	broad.mit.edu	37	3	46712990	46712990	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:46712990G>A	ENST00000318962.4	-	25	2852	c.2769C>T	c.(2767-2769)ctC>ctT	p.L923L	ALS2CL_ENST00000415953.1_Silent_p.L923L|ALS2CL_ENST00000383742.3_Silent_p.L270L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	923	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCAGGGCTGTGAGCAGGAAGT	0.592																																						uc003cqa.1		NaN																	0				breast(2)|central_nervous_system(2)|skin(1)	5						c.(2767-2769)CTC>CTT		ALS2 C-terminal like isoform 1							79.0	70.0	73.0					3																	46712990		2203	4300	6503	SO:0001819	synonymous_variant	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46712990G>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.2769C>T	3.37:g.46712990G>A						ALS2CL_uc003cpx.1_Silent_p.L270L|ALS2CL_uc003cpy.1_RNA|ALS2CL_uc003cpz.1_Silent_p.L438L|ALS2CL_uc003cqb.1_Silent_p.L923L|ALS2CL_uc003cqc.1_RNA	p.L923L	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	25	2959	-			923			VPS9.		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Silent	SNP	ENST00000318962.4	37	c.2769C>T	CCDS2743.1																																																																																				0.592	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3		NM_147129		5	68	0	0	0	0.000602	0	5	68		
SETD2	29072	broad.mit.edu	37	3	47155366	47155366	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:47155366G>A	ENST00000409792.3	-	5	4757	c.4715C>T	c.(4714-4716)tCg>tTg	p.S1572L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1572	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAGAACTTACGAAGGAAGGTC	0.448			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NaN		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(4714-4716)TCG>TTG		SET domain containing 2							110.0	111.0	111.0					3																	47155366		2203	4300	6503	SO:0001630	splice_region_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47155366G>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4715+1C>T	3.37:g.47155366G>A						SETD2_uc003cqv.2_Missense_Mutation_p.S1561L	p.S1572L	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	5	4768	-		Acute lymphoblastic leukemia(5;0.0169)	1572			SET.		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4715C>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024662	0.75390	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.81579	-1.51	4.53	4.53	0.55603	SET domain (3);	0.000000	0.47852	D	0.000209	T	0.75406	0.3845	L	0.48218	1.51	0.80722	D	1	P;P	0.52170	0.9;0.951	B;B	0.40506	0.111;0.331	T	0.76833	-0.2813	9	.	.	.	.	17.8075	0.88606	0.0:0.0:1.0:0.0	.	1572;1572	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	1572	ENSP00000386759:S1572L	.	S	-	2	0	SETD2	47130370	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.249000	0.78278	2.518000	0.84900	0.585000	0.79938	TCG		0.448	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	Missense_Mutation	3	56	0	0	0	0.004672	0	3	56		
SMARCC1	6599	broad.mit.edu	37	3	47777526	47777526	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:47777526G>C	ENST00000254480.5	-	5	693	c.574C>G	c.(574-576)Cag>Gag	p.Q192E	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	192					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCTATTACCTGATGTCGTTTG	0.348																																						uc003crq.2		NaN																	0				skin(2)|lung(1)	3						c.(574-576)CAG>GAG		SWI/SNF-related matrix-associated							193.0	170.0	178.0					3																	47777526		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47777526G>C	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.574C>G	3.37:g.47777526G>C	ENSP00000254480:p.Gln192Glu					SMARCC1_uc011bbd.1_Missense_Mutation_p.Q83E	p.Q192E	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	5	692	-			192					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.574C>G	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635104	0.87760	.	.	ENSG00000173473	ENST00000254480	T	0.57752	0.38	5.41	5.41	0.78517	BRCT (1);	0.111366	0.64402	D	0.000007	T	0.60894	0.2304	M	0.83953	2.67	0.80722	D	1	P	0.36753	0.568	B	0.38106	0.265	T	0.67964	-0.5534	10	0.72032	D	0.01	-3.5138	16.6951	0.85333	0.0:0.0:1.0:0.0	.	192	Q92922	SMRC1_HUMAN	E	192	ENSP00000254480:Q192E	ENSP00000254480:Q192E	Q	-	1	0	SMARCC1	47752530	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.842000	0.92136	2.534000	0.85438	0.544000	0.68410	CAG		0.348	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1				3	58	0	0	0	0.009096	0	3	58		
QRICH1	54870	broad.mit.edu	37	3	49114384	49114384	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:49114384G>A	ENST00000395443.2	-	2	539	c.67C>T	c.(67-69)Ccg>Tcg	p.P23S	QRICH1_ENST00000424300.1_Missense_Mutation_p.P23S|QRICH1_ENST00000357496.2_Missense_Mutation_p.P23S	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	23	CARD.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGTGTTGCGGGACAGACCGT	0.488																																						uc010hkq.2		NaN																	0				ovary(1)	1						c.(67-69)CCG>TCG		glutamine-rich 1							130.0	125.0	127.0					3																	49114384		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49114384G>A		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.67C>T	3.37:g.49114384G>A	ENSP00000378830:p.Pro23Ser					QRICH1_uc003cvu.2_Missense_Mutation_p.P23S|QRICH1_uc003cvv.2_Missense_Mutation_p.P23S	p.P23S	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	363	-			23			CARD.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.67C>T	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117055	0.94385	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300;ENST00000437939;ENST00000450685;ENST00000411682;ENST00000430979	T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.83101	0.5181	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.85132	0.0975	10	0.87932	D	0	.	19.2513	0.93926	0.0:0.0:1.0:0.0	.	23	Q2TAL8	QRIC1_HUMAN	S	23	ENSP00000378830:P23S;ENSP00000350094:P23S;ENSP00000412890:P23S;ENSP00000416133:P23S;ENSP00000413051:P23S;ENSP00000412870:P23S;ENSP00000405505:P23S	ENSP00000350094:P23S	P	-	1	0	QRICH1	49089388	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.556000	0.86216	0.655000	0.94253	CCG		0.488	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1		NM_017730		3	139	0	0	0	0.004672	0	3	139		
APEH	327	broad.mit.edu	37	3	49716346	49716346	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:49716346G>A	ENST00000296456.5	+	12	1522	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	APEH_ENST00000438011.1_Silent_p.Q374Q	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	374					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGACAGCCAGAGAGTGGTCT	0.602																																						uc003cxf.2		NaN																	0				ovary(1)	1						c.(1120-1122)CAG>CAA		N-acylaminoacyl-peptide hydrolase							94.0	87.0	89.0					3																	49716346		2203	4300	6503	SO:0001819	synonymous_variant	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49716346G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.1122G>A	3.37:g.49716346G>A						APEH_uc010hkw.1_Silent_p.Q374Q	p.Q374Q	NM_001640	NP_001631	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	12	1522	+			374					Q9BQ33|Q9P0Y2	Silent	SNP	ENST00000296456.5	37	c.1122G>A	CCDS2801.1																																																																																				0.602	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2				7	91	0	0	0	0.004482	0	7	91		
SLC38A3	10991	broad.mit.edu	37	3	50252990	50252990	+	RNA	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:50252990G>A	ENST00000420502.1	+	0	541									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		CCGTGCCTATGAGCAGCTGGG	0.627																																						uc003cyn.3		NaN																	0				breast(1)	1						c.(388-390)GAG>AAG		solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						48.0	52.0	51.0					3																	50252990		2097	4219	6316			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50252990G>A	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50252990G>A						SLC38A3_uc011bdl.1_Missense_Mutation_p.E105K|SLC38A3_uc011bdm.1_Missense_Mutation_p.E61K	p.E130K	NM_006841	NP_006832	Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	6	529	+			130						Missense_Mutation	SNP	ENST00000420502.1	37	c.388G>A																																																																																					0.627	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2		NM_006841		4	52	0	0	0	0.000602	0	4	52		
IFRD2	7866	broad.mit.edu	37	3	50327428	50327428	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:50327428G>A	ENST00000429673.2	-	5	669	c.670C>T	c.(670-672)Cac>Tac	p.H224Y	IFRD2_ENST00000436390.1_Missense_Mutation_p.H160Y|IFRD2_ENST00000417626.2_Missense_Mutation_p.H160Y|IFRD2_ENST00000336089.4_Missense_Mutation_p.H326Y|IFRD2_ENST00000484043.1_5'Flank			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	224						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCAGGCTGTGAAACAGCTCC	0.637																																						uc011bdp.1		NaN																	0				lung(2)|ovary(1)	3						c.(670-672)CAC>TAC		interferon-related developmental regulator 2							25.0	29.0	28.0					3																	50327428		2143	4258	6401	SO:0001583	missense	7866						binding	g.chr3:50327428G>A	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.670C>T	3.37:g.50327428G>A	ENSP00000398971:p.His224Tyr					IFRD2_uc003czb.2_Missense_Mutation_p.H326Y	p.H224Y	NM_006764	NP_006755	Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	5	799	-			224					Q9BVB4|Q9UJ88	Missense_Mutation	SNP	ENST00000429673.2	37	c.670C>T	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039673	0.55003	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.87	5.87	0.94306	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.389991	0.30869	N	0.008708	T	0.62392	0.2424	L	0.44542	1.39	0.28487	N	0.914662	P;P	0.51933	0.866;0.949	B;P	0.46208	0.369;0.507	T	0.63734	-0.6570	10	0.66056	D	0.02	-8.5146	17.713	0.88327	0.0:0.0:1.0:0.0	.	224;326	Q12894;Q9UJ88	IFRD2_HUMAN;.	Y	160;160;326;224	ENSP00000402849:H160Y;ENSP00000392316:H160Y;ENSP00000336936:H326Y;ENSP00000398971:H224Y	ENSP00000336936:H326Y	H	-	1	0	IFRD2	50302432	1.000000	0.71417	0.985000	0.45067	0.730000	0.41778	3.515000	0.53429	2.780000	0.95670	0.655000	0.94253	CAC		0.637	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_006764		5	14	0	0	0	0.000602	0	5	14		
CISH	1154	broad.mit.edu	37	3	50645378	50645378	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:50645378G>A	ENST00000348721.3	-	3	617	c.437C>T	c.(436-438)tCc>tTc	p.S146F	CISH_ENST00000443053.2_Missense_Mutation_p.S163F	NM_145071.2	NP_659508.1	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	146	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of signal transduction (GO:0009968)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCGTGGCCTGGACAAGCAGTT	0.582																																						uc003dax.2		NaN																	0					0						c.(436-438)TCC>TTC		cytokine-inducible SH2-containing protein							63.0	61.0	62.0					3																	50645378		2203	4300	6503	SO:0001583	missense	1154				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular		g.chr3:50645378G>A	Z77852	CCDS2831.1, CCDS46834.1	3p21.3	2013-02-14			ENSG00000114737	ENSG00000114737		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	1984	protein-coding gene	gene with protein product		602441				9465889, 7796808	Standard	NM_013324		Approved	CIS, G18, CIS-1, SOCS	uc003dax.3	Q9NSE2	OTTHUMG00000156853	ENST00000348721.3:c.437C>T	3.37:g.50645378G>A	ENSP00000294173:p.Ser146Phe					CISH_uc010hlq.2_Missense_Mutation_p.S163F	p.S146F	NM_145071	NP_659508	Q9NSE2	CISH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	3	618	-			146			SH2.		B2R9N1|G5E9R1|Q9NS38|Q9Y5R1	Missense_Mutation	SNP	ENST00000348721.3	37	c.437C>T	CCDS2831.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.058714	0.76074	.	.	ENSG00000114737	ENST00000443053;ENST00000348721	D;D	0.87491	-2.26;-2.26	5.64	5.64	0.86602	SH2 motif (4);	0.160575	0.56097	D	0.000035	D	0.90225	0.6944	L	0.49256	1.55	0.53005	D	0.999966	D;D	0.69078	0.997;0.992	P;D	0.65140	0.888;0.932	D	0.85673	0.1296	10	0.09084	T	0.74	-7.1018	19.3112	0.94188	0.0:0.0:1.0:0.0	.	163;146	G5E9R1;Q9NSE2	.;CISH_HUMAN	F	163;146	ENSP00000409346:S163F;ENSP00000294173:S146F	ENSP00000294173:S146F	S	-	2	0	CISH	50620382	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.955000	0.63638	2.648000	0.89879	0.563000	0.77884	TCC		0.582	CISH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346245.1		NM_145071		3	44	0	0	0	0.004672	0	3	44		
RAD54L2	23132	broad.mit.edu	37	3	51664777	51664777	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:51664777G>A	ENST00000409535.2	+	6	780	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	219						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGACAGCAGTGAATCTGTCAG	0.488																																						uc011bdt.1		NaN																	0				ovary(3)	3						c.(655-657)GAA>AAA		RAD54-like 2							97.0	82.0	87.0					3																	51664777		2203	4300	6503	SO:0001583	missense	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51664777G>A	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.655G>A	3.37:g.51664777G>A	ENSP00000386520:p.Glu219Lys					RAD54L2_uc003dbh.2_5'UTR|RAD54L2_uc011bdu.1_5'UTR|RAD54L2_uc003dbj.2_5'UTR	p.E219K	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	6	780	+			219					Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37	c.655G>A	CCDS33765.2	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701860	0.68501	.	.	ENSG00000164080	ENST00000409535	T	0.22743	1.94	5.8	5.8	0.92144	.	0.212901	0.47093	D	0.000248	T	0.16557	0.0398	N	0.17082	0.46	0.80722	D	1	B	0.22276	0.067	B	0.21917	0.037	T	0.06481	-1.0824	10	0.30078	T	0.28	-19.948	19.0588	0.93078	0.0:0.0:1.0:0.0	.	219	Q9Y4B4	ARIP4_HUMAN	K	219	ENSP00000386520:E219K	ENSP00000386520:E219K	E	+	1	0	RAD54L2	51639817	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.282000	0.78630	2.744000	0.94065	0.655000	0.94253	GAA		0.488	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2		NM_015106		4	36	0	0	0	0.001168	0	4	36		
PPM1M	132160	broad.mit.edu	37	3	52282434	52282434	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:52282434G>C	ENST00000296487.4	+	6	800	c.396G>C	c.(394-396)caG>caC	p.Q132H	PPM1M_ENST00000457351.2_Missense_Mutation_p.Q293H|PPM1M_ENST00000323588.4_Missense_Mutation_p.Q132H|PPM1M_ENST00000409502.3_Missense_Mutation_p.Q81H			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	132	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		ACTTGGGACAGAAGGTTTTGT	0.612																																					NSCLC(151;810 2688 34365 49863)	uc003ddf.3		NaN																	0					0						c.(394-396)CAG>CAC		RecName: Full=Protein phosphatase 1M;          EC=3.1.3.16; AltName: Full=Protein phosphatase 2C isoform eta;          Short=PP2C-eta;          Short=PP2CE;							38.0	40.0	40.0					3																	52282434		2203	4300	6503	SO:0001583	missense	132160				protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding	g.chr3:52282434G>C	AK096681	CCDS46840.1	3p21.31	2012-04-17	2010-03-05		ENSG00000164088	ENSG00000164088		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26506	protein-coding gene	gene with protein product	"""protein phosphatase 2C eta"""	608979	"""protein phosphatase 1M (PP2C domain containing)"""			12477932	Standard	NM_001122870		Approved	PP2Ceta, FLJ32332	uc011bed.2	Q96MI6	OTTHUMG00000153046	ENST00000296487.4:c.396G>C	3.37:g.52282434G>C	ENSP00000296487:p.Gln132His					PPM1M_uc011bed.1_Missense_Mutation_p.Q293H|PPM1M_uc010hmd.2_Missense_Mutation_p.Q132H|PPM1M_uc003ddg.3_Missense_Mutation_p.Q81H|PPM1M_uc003ddh.3_5'Flank	p.Q132H			Q96MI6	PPM1M_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)	6	761	+			132			PP2C-like.		Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000296487.4	37	c.396G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.52|14.52	2.559665|2.559665	0.45590|0.45590	.|.	.|.	ENSG00000164088|ENSG00000164088	ENST00000457351;ENST00000296487;ENST00000409502;ENST00000323588|ENST00000457454	T;T;T;T|.	0.45668|.	1.85;1.47;0.89;1.47|.	4.5|4.5	4.5|4.5	0.54988|0.54988	Protein phosphatase 2C-like (2);|.	0.222729|.	0.32671|.	N|.	0.005797|.	T|T	0.56016|0.56016	0.1957|0.1957	L|L	0.38838|0.38838	1.175|1.175	0.46458|0.46458	D|D	0.999055|0.999055	B;B|.	0.12630|.	0.006;0.003|.	B;B|.	0.21151|.	0.008;0.033|.	T|T	0.52253|0.52253	-0.8600|-0.8600	10|5	0.56958|.	D|.	0.05|.	3.3132|3.3132	13.0043|13.0043	0.58694|0.58694	0.0:0.1614:0.8386:0.0|0.0:0.1614:0.8386:0.0	.|.	293;132|.	B7XGB9;Q96MI6|.	.;PPM1M_HUMAN|.	H|T	293;132;81;132|188	ENSP00000393747:Q293H;ENSP00000296487:Q132H;ENSP00000387046:Q81H;ENSP00000319894:Q132H|.	ENSP00000296487:Q132H|.	Q|R	+|+	3|2	2|0	PPM1M|PPM1M	52257474|52257474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.499000|3.499000	0.53310|0.53310	2.327000|2.327000	0.79052|0.79052	0.561000|0.561000	0.74099|0.74099	CAG|AGA		0.612	PPM1M-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000329230.2		NM_144641		3	27	0	0	0	0.009096	0	3	27		
ITIH3	3699	broad.mit.edu	37	3	52835027	52835027	+	Silent	SNP	C	C	T	rs577541241		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:52835027C>T	ENST00000449956.2	+	11	1254	c.1248C>T	c.(1246-1248)atC>atT	p.I416I	ITIH3_ENST00000416872.2_Silent_p.I416I|ITIH3_ENST00000465243.2_3'UTR	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	416	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GGAATGCCATCGGGGGCAAGT	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21123	0.0		0.0	False		,,,				2504	0.0					uc003dfv.2		NaN																	0				ovary(2)|liver(1)	3						c.(1246-1248)ATC>ATT		inter-alpha (globulin) inhibitor H3							144.0	146.0	146.0					3																	52835027		1931	4133	6064	SO:0001819	synonymous_variant	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52835027C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1248C>T	3.37:g.52835027C>T						ITIH3_uc011bek.1_Silent_p.I416I	p.I416I	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	11	1284	+			416			VWFA.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	ENST00000449956.2	37	c.1248C>T	CCDS46845.1																																																																																				0.542	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2		NM_002217		25	172	0	0	0	0.007291	0	25	172		
OR5K1	26339	broad.mit.edu	37	3	98189002	98189002	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:98189002C>T	ENST00000332650.5	+	1	679	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	194						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(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCCTTATATCAATGAACTGG	0.333																																						uc003dsm.2		NaN																	0				large_intestine(1)	1						c.(580-582)ATC>ATT		olfactory receptor, family 5, subfamily K,							208.0	211.0	210.0					3																	98189002		2203	4299	6502	SO:0001819	synonymous_variant	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189002C>T	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.582C>T	3.37:g.98189002C>T							p.I194I	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			1	582	+			194			Extracellular (Potential).		B9EGY5|Q6IF46	Silent	SNP	ENST00000332650.5	37	c.582C>T	CCDS43115.1																																																																																				0.333	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1				14	159	0	0	0	0.00245	0	14	159		
GUCA1C	9626	broad.mit.edu	37	3	108626914	108626914	+	Silent	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:108626914G>T	ENST00000261047.3	-	4	717	c.585C>A	c.(583-585)tcC>tcA	p.S195S	GUCA1C_ENST00000393963.3_3'UTR	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	195					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						CAGGAGATTTGGAGGAGTCTG	0.453																																					NSCLC(157;1360 1999 30631 40189 44208)	uc003dxj.2		NaN																	0					0						c.(583-585)TCC>TCA		guanylate cyclase activator 1C							103.0	96.0	98.0					3																	108626914		2203	4300	6503	SO:0001819	synonymous_variant	9626				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr3:108626914G>T	AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"""EF-hand domain containing"""	4680	protein-coding gene	gene with protein product	"""guanylyl cyclase-activating protein 3"""	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.585C>A	3.37:g.108626914G>T						GUCA1C_uc003dxk.2_3'UTR	p.S195S	NM_005459	NP_005450	O95843	GUC1C_HUMAN			4	653	-			195					O95844|Q9UNM0	Silent	SNP	ENST00000261047.3	37	c.585C>A	CCDS2954.1																																																																																				0.453	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353819.1		NM_005459		7	38	1	0	7.03913e-09	0.013537	7.63739e-09	7	38		
PHLDB2	90102	broad.mit.edu	37	3	111603863	111603863	+	Silent	SNP	C	C	T	rs142557577		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:111603863C>T	ENST00000431670.2	+	2	1350	c.939C>T	c.(937-939)ccC>ccT	p.P313P	PHLDB2_ENST00000477695.1_Silent_p.P313P|PHLDB2_ENST00000393923.3_Silent_p.P340P|PHLDB2_ENST00000393925.3_Silent_p.P313P|PHLDB2_ENST00000412622.1_Silent_p.P313P|PHLDB2_ENST00000478922.1_Silent_p.P313P|PHLDB2_ENST00000481953.1_Silent_p.P313P	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	313						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGGCTTTACCCTATAAAACCT	0.448																																						uc010hqa.2		NaN																	0				ovary(4)|skin(2)	6						c.(937-939)CCC>CCT		pleckstrin homology-like domain, family B,		C	,,,	1,4405	2.1+/-5.4	0,1,2202	76.0	80.0	79.0		1020,939,939,939	1.6	1.0	3	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PHLDB2	NM_001134437.1,NM_001134438.1,NM_001134439.1,NM_145753.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	340/1238,313/1254,313/1254,313/1211	111603863	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603863C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.939C>T	3.37:g.111603863C>T						PHLDB2_uc003dyc.2_Silent_p.P340P|PHLDB2_uc003dyd.2_Silent_p.P313P|PHLDB2_uc003dyg.2_Silent_p.P313P|PHLDB2_uc003dyh.2_Silent_p.P313P|PHLDB2_uc003dye.3_Silent_p.P313P|PHLDB2_uc003dyf.3_Silent_p.P313P	p.P313P	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	1350	+			313					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.939C>T	CCDS46886.1																																																																																				0.448	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1		NM_145753		12	53	0	0	0	0.001855	0	12	53		
UROC1	131669	broad.mit.edu	37	3	126208126	126208126	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:126208126G>A	ENST00000290868.2	-	17	1754	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	UROC1_ENST00000383579.3_Silent_p.F627F	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	567					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CACCTGCACAGAAGGCAGAGC	0.468																																						uc003eiz.1		NaN																	0				ovary(1)	1						c.(1699-1701)TTC>TTT		urocanase domain containing 1 isoform 1							144.0	139.0	140.0					3																	126208126		2203	4300	6503	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126208126G>A	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1701C>T	3.37:g.126208126G>A						UROC1_uc010hsi.1_Silent_p.F627F	p.F567F	NM_144639	NP_653240	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	17	1733	-			567					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.1701C>T	CCDS3038.1																																																																																				0.468	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2		NM_144639		10	145	0	0	0	0.003163	0	10	145		
AMOTL2	51421	broad.mit.edu	37	3	134085127	134085127	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:134085127C>G	ENST00000422605.2	-	4	1350	c.1184G>C	c.(1183-1185)aGa>aCa	p.R395T	AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R395T|AMOTL2_ENST00000513145.1_Missense_Mutation_p.R395T|AMOTL2_ENST00000514516.1_Missense_Mutation_p.R453T			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	395					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTCTCACCTCTAAGATCCCG	0.498																																						uc003eqf.2		NaN																	0				large_intestine(1)	1						c.(1357-1359)AGA>ACA		angiomotin like 2							280.0	287.0	284.0					3																	134085127		2203	4300	6503	SO:0001583	missense	51421							g.chr3:134085127C>G	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1184G>C	3.37:g.134085127C>G	ENSP00000409999:p.Arg395Thr					AMOTL2_uc003eqg.1_Missense_Mutation_p.R395T|AMOTL2_uc003eqh.1_Missense_Mutation_p.R395T|AMOTL2_uc003eqe.1_Missense_Mutation_p.R20T	p.R453T	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN			4	1475	-			395			Potential.		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.1358G>C		.	.	.	.	.	.	.	.	.	.	C	20.8	4.051266	0.75960	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.28	4.35	0.52113	.	0.045607	0.85682	D	0.000000	T	0.39410	0.1077	M	0.80508	2.5	0.41880	D	0.990318	D;D;D	0.67145	0.996;0.996;0.993	P;P;P	0.59948	0.866;0.866;0.738	T	0.31336	-0.9947	10	0.62326	D	0.03	-24.9422	6.9354	0.24463	0.0:0.7032:0.1779:0.1189	.	395;395;453	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	T	395;395;453;395	ENSP00000249883:R395T;ENSP00000409999:R395T;ENSP00000424765:R453T;ENSP00000425475:R395T	ENSP00000249883:R395T	R	-	2	0	AMOTL2	135567817	1.000000	0.71417	0.970000	0.41538	0.928000	0.56348	4.699000	0.61796	2.476000	0.83614	0.455000	0.32223	AGA		0.498	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1		NM_016201		39	359	0	0	0	0.01441	0	39	359		
EPHB1	2047	broad.mit.edu	37	3	134851765	134851765	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:134851765G>T	ENST00000398015.3	+	5	1541	c.1171G>T	c.(1171-1173)Gtc>Ttc	p.V391F	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	391	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGAGTGCCGCGTCTCCATCAG	0.622																																						uc003eqt.2		NaN																	0				lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1171-1173)GTC>TTC		ephrin receptor EphB1 precursor							41.0	47.0	45.0					3																	134851765		2198	4296	6494	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851765G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1171G>T	3.37:g.134851765G>T	ENSP00000381097:p.Val391Phe					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	p.V391F	NM_004441	NP_004432	P54762	EPHB1_HUMAN			5	1391	+			391			Extracellular (Potential).|Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1171G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727956	0.89390	.	.	ENSG00000154928	ENST00000398015	T	0.59364	0.27	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.83649	0.5300	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88039	0.2780	10	0.87932	D	0	.	19.4235	0.94732	0.0:0.0:1.0:0.0	.	391	P54762	EPHB1_HUMAN	F	391	ENSP00000381097:V391F	ENSP00000381097:V391F	V	+	1	0	EPHB1	136334455	1.000000	0.71417	0.954000	0.39281	0.631000	0.37964	8.008000	0.88588	2.590000	0.87494	0.655000	0.94253	GTC		0.622	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1		NM_004441		7	39	1	0	5.18039e-06	0.00308	5.51105e-06	7	39		
PRR23A	729627	broad.mit.edu	37	3	138724624	138724624	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:138724624C>T	ENST00000383163.2	-	1	486	c.487G>A	c.(487-489)Gag>Aag	p.E163K	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	163										endometrium(3)|kidney(1)|lung(7)	11						TCCGGAAACTCGGGGTCCGCG	0.657																																						uc011bms.1		NaN																	0					0						c.(487-489)GAG>AAG		proline rich 23A							25.0	30.0	28.0					3																	138724624		692	1591	2283	SO:0001583	missense	729627							g.chr3:138724624C>T		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.487G>A	3.37:g.138724624C>T	ENSP00000372649:p.Glu163Lys						p.E163K	NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN			1	487	-			163						Missense_Mutation	SNP	ENST00000383163.2	37	c.487G>A	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192770	0.38707	.	.	ENSG00000206260	ENST00000383163	.	.	.	2.55	2.55	0.30701	.	2.128390	0.02568	N	0.097505	T	0.66287	0.2774	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.46456	-0.9190	9	0.40728	T	0.16	.	8.7185	0.34425	0.0:1.0:0.0:0.0	.	163	A6NEV1	PR23A_HUMAN	K	163	.	ENSP00000372649:E163K	E	-	1	0	PRR23A	140207314	0.001000	0.12720	0.016000	0.15963	0.021000	0.10359	0.278000	0.18753	1.751000	0.51876	0.491000	0.48974	GAG		0.657	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1		NM_001134659		4	20	0	0	0	0.009096	0	4	20		
CPB1	1360	broad.mit.edu	37	3	148562481	148562481	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:148562481G>C	ENST00000491148.1	+	9	1039	c.705G>C	c.(703-705)aaG>aaC	p.K235N	CPB1_ENST00000282957.4_Missense_Mutation_p.K235N			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	235						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTTGGAGAAAGACTCGCTCCA	0.438																																						uc003ewl.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(703-705)AAG>AAC		pancreatic carboxypeptidase B1 preproprotein							114.0	113.0	113.0					3																	148562481		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148562481G>C	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.705G>C	3.37:g.148562481G>C	ENSP00000417222:p.Lys235Asn						p.K235N	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		8	728	+			235					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.705G>C	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698648	0.68501	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.39592	1.07;1.07;1.07	5.78	3.02	0.34903	Peptidase M14, carboxypeptidase A (2);	0.044249	0.85682	N	0.000000	T	0.71550	0.3353	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75563	-0.3274	10	0.87932	D	0	.	10.3927	0.44181	0.2124:0.0:0.7876:0.0	.	235	P15086	CBPB1_HUMAN	N	235;235;201	ENSP00000417222:K235N;ENSP00000282957:K235N;ENSP00000419427:K201N	ENSP00000282957:K235N	K	+	3	2	CPB1	150045171	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.867000	0.39499	0.369000	0.24510	0.655000	0.94253	AAG		0.438	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1		NM_001871		7	105	0	0	0	0.004482	0	7	105		
WWTR1	25937	broad.mit.edu	37	3	149245664	149245664	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:149245664C>T	ENST00000465804.1	-	6	1120	c.864G>A	c.(862-864)atG>atA	p.M288I	WWTR1_ENST00000467467.1_Missense_Mutation_p.M288I|WWTR1_ENST00000360632.3_Missense_Mutation_p.M288I|RNU6-1098P_ENST00000516772.1_RNA	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	288					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.M288I(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGATGGATCTCATGTCTGGGG	0.463			T	CAMTA1	epitheliod hemangioendothelioma																																	uc003exe.2		NaN		Dom	yes		3	3q23-q24	607392		WW domain containing transcription regulator 1			M					1	Substitution - Missense(1)		breast(1)	breast(3)|skin(1)	4						c.(862-864)ATG>ATA		WW domain containing transcription regulator 1							175.0	182.0	180.0					3																	149245664		2203	4300	6503	SO:0001583	missense	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149245664C>T	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.864G>A	3.37:g.149245664C>T	ENSP00000419465:p.Met288Ile					WWTR1_uc003exf.2_Missense_Mutation_p.M288I|WWTR1_uc011bns.1_Missense_Mutation_p.M288I|WWTR1_uc003exh.2_Missense_Mutation_p.M288I	p.M288I	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		4	880	-			288					D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	c.864G>A	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965223	0.34659	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.41758	0.99;0.99;0.99	5.09	4.2	0.49525	.	0.204155	0.51477	D	0.000090	T	0.23532	0.0569	N	0.11560	0.145	0.33448	D	0.583317	B	0.02656	0.0	B	0.04013	0.001	T	0.20009	-1.0288	10	0.41790	T	0.15	-15.502	10.8908	0.46994	0.0:0.8502:0.0:0.1498	.	288	Q9GZV5	WWTR1_HUMAN	I	288;288;288;146	ENSP00000419465:M288I;ENSP00000353847:M288I;ENSP00000419234:M288I	ENSP00000353847:M288I	M	-	3	0	WWTR1	150728354	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.443000	0.21644	2.530000	0.85305	0.644000	0.83932	ATG		0.463	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1		NM_015472		14	201	0	0	0	0.003163	0	14	201		
MED12L	116931	broad.mit.edu	37	3	150906195	150906195	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:150906195C>T	ENST00000474524.1	+	12	1719	c.1681C>T	c.(1681-1683)Ctt>Ttt	p.L561F	MED12L_ENST00000422248.2_Missense_Mutation_p.L561F|MED12L_ENST00000273432.4_Missense_Mutation_p.L421F|MED12L_ENST00000309237.4_Missense_Mutation_p.L561F|RNA5SP145_ENST00000363124.1_RNA	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	561						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCATCCTCTCTTGCTGGATC	0.373																																						uc003eyp.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1681-1683)CTT>TTT		mediator of RNA polymerase II transcription,							190.0	182.0	185.0					3																	150906195		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150906195C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1681C>T	3.37:g.150906195C>T	ENSP00000417235:p.Leu561Phe					MED12L_uc011bnz.1_Missense_Mutation_p.L421F|MED12L_uc003eyn.2_Missense_Mutation_p.L561F|MED12L_uc003eyo.2_Missense_Mutation_p.L561F	p.L561F	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		12	1719	+			561					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1681C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961334	0.74016	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.63	4.76	0.60689	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.068867	0.64402	N	0.000020	T	0.53045	0.1772	M	0.78916	2.43	0.44555	D	0.997518	D;B;B;D	0.76494	0.997;0.01;0.015;0.999	D;B;B;D	0.80764	0.921;0.032;0.027;0.994	T	0.56768	-0.7924	10	0.87932	D	0	-8.4077	8.9138	0.35570	0.0:0.7727:0.0:0.2273	.	421;561;561;561	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	F	561;561;561;421	ENSP00000403308:L561F;ENSP00000310760:L561F;ENSP00000417235:L561F;ENSP00000273432:L421F	ENSP00000273432:L421F	L	+	1	0	MED12L	152388885	0.955000	0.32602	0.995000	0.50966	0.989000	0.77384	2.061000	0.41403	1.381000	0.46364	0.650000	0.86243	CTT		0.373	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2		NM_053002		5	66	0	0	0	0.001984	0	5	66		
RAP2B	5912	broad.mit.edu	37	3	152880590	152880590	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:152880590C>T	ENST00000323534.2	+	1	562	c.108C>T	c.(106-108)atC>atT	p.I36I	RP11-529G21.2_ENST00000487827.1_RNA	NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	36					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACCCGACCATCGAAGACTTTT	0.627																																						uc003ezr.2		NaN																	0				lung(2)	2						c.(106-108)ATC>ATT		RAP2B, member of RAS oncogene family precursor							97.0	95.0	96.0					3																	152880590		2203	4300	6503	SO:0001819	synonymous_variant	5912				Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chr3:152880590C>T		CCDS3170.1	3q25.2	2014-05-09			ENSG00000181467	ENSG00000181467			9862	protein-coding gene	gene with protein product	"""Ras-related protein RAP-2B"", ""small GTP binding protein"", ""Ras family small GTP binding protein RAP2B"""	179541				2118648	Standard	NM_002886		Approved		uc003ezr.3	P61225	OTTHUMG00000159655	ENST00000323534.2:c.108C>T	3.37:g.152880590C>T							p.I36I	NM_002886	NP_002877	P61225	RAP2B_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	562	+			36			Effector region (Probable).		P17964|Q96EG5|Q9CXG0	Silent	SNP	ENST00000323534.2	37	c.108C>T	CCDS3170.1																																																																																				0.627	RAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356707.1		NM_002886		9	117	0	0	0	0.008291	0	9	117		
PTX3	5806	broad.mit.edu	37	3	157160451	157160451	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:157160451G>A	ENST00000295927.3	+	3	974	c.829G>A	c.(829-831)Gag>Aag	p.E277K	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	277	Pentaxin.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTGGAATTCAGAGGAAGGGCT	0.537																																						uc003fbl.3		NaN																	0				central_nervous_system(1)	1						c.(829-831)GAG>AAG		pentraxin 3 precursor							90.0	90.0	90.0					3																	157160451		2203	4300	6503	SO:0001583	missense	5806				inflammatory response	extracellular region		g.chr3:157160451G>A	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.829G>A	3.37:g.157160451G>A	ENSP00000295927:p.Glu277Lys					VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron	p.E277K	NM_002852	NP_002843	P26022	PTX3_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		3	972	+			277			Pentaxin.		B2R6T6|Q38M82	Missense_Mutation	SNP	ENST00000295927.3	37	c.829G>A	CCDS3180.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270765	0.23221	.	.	ENSG00000163661	ENST00000295927	T	0.58652	0.32	5.86	-0.321	0.12717	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.486069	0.24899	N	0.034702	T	0.29126	0.0724	N	0.16862	0.45	0.09310	N	1	B	0.12013	0.005	B	0.18871	0.023	T	0.13575	-1.0504	10	0.08599	T	0.76	-6.9966	3.2539	0.06824	0.2337:0.109:0.545:0.1123	.	277	P26022	PTX3_HUMAN	K	277	ENSP00000295927:E277K	ENSP00000295927:E277K	E	+	1	0	PTX3	158643145	0.824000	0.29247	0.000000	0.03702	0.981000	0.71138	3.017000	0.49615	-0.124000	0.11724	0.655000	0.94253	GAG		0.537	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1		NM_002852		3	71	0	0	0	0.009096	0	3	71		
SI	6476	broad.mit.edu	37	3	164724636	164724636	+	Silent	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:164724636G>T	ENST00000264382.3	-	37	4436	c.4374C>A	c.(4372-4374)ctC>ctA	p.L1458L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1458	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACCATCCATAGAGATTGTGAA	0.348										HNSCC(35;0.089)																												uc003fei.2		NaN																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4372-4374)CTC>CTA		sucrase-isomaltase	Acarbose(DB00284)						129.0	116.0	121.0					3																	164724636		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164724636G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4374C>A	3.37:g.164724636G>T		HNSCC(35;0.089)					p.L1458L	NM_001041	NP_001032	P14410	SUIS_HUMAN			37	4436	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1458			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.4374C>A	CCDS3196.1																																																																																				0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1		NM_001041		5	58	1	0	0.00116845	0.001168	0.00119841	5	58		
BCHE	590	broad.mit.edu	37	3	165548711	165548711	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:165548711C>G	ENST00000264381.3	-	2	277	c.111G>C	c.(109-111)aaG>aaC	p.K37N	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	37					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CTTTTCCATTCTTTGTTGCAA	0.408																																						uc003fem.3		NaN																	0				ovary(3)|pancreas(1)	4						c.(109-111)AAG>AAC		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						89.0	82.0	84.0					3																	165548711		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548711C>G	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.111G>C	3.37:g.165548711C>G	ENSP00000264381:p.Lys37Asn					BCHE_uc003fen.3_Intron	p.K37N	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	271	-			37					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.111G>C	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	2.184	-0.386829	0.04966	.	.	ENSG00000114200	ENST00000264381	D	0.95307	-3.67	5.81	3.95	0.45737	Carboxylesterase, type B (1);	0.263900	0.42420	D	0.000701	D	0.90528	0.7032	L	0.46819	1.47	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	D	0.84732	0.0746	10	0.38643	T	0.18	.	8.4558	0.32899	0.0:0.7535:0.0:0.2465	.	37	P06276	CHLE_HUMAN	N	37	ENSP00000264381:K37N	ENSP00000264381:K37N	K	-	3	2	BCHE	167031405	0.004000	0.15560	0.970000	0.41538	0.092000	0.18411	0.722000	0.25925	0.737000	0.32582	-0.345000	0.07892	AAG		0.408	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1				3	44	0	0	0	0.000602	0	3	44		
NAALADL2	254827	broad.mit.edu	37	3	174951896	174951896	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:174951896C>T	ENST00000454872.1	+	3	849	c.721C>T	c.(721-723)Cat>Tat	p.H241Y	NAALADL2-AS2_ENST00000424690.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	241						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TCAATGCTTTCATCCTAATGG	0.488																																						uc003fit.2		NaN																	0				pancreas(1)	1						c.(721-723)CAT>TAT		N-acetylated alpha-linked acidic dipeptidase 2							104.0	100.0	101.0					3																	174951896		1989	4166	6155	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174951896C>T		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.721C>T	3.37:g.174951896C>T	ENSP00000404705:p.His241Tyr					NAALADL2_uc003fiu.1_Missense_Mutation_p.H234Y|NAALADL2_uc010hwy.1_Missense_Mutation_p.H63Y	p.H241Y	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	3	808	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	241			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.721C>T	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	0.110	-1.140136	0.01728	.	.	ENSG00000177694	ENST00000454872;ENST00000316366	T	0.39229	1.09	5.57	1.17	0.20885	.	0.469780	0.20154	N	0.098091	T	0.16727	0.0402	N	0.11560	0.145	0.23309	N	0.997939	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.30679	-0.9970	10	0.02654	T	1	-7.8764	7.0172	0.24895	0.0:0.3216:0.0:0.6784	.	224;241	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	Y	241;48	ENSP00000404705:H241Y	ENSP00000314951:H48Y	H	+	1	0	NAALADL2	176434590	1.000000	0.71417	0.991000	0.47740	0.492000	0.33523	1.311000	0.33562	0.312000	0.23038	-0.156000	0.13503	CAT		0.488	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2		NM_207015		22	102	0	0	0	0.00278	0	22	102		
ZMAT3	64393	broad.mit.edu	37	3	178742989	178742989	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:178742989C>A	ENST00000311417.2	-	6	1427	c.686G>T	c.(685-687)cGg>cTg	p.R229L	ZMAT3_ENST00000432729.1_Missense_Mutation_p.R228L	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			AATTCTCTGCCGAGAGCGGGG	0.418																																						uc003fjg.2		NaN																	0				ovary(2)	2						c.(685-687)CGG>CTG		p53 target zinc finger protein isoform 1							60.0	54.0	56.0					3																	178742989		2203	4300	6503	SO:0001583	missense	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178742989C>A	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.686G>T	3.37:g.178742989C>A	ENSP00000311221:p.Arg229Leu					ZMAT3_uc010hxa.2_Missense_Mutation_p.R228L|ZMAT3_uc003fji.2_Missense_Mutation_p.R228L	p.R229L	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		6	945	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		229						Missense_Mutation	SNP	ENST00000311417.2	37	c.686G>T	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166822	0.94768	.	.	ENSG00000172667	ENST00000311417;ENST00000432729	T;T	0.54071	0.59;0.67	5.6	5.6	0.85130	.	0.176314	0.49305	D	0.000144	T	0.59756	0.2217	L	0.32530	0.975	0.80722	D	1	D;D	0.67145	0.996;0.993	P;P	0.59889	0.865;0.737	T	0.52593	-0.8555	10	0.25106	T	0.35	-35.117	19.6182	0.95643	0.0:1.0:0.0:0.0	.	228;229	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	L	229;228	ENSP00000311221:R229L;ENSP00000396506:R228L	ENSP00000311221:R229L	R	-	2	0	ZMAT3	180225683	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.626000	0.88956	0.650000	0.86243	CGG		0.418	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2		NM_152240		4	22	1	0	0.00024832	0.009096	0.000257326	4	22		
PEX5L	51555	broad.mit.edu	37	3	179597763	179597763	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:179597763C>T	ENST00000467460.1	-	5	789	c.459G>A	c.(457-459)caG>caA	p.Q153Q	PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000465751.1_Silent_p.Q129Q|PEX5L_ENST00000476138.1_Silent_p.Q110Q|PEX5L_ENST00000468741.1_5'UTR|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000485199.1_Silent_p.Q118Q|PEX5L_ENST00000263962.8_Silent_p.Q151Q|PEX5L_ENST00000472994.1_Silent_p.Q94Q	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	153					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCTGGCCTCTCTGCTCAGCAT	0.512																																						uc003fki.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(457-459)CAG>CAA		peroxisomal biogenesis factor 5-like							151.0	146.0	147.0					3																	179597763		2203	4300	6503	SO:0001819	synonymous_variant	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179597763C>T	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.459G>A	3.37:g.179597763C>T						PEX5L_uc011bqd.1_Silent_p.Q110Q|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Intron|PEX5L_uc003fkj.1_Silent_p.Q118Q|PEX5L_uc010hxd.1_Silent_p.Q151Q|PEX5L_uc011bqg.1_Silent_p.Q129Q|PEX5L_uc011bqh.1_Silent_p.Q94Q	p.Q153Q	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		5	589	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		153					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	ENST00000467460.1	37	c.459G>A	CCDS3236.1																																																																																				0.512	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1		NM_016559		9	72	0	0	0	0.013537	0	9	72		
B3GNT5	84002	broad.mit.edu	37	3	182987890	182987890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:182987890G>A	ENST00000326505.3	+	2	834	c.304G>A	c.(304-306)Gat>Aat	p.D102N	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.D102N|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.D102N	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	102					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGAAAACTATGATCGACGTTC	0.438																																						uc003flk.2		NaN																	0				ovary(1)	1						c.(304-306)GAT>AAT		UDP-GlcNAc:betaGal							87.0	87.0	87.0					3																	182987890		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182987890G>A	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.304G>A	3.37:g.182987890G>A	ENSP00000316173:p.Asp102Asn					MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.D102N|B3GNT5_uc003flm.2_Missense_Mutation_p.D102N	p.D102N	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	834	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		102			Lumenal (Potential).		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.304G>A	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	G	7.564	0.665387	0.14710	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.40756	1.02;1.02;1.02	5.91	-8.96	0.00761	.	1.535960	0.03668	N	0.243557	T	0.18045	0.0433	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.08597	-1.0714	10	0.23302	T	0.38	.	3.7511	0.08566	0.4306:0.3295:0.1015:0.1384	.	102	Q9BYG0	B3GN5_HUMAN	N	102	ENSP00000316173:D102N;ENSP00000420778:D102N;ENSP00000417868:D102N	ENSP00000316173:D102N	D	+	1	0	B3GNT5	184470584	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.022000	0.12480	-1.202000	0.02655	0.650000	0.86243	GAT		0.438	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1		NM_032047		5	67	0	0	0	0.000602	0	5	67		
B3GNT5	84002	broad.mit.edu	37	3	182988156	182988156	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:182988156G>C	ENST00000326505.3	+	2	1100	c.570G>C	c.(568-570)atG>atC	p.M190I	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.M190I|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.M190I	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	190					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AATTTCTTATGACTGCTGATG	0.353																																						uc003flk.2		NaN																	0				ovary(1)	1						c.(568-570)ATG>ATC		UDP-GlcNAc:betaGal							114.0	114.0	114.0					3																	182988156		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182988156G>C	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.570G>C	3.37:g.182988156G>C	ENSP00000316173:p.Met190Ile					MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.M190I|B3GNT5_uc003flm.2_Missense_Mutation_p.M190I	p.M190I	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	1100	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		190			Lumenal (Potential).		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.570G>C	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611054	0.87258	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.41400	1.0;1.0;1.0	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.63202	-0.6690	10	0.56958	D	0.05	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	190	Q9BYG0	B3GN5_HUMAN	I	190	ENSP00000316173:M190I;ENSP00000420778:M190I;ENSP00000417868:M190I	ENSP00000316173:M190I	M	+	3	0	B3GNT5	184470850	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.876000	0.87215	2.804000	0.96469	0.650000	0.86243	ATG		0.353	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1		NM_032047		12	152	0	0	0	0.013537	0	12	152		
B3GNT5	84002	broad.mit.edu	37	3	182988310	182988310	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:182988310G>A	ENST00000326505.3	+	2	1254	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.E242K|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.E242K	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	242					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGTGTCCTATGAAATGTACCA	0.463																																						uc003flk.2		NaN																	0				ovary(1)	1						c.(724-726)GAA>AAA		UDP-GlcNAc:betaGal							91.0	83.0	86.0					3																	182988310		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182988310G>A	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.724G>A	3.37:g.182988310G>A	ENSP00000316173:p.Glu242Lys					MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.E242K|B3GNT5_uc003flm.2_Missense_Mutation_p.E242K	p.E242K	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	1254	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		242			Lumenal (Potential).		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.724G>A	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200036	0.79015	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.42513	0.97;0.97;0.97	5.91	5.91	0.95273	.	0.166936	0.51477	D	0.000082	T	0.45397	0.1340	L	0.53249	1.67	0.80722	D	1	B	0.32653	0.379	B	0.35182	0.197	T	0.23833	-1.0177	10	0.33940	T	0.23	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	242	Q9BYG0	B3GN5_HUMAN	K	242	ENSP00000316173:E242K;ENSP00000420778:E242K;ENSP00000417868:E242K	ENSP00000316173:E242K	E	+	1	0	B3GNT5	184471004	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.576000	0.60915	2.804000	0.96469	0.650000	0.86243	GAA		0.463	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1		NM_032047		5	88	0	0	0	0.001168	0	5	88		
B3GNT5	84002	broad.mit.edu	37	3	182988588	182988588	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:182988588G>C	ENST00000326505.3	+	2	1532	c.1002G>C	c.(1000-1002)aaG>aaC	p.K334N	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.K334N|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.K334N	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	334					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ACCTTTGGAAGAATGCTACAG	0.343																																						uc003flk.2		NaN																	0				ovary(1)	1						c.(1000-1002)AAG>AAC		UDP-GlcNAc:betaGal							54.0	53.0	53.0					3																	182988588		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182988588G>C	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.1002G>C	3.37:g.182988588G>C	ENSP00000316173:p.Lys334Asn					MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.K334N|B3GNT5_uc003flm.2_Missense_Mutation_p.K334N	p.K334N	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	1532	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		334			Lumenal (Potential).		D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.1002G>C	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127257	0.20959	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.39592	1.07;1.07;1.07	5.82	3.97	0.46021	.	0.767437	0.12651	N	0.450444	T	0.34308	0.0893	L	0.48642	1.525	0.28347	N	0.921097	B	0.28128	0.201	B	0.21360	0.034	T	0.17319	-1.0373	10	0.21014	T	0.42	.	11.3489	0.49577	0.0664:0.0:0.8068:0.1268	.	334	Q9BYG0	B3GN5_HUMAN	N	334	ENSP00000316173:K334N;ENSP00000420778:K334N;ENSP00000417868:K334N	ENSP00000316173:K334N	K	+	3	2	B3GNT5	184471282	1.000000	0.71417	0.817000	0.32601	0.812000	0.45895	3.755000	0.55197	0.747000	0.32809	0.585000	0.79938	AAG		0.343	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1		NM_032047		4	33	0	0	0	0.000602	0	4	33		
AHSG	197	broad.mit.edu	37	3	186331033	186331033	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:186331033C>T	ENST00000273784.5	+	1	179	c.103C>T	c.(103-105)Cca>Tca	p.P35S	AHSG_ENST00000411641.2_Missense_Mutation_p.P35S	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	35	Cystatin fetuin-A-type 1. {ECO:0000255|PROSITE-ProRule:PRU00861}.				acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CTGCGATGATCCAGAAACTGA	0.502																																						uc003fqk.3		NaN																	0					0						c.(103-105)CCA>TCA		alpha-2-HS-glycoprotein							76.0	72.0	74.0					3																	186331033		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186331033C>T	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.103C>T	3.37:g.186331033C>T	ENSP00000273784:p.Pro35Ser					AHSG_uc003fqj.2_Missense_Mutation_p.P35S|AHSG_uc003fql.3_Missense_Mutation_p.P35S|AHSG_uc003fqm.3_Missense_Mutation_p.P35S|AHSG_uc010hyp.2_Missense_Mutation_p.P35S	p.P35S	NM_001622	NP_001613	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	1	184	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		35			Cystatin fetuin-A-type 1.		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.103C>T		.	.	.	.	.	.	.	.	.	.	c	18.04	3.534114	0.64972	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.40225	1.04;1.04	5.73	5.73	0.89815	Proteinase inhibitor I25C, fetuin, conserved site (1);Proteinase inhibitor I25, cystatin (1);	0.085303	0.51477	D	0.000087	T	0.52484	0.1737	L	0.52266	1.64	0.54753	D	0.999989	P;P;P;P	0.51057	0.941;0.764;0.858;0.804	P;P;P;B	0.53861	0.736;0.597;0.597;0.4	T	0.51450	-0.8704	10	0.72032	D	0.01	-3.9886	15.7793	0.78246	0.0:1.0:0.0:0.0	.	101;35;35;35	F5H0Q5;P02765;C9JV77;B7Z556	.;FETUA_HUMAN;.;.	S	35;101;35	ENSP00000393887:P35S;ENSP00000273784:P35S	ENSP00000273784:P35S	P	+	1	0	AHSG	187813727	0.982000	0.34865	1.000000	0.80357	0.383000	0.30230	1.139000	0.31504	2.882000	0.98803	0.655000	0.94253	CCA		0.502	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1		NM_001622		7	53	0	0	0	0.001984	0	7	53		
UVSSA	57654	broad.mit.edu	37	4	1347046	1347046	+	Missense_Mutation	SNP	C	C	T	rs371967224		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:1347046C>T	ENST00000389851.4	+	5	1226	c.779C>T	c.(778-780)tCt>tTt	p.S260F	UVSSA_ENST00000507531.1_Missense_Mutation_p.S260F|UVSSA_ENST00000511216.1_Missense_Mutation_p.S260F	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	260					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CTGCCTGCCTCTGCAGGCCAC	0.706																																						uc003gde.3		NaN																	0					0						c.(778-780)TCT>TTT		hypothetical protein LOC57654		C	PHE/SER	0,4384		0,0,2192	15.0	18.0	17.0		779	3.2	0.0	4		17	1,8561		0,1,4280	no	missense	KIAA1530	NM_020894.2	155	0,1,6472	TT,TC,CC		0.0117,0.0,0.0077	benign	260/710	1347046	1,12945	2192	4281	6473	SO:0001583	missense	57654							g.chr4:1347046C>T	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.779C>T	4.37:g.1347046C>T	ENSP00000374501:p.Ser260Phe						p.S260F	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0138)		5	1226	+			260					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.779C>T	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349336	0.24426	0.0	1.17E-4	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.32988	1.43;1.43;1.43	4.94	3.18	0.36537	.	0.772500	0.12730	N	0.443925	T	0.20251	0.0487	L	0.44542	1.39	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.31530	-0.9940	10	0.20046	T	0.44	.	1.3793	0.02227	0.1439:0.424:0.1912:0.2408	.	260	Q2YD98	K1530_HUMAN	F	260	ENSP00000425130:S260F;ENSP00000374501:S260F;ENSP00000421741:S260F	ENSP00000374501:S260F	S	+	2	0	KIAA1530	1337046	0.000000	0.05858	0.027000	0.17364	0.287000	0.27160	0.059000	0.14322	0.439000	0.26476	0.591000	0.81541	TCT		0.706	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1		NM_020894		3	17	0	0	0	0.004672	0	3	17		
WHSC1	7468	broad.mit.edu	37	4	1957023	1957023	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:1957023A>C	ENST00000382895.3	+	15	2905	c.2474A>C	c.(2473-2475)cAc>cCc	p.H825P	WHSC1_ENST00000508803.1_Missense_Mutation_p.H825P|WHSC1_ENST00000382892.2_Missense_Mutation_p.H825P|WHSC1_ENST00000382891.5_Missense_Mutation_p.H825P|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.H173P	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	825					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGAAGCGACACCACGCCCAC	0.612			T	IGH@	MM																																	uc003gdz.3		NaN		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(2473-2475)CAC>CCC		Wolf-Hirschhorn syndrome candidate 1 protein							93.0	77.0	82.0					4																	1957023		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1957023A>C	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2474A>C	4.37:g.1957023A>C	ENSP00000372351:p.His825Pro					WHSC1_uc003geb.3_Missense_Mutation_p.H825P|WHSC1_uc003gec.3_Missense_Mutation_p.H825P|WHSC1_uc003ged.3_Missense_Mutation_p.H825P|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.H44P|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.H173P	p.H825P	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	13	2650	+		all_epithelial(65;1.34e-05)	825					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.2474A>C	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840424	0.91197	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.95949	-3.86;-3.86;-3.86;-3.86;-3.86	5.77	5.77	0.91146	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000019	D	0.97275	0.9109	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.964;0.999	P;D	0.83275	0.737;0.996	D	0.97041	0.9757	10	0.40728	T	0.16	.	16.089	0.81080	1.0:0.0:0.0:0.0	.	173;825	A2A2T2;O96028	.;NSD2_HUMAN	P	825;825;825;825;173	ENSP00000423972:H825P;ENSP00000372347:H825P;ENSP00000372348:H825P;ENSP00000372351:H825P;ENSP00000372344:H173P	ENSP00000372344:H173P	H	+	2	0	WHSC1	1926821	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	6.979000	0.76154	2.205000	0.71048	0.533000	0.62120	CAC		0.612	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2		NM_133330		10	40	0	0	0	0.013537	0	10	40		
SEL1L3	23231	broad.mit.edu	37	4	25849234	25849234	+	Missense_Mutation	SNP	G	G	A	rs376303100		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:25849234G>A	ENST00000399878.3	-	2	537	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000502949.1_5'UTR|SEL1L3_ENST00000264868.5_Missense_Mutation_p.H104Y	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	139						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTGCTGGTGTGAAGATGTTTC	0.388																																						uc003gru.3		NaN																	0					0						c.(415-417)CAC>TAC		sel-1 suppressor of lin-12-like 3		G	TYR/HIS	0,3794		0,0,1897	86.0	79.0	81.0		415	5.4	1.0	4		81	2,8272		0,2,4135	no	missense	SEL1L3	NM_015187.3	83	0,2,6032	AA,AG,GG		0.0242,0.0,0.0166	benign	139/1133	25849234	2,12066	1897	4137	6034	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25849234G>A	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.415C>T	4.37:g.25849234G>A	ENSP00000382767:p.His139Tyr						p.H139Y	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN			2	567	-			139					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.415C>T	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801047	0.31869	0.0	2.42E-4	ENSG00000091490	ENST00000399878;ENST00000264868	T;T	0.12039	2.72;2.74	5.4	5.4	0.78164	.	0.422304	0.26609	N	0.023421	T	0.09905	0.0243	L	0.28274	0.84	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.14172	-1.0482	10	0.34782	T	0.22	-22.5409	9.5118	0.39082	0.162:0.0:0.838:0.0	.	139	Q68CR1	SE1L3_HUMAN	Y	139;104	ENSP00000382767:H139Y;ENSP00000264868:H104Y	ENSP00000264868:H104Y	H	-	1	0	SEL1L3	25458332	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.500000	0.53318	2.529000	0.85273	0.555000	0.69702	CAC		0.388	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1		NM_015187		5	41	0	0	0	0.001168	0	5	41		
ARAP2	116984	broad.mit.edu	37	4	36212143	36212143	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:36212143C>G	ENST00000303965.4	-	6	1845	c.1356G>C	c.(1354-1356)ccG>ccC	p.P452P		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	452					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTGAGCTTAACGGATAACTGT	0.383																																						uc003gsq.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1354-1356)CCG>CCC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							144.0	143.0	143.0					4																	36212143		2203	4300	6503	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36212143C>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1356G>C	4.37:g.36212143C>G						ARAP2_uc003gsr.1_Silent_p.P452P	p.P452P	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			6	1694	-			452					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.1356G>C	CCDS3441.1																																																																																				0.383	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2		NM_015230		7	67	0	0	0	0.006214	0	7	67		
TBC1D1	23216	broad.mit.edu	37	4	38037247	38037247	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:38037247G>C	ENST00000261439.4	+	8	1696	c.1341G>C	c.(1339-1341)ttG>ttC	p.L447F	TBC1D1_ENST00000508802.1_Missense_Mutation_p.L447F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	447					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AGAATGAATTGATTATTTCTT	0.333																																						uc003gtb.2		NaN																	0				ovary(1)	1						c.(1339-1341)TTG>TTC		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							103.0	104.0	104.0					4																	38037247		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38037247G>C	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.1341G>C	4.37:g.38037247G>C	ENSP00000261439:p.Leu447Phe					TBC1D1_uc011byd.1_Missense_Mutation_p.L447F|TBC1D1_uc010ifd.2_Missense_Mutation_p.L194F|TBC1D1_uc011byf.1_Missense_Mutation_p.L318F	p.L447F	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			8	1684	+			447					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.1341G>C	CCDS33972.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.01|15.01|15.01	2.707713|2.707713|2.707713	0.48412|0.48412|0.48412	.|.|.	.|.|.	ENSG00000065882|ENSG00000065882|ENSG00000065882	ENST00000510573|ENST00000508802;ENST00000261439;ENST00000446803|ENST00000513936	.|T;T;T|.	.|0.26518|.	.|3.08;3.51;1.73|.	5.8|5.8|5.8	3.61|3.61|3.61	0.41365|0.41365|0.41365	.|.|.	.|0.000000|.	.|0.45606|.	.|D|.	.|0.000341|.	T|T|.	0.46151|0.46151|.	0.1378|0.1378|.	L|L|L	0.43598|0.43598|0.43598	1.365|1.365|1.365	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;P;D|.	.|0.89917|.	.|1.0;1.0;0.856;1.0|.	.|D;D;P;D|.	.|0.91635|.	.|0.999;0.999;0.483;0.999|.	T|T|.	0.36672|0.36672|.	-0.9738|-0.9738|.	5|10|.	.|0.34782|.	.|T|.	.|0.22|.	-17.2051|-17.2051|-17.2051	3.8773|3.8773|3.8773	0.09062|0.09062|0.09062	0.297:0.0:0.5394:0.1635|0.297:0.0:0.5394:0.1635|0.297:0.0:0.5394:0.1635	.|.|.	.|447;447;179;447|.	.|B9A6J6;E9PGH8;Q6PJJ8;Q86TI0|.	.|.;.;.;TBCD1_HUMAN|.	H|F|S	95|447;447;318|44	.|ENSP00000423651:L447F;ENSP00000261439:L447F;ENSP00000396877:L318F|.	.|ENSP00000261439:L447F|.	D|L|X	+|+|+	1|3|2	0|2|2	TBC1D1|TBC1D1|TBC1D1	37713642|37713642|37713642	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	1.648000|1.648000|1.648000	0.37271|0.37271|0.37271	1.111000|1.111000|1.111000	0.41721|0.41721|0.41721	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAT|TTG|TGA		0.333	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2		NM_015173		8	36	0	0	0	0.006214	0	8	36		
WDR19	57728	broad.mit.edu	37	4	39254832	39254832	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:39254832G>C	ENST00000399820.3	+	25	2950	c.2796G>C	c.(2794-2796)ctG>ctC	p.L932L	WDR19_ENST00000288634.7_Silent_p.L772L	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	932					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						GCATCTATCTGGATCACCTCA	0.348																																						uc003gtv.2		NaN																	0				large_intestine(1)	1						c.(2794-2796)CTG>CTC		WD repeat domain 19							84.0	82.0	83.0					4																	39254832		1838	4094	5932	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39254832G>C	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2796G>C	4.37:g.39254832G>C						WDR19_uc011byi.1_Silent_p.L772L|WDR19_uc003gtw.1_Silent_p.L529L	p.L932L	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			25	2950	+			932					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.2796G>C	CCDS47042.1																																																																																				0.348	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1				8	56	0	0	0	0.006214	0	8	56		
GABRA2	2555	broad.mit.edu	37	4	46390673	46390673	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:46390673G>A	ENST00000510861.1	-	2	224	c.51C>T	c.(49-51)ttC>ttT	p.F17F	GABRA2_ENST00000515082.1_Silent_p.F17F|GABRA2_ENST00000507460.1_Silent_p.F17F|GABRA2_ENST00000381620.4_Silent_p.F17F|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000507069.1_Silent_p.F17F|RP11-436F23.1_ENST00000502455.1_RNA|GABRA2_ENST00000356504.1_Silent_p.F17F|GABRA2_ENST00000514090.1_Silent_p.F17F			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	17					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCCACACCAAGAAAACAAAAA	0.363																																						uc003gxc.3		NaN																	0				ovary(2)|skin(2)	4						c.(49-51)TTC>TTT		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						150.0	150.0	150.0					4																	46390673		2203	4300	6503	SO:0001819	synonymous_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46390673G>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.51C>T	4.37:g.46390673G>A						GABRA2_uc010igc.2_Silent_p.F17F|GABRA2_uc011bzc.1_5'UTR|GABRA2_uc003gxe.2_Silent_p.F17F|GABRA2_uc010igd.1_Silent_p.F17F	p.F17F	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			1	724	-			17					A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	37	c.51C>T	CCDS3471.1																																																																																				0.363	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2				9	120	0	0	0	0.013537	0	9	120		
GABRA4	2557	broad.mit.edu	37	4	46973161	46973161	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:46973161C>T	ENST00000264318.3	-	7	1795	c.813G>A	c.(811-813)gtG>gtA	p.V271V		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	271					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GAGAAAGAATCACTGTCATAA	0.363																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(811-813)GTG>GTA		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						78.0	75.0	76.0					4																	46973161		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46973161C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.813G>A	4.37:g.46973161C>T							p.V271V	NM_000809	NP_000800	P48169	GBRA4_HUMAN			7	952	-			271			Helical; (Probable).		Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.813G>A	CCDS3473.1																																																																																				0.363	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1				9	32	0	0	0	0.004482	0	9	32		
EPHA5	2044	broad.mit.edu	37	4	66280023	66280023	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:66280023C>T	ENST00000273854.3	-	7	2266	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	EPHA5_ENST00000511294.1_Missense_Mutation_p.E556K|EPHA5_ENST00000432638.2_Missense_Mutation_p.E392K|EPHA5_ENST00000354839.4_Missense_Mutation_p.E556K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	556	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTTTCAAACTCAAATCTTCGA	0.438										TSP Lung(17;0.13)																												uc003hcy.2		NaN																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1666-1668)GAG>AAG		ephrin receptor EphA5 isoform a precursor							149.0	127.0	134.0					4																	66280023		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66280023C>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1666G>A	4.37:g.66280023C>T	ENSP00000273854:p.Glu556Lys	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.E487K|EPHA5_uc003hcz.2_Missense_Mutation_p.E556K|EPHA5_uc011cah.1_Missense_Mutation_p.E556K|EPHA5_uc011cai.1_Missense_Mutation_p.E556K|EPHA5_uc003hda.2_Missense_Mutation_p.E556K	p.E556K	NM_004439	NP_004430	P54756	EPHA5_HUMAN			7	1859	-			556			Extracellular (Potential).|Fibronectin type-III 2.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1666G>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093108	0.94149	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;D;T;T	0.85088	0.55;-1.94;0.55;0.55	6.17	6.17	0.99709	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	D	0.93416	0.7900	M	0.82630	2.6	0.54753	D	0.999986	P;P;P;D	0.76494	0.897;0.882;0.937;0.999	P;B;P;D	0.79784	0.643;0.306;0.805;0.993	D	0.92876	0.6319	10	0.66056	D	0.02	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	556;556;556;556	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	K	556;392;556;556	ENSP00000273854:E556K;ENSP00000389208:E392K;ENSP00000346899:E556K;ENSP00000427638:E556K	ENSP00000273854:E556K	E	-	1	0	EPHA5	65962618	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.900000	0.69853	2.941000	0.99782	0.655000	0.94253	GAG		0.438	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2		NM_004439		9	74	0	0	0	0.003163	0	9	74		
YTHDC1	91746	broad.mit.edu	37	4	69188522	69188522	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:69188522G>A	ENST00000344157.4	-	11	1881	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.Q516*|YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.Q498*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	516	Arg-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						GATCGGGGCTGAGAATGCATT	0.463																																						uc003hdx.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1546-1548)CAG>TAG		splicing factor YT521-B isoform 1							112.0	108.0	109.0					4																	69188522		2203	4300	6503	SO:0001587	stop_gained	91746							g.chr4:69188522G>A	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.1546C>T	4.37:g.69188522G>A	ENSP00000339245:p.Gln516*					YTHDC1_uc003hdy.2_Nonsense_Mutation_p.Q498*	p.Q516*	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN			11	1899	-			516			Arg-rich.		Q4W5Q3|Q7Z622|Q8TF35	Nonsense_Mutation	SNP	ENST00000344157.4	37	c.1546C>T	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	G	38	7.032497	0.98017	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	.	.	.	5.92	5.92	0.95590	.	0.105121	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	20.327	0.98704	0.0:0.0:1.0:0.0	.	.	.	.	X	516;498	.	ENSP00000339245:Q516X	Q	-	1	0	YTHDC1	68871117	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.566000	0.73978	2.794000	0.96219	0.650000	0.86243	CAG		0.463	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1		NM_133370		12	69	0	0	0	0.010729	0	12	69		
UGT2B27P	54569	broad.mit.edu	37	4	69874575	69874575	+	IGR	SNP	G	G	T	rs201185265		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:69874575G>T								UGT2A3 (57066 upstream) : UGT2B7 (42618 downstream)																							TTCTACTCACGAAGGATCATT	0.368																																						uc011cao.1		NaN																	0				skin(3)|ovary(2)	5						c.(1195-1197)TCA>TAA		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							124.0	94.0	103.0					4																	69874575		692	1589	2281	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69874575G>T																													4.37:g.69874575G>T						UGT2B10_uc011can.1_Nonsense_Mutation_p.S315*	p.S399*			P36537	UDB10_HUMAN			8	1332	-			436						Nonsense_Mutation	SNP		37	c.1196C>A																																																																																				0	0.368										45	105	1	0	5.82388e-19	0.01441	6.43523e-19	45	105		
MUC7	4589	broad.mit.edu	37	4	71339777	71339777	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:71339777G>A	ENST00000304887.5	+	2	229	c.39G>A	c.(37-39)ctG>ctA	p.L13L	MUC7_ENST00000413702.1_Silent_p.L13L|MUC7_ENST00000456088.1_Silent_p.L13L|MUC7_ENST00000514512.1_Intron	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	13					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCTGTGCACTGAGTGCTTGCT	0.373																																						uc011cat.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(37-39)CTG>CTA		mucin 7, secreted precursor							134.0	130.0	132.0					4																	71339777		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71339777G>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.39G>A	4.37:g.71339777G>A						MUC7_uc011cau.1_Silent_p.L13L|MUC7_uc003hfj.2_Silent_p.L13L	p.L13L	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		3	327	+			13					Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.39G>A	CCDS3541.1																																																																																				0.373	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2		NM_152291		9	68	0	0	0	0.010729	0	9	68		
MUC7	4589	broad.mit.edu	37	4	71347324	71347324	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:71347324C>T	ENST00000304887.5	+	3	1053	c.863C>T	c.(862-864)tCt>tTt	p.S288F	MUC7_ENST00000413702.1_Missense_Mutation_p.S288F|MUC7_ENST00000456088.1_Missense_Mutation_p.S288F	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	288	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCCACACCTTCTGCAACTACA	0.577																																						uc011cat.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(862-864)TCT>TTT		mucin 7, secreted precursor							389.0	354.0	366.0					4																	71347324		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347324C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.863C>T	4.37:g.71347324C>T	ENSP00000302021:p.Ser288Phe					MUC7_uc011cau.1_Missense_Mutation_p.S288F|MUC7_uc003hfj.2_Missense_Mutation_p.S288F|uc011cav.1_RNA	p.S288F	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	1151	+			288			6.|Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.863C>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	8.764	0.924295	0.18056	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.53206	0.63;0.63;0.63	1.54	0.66	0.17868	.	.	.	.	.	T	0.42832	0.1220	N	0.19112	0.55	0.09310	N	1	D	0.58268	0.982	P	0.59703	0.862	T	0.25328	-1.0135	8	.	.	.	.	5.9133	0.19041	0.0:0.8073:0.0:0.1927	.	288	Q8TAX7	MUC7_HUMAN	F	288	ENSP00000407422:S288F;ENSP00000400585:S288F;ENSP00000302021:S288F	.	S	+	2	0	MUC7	71381913	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.316000	0.33620	0.192000	0.20272	-0.450000	0.05554	TCT		0.577	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2		NM_152291		30	232	0	0	0	0.004878	0	30	232		
GC	2638	broad.mit.edu	37	4	72623791	72623791	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:72623791C>T	ENST00000273951.8	-	7	1142	c.799G>A	c.(799-801)Gag>Aag	p.E267K	GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.E286K|GC_ENST00000513476.1_Missense_Mutation_p.E267K|RNA5SP163_ENST00000410304.1_RNA	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	267	Albumin 2. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	GAGGCAGACTCACAGCATTTG	0.433																																						uc003hge.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(799-801)GAG>AAG		vitamin D-binding protein precursor	Cholecalciferol(DB00169)						124.0	113.0	117.0					4																	72623791		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72623791C>T	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.799G>A	4.37:g.72623791C>T	ENSP00000273951:p.Glu267Lys					GC_uc003hgd.2_Missense_Mutation_p.E145K|GC_uc010iie.2_Missense_Mutation_p.E267K|GC_uc010iif.2_Missense_Mutation_p.E286K	p.E267K	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		7	952	-		all_hematologic(202;0.107)	267			Albumin 2.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.799G>A	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.313500	0.23908	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	D;D;D	0.86366	-2.11;-2.11;-2.11	5.68	3.93	0.45458	.	0.716860	0.14075	N	0.343108	D	0.83156	0.5193	L	0.57536	1.79	0.26916	N	0.966787	B;B	0.20780	0.048;0.008	B;B	0.23275	0.045;0.013	T	0.71045	-0.4706	10	0.32370	T	0.25	.	7.7549	0.28919	0.0:0.7103:0.1451:0.1446	.	286;267	D6RAK8;D6RF35	.;.	K	267;286;267	ENSP00000273951:E267K;ENSP00000421725:E286K;ENSP00000426683:E267K	ENSP00000273951:E267K	E	-	1	0	GC	72842655	0.500000	0.26091	0.966000	0.40874	0.385000	0.30292	0.274000	0.18680	0.715000	0.32103	-0.211000	0.12701	GAG		0.433	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2				13	77	0	0	0	0.013537	0	13	77		
CDKL2	8999	broad.mit.edu	37	4	76523333	76523333	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:76523333T>A	ENST00000429927.2	-	8	1651	c.948A>T	c.(946-948)aaA>aaT	p.K316N	CDKL2_ENST00000307465.4_Missense_Mutation_p.K316N	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	316					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TGTTTTGGGATTTTTTAGATA	0.274																																						uc003hiq.2		NaN																	0				ovary(2)|stomach(2)|breast(2)|skin(1)	7						c.(946-948)AAA>AAT		cyclin-dependent kinase-like 2							38.0	40.0	40.0					4																	76523333		2199	4275	6474	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76523333T>A	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.948A>T	4.37:g.76523333T>A	ENSP00000412365:p.Lys316Asn					CDKL2_uc011cbp.1_Missense_Mutation_p.K316N|CDKL2_uc010iix.1_RNA	p.K316N	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		8	1473	-			316					B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.948A>T	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.594962	0.66219	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.72282	-0.6;-0.64	4.16	0.395	0.16304	Protein kinase-like domain (1);	.	.	.	.	T	0.63510	0.2517	L	0.32530	0.975	0.25048	N	0.991151	D;P	0.61080	0.989;0.902	P;P	0.50314	0.637;0.548	T	0.54689	-0.8256	9	0.54805	T	0.06	-17.2955	6.8464	0.23990	0.0:0.3156:0.0:0.6844	.	316;316	B4DH08;Q92772	.;CDKL2_HUMAN	N	316	ENSP00000412365:K316N;ENSP00000306340:K316N	ENSP00000306340:K316N	K	-	3	2	CDKL2	76742357	0.961000	0.32948	0.906000	0.35671	0.993000	0.82548	0.518000	0.22847	-0.008000	0.14320	0.450000	0.29827	AAA		0.274	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2		NM_003948		4	38	0	0	0	0.00308	0	4	38		
G3BP2	9908	broad.mit.edu	37	4	76572312	76572312	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:76572312C>G	ENST00000359707.4	-	10	1743	c.958G>C	c.(958-960)Gac>Cac	p.D320H	G3BP2_ENST00000395719.3_Missense_Mutation_p.D320H|G3BP2_ENST00000357854.3_Missense_Mutation_p.D287H	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	320					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTACGGTTGTCAGAGTCATTC	0.343																																						uc003hir.2		NaN																	0				breast(2)|central_nervous_system(1)	3						c.(958-960)GAC>CAC		Ras-GTPase activating protein SH3 domain-binding							106.0	106.0	106.0					4																	76572312		2203	4299	6502	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76572312C>G	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.958G>C	4.37:g.76572312C>G	ENSP00000352738:p.Asp320His					G3BP2_uc003his.2_Missense_Mutation_p.D320H|G3BP2_uc003hit.2_Missense_Mutation_p.D287H	p.D320H	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		10	1123	-			320					A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.958G>C	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034088	0.93575	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	T;T;T	0.78246	-1.15;-1.15;-1.16	6.04	6.04	0.98038	.	0.041017	0.85682	D	0.000000	D	0.84469	0.5479	L	0.46157	1.445	0.80722	D	1	P;D	0.64830	0.921;0.994	P;P	0.61201	0.571;0.885	D	0.83435	0.0040	10	0.52906	T	0.07	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	287;320	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	H	320;320;287	ENSP00000379069:D320H;ENSP00000352738:D320H;ENSP00000350518:D287H	ENSP00000350518:D287H	D	-	1	0	G3BP2	76791336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.873000	0.98535	0.561000	0.74099	GAC		0.343	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2		NM_012297		12	105	0	0	0	0.004007	0	12	105		
SHROOM3	57619	broad.mit.edu	37	4	77691979	77691979	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:77691979C>T	ENST00000296043.6	+	10	6503	c.5550C>T	c.(5548-5550)tcC>tcT	p.S1850S	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1850	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				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)			TGCTGCTCTCCCTCTCGGGGC	0.522																																						uc011cbx.1		NaN																	0				skin(2)|ovary(1)	3						c.(5548-5550)TCC>TCT		shroom family member 3 protein							145.0	145.0	145.0					4																	77691979		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:77691979C>T	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.5550C>T	4.37:g.77691979C>T						SHROOM3_uc003hkg.2_Silent_p.S1628S	p.S1850S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		10	6503	+			1850			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.5550C>T	CCDS3579.2																																																																																				0.522	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2		NM_020859		24	103	0	0	0	0.004656	0	24	103		
WDFY3	23001	broad.mit.edu	37	4	85638082	85638082	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:85638082G>C	ENST00000295888.4	-	49	8249	c.7842C>G	c.(7840-7842)atC>atG	p.I2614M	WDFY3_ENST00000322366.6_Missense_Mutation_p.I2597M	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2614	Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAACTTCCTTGATATCTTCAT	0.368																																						uc003hpd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(7840-7842)ATC>ATG		WD repeat and FYVE domain containing 3 isoform							133.0	138.0	136.0					4																	85638082		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85638082G>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7842C>G	4.37:g.85638082G>C	ENSP00000295888:p.Ile2614Met					WDFY3_uc003hpe.1_Missense_Mutation_p.I225M	p.I2614M	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	49	8250	-		Hepatocellular(203;0.114)	2614					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.7842C>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929009	0.52759	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.73575	-0.75;-0.76;-0.64	5.08	2.35	0.29111	PH-BEACH domain (1);	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.78344	-0.2240	10	0.72032	D	0.01	.	4.9109	0.13821	0.2126:0.0:0.5356:0.2519	.	2614	Q8IZQ1	WDFY3_HUMAN	M	2597;2614;217	ENSP00000318466:I2597M;ENSP00000295888:I2614M;ENSP00000424987:I217M	ENSP00000295888:I2614M	I	-	3	3	WDFY3	85857106	0.995000	0.38212	0.999000	0.59377	0.978000	0.69477	0.305000	0.19254	0.232000	0.21100	0.557000	0.71058	ATC		0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991		27	117	0	0	0	0.004289	0	27	117		
MTTP	4547	broad.mit.edu	37	4	100530103	100530103	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:100530103C>G	ENST00000265517.5	+	12	1941	c.1738C>G	c.(1738-1740)Caa>Gaa	p.Q580E	MTTP_ENST00000511045.1_Missense_Mutation_p.Q607E|MTTP_ENST00000457717.1_Missense_Mutation_p.Q580E|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	580	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CGCCATTGTTCAAGACATCCT	0.403																																						uc003hvc.3		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1738-1740)CAA>GAA		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						134.0	129.0	131.0					4																	100530103		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100530103C>G		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1738C>G	4.37:g.100530103C>G	ENSP00000265517:p.Gln580Glu					MTTP_uc011cej.1_Missense_Mutation_p.Q607E	p.Q580E	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	13	1994	+			580			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.1738C>G	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443819	0.43429	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.67865	-0.29;-0.29;-0.29	5.0	4.15	0.48705	Lipid transport protein, N-terminal (2);Vitellinogen, superhelical (2);	0.165052	0.56097	N	0.000039	T	0.66839	0.2830	M	0.71581	2.175	0.51012	D	0.999909	B;B	0.32918	0.39;0.001	B;B	0.34452	0.183;0.004	T	0.66795	-0.5833	10	0.37606	T	0.19	-28.3572	15.6762	0.77326	0.0:0.8624:0.1376:0.0	.	607;580	E9PBP6;P55157	.;MTP_HUMAN	E	607;580;580	ENSP00000427679:Q607E;ENSP00000400821:Q580E;ENSP00000265517:Q580E	ENSP00000265517:Q580E	Q	+	1	0	MTTP	100749126	1.000000	0.71417	0.781000	0.31783	0.846000	0.48090	4.402000	0.59722	1.210000	0.43336	-0.176000	0.13171	CAA		0.403	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3				20	100	0	0	0	0.003954	0	20	100		
CASP6	839	broad.mit.edu	37	4	110612078	110612078	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:110612078C>T	ENST00000265164.2	-	6	648	c.571G>A	c.(571-573)Gag>Aag	p.E191K	CASP6_ENST00000510324.1_5'UTR|CASP6_ENST00000352981.3_Missense_Mutation_p.E102K|AC004067.5_ENST00000608733.1_RNA	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	191					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		GCATCCACCTCAGTTATGTTG	0.468																																						uc003hzn.1		NaN																	0				ovary(1)|breast(1)	2						c.(571-573)GAG>AAG		caspase 6 isoform alpha preproprotein							214.0	186.0	195.0					4																	110612078		2203	4300	6503	SO:0001583	missense	839				cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding	g.chr4:110612078C>T	U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"""Caspases"""	1507	protein-coding gene	gene with protein product		601532	"""caspase 6, apoptosis-related cysteine protease"""			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.571G>A	4.37:g.110612078C>T	ENSP00000265164:p.Glu191Lys					CASP6_uc003hzo.1_Missense_Mutation_p.E102K	p.E191K	NM_001226	NP_001217	P55212	CASP6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000171)	6	649	-		Hepatocellular(203;0.217)	191					Q9BQE7	Missense_Mutation	SNP	ENST00000265164.2	37	c.571G>A	CCDS3684.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849847	0.51270	.	.	ENSG00000138794	ENST00000352981;ENST00000265164	T;T	0.21543	2.0;2.0	5.72	3.01	0.34805	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.530562	0.21672	N	0.070846	T	0.32224	0.0822	M	0.78344	2.41	0.80722	D	1	B;B	0.27765	0.156;0.188	B;B	0.32928	0.096;0.155	T	0.20472	-1.0274	10	0.49607	T	0.09	.	17.6363	0.88123	0.0:0.7014:0.2986:0.0	.	102;191	P55212-2;P55212	.;CASP6_HUMAN	K	102;191	ENSP00000285333:E102K;ENSP00000265164:E191K	ENSP00000265164:E191K	E	-	1	0	CASP6	110831527	0.991000	0.36638	0.368000	0.25939	0.356000	0.29392	2.790000	0.47821	0.323000	0.23307	0.650000	0.86243	GAG		0.468	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254866.1		NM_001226		15	80	0	0	0	0.006122	0	15	80		
EGF	1950	broad.mit.edu	37	4	110864425	110864425	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:110864425G>C	ENST00000265171.5	+	3	788	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	EGF_ENST00000509793.1_Missense_Mutation_p.E115Q|EGF_ENST00000503392.1_Missense_Mutation_p.E115Q|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	115					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATGTAATATAGAGAAAAATGT	0.254																																						uc003hzy.3		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(343-345)GAG>CAG		epidermal growth factor precursor	Sulindac(DB00605)						44.0	52.0	49.0					4																	110864425		2199	4291	6490	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110864425G>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.343G>C	4.37:g.110864425G>C	ENSP00000265171:p.Glu115Gln					EGF_uc011cfu.1_Missense_Mutation_p.E115Q|EGF_uc011cfv.1_Missense_Mutation_p.E115Q	p.E115Q	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	3	795	+		Hepatocellular(203;0.0893)	115			LDL-receptor class B 1.|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.343G>C	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365399	0.61513	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.91351	-2.83;-2.83;-2.83	5.69	4.82	0.62117	Six-bladed beta-propeller, TolB-like (1);	0.340346	0.37715	N	0.001979	D	0.93374	0.7887	M	0.70595	2.14	0.29763	N	0.835397	D;D;P	0.59357	0.974;0.985;0.954	P;P;P	0.59221	0.719;0.854;0.719	D	0.90132	0.4207	10	0.34782	T	0.22	.	14.6822	0.69026	0.0:0.1449:0.8551:0.0	.	115;115;115	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	Q	115	ENSP00000424316:E115Q;ENSP00000265171:E115Q;ENSP00000421384:E115Q	ENSP00000265171:E115Q	E	+	1	0	EGF	111083874	0.998000	0.40836	0.988000	0.46212	0.995000	0.86356	2.547000	0.45786	1.349000	0.45751	0.650000	0.86243	GAG		0.254	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1				8	69	0	0	0	0.00308	0	8	69		
ZGRF1	55345	broad.mit.edu	37	4	113524748	113524748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:113524748C>T	ENST00000505019.1	-	10	3033	c.2908G>A	c.(2908-2910)Gag>Aag	p.E970K	C4orf21_ENST00000309071.5_Missense_Mutation_p.E970K	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		970						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E970*(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTTTCATACTCAGTGCTATCT	0.403																																						uc003iau.2		NaN																	2	Substitution - Nonsense(2)		lung(2)		0						c.(2908-2910)GAG>AAG		prematurely terminated mRNA decay factor-like							202.0	164.0	177.0					4																	113524748		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113524748C>T																												ENST00000505019.1:c.2908G>A	4.37:g.113524748C>T	ENSP00000424737:p.Glu970Lys					C4orf21_uc003iaw.2_Missense_Mutation_p.E970K	p.E970K	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	10	3119	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.2908G>A		.	.	.	.	.	.	.	.	.	.	C	12.57	1.978064	0.34942	.	.	ENSG00000138658	ENST00000505019;ENST00000309071	D;T	0.86366	-2.11;1.36	5.38	2.66	0.31614	.	0.939016	0.08856	N	0.883778	T	0.82066	0.4956	L	0.50333	1.59	0.09310	N	1	B;B	0.21905	0.062;0.037	B;B	0.18561	0.022;0.008	T	0.66296	-0.5959	10	0.34782	T	0.22	1.214	6.1626	0.20372	0.0:0.6788:0.1533:0.1679	.	970;970	Q86YA3;G5EA02	CD021_HUMAN;.	K	970	ENSP00000424737:E970K;ENSP00000309095:E970K	ENSP00000309095:E970K	E	-	1	0	C4orf21	113744197	0.001000	0.12720	0.000000	0.03702	0.102000	0.19082	1.171000	0.31896	0.227000	0.20999	-0.266000	0.10368	GAG		0.403	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1				12	72	0	0	0	0.004007	0	12	72		
FAT4	79633	broad.mit.edu	37	4	126371442	126371442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:126371442C>T	ENST00000394329.3	+	9	9284	c.9271C>T	c.(9271-9273)Caa>Taa	p.Q3091*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.Q1389*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3091	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAATTCTCTCAAAGCCACAT	0.458																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(9271-9273)CAA>TAA		FAT tumor suppressor homolog 4 precursor							86.0	81.0	83.0					4																	126371442		2203	4300	6503	SO:0001587	stop_gained	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126371442C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9271C>T	4.37:g.126371442C>T	ENSP00000377862:p.Gln3091*					FAT4_uc011cgp.1_Nonsense_Mutation_p.Q1389*|FAT4_uc003ifi.1_Nonsense_Mutation_p.Q569*	p.Q3091*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	9271	+			3091			Cadherin 30.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	c.9271C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	51	17.405240	0.99885	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.63	5.63	0.86233	.	0.000000	0.33419	U	0.004930	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	.	.	.	X	3091;1389	.	ENSP00000335169:Q1389X	Q	+	1	0	FAT4	126590892	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.662000	0.83803	2.652000	0.90054	0.655000	0.94253	CAA		0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		7	47	0	0	0	0.004482	0	7	47		
HSPA4L	22824	broad.mit.edu	37	4	128722376	128722376	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:128722376G>A	ENST00000296464.4	+	5	924	c.513G>A	c.(511-513)atG>atA	p.M171I	HSPA4L_ENST00000508776.1_Missense_Mutation_p.M171I|HSPA4L_ENST00000505726.1_Missense_Mutation_p.M145I|HSPA4L_ENST00000439123.2_Missense_Mutation_p.M202I	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	171					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TAAGGTTGATGAATGAAACTA	0.328																																						uc003ifm.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(511-513)ATG>ATA		heat shock 70kDa protein 4-like							91.0	92.0	92.0					4																	128722376		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128722376G>A	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.513G>A	4.37:g.128722376G>A	ENSP00000296464:p.Met171Ile					HSPA4L_uc010iny.1_Missense_Mutation_p.M130I|HSPA4L_uc011cgr.1_Missense_Mutation_p.M138I	p.M171I	NM_014278	NP_055093	O95757	HS74L_HUMAN			5	766	+			171					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.513G>A	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068027	0.36470	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.00662	5.93;5.93;5.93;5.93;5.93	5.21	5.21	0.72293	.	0.044634	0.85682	D	0.000000	T	0.00412	0.0013	N	0.01242	-0.935	0.45541	D	0.998499	B;B;B	0.17268	0.008;0.021;0.021	B;B;B	0.22601	0.04;0.008;0.014	T	0.54384	-0.8302	10	0.02654	T	1	.	13.8704	0.63615	0.0:0.0:0.8476:0.1524	.	145;171;171	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	I	171;202;171;130;145	ENSP00000422482:M171I;ENSP00000393926:M202I;ENSP00000296464:M171I;ENSP00000427305:M130I;ENSP00000425645:M145I	ENSP00000296464:M171I	M	+	3	0	HSPA4L	128941826	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.824000	0.39072	2.716000	0.92895	0.650000	0.86243	ATG		0.328	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3		NM_014278		8	34	0	0	0	0.008291	0	8	34		
DCHS2	54798	broad.mit.edu	37	4	155157962	155157962	+	Silent	SNP	G	G	T	rs138701263		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:155157962G>T	ENST00000357232.4	-	25	6476	c.6477C>A	c.(6475-6477)gtC>gtA	p.V2159V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2159	Cadherin 19. {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)|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)		CAAGATAACCGACTTGCTTAT	0.403																																						uc003inw.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(6475-6477)GTC>GTA		dachsous 2 isoform 1							75.0	73.0	74.0					4																	155157962		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157962G>T	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.6477C>A	4.37:g.155157962G>T							p.V2159V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6477	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2159			Cadherin 19.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.6477C>A	CCDS3785.1																																																																																				0.403	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2		NM_001142552		8	53	1	0	0.000442599	0.006214	0.000456288	8	53		
IRF2	3660	broad.mit.edu	37	4	185340623	185340623	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:185340623C>T	ENST00000393593.3	-	3	394	c.187G>A	c.(187-189)Gga>Aga	p.G63R	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	63					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTTTTAGTACCTGTATGGATT	0.433																																						uc003iwf.3		NaN																	0				ovary(1)	1						c.(187-189)GGA>AGA		interferon regulatory factor 2							132.0	134.0	133.0					4																	185340623		2203	4300	6503	SO:0001630	splice_region_variant	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185340623C>T		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.187+1G>A	4.37:g.185340623C>T							p.G63R	NM_002199	NP_002190	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	3	387	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	63			IRF tryptophan pentad repeat.		D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.187G>A	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017827	0.93404	.	.	ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	4.97	4.97	0.65823	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99429	1.0935	9	.	.	.	-20.0477	18.4335	0.90634	0.0:1.0:0.0:0.0	.	63	P14316	IRF2_HUMAN	R	63	ENSP00000377218:G63R;ENSP00000427204:G63R;ENSP00000424552:G63R;ENSP00000422860:G63R	.	G	-	1	0	IRF2	185577617	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.635000	0.83286	2.572000	0.86782	0.643000	0.83706	GGA		0.433	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			Missense_Mutation	26	92	0	0	0	0.003271	0	26	92		
CFAP97	57587	broad.mit.edu	37	4	186111383	186111383	+	Missense_Mutation	SNP	G	G	A	rs200841332		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:186111383G>A	ENST00000458385.2	-	2	1087	c.968C>T	c.(967-969)tCg>tTg	p.S323L	KIAA1430_ENST00000514798.1_Missense_Mutation_p.S323L|KIAA1430_ENST00000296775.6_Missense_Mutation_p.S323L	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		323										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CACTGAAGACGACTTTGAGGA	0.338													A|||	1	0.000199681	0.0	0.0	5008	,	,		18467	0.0		0.001	False		,,,				2504	0.0					uc003ixf.3		NaN																	0					0						c.(967-969)TCG>TTG		hypothetical protein LOC57587							79.0	72.0	74.0					4																	186111383		1850	4104	5954	SO:0001583	missense	57587							g.chr4:186111383G>A																												ENST00000458385.2:c.968C>T	4.37:g.186111383G>A	ENSP00000409964:p.Ser323Leu					KIAA1430_uc003ixg.2_Missense_Mutation_p.S323L	p.S323L	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)	2	1115	-		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	323					B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	c.968C>T	CCDS47168.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	0.001	-3.940167	0.00003	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.44482	1.51;0.92;0.92	0.235	-0.47	0.12131	.	.	.	.	.	T	0.31734	0.0806	M	0.69823	2.125	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.01281	0.0;0.0	T	0.49735	-0.8908	8	0.12430	T	0.62	.	.	.	.	.	323;323	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	L	323	ENSP00000409964:S323L;ENSP00000423312:S323L;ENSP00000296775:S323L	ENSP00000296775:S323L	S	-	2	0	KIAA1430	186348377	0.004000	0.15560	0.001000	0.08648	0.000000	0.00434	-2.609000	0.00886	-3.486000	0.00154	-3.503000	0.00033	TCG		0.338	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2				4	25	0	0	0	0.009096	0	4	25		
SLC12A7	10723	broad.mit.edu	37	5	1076861	1076861	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:1076861C>T	ENST00000264930.5	-	13	1739	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	566					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATGCCAGTCTCGCAGATGAGG	0.652																																						uc003jbu.2		NaN																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(1696-1698)GAG>AAG		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						68.0	62.0	64.0					5																	1076861		2202	4298	6500	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1076861C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1696G>A	5.37:g.1076861C>T	ENSP00000264930:p.Glu566Lys						p.E566K	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		13	1762	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		566			Helical; (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1696G>A	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	c	15.86	2.958915	0.53400	.	.	ENSG00000113504	ENST00000264930	D	0.98666	-5.06	4.14	4.14	0.48551	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97714	0.9250	M	0.90252	3.1	0.80722	D	1	P	0.42827	0.791	B	0.34931	0.192	D	0.97971	1.0343	10	0.22706	T	0.39	.	14.2693	0.66143	0.0:1.0:0.0:0.0	.	566	Q9Y666	S12A7_HUMAN	K	566	ENSP00000264930:E566K	ENSP00000264930:E566K	E	-	1	0	SLC12A7	1129861	1.000000	0.71417	0.988000	0.46212	0.034000	0.12701	6.895000	0.75660	2.015000	0.59207	0.478000	0.44815	GAG		0.652	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2		NM_006598		6	77	0	0	0	0.001984	0	6	77		
ADAMTS16	170690	broad.mit.edu	37	5	5239387	5239387	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:5239387C>T	ENST00000274181.7	+	15	2416	c.2278C>T	c.(2278-2280)Cag>Tag	p.Q760*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	760	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCACACCAACCGTGAGTACTT	0.512																																						uc003jdl.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2278-2280)CAG>TAG		ADAM metallopeptidase with thrombospondin type 1							136.0	135.0	135.0					5																	5239387		2044	4196	6240	SO:0001630	splice_region_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239387C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2278+1C>T	5.37:g.5239387C>T						ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.Q760*|ADAMTS16_uc010itk.1_RNA	p.Q760*	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			15	2416	+			760			Spacer.		C6G490|Q8IVE2	Nonsense_Mutation	SNP	ENST00000274181.7	37	c.2278C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	40	8.165790	0.98686	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	.	.	.	5.85	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.5469	0.76108	0.0:0.8611:0.1389:0.0	.	.	.	.	X	760	.	ENSP00000274181:Q760X	Q	+	1	0	ADAMTS16	5292387	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.676000	0.46883	1.410000	0.46936	0.655000	0.94253	CAG		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1		NM_139056	Nonsense_Mutation	16	120	0	0	0	0.00499	0	16	120		
ADAMTS16	170690	broad.mit.edu	37	5	5239993	5239993	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:5239993G>A	ENST00000274181.7	+	16	2616	c.2478G>A	c.(2476-2478)gaG>gaA	p.E826E		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	826	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATGAGCCCGAGAACTTAATCG	0.517																																						uc003jdl.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2476-2478)GAG>GAA		ADAM metallopeptidase with thrombospondin type 1							95.0	92.0	93.0					5																	5239993		1869	4113	5982	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239993G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2478G>A	5.37:g.5239993G>A						ADAMTS16_uc003jdk.1_Silent_p.E826E	p.E826E	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			16	2616	+			826			Spacer.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2478G>A	CCDS43299.1																																																																																				0.517	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1		NM_139056		7	138	0	0	0	0.00308	0	7	138		
DNAH5	1767	broad.mit.edu	37	5	13735275	13735275	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:13735275C>T	ENST00000265104.4	-	68	11830	c.11726G>A	c.(11725-11727)cGa>cAa	p.R3909Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3909					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)			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)					ATGCTTGACTCGGTTCCTCTG	0.438									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(11725-11727)CGA>CAA		dynein, axonemal, heavy chain 5							114.0	108.0	110.0					5																	13735275		2203	4300	6503	SO:0001583	missense	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.chr5:13735275C>T	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.11726G>A	5.37:g.13735275C>T	ENSP00000265104:p.Arg3909Gln					DNAH5_uc003jfc.2_Missense_Mutation_p.R77Q	p.R3909Q	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			68	11768	-	Lung NSC(4;0.00476)		3909					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11726G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287984	0.23478	.	.	ENSG00000039139	ENST00000265104	T	0.56444	0.46	5.61	1.71	0.24356	.	0.362177	0.30575	N	0.009325	T	0.33411	0.0862	L	0.31065	0.9	0.36977	D	0.894091	B	0.06786	0.001	B	0.04013	0.001	T	0.14924	-1.0455	10	0.17369	T	0.5	.	7.1842	0.25791	0.2503:0.618:0.0:0.1317	.	3909	Q8TE73	DYH5_HUMAN	Q	3909	ENSP00000265104:R3909Q	ENSP00000265104:R3909Q	R	-	2	0	DNAH5	13788275	0.729000	0.28090	0.972000	0.41901	0.941000	0.58515	1.169000	0.31871	0.020000	0.15106	-0.142000	0.14014	CGA		0.438	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		8	110	0	0	0	0.010729	0	8	110		
TRIO	7204	broad.mit.edu	37	5	14304625	14304625	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:14304625C>T	ENST00000344204.4	+	8	1448	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	TRIO_ENST00000509967.2_Missense_Mutation_p.S426L|TRIO_ENST00000537187.1_Missense_Mutation_p.S475L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	475					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GACCTTCCCTCAGAGCTGCAG	0.393																																						uc003jff.2		NaN																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(1423-1425)TCA>TTA		triple functional domain (PTPRF interacting)							204.0	173.0	184.0					5																	14304625		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14304625C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1424C>T	5.37:g.14304625C>T	ENSP00000339299:p.Ser475Leu					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.S426L|TRIO_uc003jfh.1_Missense_Mutation_p.S124L	p.S475L	NM_007118	NP_009049	O75962	TRIO_HUMAN			8	1430	+	Lung NSC(4;0.000742)		475					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.1424C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450639	0.84101	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.67345	-0.26;-0.25;0.41	5.18	5.18	0.71444	.	0.070422	0.64402	D	0.000013	T	0.69178	0.3082	M	0.74258	2.255	0.80722	D	1	P;P;B	0.40553	0.721;0.537;0.267	B;B;B	0.38755	0.281;0.237;0.079	T	0.72994	-0.4122	10	0.45353	T	0.12	.	18.7131	0.91666	0.0:1.0:0.0:0.0	.	426;475;475	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	L	475;475;426;162	ENSP00000339299:S475L;ENSP00000446348:S475L;ENSP00000445592:S426L	ENSP00000339299:S475L	S	+	2	0	TRIO	14357625	1.000000	0.71417	0.831000	0.32960	0.994000	0.84299	7.792000	0.85828	2.427000	0.82271	0.650000	0.86243	TCA		0.393	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118		10	186	0	0	0	0.010729	0	10	186		
NPR3	4883	broad.mit.edu	37	5	32712174	32712174	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:32712174C>T	ENST00000265074.8	+	1	635	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	NPR3_ENST00000415167.2_Missense_Mutation_p.R98C|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	98					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GCCGGGCACTCGCTTCCAGGT	0.662																																						uc003jhv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(292-294)CGC>TGC		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						35.0	43.0	40.0					5																	32712174		1979	4155	6134	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712174C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.292C>T	5.37:g.32712174C>T	ENSP00000265074:p.Arg98Cys					NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.R98C	p.R98C	NM_000908	NP_000899	P17342	ANPRC_HUMAN			1	510	+			98			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.292C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387866	0.61956	.	.	ENSG00000113389	ENST00000265074;ENST00000415167	D;D	0.83419	-1.72;-1.72	5.37	3.36	0.38483	Extracellular ligand-binding receptor (1);	0.575849	0.19541	N	0.111786	T	0.77336	0.4115	L	0.54323	1.7	0.80722	D	1	P;P	0.48407	0.91;0.91	B;B	0.38458	0.274;0.274	T	0.78981	-0.1989	10	0.59425	D	0.04	-3.5726	12.0882	0.53710	0.2398:0.6529:0.1073:0.0	.	98;98	P17342;Q60I31	ANPRC_HUMAN;.	C	98	ENSP00000265074:R98C;ENSP00000398028:R98C	ENSP00000265074:R98C	R	+	1	0	NPR3	32747931	0.003000	0.15002	1.000000	0.80357	0.900000	0.52787	0.044000	0.13992	1.259000	0.44117	0.561000	0.74099	CGC		0.662	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3		NM_000908		3	46	0	0	0	0.009096	0	3	46		
BRIX1	55299	broad.mit.edu	37	5	34924954	34924954	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:34924954C>T	ENST00000336767.5	+	9	1029	c.666C>T	c.(664-666)atC>atT	p.I222I	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	222	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TATTAAAGATCATAGAAGAAG	0.323																																						uc003jja.2		NaN																	0					0						c.(664-666)ATC>ATT		BRIX							92.0	93.0	93.0					5																	34924954		2203	4300	6503	SO:0001819	synonymous_variant	55299				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr5:34924954C>T		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.666C>T	5.37:g.34924954C>T							p.I222I	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN			9	690	+			222			Brix.		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Silent	SNP	ENST00000336767.5	37	c.666C>T	CCDS34143.1																																																																																				0.323	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2		NM_018321		3	48	0	0	0	0.009096	0	3	48		
C5orf42	65250	broad.mit.edu	37	5	37180226	37180226	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:37180226G>A	ENST00000508244.1	-	27	5723	c.5630C>T	c.(5629-5631)tCc>tTc	p.S1877F	C5orf42_ENST00000425232.2_Missense_Mutation_p.S1877F|C5orf42_ENST00000274258.7_Missense_Mutation_p.S757F			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1877						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATGAGTGATGGAAATAATATC	0.284																																						uc011cpa.1		NaN																	0				ovary(4)|breast(2)|skin(1)	7						c.(5629-5631)TCC>TTC		hypothetical protein LOC65250							36.0	40.0	39.0					5																	37180226		2168	4234	6402	SO:0001583	missense	65250							g.chr5:37180226G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5630C>T	5.37:g.37180226G>A	ENSP00000421690:p.Ser1877Phe					C5orf42_uc011coy.1_Missense_Mutation_p.S377F|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.S952F	p.S1877F	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		28	5861	-	all_lung(31;0.000616)		1877					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.5630C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	6.675	0.493200	0.12702	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.26373	1.75;1.75;1.74;1.75	5.61	4.74	0.60224	.	0.489172	0.17594	N	0.168654	T	0.20577	0.0495	L	0.36672	1.1	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.18263	0.021;0.021	T	0.15636	-1.0430	10	0.54805	T	0.06	.	8.5632	0.33523	0.1733:0.0:0.8267:0.0	.	1877;757	E9PH94;Q9H799	.;CE042_HUMAN	F	1877;1877;757;925;757	ENSP00000421690:S1877F;ENSP00000389014:S1877F;ENSP00000274258:S757F;ENSP00000424223:S925F	ENSP00000274258:S757F	S	-	2	0	C5orf42	37215983	0.698000	0.27777	0.003000	0.11579	0.008000	0.06430	2.889000	0.48601	1.387000	0.46486	0.655000	0.94253	TCC		0.284	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1		NM_023073		3	55	0	0	0	0.004672	0	3	55		
PARP8	79668	broad.mit.edu	37	5	49963917	49963917	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:49963917C>T	ENST00000281631.5	+	2	262	c.104C>T	c.(103-105)tCt>tTt	p.S35F	PARP8_ENST00000505697.2_Missense_Mutation_p.S35F|PARP8_ENST00000505554.1_Missense_Mutation_p.S14F|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503665.1_Missense_Mutation_p.S35F|PARP8_ENST00000514067.2_Missense_Mutation_p.S35F|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000513738.1_Missense_Mutation_p.S35F|PARP8_ENST00000503750.2_Missense_Mutation_p.S35F	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	35						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTCAGATACTCTGACTCCACC	0.453																																						uc003jon.3		NaN																	0				lung(3)|large_intestine(1)|ovary(1)	5						c.(103-105)TCT>TTT		poly (ADP-ribose) polymerase family, member 8							157.0	149.0	152.0					5																	49963917		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:49963917C>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.104C>T	5.37:g.49963917C>T	ENSP00000281631:p.Ser35Phe					PARP8_uc011cpz.1_5'UTR|PARP8_uc003joo.2_Missense_Mutation_p.S35F|PARP8_uc003jop.2_Missense_Mutation_p.S35F	p.S35F	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			3	286	+		Lung NSC(810;0.0305)|Breast(144;0.222)	35					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.104C>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.088652	0.55968	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000502524;ENST00000515175;ENST00000281631;ENST00000513738;ENST00000503665;ENST00000514067;ENST00000503046;ENST00000505554	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000004	T	0.58293	0.2112	N	0.08118	0	0.80722	D	1	D;D	0.64830	0.994;0.99	D;D	0.74348	0.983;0.962	T	0.60561	-0.7239	8	.	.	.	-9.4822	18.4	0.90513	0.0:1.0:0.0:0.0	.	35;35	Q8N3A8-2;Q8N3A8	.;PARP8_HUMAN	F	35;35;35;35;35;35;35;35;35;14	.	.	S	+	2	0	PARP8	49999674	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	6.301000	0.72782	2.595000	0.87683	0.655000	0.94253	TCT		0.453	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3		NM_024615		6	86	0	0	0	0.00308	0	6	86		
ITGA2	3673	broad.mit.edu	37	5	52355784	52355784	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:52355784C>T	ENST00000296585.5	+	11	1397	c.1254C>T	c.(1252-1254)atC>atT	p.I418I		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	418					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCCATTTGATCTTTCCTAAAC	0.408																																						uc003joy.2		NaN																	0				lung(1)	1						c.(1252-1254)ATC>ATT		integrin alpha 2 precursor							92.0	87.0	89.0					5																	52355784		2203	4300	6503	SO:0001819	synonymous_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52355784C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1254C>T	5.37:g.52355784C>T						ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.I342I|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.I418I	NM_002203	NP_002194	P17301	ITA2_HUMAN			11	1397	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	418			Extracellular (Potential).|FG-GAP 3.		Q14595	Silent	SNP	ENST00000296585.5	37	c.1254C>T	CCDS3957.1																																																																																				0.408	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2		NM_002203		4	41	0	0	0	0.009096	0	4	41		
HTR1A	3350	broad.mit.edu	37	5	63257013	63257013	+	Silent	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:63257013C>A	ENST00000323865.3	-	1	767	c.534G>T	c.(532-534)ccG>ccT	p.P178P	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	178					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGCGGTCTTCCGGGGTGCGCC	0.597																																						uc011cqt.1		NaN																	0				ovary(2)|pancreas(2)	4						c.(532-534)CCG>CCT		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						109.0	127.0	121.0					5																	63257013		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257013C>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.534G>T	5.37:g.63257013C>A							p.P178P	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	534	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	178			Helical; Name=4; (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.534G>T	CCDS34168.1																																																																																				0.597	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1		NM_000524		29	143	1	0	2.51541e-25	0.004878	2.78973e-25	29	143		
VCAN	1462	broad.mit.edu	37	5	82833887	82833887	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:82833887A>G	ENST00000265077.3	+	8	5630	c.5065A>G	c.(5065-5067)Att>Gtt	p.I1689V	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.I702V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1689	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGCAACCACCATTTATCCAGT	0.398																																						uc003kii.3		NaN																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(5065-5067)ATT>GTT		versican isoform 1 precursor							89.0	88.0	88.0					5																	82833887		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82833887A>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5065A>G	5.37:g.82833887A>G	ENSP00000265077:p.Ile1689Val					VCAN_uc003kij.3_Missense_Mutation_p.I702V|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.I353V	p.I1689V	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	5421	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1689			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.5065A>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	7.718	0.696509	0.15106	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.84660	-1.85;-1.88;3.26	5.74	-5.17	0.02849	.	1.266460	0.05429	N	0.545658	T	0.60327	0.2260	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.57458	-0.7808	10	0.05721	T	0.95	.	1.6984	0.02867	0.3442:0.1029:0.3548:0.198	.	702;1689	P13611-2;P13611	.;CSPG2_HUMAN	V	1689;702;702	ENSP00000265077:I1689V;ENSP00000340062:I702V;ENSP00000426251:I702V	ENSP00000265077:I1689V	I	+	1	0	VCAN	82869643	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.476000	0.06591	-1.283000	0.02393	-0.250000	0.11733	ATT		0.398	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385		14	72	0	0	0	0.006122	0	14	72		
VCAN	1462	broad.mit.edu	37	5	82835572	82835572	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:82835572G>A	ENST00000265077.3	+	8	7315	c.6750G>A	c.(6748-6750)gaG>gaA	p.E2250E	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Silent_p.E1263E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2250	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAGATACTGAGCTCTTATTCT	0.378																																						uc003kii.3		NaN																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(6748-6750)GAG>GAA		versican isoform 1 precursor							65.0	65.0	65.0					5																	82835572		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82835572G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6750G>A	5.37:g.82835572G>A						VCAN_uc003kij.3_Silent_p.E1263E|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.E914E	p.E2250E	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	7106	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2250			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.6750G>A	CCDS4060.1																																																																																				0.378	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385		15	44	0	0	0	0.00499	0	15	44		
GPR98	84059	broad.mit.edu	37	5	90149230	90149230	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:90149230G>A	ENST00000405460.2	+	80	17430	c.17334G>A	c.(17332-17334)ctG>ctA	p.L5778L	GPR98_ENST00000425867.2_Silent_p.L1439L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5778					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAGGCTACTGGATGTCCAGG	0.398																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(17332-17334)CTG>CTA		G protein-coupled receptor 98 precursor							67.0	66.0	67.0					5																	90149230		1869	4099	5968	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90149230G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.17334G>A	5.37:g.90149230G>A						GPR98_uc003kjt.2_Silent_p.L3484L|GPR98_uc003kjw.2_Silent_p.L1439L	p.L5778L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	80	17430	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5778			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.17334G>A	CCDS47246.1																																																																																				0.398	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		4	24	0	0	0	0.009096	0	4	24		
WDR36	134430	broad.mit.edu	37	5	110440423	110440423	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:110440423G>A	ENST00000513710.2	+	9	1106	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	WDR36_ENST00000506538.2_Missense_Mutation_p.E368K|WDR36_ENST00000505303.1_Missense_Mutation_p.E312K			Q8NI36	WDR36_HUMAN	WD repeat domain 36	368					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TCCTACAGGTGAAGGCCGACT	0.418																																						uc003kpd.2		NaN																	0				ovary(1)|skin(1)	2						c.(1102-1104)GAA>AAA		WD repeat domain 36							216.0	203.0	207.0					5																	110440423		2202	4300	6502	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110440423G>A	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.1102G>A	5.37:g.110440423G>A	ENSP00000424628:p.Glu368Lys					WDR36_uc010jbu.2_RNA	p.E368K	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	9	1219	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	368			WD 4.		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.1102G>A	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878560	0.33162	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	T;T;T	0.80909	-1.43;-1.43;-0.44	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.479050	0.26023	N	0.026811	T	0.65069	0.2656	N	0.16903	0.455	0.35618	D	0.809199	B	0.27450	0.179	B	0.24974	0.057	T	0.69335	-0.5172	10	0.87932	D	0	-26.6413	6.73	0.23379	0.1119:0.1775:0.7105:0.0	.	368	Q8NI36	WDR36_HUMAN	K	368;368;312	ENSP00000423067:E368K;ENSP00000424628:E368K;ENSP00000422158:E312K	ENSP00000422158:E312K	E	+	1	0	WDR36	110468322	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.946000	0.56644	2.725000	0.93324	0.591000	0.81541	GAA		0.418	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3		NM_139281		9	113	0	0	0	0.006214	0	9	113		
APC	324	broad.mit.edu	37	5	112178932	112178932	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:112178932G>A	ENST00000457016.1	+	16	8021	c.7641G>A	c.(7639-7641)tgG>tgA	p.W2547*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.W2547*|APC_ENST00000508376.2_Nonsense_Mutation_p.W2547*			P25054	APC_HUMAN	adenomatous polyposis coli	2547	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGGAACCTGGAAACGTGAGC	0.428		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		1	Unknown(1)	p.?(1)	skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(7639-7641)TGG>TGA		adenomatous polyposis coli							87.0	85.0	86.0					5																	112178932		2202	4300	6502	SO:0001587	stop_gained	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112178932G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7641G>A	5.37:g.112178932G>A	ENSP00000413133:p.Trp2547*	TSP Lung(16;0.13)				APC_uc011cvt.1_Nonsense_Mutation_p.W2529*|APC_uc003kpz.3_Nonsense_Mutation_p.W2547*|APC_uc003kpy.3_Nonsense_Mutation_p.W2547*|APC_uc010jbz.2_Nonsense_Mutation_p.W2264*|APC_uc010jca.2_Nonsense_Mutation_p.W1847*	p.W2547*	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	8021	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2547			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	c.7641G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	49	15.964507	0.99850	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.4668	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	X	2547	.	.	W	+	3	0	APC	112206831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.066000	0.76734	2.884000	0.98904	0.655000	0.94253	TGG		0.428	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		NM_000038		5	56	0	0	0	0.001168	0	5	56		
FBN2	2201	broad.mit.edu	37	5	127704904	127704904	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:127704904G>A	ENST00000508053.1	-	22	3193	c.2219C>T	c.(2218-2220)cCc>cTc	p.P740L	FBN2_ENST00000508989.1_Missense_Mutation_p.P707L|FBN2_ENST00000262464.4_Missense_Mutation_p.P740L|Y_RNA_ENST00000384560.1_RNA|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	740	TB 3.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGGCTGGCAGGGTTCTCCAAA	0.463																																						uc003kuu.2		NaN																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(2218-2220)CCC>CTC		fibrillin 2 precursor							127.0	114.0	118.0					5																	127704904		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127704904G>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2219C>T	5.37:g.127704904G>A	ENSP00000424571:p.Pro740Leu					FBN2_uc003kuv.2_Missense_Mutation_p.P707L	p.P740L	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	16	2658	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	740			TB 3.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.2219C>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	33	5.198849	0.94997	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.94046	-3.34;-3.34;-3.34	4.57	4.57	0.56435	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000004	D	0.97074	0.9044	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97034	0.9752	10	0.56958	D	0.05	.	18.667	0.91493	0.0:0.0:1.0:0.0	.	707;740	D6RJI3;P35556	.;FBN2_HUMAN	L	740;740;707	ENSP00000262464:P740L;ENSP00000424571:P740L;ENSP00000425596:P707L	ENSP00000262464:P740L	P	-	2	0	FBN2	127732803	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.824000	0.97209	0.655000	0.94253	CCC		0.463	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999		20	67	0	0	0	0.00278	0	20	67		
KIF3A	11127	broad.mit.edu	37	5	132046656	132046656	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:132046656C>T	ENST00000378746.4	-	9	1441	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	KIF3A_ENST00000378735.1_Missense_Mutation_p.R408K|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.R408K	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	408					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTACCCCTTCTTTTTTTCCT	0.388																																						uc003kxo.2		NaN																	0				pancreas(1)	1						c.(1222-1224)AGA>AAA		kinesin family member 3A							137.0	145.0	142.0					5																	132046656		2203	4300	6503	SO:0001583	missense	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132046656C>T	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1223G>A	5.37:g.132046656C>T	ENSP00000368020:p.Arg408Lys					KIF3A_uc003kxn.2_Missense_Mutation_p.R366K|KIF3A_uc011cxf.1_Missense_Mutation_p.R408K|KIF3A_uc003kxp.2_Missense_Mutation_p.R408K	p.R408K	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1377	-		all_cancers(142;0.0751)|Breast(839;0.198)	408			Potential.		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	c.1223G>A	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	4.367	0.067588	0.08436	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231;ENST00000450914	T;T;T	0.71222	-0.55;3.76;-0.54	4.84	3.95	0.45737	.	0.097553	0.64402	D	0.000001	T	0.54695	0.1874	L	0.34521	1.04	0.51012	D	0.999903	B;B;B;B	0.11235	0.0;0.0;0.004;0.0	B;B;B;B	0.08055	0.001;0.0;0.003;0.0	T	0.49390	-0.8945	10	0.06099	T	0.92	.	13.6574	0.62346	0.0:0.9185:0.0:0.0815	.	408;408;408;407	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	K	408;408;408;408;378	ENSP00000368020:R408K;ENSP00000368009:R408K;ENSP00000385808:R408K	ENSP00000368009:R408K	R	-	2	0	KIF3A	132074555	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.119000	0.57891	2.377000	0.81083	0.313000	0.20887	AGA		0.388	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3		NM_007054		4	112	0	0	0	0.00308	0	4	112		
KIF3A	11127	broad.mit.edu	37	5	132052130	132052130	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:132052130G>A	ENST00000378746.4	-	7	979	c.761C>T	c.(760-762)tCa>tTa	p.S254L	KIF3A_ENST00000378735.1_Missense_Mutation_p.S254L|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.S254L	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	254	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGTCTTTCTGAACCCTAGCA	0.328																																						uc003kxo.2		NaN																	0				pancreas(1)	1						c.(760-762)TCA>TTA		kinesin family member 3A							76.0	76.0	76.0					5																	132052130		2203	4300	6503	SO:0001583	missense	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132052130G>A	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.761C>T	5.37:g.132052130G>A	ENSP00000368020:p.Ser254Leu					KIF3A_uc003kxn.2_Missense_Mutation_p.S213L|KIF3A_uc011cxf.1_Missense_Mutation_p.S254L|KIF3A_uc003kxp.2_Missense_Mutation_p.S254L	p.S254L	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	915	-		all_cancers(142;0.0751)|Breast(839;0.198)	254			Kinesin-motor.		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	c.761C>T	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	G	33	5.270851	0.95429	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231;ENST00000450914	D;D;D	0.82167	-1.58;-1.58;-1.58	5.45	5.45	0.79879	Kinesin, motor domain (5);Kinesin, motor region, conserved site (1);	0.124188	0.56097	D	0.000024	D	0.95207	0.8446	H	0.98370	4.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96791	0.9582	10	0.87932	D	0	.	19.6472	0.95784	0.0:0.0:1.0:0.0	.	254;254;254;254	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	L	254;254;254;254;224	ENSP00000368020:S254L;ENSP00000368009:S254L;ENSP00000385808:S254L	ENSP00000368009:S254L	S	-	2	0	KIF3A	132080029	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.706000	0.92434	0.561000	0.74099	TCA		0.328	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3		NM_007054		4	58	0	0	0	0.001984	0	4	58		
PCDHB2	56133	broad.mit.edu	37	5	140475294	140475294	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:140475294A>G	ENST00000194155.4	+	1	1068	c.920A>G	c.(919-921)cAg>cGg	p.Q307R		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	307	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTAAGACAGAAACTGGAT	0.413																																						uc003lil.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(919-921)CAG>CGG		protocadherin beta 2 precursor							86.0	89.0	88.0					5																	140475294		2203	4300	6503	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475294A>G	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.920A>G	5.37:g.140475294A>G	ENSP00000194155:p.Gln307Arg					PCDHB2_uc003lim.1_5'UTR	p.Q307R	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1058	+			307			Extracellular (Potential).|Cadherin 3.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.920A>G	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	A	0.681	-0.798225	0.02862	.	.	ENSG00000112852	ENST00000194155	T	0.50001	0.76	5.42	2.98	0.34508	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.18593	0.0446	N	0.01515	-0.825	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.16719	-1.0393	9	0.36615	T	0.2	.	4.5359	0.12028	0.6662:0.0:0.1927:0.1411	.	307	Q9Y5E7	PCDB2_HUMAN	R	307	ENSP00000194155:Q307R	ENSP00000194155:Q307R	Q	+	2	0	PCDHB2	140455478	0.000000	0.05858	0.773000	0.31616	0.057000	0.15508	0.050000	0.14120	0.417000	0.25871	0.533000	0.62120	CAG		0.413	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2		NM_018936		7	66	0	0	0	0.006214	0	7	66		
PCDHGA2	56113	broad.mit.edu	37	5	140719425	140719425	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:140719425C>T	ENST00000394576.2	+	1	887	c.887C>T	c.(886-888)tCa>tTa	p.S296L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	296	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)			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)			GAGCTTAAGTCAACATCTGGA	0.443																																						uc003ljk.1		NaN																	0				skin(2)|ovary(1)	3						c.(886-888)TCA>TTA		protocadherin gamma subfamily A, 2 isoform 1							136.0	148.0	144.0					5																	140719425		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719425C>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.887C>T	5.37:g.140719425C>T	ENSP00000378077:p.Ser296Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.S296L	p.S296L	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1072	+			296			Cadherin 3.|Extracellular (Potential).		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.887C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	9.005	0.981025	0.18812	.	.	ENSG00000081853	ENST00000394576	T	0.03094	4.05	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.481280	0.15405	U	0.264105	T	0.09555	0.0235	M	0.83312	2.635	0.09310	N	1	B;B	0.23128	0.021;0.08	B;B	0.27608	0.033;0.081	T	0.03619	-1.1019	10	0.52906	T	0.07	.	13.5413	0.61674	0.156:0.844:0.0:0.0	.	296;296	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	L	296	ENSP00000378077:S296L	ENSP00000378077:S296L	S	+	2	0	PCDHGA2	140699609	0.004000	0.15560	0.800000	0.32199	0.472000	0.32918	2.119000	0.41958	2.560000	0.86352	0.563000	0.77884	TCA		0.443	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1		NM_018915		15	155	0	0	0	0.006122	0	15	155		
PCDHGA2	56113	broad.mit.edu	37	5	140719466	140719466	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:140719466G>A	ENST00000394576.2	+	1	928	c.928G>A	c.(928-930)Gag>Aag	p.E310K	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	310	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)			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)			TCTAGATTATGAGGATGCTAC	0.413																																						uc003ljk.1		NaN																	0				skin(2)|ovary(1)	3						c.(928-930)GAG>AAG		protocadherin gamma subfamily A, 2 isoform 1							155.0	164.0	161.0					5																	140719466		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719466G>A	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.928G>A	5.37:g.140719466G>A	ENSP00000378077:p.Glu310Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.E310K	p.E310K	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1113	+			310			Cadherin 3.|Extracellular (Potential).		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.928G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	27.2	4.811788	0.90707	.	.	ENSG00000081853	ENST00000394576	T	0.72394	-0.65	5.26	5.26	0.73747	Cadherin (4);Cadherin-like (1);	0.178568	0.26272	U	0.025322	D	0.90621	0.7059	H	0.98089	4.145	0.43531	D	0.995817	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.941	D	0.93878	0.7168	10	0.87932	D	0	.	18.8587	0.92264	0.0:0.0:1.0:0.0	.	310;310	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	K	310	ENSP00000378077:E310K	ENSP00000378077:E310K	E	+	1	0	PCDHGA2	140699650	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.813000	0.99286	2.629000	0.89072	0.655000	0.94253	GAG		0.413	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1		NM_018915		13	176	0	0	0	0.00499	0	13	176		
PCDHGA2	56113	broad.mit.edu	37	5	140720046	140720046	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:140720046C>G	ENST00000394576.2	+	1	1508	c.1508C>G	c.(1507-1509)tCt>tGt	p.S503C	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	503	Cadherin 5. {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.S503F(2)		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)			CCCTTATCCTCTTACATCTCT	0.522																																						uc003ljk.1		NaN																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1507-1509)TCT>TGT		protocadherin gamma subfamily A, 2 isoform 1							93.0	96.0	95.0					5																	140720046		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720046C>G	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.1508C>G	5.37:g.140720046C>G	ENSP00000378077:p.Ser503Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.S503C	p.S503C	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1693	+			503			Extracellular (Potential).|Cadherin 5.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.1508C>G	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	10.77	1.443842	0.25987	.	.	ENSG00000081853	ENST00000394576	T	0.52983	0.64	5.24	4.36	0.52297	Cadherin (4);Cadherin-like (1);	0.000000	0.41097	U	0.000948	T	0.80497	0.4634	H	0.98682	4.3	0.27130	N	0.961919	D;D	0.76494	0.992;0.999	D;D	0.76575	0.978;0.988	T	0.80103	-0.1522	10	0.87932	D	0	.	15.2215	0.73313	0.142:0.858:0.0:0.0	.	503;503	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	C	503	ENSP00000378077:S503C	ENSP00000378077:S503C	S	+	2	0	PCDHGA2	140700230	0.017000	0.18338	0.074000	0.20217	0.002000	0.02628	2.623000	0.46435	1.327000	0.45338	-0.169000	0.13324	TCT		0.522	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1		NM_018915		6	57	0	0	0	0.001168	0	6	57		
ARAP3	64411	broad.mit.edu	37	5	141044642	141044642	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:141044642G>A	ENST00000239440.4	-	19	2712	c.2647C>T	c.(2647-2649)Ctg>Ttg	p.L883L	ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Silent_p.L785L|ARAP3_ENST00000513878.1_Silent_p.L545L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	883					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TCTCCTTGCAGATACAGGGTC	0.667											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003llm.2		NaN																	0				breast(5)|ovary(1)|large_intestine(1)	7						c.(2647-2649)CTG>TTG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							23.0	26.0	25.0					5																	141044642		2203	4300	6503	SO:0001819	synonymous_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141044642G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2647C>T	5.37:g.141044642G>A			OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1661	ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Silent_p.L545L|ARAP3_uc003lln.2_Silent_p.L785L	p.L883L	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			19	2725	-			883					B4DIT1|D3DQE3	Silent	SNP	ENST00000239440.4	37	c.2647C>T	CCDS4266.1																																																																																				0.667	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1		NM_022481		6	17	0	0	0	0.001984	0	6	17		
TIGD6	81789	broad.mit.edu	37	5	149375650	149375650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:149375650C>A	ENST00000296736.3	-	2	1036	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	TIGD6_ENST00000515406.2_Nonsense_Mutation_p.E88*	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	88	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCATGGATTTCTTGAAACCAA	0.443																																						uc003lri.2		NaN																	0				ovary(1)	1						c.(262-264)GAA>TAA		hypothetical protein LOC81789							167.0	166.0	166.0					5																	149375650		2203	4300	6503	SO:0001587	stop_gained	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149375650C>A	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.262G>T	5.37:g.149375650C>A	ENSP00000296736:p.Glu88*					TIGD6_uc003lrj.2_Nonsense_Mutation_p.E88*	p.E88*	NM_030953	NP_112215	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	1024	-			88			HTH CENPB-type.		B3KTZ8|Q96MQ4|Q9H0X7	Nonsense_Mutation	SNP	ENST00000296736.3	37	c.262G>T	CCDS4301.1	.	.	.	.	.	.	.	.	.	.	C	41	9.084266	0.99061	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	.	.	.	4.89	3.07	0.35406	.	0.452975	0.16125	U	0.228454	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	7.8283	0.29328	0.1613:0.7524:0.0:0.0862	.	.	.	.	X	88	.	ENSP00000296736:E88X	E	-	1	0	TIGD6	149355843	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.228000	0.17814	0.748000	0.32831	0.650000	0.86243	GAA		0.443	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1		NM_030953		28	207	1	0	1.62565e-12	0.012213	1.78643e-12	28	207		
ATP10B	23120	broad.mit.edu	37	5	160047939	160047939	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:160047939T>C	ENST00000327245.5	-	15	2677	c.1831A>G	c.(1831-1833)Agc>Ggc	p.S611G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	611					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGCCTTGCTTGAGGGTTTG	0.463																																						uc003lym.1		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1831-1833)AGC>GGC		ATPase, class V, type 10B							176.0	171.0	172.0					5																	160047939		1975	4166	6141	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047939T>C	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1831A>G	5.37:g.160047939T>C	ENSP00000313600:p.Ser611Gly					ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.S169G	p.S611G	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	2678	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	611			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1831A>G	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	T	3.124	-0.179977	0.06380	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.85258	-1.96;-1.96	5.53	-1.45	0.08828	HAD-like domain (1);	1.173640	0.06001	N	0.647811	T	0.66645	0.2810	N	0.11313	0.125	0.09310	N	1	B;B	0.21821	0.028;0.061	B;B	0.25614	0.024;0.062	T	0.51926	-0.8643	9	.	.	.	.	0.8316	0.01132	0.3635:0.1394:0.1252:0.3718	.	219;611	Q2YDW8;O94823	.;AT10B_HUMAN	G	611;219	ENSP00000313600:S611G;ENSP00000431081:S219G	.	S	-	1	0	ATP10B	159980517	0.000000	0.05858	0.000000	0.03702	0.583000	0.36354	0.078000	0.14761	-0.223000	0.09943	0.533000	0.62120	AGC		0.463	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1		NM_025153		21	218	0	0	0	0.004656	0	21	218		
ADAMTS2	9509	broad.mit.edu	37	5	178555036	178555036	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:178555036G>T	ENST00000251582.7	-	17	2642	c.2541C>A	c.(2539-2541)aaC>aaA	p.N847K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	847	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N847N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTCCAGGACGTTGTTGTCGT	0.587																																						uc003mjw.2		NaN																	1	Substitution - coding silent(1)		kidney(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(2539-2541)AAC>AAA		ADAM metallopeptidase with thrombospondin type 1							203.0	164.0	177.0					5																	178555036		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178555036G>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2541C>A	5.37:g.178555036G>T	ENSP00000251582:p.Asn847Lys						p.N847K	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	17	2541	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	847			Spacer.			Missense_Mutation	SNP	ENST00000251582.7	37	c.2541C>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319758	0.41096	.	.	ENSG00000087116	ENST00000251582	T	0.59906	0.23	4.55	-9.1	0.00714	.	0.418329	0.22148	N	0.063949	T	0.49474	0.1559	M	0.75777	2.31	0.58432	D	0.999993	P	0.34977	0.478	B	0.34489	0.184	T	0.56547	-0.7961	10	0.52906	T	0.07	.	13.8233	0.63336	0.2652:0.1136:0.6212:0.0	.	847	O95450	ATS2_HUMAN	K	847	ENSP00000251582:N847K	ENSP00000251582:N847K	N	-	3	2	ADAMTS2	178487642	0.000000	0.05858	0.591000	0.28745	0.222000	0.24845	-2.174000	0.01264	-2.446000	0.00546	-1.587000	0.00848	AAC		0.587	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1		NM_014244		12	93	1	0	6.72482e-11	0.003163	7.34953e-11	12	93		
MAPK9	5601	broad.mit.edu	37	5	179675973	179675973	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:179675973C>T	ENST00000452135.2	-	6	914	c.616G>A	c.(616-618)Gtt>Att	p.V206I	MAPK9_ENST00000455781.1_Splice_Site_p.V206M|MAPK9_ENST00000425491.2_Splice_Site_p.V206I|MAPK9_ENST00000347470.4_Splice_Site_p.A206T|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Splice_Site_p.V206I|MAPK9_ENST00000539014.1_Splice_Site_p.A206T|MAPK9_ENST00000343111.6_Splice_Site_p.V206M|MAPK9_ENST00000524170.1_5'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATACTCACCGTTCTCTTTG	0.512																																						uc003mls.3		NaN																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4						c.(616-618)GTT>ATT		mitogen-activated protein kinase 9 isoform JNK2							249.0	272.0	265.0					5																	179675973		2203	4300	6503	SO:0001630	splice_region_variant	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding 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|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding	g.chr5:179675973C>T	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.616+1G>A	5.37:g.179675973C>T						MAPK9_uc003mlt.3_Missense_Mutation_p.V206I|MAPK9_uc010jlc.2_Missense_Mutation_p.V206M|MAPK9_uc003mlv.3_Missense_Mutation_p.V206M|MAPK9_uc011dgx.1_Missense_Mutation_p.V206I	p.V206I	NM_002752	NP_002743	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	887	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	206			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.616G>A	CCDS4453.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.56|11.56|11.56	1.676077|1.676077|1.676077	0.29783|0.29783|0.29783	.|.|.	.|.|.	ENSG00000050748|ENSG00000050748|ENSG00000050748	ENST00000347470;ENST00000539014|ENST00000452135;ENST00000393360;ENST00000425491|ENST00000455781;ENST00000343111	D;T|D;D;D|D;D	0.82619|0.83755|0.84660	-1.63;-0.2|-1.76;-1.76;-1.76|-1.88;-1.88	5.59|5.59|5.59	5.59|5.59|5.59	0.84812|0.84812|0.84812	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|0.068913|0.068913	.|0.56097|0.56097	.|D|D	.|0.000021|0.000021	D|D|D	0.89560|0.89560|0.89560	0.6750|0.6750|0.6750	L|L|L	0.58510|0.58510|0.58510	1.815|1.815|1.815	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;P;B|D;D	.|0.52463|0.71674	.|0.1;0.953;0.342|0.997;0.998	.|B;P;B|P;P	.|0.59643|0.57324	.|0.123;0.861;0.415|0.767;0.818	D|D|D	0.88331|0.88331|0.88331	0.2968|0.2968|0.2968	6|9|9	.|.|.	.|.|.	.|.|.	-8.9565|-8.9565|-8.9565	19.6612|19.6612|19.6612	0.95875|0.95875|0.95875	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|206;206;206|206;206	.|P45984-5;P45984-2;P45984|P45984-4;P45984-3	.|.;.;MK09_HUMAN|.;.	T|I|M	206|206|206	ENSP00000321410:A206T;ENSP00000443149:A206T|ENSP00000394560:V206I;ENSP00000377028:V206I;ENSP00000397422:V206I|ENSP00000389338:V206M;ENSP00000345524:V206M	.|.|.	A|V|V	-|-|-	1|1|1	0|0|0	MAPK9|MAPK9|MAPK9	179608579|179608579|179608579	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.975000|0.975000|0.975000	0.42487|0.42487|0.42487	0.800000|0.800000|0.800000	0.45204|0.45204|0.45204	7.711000|7.711000|7.711000	0.84669|0.84669|0.84669	2.639000|2.639000|2.639000	0.89480|0.89480|0.89480	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GCA;GCT|GTT|GTG		0.512	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			Missense_Mutation	34	436	0	0	0	0.01441	0	34	436		
FLT4	2324	broad.mit.edu	37	5	180048704	180048704	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:180048704G>A	ENST00000261937.6	-	13	1936	c.1858C>T	c.(1858-1860)Ctg>Ttg	p.L620L	FLT4_ENST00000393347.3_Silent_p.L620L|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.L620L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	620	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGCGGCCAGAGGGGTGGCG	0.682																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NaN																	0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(1858-1860)CTG>TTG		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						31.0	29.0	29.0					5																	180048704		2203	4299	6502	SO:0001819	synonymous_variant	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048704G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1858C>T	5.37:g.180048704G>A						FLT4_uc003mlz.3_Silent_p.L620L|FLT4_uc003mmb.1_Silent_p.L153L|FLT4_uc011dgy.1_Silent_p.L620L	p.L620L	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	1937	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	620			Ig-like C2-type 6.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1858C>T	CCDS4457.1																																																																																				0.682	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4				4	23	0	0	0	0.009096	0	4	23		
BTNL9	153579	broad.mit.edu	37	5	180475178	180475178	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:180475178C>T	ENST00000327705.9	+	3	592	c.361C>T	c.(361-363)Cac>Tac	p.H121Y	BTNL9_ENST00000376841.2_Missense_Mutation_p.H121Y|BTNL9_ENST00000376842.3_Missense_Mutation_p.H121Y|BTNL9_ENST00000515271.1_Missense_Mutation_p.H52Y	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	121	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGCAGCTTCACAGCATCAT	0.607																																						uc003mmt.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(361-363)CAC>TAC		butyrophilin-like 9 precursor							70.0	59.0	63.0					5																	180475178		2203	4300	6503	SO:0001583	missense	153579					integral to membrane		g.chr5:180475178C>T	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.361C>T	5.37:g.180475178C>T	ENSP00000330200:p.His121Tyr					BTNL9_uc011dhi.1_Missense_Mutation_p.H52Y	p.H121Y	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	592	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	121			Extracellular (Potential).|Ig-like V-type.		A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	ENST00000327705.9	37	c.361C>T	CCDS4460.2	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433354	0.25813	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	T;T;T;T	0.65549	-0.16;-0.16;-0.16;4.22	5.01	1.16	0.20824	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.299680	0.05525	N	0.562769	T	0.52677	0.1749	L	0.50847	1.595	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.17979	0.011;0.02	T	0.27502	-1.0072	10	0.26408	T	0.33	.	3.5336	0.07786	0.1381:0.572:0.1338:0.1561	.	52;121	B7Z4Y8;Q6UXG8	.;BTNL9_HUMAN	Y	121;121;121;121;52	ENSP00000366037:H121Y;ENSP00000330200:H121Y;ENSP00000366038:H121Y;ENSP00000427345:H52Y	ENSP00000330200:H121Y	H	+	1	0	BTNL9	180407784	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.454000	0.21827	0.078000	0.16900	0.650000	0.86243	CAC		0.607	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3		NM_152547		5	32	0	0	0	0.000602	0	5	32		
WRNIP1	56897	broad.mit.edu	37	6	2769089	2769089	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:2769089G>A	ENST00000380773.4	+	2	1196	c.987G>A	c.(985-987)gaG>gaA	p.E329E	WRNIP1_ENST00000380769.4_Silent_p.E109E|WRNIP1_ENST00000380771.4_Silent_p.E329E|WRNIP1_ENST00000380764.1_5'UTR	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TTATTGATGAGATTCATCGGT	0.343																																						uc003mtz.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(985-987)GAG>GAA		Werner helicase interacting protein isoform 1							71.0	77.0	75.0					6																	2769089		2203	4300	6503	SO:0001819	synonymous_variant	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2769089G>A	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.987G>A	6.37:g.2769089G>A						WRNIP1_uc003mua.2_Silent_p.E329E	p.E329E	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN			2	1178	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	329						Silent	SNP	ENST00000380773.4	37	c.987G>A	CCDS4475.1																																																																																				0.343	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1		NM_130395		5	30	0	0	0	0.001984	0	5	30		
RREB1	6239	broad.mit.edu	37	6	7229455	7229455	+	Missense_Mutation	SNP	G	G	C	rs373354349		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:7229455G>C	ENST00000349384.6	+	10	1437	c.1123G>C	c.(1123-1125)Gtc>Ctc	p.V375L	RREB1_ENST00000379933.3_Missense_Mutation_p.V375L|RREB1_ENST00000334984.6_Missense_Mutation_p.V375L|RREB1_ENST00000379938.2_Missense_Mutation_p.V375L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	375					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACCAAAGACGTCAGGCCTGC	0.642																																						uc003mxc.2		NaN																	0				ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(1123-1125)GTC>CTC		ras responsive element binding protein 1 isoform							32.0	35.0	34.0					6																	7229455		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229455G>C	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1123G>C	6.37:g.7229455G>C	ENSP00000305560:p.Val375Leu					RREB1_uc003mxb.2_Missense_Mutation_p.V375L|RREB1_uc010jnx.2_Missense_Mutation_p.V375L	p.V375L	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	1513	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	375					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1123G>C	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	9.422	1.083274	0.20309	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.14766	2.61;2.57;2.61;2.48;2.65	5.71	0.396	0.16309	.	0.483235	0.17205	N	0.182965	T	0.02494	0.0076	N	0.24115	0.695	0.09310	N	1	B;B;B	0.16166	0.004;0.004;0.016	B;B;B	0.16722	0.011;0.005;0.016	T	0.45440	-0.9261	10	0.27082	T	0.32	-14.5791	8.7977	0.34890	0.3388:0.1055:0.5556:0.0	.	375;375;375	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	L	375	ENSP00000369265:V375L;ENSP00000369270:V375L;ENSP00000305560:V375L;ENSP00000335574:V375L;ENSP00000419511:V375L	ENSP00000335574:V375L	V	+	1	0	RREB1	7174454	0.000000	0.05858	0.025000	0.17156	0.966000	0.64601	-0.053000	0.11846	0.078000	0.16900	-0.379000	0.06801	GTC		0.642	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1				3	60	0	0	0	0.009096	0	3	60		
TXNDC5	81567	broad.mit.edu	37	6	7899902	7899902	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:7899902G>A	ENST00000379757.4	-	3	463	c.426C>T	c.(424-426)ttC>ttT	p.F142F	TXNDC5_ENST00000539054.1_Silent_p.F70F|TXNDC5_ENST00000473453.1_Silent_p.F34F|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	142	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					GGCCTGGCTTGAAAAGCTTTA	0.438																																					Ovarian(119;1430 1625 3928 26125 34589)	uc003mxv.2		NaN																	0					0						c.(424-426)TTC>TTT		thioredoxin domain containing 5 isoform 1							76.0	75.0	75.0					6																	7899902		2203	4300	6503	SO:0001819	synonymous_variant	81567				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity	g.chr6:7899902G>A	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.426C>T	6.37:g.7899902G>A						TXNDC5_uc003mxw.2_Silent_p.F99F|TXNDC5_uc010jnz.2_Silent_p.F34F|TXNDC5_uc010joa.1_Silent_p.F34F	p.F142F	NM_030810	NP_110437	Q8NBS9	TXND5_HUMAN			3	458	-	Ovarian(93;0.0398)		142			Thioredoxin 1.		B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP	ENST00000379757.4	37	c.426C>T	CCDS4505.1																																																																																				0.438	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1		NM_030810		9	59	0	0	0	0.008291	0	9	59		
HIVEP1	3096	broad.mit.edu	37	6	12123010	12123010	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:12123010G>A	ENST00000379388.2	+	4	3314	c.2982G>A	c.(2980-2982)atG>atA	p.M994I	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	994					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGTAGCCATGAGAGAACCTG	0.473																																						uc003nac.2		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2980-2982)ATG>ATA		human immunodeficiency virus type I enhancer							101.0	104.0	103.0					6																	12123010		1885	4115	6000	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123010G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2982G>A	6.37:g.12123010G>A	ENSP00000368698:p.Met994Ile					HIVEP1_uc011diq.1_RNA	p.M994I	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	3161	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	994					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2982G>A	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.191852	0.00302	.	.	ENSG00000095951	ENST00000379388	T	0.10960	2.82	5.74	1.06	0.20224	.	1.288680	0.05919	N	0.633179	T	0.00552	0.0018	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44406	-0.9330	9	.	.	.	0.0133	0.6794	0.00872	0.3822:0.1295:0.2652:0.2231	.	994	P15822	ZEP1_HUMAN	I	994	ENSP00000368698:M994I	.	M	+	3	0	HIVEP1	12230996	0.004000	0.15560	0.005000	0.12908	0.115000	0.19883	-0.178000	0.09782	0.279000	0.22186	-0.137000	0.14449	ATG		0.473	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		9	256	0	0	0	0.008291	0	9	256		
DHX16	8449	broad.mit.edu	37	6	30627933	30627933	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:30627933G>A	ENST00000376442.3	-	10	1826	c.1631C>T	c.(1630-1632)cCt>cTt	p.P544L	DHX16_ENST00000376437.5_Missense_Mutation_p.P63L|DHX16_ENST00000480966.1_5'UTR	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	544	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CTTGAGCTCAGGTCGGAAGCG	0.537																																						uc003nqz.2		NaN																	0				ovary(2)|kidney(2)	4						c.(1630-1632)CCT>CTT		DEAH (Asp-Glu-Ala-His) box polypeptide 16							147.0	122.0	131.0					6																	30627933		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30627933G>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1631C>T	6.37:g.30627933G>A	ENSP00000365625:p.Pro544Leu					DHX16_uc003nqy.2_Missense_Mutation_p.P63L|DHX16_uc011dmo.1_Missense_Mutation_p.P484L	p.P544L	NM_003587	NP_003578	O60231	DHX16_HUMAN			10	1843	-			544			Helicase ATP-binding.		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.1631C>T	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033168	0.54896	.	.	ENSG00000204560	ENST00000376442;ENST00000376437	T;T	0.27402	1.67;1.67	4.9	4.9	0.64082	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.183245	0.47455	D	0.000226	T	0.35799	0.0944	H	0.94345	3.525	0.80722	D	1	B;B;B	0.25206	0.044;0.12;0.002	B;B;B	0.27076	0.055;0.076;0.003	T	0.50250	-0.8850	10	0.66056	D	0.02	.	12.4501	0.55673	0.0:0.0:0.8322:0.1678	.	484;544;63	B4DZ28;O60231;Q5SQH5	.;DHX16_HUMAN;.	L	544;63	ENSP00000365625:P544L;ENSP00000365620:P63L	ENSP00000365620:P63L	P	-	2	0	DHX16	30735912	0.569000	0.26643	1.000000	0.80357	0.998000	0.95712	2.441000	0.44864	2.707000	0.92482	0.555000	0.69702	CCT		0.537	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2		NM_003587		5	59	0	0	0	0.001168	0	5	59		
COL11A2	1302	broad.mit.edu	37	6	33146477	33146477	+	Silent	SNP	G	G	A	rs139350991		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:33146477G>A	ENST00000374708.4	-	16	1698	c.1440C>T	c.(1438-1440)ctC>ctT	p.L480L	COL11A2_ENST00000374713.1_Silent_p.L519L|COL11A2_ENST00000357486.1_Silent_p.L545L|COL11A2_ENST00000395197.1_Silent_p.L506L|COL11A2_ENST00000374712.1_Silent_p.L485L|COL11A2_ENST00000341947.2_Silent_p.L566L|COL11A2_ENST00000361917.1_Silent_p.L459L|COL11A2_ENST00000374714.1_Silent_p.L540L|COL11A2_ENST00000477772.1_5'Flank	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	566	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCTCTCCAGGGAGCCCTGGGA	0.562																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NaN																	0				ovary(3)|skin(2)	5						c.(1696-1698)CTC>CTT		collagen, type XI, alpha 2 isoform 1		G	,,	0,3022		0,0,1511	241.0	214.0	223.0		1377,1698,1440	-8.3	0.6	6	dbSNP_134	223	2,5416		0,2,2707	no	coding-synonymous,coding-synonymous,coding-synonymous	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	,,	0,2,4218	AA,AG,GG		0.0369,0.0,0.0237	,,	459/1630,566/1737,480/1651	33146477	2,8438	1511	2709	4220	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33146477G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1440C>T	6.37:g.33146477G>A						COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Silent_p.L480L|COL11A2_uc003ocz.1_Silent_p.L459L	p.L566L	NM_080680	NP_542411	P13942	COBA2_HUMAN			18	1926	-			566			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.1698C>T	CCDS43452.1																																																																																				0.562	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2				10	194	0	0	0	0.013537	0	10	194		
YIPF3	25844	broad.mit.edu	37	6	43481144	43481144	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:43481144G>C	ENST00000372422.2	-	5	669	c.487C>G	c.(487-489)Ctg>Gtg	p.L163V	LRRC73_ENST00000372441.1_5'Flank|YIPF3_ENST00000506469.1_Missense_Mutation_p.L169V	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	163					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ATAGCAACCAGAGTGAAGACC	0.473																																						uc003ovl.1		NaN																	0					0						c.(487-489)CTG>GTG		natural killer cell-specific antigen KLIP1							117.0	120.0	119.0					6																	43481144		2203	4300	6503	SO:0001583	missense	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43481144G>C	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.487C>G	6.37:g.43481144G>C	ENSP00000361499:p.Leu163Val					C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Missense_Mutation_p.L128V|YIPF3_uc010jyr.1_Missense_Mutation_p.L169V|YIPF3_uc010jys.1_Missense_Mutation_p.L6V|YIPF3_uc003ovm.1_Missense_Mutation_p.L37V|YIPF3_uc010jyt.1_Missense_Mutation_p.L112V	p.L163V	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		5	644	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		163			Helical; (Potential).		Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	ENST00000372422.2	37	c.487C>G	CCDS4899.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367112	0.41902	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469;ENST00000503972	T;T;T	0.49720	0.77;0.77;0.77	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.67397	2.05	0.58432	D	0.999998	P;D;B;D	0.54964	0.944;0.969;0.346;0.969	P;P;B;P	0.51135	0.572;0.66;0.199;0.66	T	0.53830	-0.8383	10	0.72032	D	0.01	-12.1721	12.9302	0.58282	0.0747:0.0:0.9253:0.0	.	112;169;128;163	D6RED8;E7EQR8;Q5JTD5;Q9GZM5	.;.;.;YIPF3_HUMAN	V	163;112;169;163	ENSP00000361499:L163V;ENSP00000425494:L169V;ENSP00000421461:L163V	ENSP00000361499:L163V	L	-	1	2	YIPF3	43589122	1.000000	0.71417	0.913000	0.36048	0.909000	0.53808	3.753000	0.55180	1.460000	0.47911	0.655000	0.94253	CTG		0.473	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2		NM_015388		7	43	0	0	0	0.00308	0	7	43		
HMGCLL1	54511	broad.mit.edu	37	6	55360227	55360227	+	Missense_Mutation	SNP	G	G	A	rs201456410		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:55360227G>A	ENST00000398661.2	-	8	1006	c.875C>T	c.(874-876)aCg>aTg	p.T292M	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.T262M|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.T159M|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.T230M	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	292					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAAGGGCCGTAAGGATATT	0.383																																					Ovarian(35;840 893 7837 15538 42887)	uc003pcn.2		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(874-876)ACG>ATG		3-hydroxymethyl-3-methylglutaryl-Coenzyme A		G	MET/THR,MET/THR	0,3760		0,0,1880	111.0	100.0	103.0		785,875	3.7	0.4	6		103	1,8211		0,1,4105	yes	missense,missense	HMGCLL1	NM_001042406.1,NM_019036.2	81,81	0,1,5985	AA,AG,GG		0.0122,0.0,0.0084	benign,benign	262/341,292/371	55360227	1,11971	1880	4106	5986	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55360227G>A	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.875C>T	6.37:g.55360227G>A	ENSP00000381654:p.Thr292Met					HMGCLL1_uc003pco.2_Missense_Mutation_p.T262M|HMGCLL1_uc010jzx.2_Missense_Mutation_p.T163M|HMGCLL1_uc011dxc.1_Missense_Mutation_p.T230M|HMGCLL1_uc011dxd.1_Missense_Mutation_p.T159M|HMGCLL1_uc011dxe.1_Intron	p.T292M	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		8	1034	-	Lung NSC(77;0.0875)		292					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.875C>T	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	G	8.878	0.950963	0.18431	0.0	1.22E-4	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000308161	D;D;D;D	0.98207	-4.79;-4.79;-4.67;-4.79	5.5	3.72	0.42706	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.258798	0.44688	N	0.000437	D	0.91129	0.7207	N	0.13272	0.32	0.32979	D	0.523346	B;B;B;B	0.23316	0.009;0.008;0.018;0.083	B;B;B;B	0.26693	0.012;0.024;0.024;0.072	D	0.84574	0.0657	10	0.46703	T	0.11	-16.991	11.9507	0.52954	0.1413:0.0:0.8587:0.0	.	159;230;262;292	B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;HMGC2_HUMAN	M	262;292;159;230	ENSP00000274901:T262M;ENSP00000381654:T292M;ENSP00000359887:T159M;ENSP00000309737:T230M	ENSP00000274901:T262M	T	-	2	0	HMGCLL1	55468186	1.000000	0.71417	0.395000	0.26283	0.958000	0.62258	3.434000	0.52841	0.682000	0.31407	0.655000	0.94253	ACG		0.383	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1		XM_166383		8	67	0	0	0	0.008291	0	8	67		
DST	667	broad.mit.edu	37	6	56334713	56334713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:56334713G>A	ENST00000361203.3	-	92	21566	c.21559C>T	c.(21559-21561)Caa>Taa	p.Q7187*	DST_ENST00000446842.2_Nonsense_Mutation_p.Q6972*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q7298*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q5183*|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Nonsense_Mutation_p.Q7476*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q5101*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q4884*			Q03001	DYST_HUMAN	dystonin	7296					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCTCAACTTGAAATCGCTTT	0.313																																						uc003pdf.2		NaN																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(16162-16164)CAA>TAA		dystonin isoform 2							125.0	121.0	122.0					6																	56334713		1862	4104	5966	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56334713G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21559C>T	6.37:g.56334713G>A	ENSP00000354508:p.Gln7187*					DST_uc003pcz.3_Nonsense_Mutation_p.Q5210*|DST_uc011dxj.1_Nonsense_Mutation_p.Q5239*|DST_uc011dxk.1_Nonsense_Mutation_p.Q5250*|DST_uc003pcy.3_Nonsense_Mutation_p.Q4884*|DST_uc003pcw.3_5'Flank|DST_uc003pcx.3_5'UTR	p.Q5388*	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		91	16190	-	Lung NSC(77;0.103)		7296			GAR.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.16162C>T		.	.	.	.	.	.	.	.	.	.	G	59	35.997119	0.99983	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	5.86	4.99	0.66335	.	0.243827	0.28977	N	0.013523	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	17.0833	0.86604	0.0:0.1268:0.8732:0.0	.	.	.	.	X	4884;7476;7298;5183;6972;5101;7187	.	ENSP00000244364:Q4884X	Q	-	1	0	DST	56442672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	1.474000	0.48178	0.650000	0.86243	CAA		0.313	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		11	87	0	0	0	0.00499	0	11	87		
KCNQ5	56479	broad.mit.edu	37	6	73787121	73787121	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:73787121C>G	ENST00000370398.1	+	4	802	c.693C>G	c.(691-693)ctC>ctG	p.L231L	KCNQ5_ENST00000403813.2_Silent_p.L231L|KCNQ5_ENST00000370392.1_Silent_p.L231L|KCNQ5_ENST00000414165.2_Silent_p.L231L|KCNQ5_ENST00000355194.4_Silent_p.L231L|KCNQ5_ENST00000342056.2_Silent_p.L231L|KCNQ5_ENST00000355635.3_Silent_p.L231L|KCNQ5_ENST00000402622.2_Silent_p.L231L	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	231					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	CGTCTGCACTCAGAAGTCTCC	0.463																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(691-693)CTC>CTG		potassium voltage-gated channel, KQT-like							104.0	97.0	99.0					6																	73787121		2203	4300	6503	SO:0001819	synonymous_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73787121C>G	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.693C>G	6.37:g.73787121C>G						KCNQ5_uc003pgj.3_Silent_p.L231L|KCNQ5_uc011dyh.1_Silent_p.L231L|KCNQ5_uc011dyi.1_Silent_p.L231L|KCNQ5_uc010kat.2_Silent_p.L231L|KCNQ5_uc011dyj.1_Silent_p.L231L|KCNQ5_uc011dyk.1_5'UTR	p.L231L	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	4	1040	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	231			Helical; Voltage-sensor; Name=Segment S4; (Potential).		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	c.693C>G	CCDS4976.1																																																																																				0.463	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3		NM_019842		7	61	0	0	0	0.004482	0	7	61		
MMS22L	253714	broad.mit.edu	37	6	97613184	97613184	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:97613184C>T	ENST00000275053.4	-	21	3424	c.3159G>A	c.(3157-3159)ttG>ttA	p.L1053L	MMS22L_ENST00000369251.2_Silent_p.L1013L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1053					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTGTGTTTCTCAATGCCAGCA	0.363																																						uc003ppb.2		NaN																	0					0						c.(3157-3159)TTG>TTA		hypothetical protein LOC253714							106.0	106.0	106.0					6																	97613184		2203	4300	6503	SO:0001819	synonymous_variant	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97613184C>T		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3159G>A	6.37:g.97613184C>T						C6orf167_uc011eaf.1_Silent_p.L1013L	p.L1053L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	21	3425	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	1053					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	ENST00000275053.4	37	c.3159G>A	CCDS5039.1																																																																																				0.363	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3		NM_198468		18	97	0	0	0	0.00278	0	18	97		
REV3L	5980	broad.mit.edu	37	6	111702567	111702567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:111702567G>A	ENST00000358835.3	-	11	1631	c.1177C>T	c.(1177-1179)Cag>Tag	p.Q393*	REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q393*|REV3L_ENST00000435970.1_Nonsense_Mutation_p.Q315*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q393*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	393					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)		GTCAAAGGCTGAAAAGTCTGA	0.343								DNA polymerases (catalytic subunits)																														uc003puy.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(1177-1179)CAG>TAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							111.0	109.0	110.0					6																	111702567		2203	4299	6502	SO:0001587	stop_gained	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.chr6:111702567G>A	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.1177C>T	6.37:g.111702567G>A	ENSP00000351697:p.Gln393*					REV3L_uc003pux.3_Nonsense_Mutation_p.Q315*|REV3L_uc003puz.3_Nonsense_Mutation_p.Q315*	p.Q393*	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	10	1500	-		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)	393					O43214|Q5TC33	Nonsense_Mutation	SNP	ENST00000358835.3	37	c.1177C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	45	11.492477	0.99568	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	.	.	.	4.85	4.85	0.62838	.	0.212125	0.34725	N	0.003730	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	18.3301	0.90265	0.0:0.0:1.0:0.0	.	.	.	.	X	393;393;393;315	.	ENSP00000351697:Q393X	Q	-	1	0	REV3L	111809260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.512000	0.90538	2.404000	0.81709	0.591000	0.81541	CAG		0.343	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1		NM_002912		5	75	0	0	0	0.000602	0	5	75		
LAMA4	3910	broad.mit.edu	37	6	112512903	112512903	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:112512903C>G	ENST00000230538.7	-	6	1050	c.653G>C	c.(652-654)gGa>gCa	p.G218A	LAMA4_ENST00000424408.2_Missense_Mutation_p.G218A|LAMA4_ENST00000524032.1_5'Flank|LAMA4_ENST00000389463.4_Missense_Mutation_p.G218A|LAMA4_ENST00000522006.1_Missense_Mutation_p.G218A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	218	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACACTTGAATCCGGTGGTGTT	0.488																																						uc003pvu.2		NaN																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(652-654)GGA>GCA		laminin, alpha 4 isoform 1 precursor							98.0	83.0	88.0					6																	112512903		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112512903C>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.653G>C	6.37:g.112512903C>G	ENSP00000230538:p.Gly218Ala					LAMA4_uc003pvv.2_Missense_Mutation_p.G218A|LAMA4_uc003pvt.2_Missense_Mutation_p.G218A	p.G218A	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	6	962	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	218			Laminin EGF-like 3.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.653G>C	CCDS43491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.158900|5.158900	0.94686|0.94686	.|.	.|.	ENSG00000112769|ENSG00000112769	ENST00000368640|ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588	.|D;D;D;D;D	.|0.90324	.|-2.65;-2.65;-2.65;-2.65;-2.65	5.7|5.7	5.7|5.7	0.88788|0.88788	.|EGF-like, laminin (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97685|0.97685	0.9241|0.9241	H|H	0.98901|0.98901	4.365|4.365	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.98945|0.98945	1.0792|1.0792	5|10	.|0.87932	.|D	.|0	.|.	19.8411|19.8411	0.96685|0.96685	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|218;218	.|Q16363;Q16363-2	.|LAMA4_HUMAN;.	H|A	22|218	.|ENSP00000230538:G218A;ENSP00000429488:G218A;ENSP00000374114:G218A;ENSP00000416470:G218A;ENSP00000430336:G218A	.|ENSP00000230538:G218A	D|G	-|-	1|2	0|0	LAMA4|LAMA4	112619596|112619596	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.859000|0.859000	0.49053|0.49053	7.452000|7.452000	0.80683|0.80683	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.488	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2		NM_001105206		4	51	0	0	0	0.009096	0	4	51		
GPRC6A	222545	broad.mit.edu	37	6	117128367	117128367	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:117128367C>T	ENST00000310357.3	-	3	522	c.501G>A	c.(499-501)gtG>gtA	p.V167V	GPRC6A_ENST00000368549.3_Silent_p.V167V|GPRC6A_ENST00000530250.1_Silent_p.V167V	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	167					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATTCATAACCCACCTGGAAAT	0.383																																						uc003pxj.1		NaN																	0				ovary(4)|skin(2)	6						c.(499-501)GTG>GTA		G protein-coupled receptor, family C, group 6,							68.0	74.0	72.0					6																	117128367		2203	4299	6502	SO:0001819	synonymous_variant	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117128367C>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.501G>A	6.37:g.117128367C>T						GPRC6A_uc003pxk.1_Silent_p.V167V|GPRC6A_uc003pxl.1_Silent_p.V167V	p.V167V	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	3	523	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	167			Extracellular (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	ENST00000310357.3	37	c.501G>A	CCDS5112.1																																																																																				0.383	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2				5	80	0	0	0	0.001984	0	5	80		
PTPRK	5796	broad.mit.edu	37	6	128326289	128326289	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:128326289G>C	ENST00000368215.3	-	15	2430	c.2431C>G	c.(2431-2433)Ctg>Gtg	p.L811V	PTPRK_ENST00000368226.4_Missense_Mutation_p.L812V|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.L812V|PTPRK_ENST00000368207.3_Missense_Mutation_p.L822V|PTPRK_ENST00000532331.1_Missense_Mutation_p.L812V|PTPRK_ENST00000368227.3_Missense_Mutation_p.L812V|PTPRK_ENST00000368210.3_Missense_Mutation_p.L812V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	811					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCTGCATGCAGAGTGCTCTGA	0.393																																						uc003qbk.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(2431-2433)CTG>GTG		protein tyrosine phosphatase, receptor type, K							119.0	101.0	107.0					6																	128326289		2203	4299	6502	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128326289G>C	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2431C>G	6.37:g.128326289G>C	ENSP00000357198:p.Leu811Val					PTPRK_uc003qbj.2_Missense_Mutation_p.L812V|PTPRK_uc010kfc.2_Missense_Mutation_p.L812V|PTPRK_uc011ebu.1_Missense_Mutation_p.L812V|PTPRK_uc003qbl.1_Missense_Mutation_p.L706V|PTPRK_uc011ebv.1_Missense_Mutation_p.L822V|PTPRK_uc010kfd.1_Missense_Mutation_p.L25V	p.L811V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	15	2798	-			811			Cytoplasmic (Potential).		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.2431C>G		.	.	.	.	.	.	.	.	.	.	G	6.979	0.550636	0.13374	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000415055;ENST00000427676	T;T;T;T;T;T;T;T	0.11063	3.06;3.02;3.03;3.06;3.02;3.06;3.03;2.81	5.87	2.94	0.34122	.	0.146048	0.46758	D	0.000262	T	0.12518	0.0304	M	0.65975	2.015	0.40357	D	0.979202	B;D;D;D;B;B	0.89917	0.037;0.999;0.998;1.0;0.018;0.03	B;D;D;D;B;B	0.91635	0.042;0.979;0.978;0.999;0.034;0.075	T	0.15723	-1.0427	10	0.18276	T	0.48	.	7.1129	0.25401	0.1382:0.0:0.6218:0.24	.	822;812;812;693;811;812	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	V	812;812;812;812;812;811;822;55;693	ENSP00000357209:L812V;ENSP00000357210:L812V;ENSP00000432973:L812V;ENSP00000357196:L812V;ENSP00000357193:L812V;ENSP00000357198:L811V;ENSP00000357190:L822V;ENSP00000408180:L55V	ENSP00000357190:L822V	L	-	1	2	PTPRK	128367982	1.000000	0.71417	0.765000	0.31456	0.986000	0.74619	4.152000	0.58111	0.301000	0.22738	-0.355000	0.07637	CTG		0.393	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1				7	54	0	0	0	0.00308	0	7	54		
SAMD3	154075	broad.mit.edu	37	6	130505642	130505642	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:130505642C>A	ENST00000368134.2	-	8	1118	c.510G>T	c.(508-510)atG>atT	p.M170I	SAMD3_ENST00000457563.2_Missense_Mutation_p.M194I|SAMD3_ENST00000437477.2_Missense_Mutation_p.M170I|SAMD3_ENST00000439090.2_Missense_Mutation_p.M170I|SAMD3_ENST00000324172.6_Missense_Mutation_p.M170I|SAMD3_ENST00000532763.1_Missense_Mutation_p.M168I|SAMD3_ENST00000533296.1_5'UTR	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	170										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TCCTTATCCTCATGCTGTGAT	0.468																																						uc003qbv.2		NaN																	0				ovary(1)	1						c.(508-510)ATG>ATT		sterile alpha motif domain containing 3 isoform							133.0	113.0	120.0					6																	130505642		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130505642C>A	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.510G>T	6.37:g.130505642C>A	ENSP00000357116:p.Met170Ile					SAMD3_uc003qbx.2_Missense_Mutation_p.M170I|SAMD3_uc003qbw.2_Missense_Mutation_p.M170I|SAMD3_uc010kfg.1_Missense_Mutation_p.M170I|SAMD3_uc003qby.2_Missense_Mutation_p.M170I|SAMD3_uc003qbz.1_Missense_Mutation_p.M129I	p.M170I	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	7	836	-			170					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.510G>T	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273390	0.59649	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544	T;T;T;T;T;T;T;T	0.52983	0.91;0.9;0.91;0.91;0.84;0.72;0.73;0.64	5.67	5.67	0.87782	.	0.186046	0.49305	D	0.000145	T	0.33585	0.0868	L	0.52364	1.645	0.43588	D	0.995936	B;B;B;B	0.26318	0.031;0.146;0.012;0.018	B;B;B;B	0.21708	0.023;0.034;0.036;0.023	T	0.22871	-1.0204	10	0.66056	D	0.02	.	17.9321	0.89000	0.0:1.0:0.0:0.0	.	194;169;170;170	B4DY20;Q4VXD9;Q8N6K7-2;Q8N6K7	.;.;.;SAMD3_HUMAN	I	170;194;170;170;168;170;169;170	ENSP00000357116:M170I;ENSP00000402092:M194I;ENSP00000403565:M170I;ENSP00000391163:M170I;ENSP00000436088:M168I;ENSP00000324874:M170I;ENSP00000436115:M169I;ENSP00000435875:M170I	ENSP00000324874:M170I	M	-	3	0	SAMD3	130547335	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.034000	0.64152	2.662000	0.90505	0.655000	0.94253	ATG		0.468	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3		NM_152552		8	54	1	0	0.000274275	0.004482	0.000283733	8	54		
SAMD3	154075	broad.mit.edu	37	6	130505656	130505656	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:130505656G>T	ENST00000368134.2	-	8	1104	c.496C>A	c.(496-498)Ccg>Acg	p.P166T	SAMD3_ENST00000457563.2_Missense_Mutation_p.P190T|SAMD3_ENST00000437477.2_Missense_Mutation_p.P166T|SAMD3_ENST00000439090.2_Missense_Mutation_p.P166T|SAMD3_ENST00000324172.6_Missense_Mutation_p.P166T|SAMD3_ENST00000532763.1_Missense_Mutation_p.P164T|SAMD3_ENST00000533296.1_5'UTR	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	166										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CTGTGATCCGGGCACTTCTGC	0.453																																						uc003qbv.2		NaN																	0				ovary(1)	1						c.(496-498)CCG>ACG		sterile alpha motif domain containing 3 isoform							131.0	113.0	119.0					6																	130505656		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130505656G>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.496C>A	6.37:g.130505656G>T	ENSP00000357116:p.Pro166Thr					SAMD3_uc003qbx.2_Missense_Mutation_p.P166T|SAMD3_uc003qbw.2_Missense_Mutation_p.P166T|SAMD3_uc010kfg.1_Missense_Mutation_p.P166T|SAMD3_uc003qby.2_Missense_Mutation_p.P166T|SAMD3_uc003qbz.1_Missense_Mutation_p.P125T	p.P166T	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	7	822	-			166					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.496C>A	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895105	0.52121	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.69435	0.84;0.82;0.84;0.84;0.83;-0.13;-0.12;-0.4;-0.19	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000002	T	0.79534	0.4462	M	0.73598	2.24	0.48901	D	0.999724	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.997;0.998;0.996	T	0.81286	-0.1001	10	0.87932	D	0	.	17.9321	0.89000	0.0:0.0:1.0:0.0	.	190;165;166;166	B4DY20;Q4VXD9;Q8N6K7-2;Q8N6K7	.;.;.;SAMD3_HUMAN	T	166;190;166;166;164;166;165;166;163	ENSP00000357116:P166T;ENSP00000402092:P190T;ENSP00000403565:P166T;ENSP00000391163:P166T;ENSP00000436088:P164T;ENSP00000324874:P166T;ENSP00000436115:P165T;ENSP00000435875:P166T;ENSP00000434139:P163T	ENSP00000324874:P166T	P	-	1	0	SAMD3	130547349	1.000000	0.71417	0.997000	0.53966	0.171000	0.22731	6.390000	0.73204	2.662000	0.90505	0.655000	0.94253	CCG		0.453	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3		NM_152552		5	57	1	0	1.23904e-05	0.000602	1.30654e-05	5	57		
ENPP1	5167	broad.mit.edu	37	6	132201159	132201159	+	Silent	SNP	T	T	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:132201159T>C	ENST00000360971.2	+	20	2105	c.2085T>C	c.(2083-2085)taT>taC	p.Y695Y		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	695	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GGACATCCTATACCGTGGACA	0.403																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)	4						c.(2083-2085)TAT>TAC		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						222.0	203.0	210.0					6																	132201159		2203	4300	6503	SO:0001819	synonymous_variant	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132201159T>C	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2085T>C	6.37:g.132201159T>C							p.Y695Y	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	20	2105	+	Breast(56;0.0505)		695			Nuclease.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	ENST00000360971.2	37	c.2085T>C	CCDS5150.2																																																																																				0.403	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2				42	192	0	0	0	0.01441	0	42	192		
PEX7	5191	broad.mit.edu	37	6	137167279	137167279	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:137167279C>G	ENST00000318471.4	+	5	567	c.486C>G	c.(484-486)atC>atG	p.I162M	PEX7_ENST00000541292.1_Missense_Mutation_p.I162M	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	162					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		ATAGCACAATCTGGTCTCCCC	0.388																																						uc003qhd.2		NaN																	0					0						c.(484-486)ATC>ATG		peroxisomal biogenesis factor 7							132.0	117.0	122.0					6																	137167279		2203	4300	6503	SO:0001583	missense	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137167279C>G	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.486C>G	6.37:g.137167279C>G	ENSP00000315680:p.Ile162Met					PEX7_uc010kgx.2_RNA	p.I162M	NM_000288	NP_000279	O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	5	588	+	Colorectal(23;0.24)		162			WD 3.		C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	c.486C>G	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995956	0.35226	.	.	ENSG00000112357	ENST00000541292;ENST00000318471	T;T	0.60040	0.22;0.22	5.65	3.87	0.44632	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046952	0.85682	D	0.000000	T	0.47097	0.1427	L	0.28400	0.85	0.42474	D	0.992839	D	0.69078	0.997	D	0.71414	0.973	T	0.53578	-0.8419	10	0.54805	T	0.06	-37.1727	5.9196	0.19073	0.2473:0.5954:0.0:0.1573	.	162	O00628	PEX7_HUMAN	M	162	ENSP00000441004:I162M;ENSP00000315680:I162M	ENSP00000315680:I162M	I	+	3	3	PEX7	137208972	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.741000	0.26202	0.736000	0.32559	0.591000	0.81541	ATC		0.388	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2		NM_000288		5	64	0	0	0	0.001984	0	5	64		
FUCA2	2519	broad.mit.edu	37	6	143828485	143828485	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:143828485C>T	ENST00000002165.6	-	2	356	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|FUCA2_ENST00000438118.2_Missense_Mutation_p.E101K|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|FUCA2_ENST00000367585.1_5'UTR|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	101					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CCAAAATCTTCATATTTGAAA	0.373																																						uc003qjm.2		NaN																	0				ovary(1)	1						c.(301-303)GAA>AAA		fucosidase, alpha-L- 2, plasma precursor							110.0	124.0	119.0					6																	143828485		2203	4300	6503	SO:0001583	missense	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143828485C>T	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.301G>A	6.37:g.143828485C>T	ENSP00000002165:p.Glu101Lys						p.E101K	NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	2	393	-			101					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	c.301G>A	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298874	0.60195	.	.	ENSG00000001036	ENST00000002165;ENST00000438118;ENST00000367585	T;T;T	0.56776	0.44;0.44;0.44	5.21	5.21	0.72293	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.264900	0.43579	D	0.000560	T	0.24044	0.0582	N	0.21282	0.65	0.46564	D	0.999102	B	0.26708	0.157	B	0.33121	0.158	T	0.17899	-1.0354	10	0.02654	T	1	-10.0174	18.9402	0.92602	0.0:1.0:0.0:0.0	.	101	Q9BTY2	FUCO2_HUMAN	K	101	ENSP00000002165:E101K;ENSP00000394151:E101K;ENSP00000356557:E101K	ENSP00000002165:E101K	E	-	1	0	FUCA2	143870178	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.062000	0.49971	2.698000	0.92095	0.655000	0.94253	GAA		0.373	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2		NM_032020		8	128	0	0	0	0.008291	0	8	128		
SYNE1	23345	broad.mit.edu	37	6	152702384	152702384	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:152702384C>G	ENST00000367255.5	-	56	9367	c.8766G>C	c.(8764-8766)gaG>gaC	p.E2922D	SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2929D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2922D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2961D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2929D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2922					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGCCTGCATCTCCGTGTGCA	0.577										HNSCC(10;0.0054)																												uc010kiw.2		NaN																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(8764-8766)GAG>GAC		spectrin repeat containing, nuclear envelope 1							109.0	105.0	106.0					6																	152702384		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152702384C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8766G>C	6.37:g.152702384C>G	ENSP00000356224:p.Glu2922Asp	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E2929D|SYNE1_uc003qou.3_Missense_Mutation_p.E2922D|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_5'UTR|SYNE1_uc010kjb.1_Missense_Mutation_p.E2905D	p.E2922D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	56	9368	-		Ovarian(120;0.0955)	2922			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.8766G>C	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.423109|4.423109	0.83559|0.83559	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000454018	T;T;T;T;T|.	0.63744|.	0.0;0.01;-0.06;0.03;0.28|.	6.01|6.01	5.14|5.14	0.70334|0.70334	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.55033|0.55033	0.1895|0.1895	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.996;0.998;0.998;0.999|.	P;P;P;D|.	0.66979|.	0.875;0.888;0.888;0.948|.	T|T	0.59815|0.59815	-0.7383|-0.7383	10|5	0.49607|.	T|.	0.09|.	.|.	9.4588|9.4588	0.38772|0.38772	0.0:0.7895:0.0:0.2105|0.0:0.7895:0.0:0.2105	.|.	2905;2922;2922;2929|.	B3W695;Q8NF91;E7EQI5;Q8NF91-4|.	.;SYNE1_HUMAN;.;.|.	D|T	2922;2929;2922;2929;2961|39	ENSP00000356224:E2922D;ENSP00000396024:E2929D;ENSP00000265368:E2922D;ENSP00000390975:E2929D;ENSP00000341887:E2961D|.	ENSP00000265368:E2922D|.	E|R	-|-	3|2	2|0	SYNE1|SYNE1	152744077|152744077	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.735000|3.735000	0.55044|0.55044	1.552000|1.552000	0.49463|0.49463	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.577	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961		11	146	0	0	0	0.00245	0	11	146		
SLC22A1	6580	broad.mit.edu	37	6	160555032	160555032	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:160555032C>T	ENST00000366963.4	+	4	861	c.714C>T	c.(712-714)atC>atT	p.I238I	SLC22A1_ENST00000324965.4_Silent_p.I238I|SLC22A1_ENST00000457470.2_Silent_p.I238I	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	238					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	CGGTGGCGATCATGTACCAGA	0.632																																						uc003qtc.2		NaN																	0					0						c.(712-714)ATC>ATT		solute carrier family 22 member 1 isoform a							114.0	98.0	104.0					6																	160555032		2203	4300	6503	SO:0001819	synonymous_variant	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160555032C>T	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.714C>T	6.37:g.160555032C>T						SLC22A1_uc003qtd.2_Silent_p.I238I	p.I238I	NM_003057	NP_003048	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	4	819	+		Breast(66;0.000776)|Ovarian(120;0.00556)	238			Helical; (Potential).		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Silent	SNP	ENST00000366963.4	37	c.714C>T	CCDS5274.1																																																																																				0.632	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2				5	66	0	0	0	0.001984	0	5	66		
LPA	4018	broad.mit.edu	37	6	160978430	160978430	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:160978430G>C	ENST00000316300.5	-	29	4849	c.4805C>G	c.(4804-4806)tCt>tGt	p.S1602C	LPA_ENST00000447678.1_Missense_Mutation_p.S1602C			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4110	Kringle 14. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACCTGCTTCAGAATGAGCCTC	0.458																																						uc003qtl.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(4804-4806)TCT>TGT		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						123.0	116.0	118.0					6																	160978430		1955	4181	6136	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160978430G>C	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4805C>G	6.37:g.160978430G>C	ENSP00000321334:p.Ser1602Cys						p.S1602C	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	30	4925	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4110			Kringle 36.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4805C>G	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	10.63	1.404270	0.25378	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.87650	-2.28;-2.28	2.56	1.67	0.24075	Kringle (1);	.	.	.	.	D	0.85017	0.5601	L	0.60455	1.87	0.09310	N	1	D	0.58268	0.982	D	0.69479	0.964	T	0.74450	-0.3661	9	0.72032	D	0.01	.	5.1791	0.15150	0.1774:0.0:0.8226:0.0	.	4110	P08519	APOA_HUMAN	C	1602	ENSP00000321334:S1602C;ENSP00000395608:S1602C	ENSP00000321334:S1602C	S	-	2	0	LPA	160898420	0.058000	0.20735	0.001000	0.08648	0.005000	0.04900	3.061000	0.49963	0.392000	0.25172	0.436000	0.28706	TCT		0.458	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1		NM_005577		7	111	0	0	0	0.006214	0	7	111		
THBS2	7058	broad.mit.edu	37	6	169623568	169623568	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:169623568C>A	ENST00000366787.3	-	19	3025	c.2776G>T	c.(2776-2778)Gat>Tat	p.D926Y	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'Flank	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	926					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCCCGTCCATCACCTATGCAC	0.398																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NaN																	0				ovary(5)	5						c.(2776-2778)GAT>TAT		thrombospondin 2 precursor							89.0	82.0	85.0					6																	169623568		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169623568C>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2776G>T	6.37:g.169623568C>A	ENSP00000355751:p.Asp926Tyr						p.D926Y	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	19	3024	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	926			TSP type-3 8.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2776G>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759243	0.49468	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.99586	-6.23	4.73	4.73	0.59995	.	0.000000	0.42172	U	0.000741	D	0.99732	0.9895	M	0.92649	3.33	0.54753	D	0.999985	D	0.89917	1.0	D	0.97110	1.0	D	0.97247	0.9895	10	0.87932	D	0	-36.4783	17.7107	0.88321	0.0:1.0:0.0:0.0	.	926	P35442	TSP2_HUMAN	Y	926;184	ENSP00000355751:D926Y	ENSP00000355751:D926Y	D	-	1	0	THBS2	169365493	1.000000	0.71417	0.971000	0.41717	0.297000	0.27493	5.574000	0.67424	2.150000	0.67090	0.471000	0.43371	GAT		0.398	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1		NM_003247		6	85	1	0	3.59834e-05	0.001168	3.77448e-05	6	85		
AHR	196	broad.mit.edu	37	7	17382607	17382607	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:17382607G>C	ENST00000242057.4	+	11	3109	c.2466G>C	c.(2464-2466)caG>caC	p.Q822H		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	822				LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857). {ECO:0000305}.	apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	ATAACACTCAGACTACCACAC	0.368																																						uc011jxz.1		NaN																	0				urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(2464-2466)CAG>CAC		aryl hydrocarbon receptor precursor							193.0	182.0	185.0					7																	17382607		2203	4300	6503	SO:0001583	missense	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17382607G>C	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2466G>C	7.37:g.17382607G>C	ENSP00000242057:p.Gln822His					AHR_uc003stt.3_RNA	p.Q822H	NM_001621	NP_001612	P35869	AHR_HUMAN			11	3079	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		822	LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857).				A4D130|Q13728|Q13803|Q13804	Missense_Mutation	SNP	ENST00000242057.4	37	c.2466G>C	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	4.994	0.184595	0.09495	.	.	ENSG00000106546	ENST00000242057	T	0.50001	0.76	4.92	4.04	0.47022	.	0.542144	0.19216	N	0.119809	T	0.49287	0.1548	M	0.71581	2.175	0.09310	N	1	P	0.44344	0.833	P	0.44447	0.45	T	0.47249	-0.9132	10	0.52906	T	0.07	.	8.5653	0.33536	0.2367:0.0:0.7633:0.0	.	822	P35869	AHR_HUMAN	H	822	ENSP00000242057:Q822H	ENSP00000242057:Q822H	Q	+	3	2	AHR	17349132	0.711000	0.27906	0.010000	0.14722	0.062000	0.15995	1.847000	0.39299	1.378000	0.46305	0.655000	0.94253	CAG		0.368	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2		NM_001621		45	149	0	0	0	0.01441	0	45	149		
NPSR1	387129	broad.mit.edu	37	7	34917785	34917785	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:34917785C>T	ENST00000359791.1	+	9	1251	c.1123C>T	c.(1123-1125)Ctt>Ttt	p.L375F	NPSR1_ENST00000531252.1_Missense_Mutation_p.L364F	NM_207173.1	NP_997056.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	0						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTCCTGGGCTCTTCCAAGGTG	0.592																																						uc003tei.1		NaN																	0				skin(3)|pancreas(1)	4						c.(1123-1125)CTT>TTT		G protein-coupled receptor for asthma	Halothane(DB01159)						66.0	51.0	56.0					7																	34917785		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34917785C>T	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000359791.1:c.1123C>T	7.37:g.34917785C>T	ENSP00000352839:p.Leu375Phe					NPSR1_uc010kww.1_Missense_Mutation_p.L364F|NPSR1_uc011kar.1_Missense_Mutation_p.L309F	p.L375F	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN			9	1251	+			Error:Variant_position_missing_in_Q6W5P4_after_alignment					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000359791.1	37	c.1123C>T	CCDS5443.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459014	0.43634	.	.	ENSG00000187258	ENST00000359791;ENST00000531252	T;T	0.74002	-0.8;-0.42	2.37	1.45	0.22620	.	.	.	.	.	T	0.54159	0.1841	N	0.08118	0	0.09310	N	1	B;B;B	0.30664	0.191;0.289;0.289	B;B;B	0.35607	0.102;0.206;0.206	T	0.48422	-0.9037	9	0.40728	T	0.16	.	6.7997	0.23744	0.0:0.6698:0.3302:0.0	.	309;364;375	B7ZMA2;Q6W5P4-5;Q6W5P4-4	.;.;.	F	375;364	ENSP00000352839:L375F;ENSP00000433258:L364F	ENSP00000352839:L375F	L	+	1	0	NPSR1	34884310	0.000000	0.05858	0.003000	0.11579	0.249000	0.25844	0.568000	0.23623	0.528000	0.28580	0.514000	0.50259	CTT		0.592	NPSR1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216838.1		NM_207173		4	17	0	0	0	0.009096	0	4	17		
TRGC1	6966	broad.mit.edu	37	7	38304969	38304969	+	RNA	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:38304969G>C	ENST00000443402.2	-	0	310					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TTGGAGGAAAGATAATTTCTT	0.348																																						uc003tge.1		NaN																	0					0						c.(736-738)ATC>ATG		Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.							127.0	119.0	121.0					7																	38304969		1839	4094	5933			445347							g.chr7:38304969G>C	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38304969G>C						uc003tfz.1_Intron|TARP_uc003tgb.2_Missense_Mutation_p.I42M|TARP_uc003tgc.1_Missense_Mutation_p.I42M|TARP_uc003tgd.1_Missense_Mutation_p.I42M|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA	p.I246M			A2JGV3	A2JGV3_HUMAN			5	1115	-			Error:Variant_position_missing_in_A2JGV3_after_alignment						Missense_Mutation	SNP	ENST00000443402.2	37	c.738C>G																																																																																					0.348	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3		NG_001336		4	33	0	0	0	0.009096	0	4	33		
PKD1L1	168507	broad.mit.edu	37	7	47898448	47898448	+	Silent	SNP	G	G	A	rs539504723		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:47898448G>A	ENST00000289672.2	-	27	4235	c.4185C>T	c.(4183-4185)taC>taT	p.Y1395Y		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1395	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTGCCCGGGTGTACTTGAGGA	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18577	0.0		0.0	False		,,,				2504	0.0					uc003tny.1		NaN																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(4183-4185)TAC>TAT		polycystin-1L1							66.0	62.0	63.0					7																	47898448		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47898448G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4185C>T	7.37:g.47898448G>A							p.Y1395Y	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			27	4185	-			1395			Extracellular (Potential).|REJ.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.4185C>T	CCDS34633.1																																																																																				0.502	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1		NM_138295		3	49	0	0	0	0.009096	0	3	49		
ZNF727	442319	broad.mit.edu	37	7	63538396	63538396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:63538396G>A	ENST00000550760.3	+	4	1148	c.969G>A	c.(967-969)tgG>tgA	p.W323*	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	323					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(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						CTTTTATGTGGATCTCGGCCC	0.388																																						uc011kdm.1		NaN																	0					0						c.(967-969)TGG>TGA		zinc finger protein 727							41.0	39.0	40.0					7																	63538396		692	1591	2283	SO:0001587	stop_gained	442319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63538396G>A			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.969G>A	7.37:g.63538396G>A	ENSP00000447987:p.Trp323*						p.W323*	NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN			4	1148	+			323			C2H2-type 6.			Nonsense_Mutation	SNP	ENST00000550760.3	37	c.969G>A	CCDS55113.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131394	0.37630	.	.	ENSG00000257482	ENST00000550760	.	.	.	1.02	-2.05	0.07321	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.5804	0.04816	0.2142:0.0:0.4165:0.3693	.	.	.	.	X	323	.	.	W	+	3	0	ZNF727	63175831	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.789000	0.00053	-1.221000	0.02591	-1.218000	0.01608	TGG		0.388	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001159522		3	31	0	0	0	0.004672	0	3	31		
TPST1	8460	broad.mit.edu	37	7	65705934	65705934	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:65705934C>T	ENST00000304842.5	+	2	947	c.522C>T	c.(520-522)ttC>ttT	p.F174F	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	174					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTAGGTTATTCCCCAATGCCA	0.398																																						uc003tuw.2		NaN																	0					0						c.(520-522)TTC>TTT		tyrosylprotein sulfotransferase 1							54.0	55.0	55.0					7																	65705934		2203	4300	6503	SO:0001819	synonymous_variant	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65705934C>T	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.522C>T	7.37:g.65705934C>T						TPST1_uc010kzy.2_Intron|TPST1_uc010kzz.2_Silent_p.F174F|TPST1_uc010laa.2_Silent_p.F174F	p.F174F	NM_003596	NP_003587	O60507	TPST1_HUMAN			2	874	+			174			Lumenal (Potential).		A4D2M0|Q6FGM7	Silent	SNP	ENST00000304842.5	37	c.522C>T	CCDS5533.1																																																																																				0.398	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2		NM_003596		5	68	0	0	0	0.000602	0	5	68		
BAZ1B	9031	broad.mit.edu	37	7	72891929	72891929	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:72891929G>C	ENST00000339594.4	-	7	2200	c.1862C>G	c.(1861-1863)tCt>tGt	p.S621C	BAZ1B_ENST00000404251.1_Missense_Mutation_p.S621C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	621	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGTAGCCCAGAATAACAGCT	0.478																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(1861-1863)TCT>TGT		bromodomain adjacent to zinc finger domain, 1B							68.0	70.0	70.0					7																	72891929		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72891929G>C	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1862C>G	7.37:g.72891929G>C	ENSP00000342434:p.Ser621Cys						p.S621C	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			7	2207	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	621			DDT.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.1862C>G	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667185	0.67814	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.60424	0.19;0.19	5.82	5.82	0.92795	DDT domain superfamily (1);DDT domain, subgroup (1);	0.160888	0.56097	D	0.000023	T	0.55433	0.1920	N	0.14661	0.345	0.54753	D	0.999984	D	0.71674	0.998	P	0.53185	0.72	T	0.59736	-0.7398	10	0.52906	T	0.07	-19.7787	19.0882	0.93215	0.0:0.0:1.0:0.0	.	621	Q9UIG0	BAZ1B_HUMAN	C	621	ENSP00000342434:S621C;ENSP00000385442:S621C	ENSP00000342434:S621C	S	-	2	0	BAZ1B	72529865	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.359000	0.79477	2.760000	0.94817	0.655000	0.94253	TCT		0.478	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4		NM_032408		5	59	0	0	0	0.000602	0	5	59		
PCLO	27445	broad.mit.edu	37	7	82579161	82579161	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:82579161C>T	ENST00000333891.9	-	6	11080	c.10743G>A	c.(10741-10743)ctG>ctA	p.L3581L	PCLO_ENST00000437081.1_Silent_p.L301L|PCLO_ENST00000423517.2_Silent_p.L3581L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGTGGCACTCAGATATTGAG	0.438																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(10741-10743)CTG>CTA		piccolo isoform 1							166.0	163.0	164.0					7																	82579161		2070	4208	6278	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579161C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10743G>A	7.37:g.82579161C>T						PCLO_uc003uhv.2_Silent_p.L3581L|PCLO_uc010lec.2_Silent_p.L546L	p.L3581L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	11032	-			3512						Silent	SNP	ENST00000333891.9	37	c.10743G>A	CCDS47630.1																																																																																				0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		7	52	0	0	0	0.001984	0	7	52		
GRM3	2913	broad.mit.edu	37	7	86469220	86469220	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:86469220G>A	ENST00000361669.2	+	4	3489	c.2390G>A	c.(2389-2391)aGa>aAa	p.R797K	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Splice_Site_p.R389K|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Splice_Site_p.R669K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	797					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AGTGACTACAGAGTAAGTCTT	0.353																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NaN																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(2389-2391)AGA>AAA		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						80.0	77.0	78.0					7																	86469220		2203	4292	6495	SO:0001630	splice_region_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86469220G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2391+1G>A	7.37:g.86469220G>A						GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.R669K|GRM3_uc010leh.2_Missense_Mutation_p.R389K	p.R797K	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	3489	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		797			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2390G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596358	0.46318	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.87491	-2.26;-2.16;-2.04	5.39	5.39	0.77823	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	N	0.05306	-0.075	0.80722	D	1	B;D;D	0.71674	0.379;0.997;0.998	B;D;D	0.76575	0.326;0.98;0.988	T	0.78853	-0.2040	10	0.02654	T	1	.	18.1356	0.89618	0.0:0.0:1.0:0.0	.	389;669;797	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	K	797;389;669	ENSP00000355316:R797K;ENSP00000444064:R389K;ENSP00000441407:R669K	ENSP00000355316:R797K	R	+	2	0	GRM3	86307156	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.521000	0.84997	0.563000	0.77884	AGA		0.353	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			Missense_Mutation	5	74	0	0	0	0.001168	0	5	74		
ADAM22	53616	broad.mit.edu	37	7	87757941	87757941	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:87757941G>C	ENST00000265727.7	+	9	782	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q	ADAM22_ENST00000315984.7_Missense_Mutation_p.E235Q|ADAM22_ENST00000398209.3_Missense_Mutation_p.E235Q|ADAM22_ENST00000398201.4_Missense_Mutation_p.E235Q|ADAM22_ENST00000439864.1_Missense_Mutation_p.E235Q|ADAM22_ENST00000398204.4_Missense_Mutation_p.E235Q			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	235					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TCGTAATGTAGAAGAAGAAAC	0.393																																						uc003ujn.2		NaN																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(703-705)GAA>CAA		ADAM metallopeptidase domain 22 isoform 1							232.0	213.0	219.0					7																	87757941		1899	4110	6009	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87757941G>C	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.703G>C	7.37:g.87757941G>C	ENSP00000265727:p.Glu235Gln					ADAM22_uc003uji.1_Missense_Mutation_p.E234Q|ADAM22_uc003ujj.1_Missense_Mutation_p.E235Q|ADAM22_uc003ujk.1_Missense_Mutation_p.E235Q|ADAM22_uc003ujl.1_Missense_Mutation_p.E235Q|ADAM22_uc003ujm.2_Missense_Mutation_p.E235Q|ADAM22_uc003ujo.2_Missense_Mutation_p.E235Q|ADAM22_uc003ujp.1_Missense_Mutation_p.E287Q	p.E235Q	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		9	782	+	Esophageal squamous(14;0.00202)		235			Extracellular (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.703G>C	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081147	0.76528	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T	0.04119	4.5;3.7;4.5;4.49;4.5;4.5;4.5	5.1	5.1	0.69264	.	0.055272	0.64402	D	0.000001	T	0.12860	0.0312	L	0.29908	0.895	0.80722	D	1	B;B;B;D;D;B	0.89917	0.015;0.026;0.015;0.999;1.0;0.015	B;B;B;D;D;B	0.91635	0.045;0.06;0.045;0.989;0.999;0.027	T	0.36744	-0.9735	10	0.21014	T	0.42	.	18.5229	0.90960	0.0:0.0:1.0:0.0	.	287;235;235;235;235;235	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	Q	235;235;235;235;235;235;202	ENSP00000381262:E235Q;ENSP00000391334:E235Q;ENSP00000381260:E235Q;ENSP00000265727:E235Q;ENSP00000315900:E235Q;ENSP00000381267:E235Q;ENSP00000381261:E202Q	ENSP00000265727:E235Q	E	+	1	0	ADAM22	87595877	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.727000	0.68523	2.372000	0.80975	0.655000	0.94253	GAA		0.393	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2		NM_021723		9	133	0	0	0	0.008291	0	9	133		
MCM7	4176	broad.mit.edu	37	7	99695470	99695470	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:99695470C>G	ENST00000303887.5	-	8	1617	c.972G>C	c.(970-972)ctG>ctC	p.L324L	MCM7_ENST00000343023.6_Silent_p.L324L|MCM7_ENST00000354230.3_Silent_p.L148L	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	324					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAATTTGCCTCAGCTCCTCCC	0.493																																						uc003usw.1		NaN																	0					0						c.(970-972)CTG>CTC		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						132.0	123.0	126.0					7																	99695470		2203	4300	6503	SO:0001819	synonymous_variant	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99695470C>G		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.972G>C	7.37:g.99695470C>G						MCM7_uc003usv.1_Silent_p.L148L|MCM7_uc003usx.1_Silent_p.L148L	p.L324L	NM_005916	NP_005907	P33993	MCM7_HUMAN			8	1482	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		324					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Silent	SNP	ENST00000303887.5	37	c.972G>C	CCDS5683.1																																																																																				0.493	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3				10	122	0	0	0	0.010729	0	10	122		
ZCWPW1	55063	broad.mit.edu	37	7	99998716	99998716	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:99998716C>G	ENST00000398027.2	-	18	2115	c.1868G>C	c.(1867-1869)aGa>aCa	p.R623T	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.R452T|ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.R452T	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	623							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCAGCTCTCTCCCAACATC	0.622																																						uc003uut.2		NaN																	0					0						c.(1867-1869)AGA>ACA		zinc finger, CW type with PWWP domain 1							49.0	52.0	51.0					7																	99998716		2045	4205	6250	SO:0001583	missense	55063						zinc ion binding	g.chr7:99998716C>G	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1868G>C	7.37:g.99998716C>G	ENSP00000381109:p.Arg623Thr					ZCWPW1_uc011kjq.1_Missense_Mutation_p.R503T|ZCWPW1_uc003uur.2_3'UTR|ZCWPW1_uc003uus.2_Missense_Mutation_p.R452T|ZCWPW1_uc011kjr.1_3'UTR|ZCWPW1_uc011kjp.1_RNA	p.R623T	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN			18	2116	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		623					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.1868G>C	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556927	0.27827	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000324725	T;T;T	0.48201	0.86;0.82;0.82	4.67	-0.426	0.12314	.	.	.	.	.	T	0.26991	0.0661	N	0.14661	0.345	0.09310	N	1	B;B;B	0.27732	0.118;0.118;0.187	B;B;B	0.29716	0.049;0.049;0.106	T	0.25641	-1.0126	8	.	.	.	0.0922	7.7061	0.28650	0.0:0.5118:0.0:0.4882	.	584;623;452	B4DXS7;Q9H0M4;Q9H0M4-4	.;ZCPW1_HUMAN;.	T	623;452;452	ENSP00000381109:R623T;ENSP00000419187:R452T;ENSP00000314880:R452T	.	R	-	2	0	ZCWPW1	99836652	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.499000	0.06413	-0.144000	0.11314	-0.302000	0.09304	AGA		0.622	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1		NM_017984		5	53	0	0	0	0.00308	0	5	53		
GIGYF1	64599	broad.mit.edu	37	7	100283075	100283075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:100283075G>A	ENST00000275732.5	-	10	2293	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	362					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCTCCTCCTGAGGAGGCAGT	0.627																																						uc003uwg.1		NaN																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1084-1086)CAG>TAG		PERQ amino acid rich, with GYF domain 1							48.0	46.0	47.0					7																	100283075		2203	4300	6503	SO:0001587	stop_gained	64599							g.chr7:100283075G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1084C>T	7.37:g.100283075G>A	ENSP00000275732:p.Gln362*						p.Q362*	NM_022574	NP_072096	O75420	PERQ1_HUMAN			10	2093	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		362					Q6Y7W7|Q8WZ38	Nonsense_Mutation	SNP	ENST00000275732.5	37	c.1084C>T	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	46	12.114917	0.99637	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	.	.	.	5.38	2.52	0.30459	.	1.258460	0.05128	N	0.492126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-0.3012	5.7253	0.18010	0.1744:0.1591:0.6665:0.0	.	.	.	.	X	81;362	.	ENSP00000275732:Q362X	Q	-	1	0	GIGYF1	100121011	0.034000	0.19679	0.009000	0.14445	0.772000	0.43724	0.990000	0.29642	0.361000	0.24292	0.655000	0.94253	CAG		0.627	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2		NM_022574		4	30	0	0	0	0.009096	0	4	30		
MUC17	140453	broad.mit.edu	37	7	100696366	100696366	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:100696366G>A	ENST00000306151.4	+	10	13267	c.13203G>A	c.(13201-13203)ctG>ctA	p.L4401L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4401					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGGTCGTGCTGATGCTGATCA	0.597																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(13201-13203)CTG>CTA		mucin 17 precursor							103.0	84.0	90.0					7																	100696366		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100696366G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13203G>A	7.37:g.100696366G>A						MUC17_uc010lho.1_RNA	p.L4401L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			10	13256	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4401			Helical; (Potential).		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.13203G>A	CCDS34711.1																																																																																				0.597	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		6	47	0	0	0	0.001984	0	6	47		
ORC5	5001	broad.mit.edu	37	7	103848302	103848302	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:103848302G>A	ENST00000297431.4	-	1	193	c.51C>T	c.(49-51)atC>atT	p.I17I	ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000447452.2_Silent_p.I17I|ORC5_ENST00000545943.1_5'UTR	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	17					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGGACTGCAAGATGGACACTT	0.517																																						uc003vcb.2		NaN																	0					0						c.(49-51)ATC>ATT		origin recognition complex subunit 5 isoform 1							115.0	93.0	101.0					7																	103848302		2203	4300	6503	SO:0001819	synonymous_variant	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103848302G>A		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.51C>T	7.37:g.103848302G>A						ORC5L_uc011klp.1_5'UTR|ORC5L_uc003vcc.2_Silent_p.I17I|ORC5L_uc003vcd.2_Silent_p.I17I	p.I17I	NM_002553	NP_002544	O43913	ORC5_HUMAN			1	162	-			17					A4D0P8|O60590|O95268	Silent	SNP	ENST00000297431.4	37	c.51C>T	CCDS5734.1																																																																																				0.517	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1		NM_002553		11	100	0	0	0	0.013537	0	11	100		
LAMB1	3912	broad.mit.edu	37	7	107626630	107626630	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:107626630G>T	ENST00000222399.6	-	6	832	c.602C>A	c.(601-603)aCt>aAt	p.T201N	LAMB1_ENST00000393560.1_Missense_Mutation_p.T201N|LAMB1_ENST00000393561.1_Missense_Mutation_p.T225N	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	201	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CTCTCCTTCAGTTGAGGGTTC	0.378																																						uc003vew.2		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(601-603)ACT>AAT		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						114.0	112.0	113.0					7																	107626630		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107626630G>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.602C>A	7.37:g.107626630G>T	ENSP00000222399:p.Thr201Asn					LAMB1_uc003vev.2_Missense_Mutation_p.T225N|LAMB1_uc003vex.2_Missense_Mutation_p.T201N|LAMB1_uc010ljn.1_Missense_Mutation_p.T287N	p.T201N	NM_002291	NP_002282	P07942	LAMB1_HUMAN			6	937	-			201			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.602C>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818491	0.90790	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.76448	-1.02;-1.02;-1.02	5.85	5.85	0.93711	Laminin, N-terminal (3);	.	.	.	.	D	0.88005	0.6321	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	0.993;0.997;1.0	D;D;D	0.91635	0.956;0.965;0.999	D	0.88070	0.2800	9	0.87932	D	0	.	20.172	0.98160	0.0:0.0:1.0:0.0	.	201;201;225	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	N	225;201;201	ENSP00000377191:T225N;ENSP00000222399:T201N;ENSP00000377190:T201N	ENSP00000222399:T201N	T	-	2	0	LAMB1	107413866	1.000000	0.71417	0.936000	0.37596	0.964000	0.63967	9.869000	0.99810	2.766000	0.95052	0.650000	0.86243	ACT		0.378	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1		NM_002291		13	74	1	0	2.23348e-06	0.004007	2.3845e-06	13	74		
IMMP2L	83943	broad.mit.edu	37	7	110526696	110526696	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:110526696C>T	ENST00000405709.2	-	5	803	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	IMMP2L_ENST00000415362.1_Missense_Mutation_p.E121K|IMMP2L_ENST00000331762.3_Missense_Mutation_p.E121K|IMMP2L_ENST00000450877.1_Missense_Mutation_p.E103K|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Missense_Mutation_p.E121K	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	121					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TGATCACCTTCAACCCAGATG	0.403																																						uc003vfq.1		NaN																	0					0						c.(361-363)GAA>AAA		IMP2 inner mitochondrial membrane protease-like							141.0	128.0	132.0					7																	110526696		2203	4300	6503	SO:0001583	missense	83943				protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	g.chr7:110526696C>T	AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.361G>A	7.37:g.110526696C>T	ENSP00000384966:p.Glu121Lys					IMMP2L_uc010ljr.1_Missense_Mutation_p.E121K	p.E121K	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)	5	804	-			121					Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Missense_Mutation	SNP	ENST00000405709.2	37	c.361G>A	CCDS5753.1	.	.	.	.	.	.	.	.	.	.	C	35	5.495771	0.96355	.	.	ENSG00000184903	ENST00000405709;ENST00000331762;ENST00000452895;ENST00000450877;ENST00000415362	.	.	.	5.58	5.58	0.84498	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);Peptidase S26A, signal peptidase I, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.86146	0.5863	M	0.92691	3.335	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	D	0.87176	0.2224	9	0.42905	T	0.14	-37.9113	19.5511	0.95322	0.0:1.0:0.0:0.0	.	121	Q96T52	IMP2L_HUMAN	K	121;121;121;103;121	.	ENSP00000329553:E121K	E	-	1	0	IMMP2L	110313932	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.378000	0.79679	2.625000	0.88918	0.484000	0.47621	GAA		0.403	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338109.4		NM_032549		6	73	0	0	0	0.00308	0	6	73		
EXOC4	60412	broad.mit.edu	37	7	132973814	132973814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:132973814C>G	ENST00000253861.4	+	3	444	c.415C>G	c.(415-417)Caa>Gaa	p.Q139E	EXOC4_ENST00000393161.2_Missense_Mutation_p.Q139E|EXOC4_ENST00000539845.1_Missense_Mutation_p.Q38E	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	139					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GCAAGTGCCTCAAAAGCTGGA	0.443																																						uc003vrk.2		NaN																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(415-417)CAA>GAA		SEC8 protein isoform a							91.0	69.0	76.0					7																	132973814		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:132973814C>G	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.415C>G	7.37:g.132973814C>G	ENSP00000253861:p.Gln139Glu					EXOC4_uc011kpo.1_Missense_Mutation_p.Q38E|EXOC4_uc003vri.2_Missense_Mutation_p.Q139E|EXOC4_uc003vrj.2_Missense_Mutation_p.Q139E	p.Q139E	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			3	450	+		Esophageal squamous(399;0.129)	139					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.415C>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392212	0.62066	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	5.83	5.83	0.93111	Sec8 exocyst complex component specific domain (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	N	0.13098	0.295	0.80722	D	1	B;B	0.24882	0.113;0.042	B;B	0.23574	0.047;0.047	T	0.38845	-0.9642	9	0.02654	T	1	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	139;139	Q96A65;Q8TAR2	EXOC4_HUMAN;.	E	139;139;38	.	ENSP00000253861:Q139E	Q	+	1	0	EXOC4	132624354	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.502000	0.81614	2.756000	0.94617	0.655000	0.94253	CAA		0.443	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1		NM_021807		8	40	0	0	0	0.006214	0	8	40		
AKR1D1	6718	broad.mit.edu	37	7	137782615	137782615	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:137782615G>A	ENST00000242375.3	+	4	424	c.382G>A	c.(382-384)Gga>Aga	p.G128R	AKR1D1_ENST00000411726.2_Missense_Mutation_p.G128R|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Missense_Mutation_p.G128R	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	128					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	ttttCAGCCAGGAGATGAAAT	0.308																																						uc003vtz.2		NaN																	0				skin(1)	1						c.(382-384)GGA>AGA		aldo-keto reductase family 1, member D1							82.0	84.0	83.0					7																	137782615		2203	4300	6503	SO:0001583	missense	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137782615G>A	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.382G>A	7.37:g.137782615G>A	ENSP00000242375:p.Gly128Arg					AKR1D1_uc011kqb.1_Missense_Mutation_p.G128R|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.G128R|AKR1D1_uc011kqf.1_Missense_Mutation_p.G128R|AKR1D1_uc010lmy.1_RNA	p.G128R	NM_005989	NP_005980	P51857	AK1D1_HUMAN			4	451	+			128					A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	ENST00000242375.3	37	c.382G>A	CCDS5846.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494539	0.64186	.	.	ENSG00000122787	ENST00000297463;ENST00000432161;ENST00000411726;ENST00000242375;ENST00000438242	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.13	4.25	0.50352	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.68970	0.3059	M	0.83483	2.645	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.928	T	0.73704	-0.3899	10	0.87932	D	0	.	11.6158	0.51090	0.0862:0.0:0.9138:0.0	.	128;128;128	B4DPN8;B4DPN3;P51857	.;.;AK1D1_HUMAN	R	6;128;128;128;72	ENSP00000389197:G128R;ENSP00000402374:G128R;ENSP00000242375:G128R;ENSP00000397042:G72R	ENSP00000242375:G128R	G	+	1	0	AKR1D1	137433155	1.000000	0.71417	0.971000	0.41717	0.712000	0.41017	8.312000	0.89976	1.382000	0.46385	0.650000	0.86243	GGA		0.308	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1		NM_005989		25	74	0	0	0	0.007291	0	25	74		
KDM7A	80853	broad.mit.edu	37	7	139826545	139826545	+	Silent	SNP	G	G	C	rs201973090		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:139826545G>C	ENST00000397560.2	-	6	877	c.780C>G	c.(778-780)gtC>gtG	p.V260V	JHDM1D_ENST00000006967.5_Silent_p.V260V	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		260	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GCTTGGGAAAGACTGAATCAT	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		15796	0.0		0.001	False		,,,				2504	0.0					uc003vvm.2		NaN																	0				ovary(1)	1						c.(778-780)GTC>GTG		jumonji C domain containing histone demethylase		G		0,3652		0,0,1826	102.0	95.0	97.0		780	0.8	1.0	7		97	3,8173		0,3,4085	no	coding-synonymous	JHDM1D	NM_030647.1		0,3,5911	CC,CG,GG		0.0367,0.0,0.0254		260/942	139826545	3,11825	1826	4088	5914	SO:0001819	synonymous_variant	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139826545G>C																												ENST00000397560.2:c.780C>G	7.37:g.139826545G>C							p.V260V	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN			6	784	-	Melanoma(164;0.0142)		260			JmjC.		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Silent	SNP	ENST00000397560.2	37	c.780C>G	CCDS43658.1																																																																																				0.403	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1				13	84	0	0	0	0.013537	0	13	84		
MGAM	8972	broad.mit.edu	37	7	141752666	141752666	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:141752666G>A	ENST00000549489.2	+	26	3136	c.3041G>A	c.(3040-3042)gGg>gAg	p.G1014E	MGAM_ENST00000475668.2_Missense_Mutation_p.G1014E	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1014					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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATTCCCATGGGGCCACAGCT	0.463																																						uc003vwy.2		NaN																	0				ovary(2)	2						c.(3040-3042)GGG>GAG		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						157.0	146.0	150.0					7																	141752666		1933	4141	6074	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141752666G>A	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3041G>A	7.37:g.141752666G>A	ENSP00000447378:p.Gly1014Glu						p.G1014E	NM_004668	NP_004659	O43451	MGA_HUMAN			26	3095	+	Melanoma(164;0.0272)		1014			Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3041G>A	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429992	0.62844	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	T	0.21361	2.01	4.2	4.2	0.49525	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.38959	N	0.001514	T	0.56702	0.2003	H	0.94183	3.505	0.22050	N	0.999396	D	0.76494	0.999	D	0.80764	0.994	T	0.59768	-0.7392	10	0.87932	D	0	.	14.1027	0.65068	0.0:0.0:1.0:0.0	.	1014	O43451	MGA_HUMAN	E	1014;1014;891	ENSP00000447378:G1014E	ENSP00000316431:G891E	G	+	2	0	MGAM	141399135	1.000000	0.71417	0.024000	0.17045	0.181000	0.23173	5.284000	0.65627	1.878000	0.54408	0.454000	0.30748	GGG		0.463	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3				21	103	0	0	0	0.00278	0	21	103		
MGAM	8972	broad.mit.edu	37	7	141759285	141759285	+	Nonsense_Mutation	SNP	C	C	G	rs146623163	byFrequency	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:141759285C>G	ENST00000549489.2	+	32	3928	c.3833C>G	c.(3832-3834)tCa>tGa	p.S1278*	MGAM_ENST00000475668.2_Nonsense_Mutation_p.S1278*	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1278	Glucoamylase.				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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGCAGTACTCAGACATCGAC	0.567																																						uc003vwy.2		NaN																	0				ovary(2)	2						c.(3832-3834)TCA>TGA		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						32.0	29.0	30.0					7																	141759285		1992	4155	6147	SO:0001587	stop_gained	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141759285C>G	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3833C>G	7.37:g.141759285C>G	ENSP00000447378:p.Ser1278*						p.S1278*	NM_004668	NP_004659	O43451	MGA_HUMAN			32	3887	+	Melanoma(164;0.0272)		1278			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000549489.2	37	c.3833C>G	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	c	41	9.144570	0.99080	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	.	.	.	4.21	4.21	0.49690	.	0.000000	0.28883	U	0.013831	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	15.3828	0.74673	0.0:1.0:0.0:0.0	.	.	.	.	X	1278;1278;1155	.	ENSP00000316431:S1155X	S	+	2	0	MGAM	141405754	0.019000	0.18553	0.989000	0.46669	0.571000	0.35966	1.550000	0.36223	1.897000	0.54924	0.194000	0.17425	TCA		0.567	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3				8	24	0	0	0	0.00308	0	8	24		
ARHGEF35	445328	broad.mit.edu	37	7	143884376	143884376	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:143884376T>G	ENST00000378115.2	-	2	1230	c.1101A>C	c.(1099-1101)aaA>aaC	p.K367N	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.K367N	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	367	Glu-rich.									kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CTGGGACCCCTTTCTCCTTTA	0.537																																						uc003wdz.1		NaN																	0					0						c.(1099-1101)AAA>AAC		Rho guanine nucleotide exchange factor (GEF)							45.0	45.0	45.0					7																	143884376		1882	3529	5411	SO:0001583	missense	445328							g.chr7:143884376T>G	AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1101A>C	7.37:g.143884376T>G	ENSP00000367355:p.Lys367Asn						p.K367N	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN			2	1219	-			367			Glu-rich.		Q6ZUI2	Missense_Mutation	SNP	ENST00000378115.2	37	c.1101A>C	CCDS34770.1	.	.	.	.	.	.	.	.	.	.	.	10.77	1.443417	0.25987	.	.	ENSG00000213214	ENST00000378115;ENST00000543357	.	.	.	2.34	-0.508	0.11980	.	.	.	.	.	T	0.14227	0.0344	N	0.24115	0.695	0.09310	N	1	P	0.44344	0.833	B	0.32022	0.139	T	0.13495	-1.0507	8	0.66056	D	0.02	.	4.724	0.12933	0.0:0.3343:0.0:0.6657	.	367	A5YM69	ARG35_HUMAN	N	367	.	ENSP00000367355:K367N	K	-	3	2	ARHGEF35	143515309	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.192000	0.17096	-0.213000	0.10094	0.155000	0.16302	AAA		0.537	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1		NM_001003702		4	32	0	0	0	0.009096	0	4	32		
KMT2C	58508	broad.mit.edu	37	7	151927028	151927028	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr7:151927028G>C	ENST00000262189.6	-	18	3174	c.2956C>G	c.(2956-2958)Cca>Gca	p.P986A	KMT2C_ENST00000355193.2_Missense_Mutation_p.P986A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	986					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACACAGTATGGATGGTAACAC	0.368																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2956-2958)CCA>GCA		myeloid/lymphoid or mixed-lineage leukemia 3							31.0	25.0	27.0					7																	151927028		1918	3758	5676	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151927028G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2956C>G	7.37:g.151927028G>C	ENSP00000262189:p.Pro986Ala					MLL3_uc003wkz.2_Missense_Mutation_p.P47A	p.P986A	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	18	3175	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	986			PHD-type 4.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2956C>G	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.29|17.29	3.351788|3.351788	0.61183|0.61183	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.87029|.	-2.2;-2.2|.	4.67|4.67	4.67|4.67	0.58626|0.58626	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.41097|.	U|.	0.000958|.	T|T	0.73713|0.73713	0.3622|0.3622	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.73770|0.73770	-0.3878|-0.3878	10|5	0.66056|.	D|.	0.02|.	.|.	17.9348|17.9348	0.89009|0.89009	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	986;47|.	Q8NEZ4;Q8NEZ4-2|.	MLL3_HUMAN;.|.	A|C	986|141	ENSP00000262189:P986A;ENSP00000347325:P986A|.	ENSP00000262189:P986A|.	P|S	-|-	1|2	0|0	MLL3|MLL3	151557961|151557961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.809000|9.809000	0.99208|0.99208	2.303000|2.303000	0.77524|0.77524	0.460000|0.460000	0.39030|0.39030	CCA|TCC		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				10	403	0	0	0	0.004656	0	10	403		
ARHGEF10	9639	broad.mit.edu	37	8	1806263	1806263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:1806263G>A	ENST00000398564.1	+	3	247	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	ARHGEF10_ENST00000518288.1_Missense_Mutation_p.E83K|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E83K|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E59K|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E59K|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E83K			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	83					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGGAGCCAGTGAAGCCCCTGC	0.617																																						uc003wpr.2		NaN																	0				large_intestine(1)	1						c.(175-177)GAA>AAA		Rho guanine nucleotide exchange factor 10							34.0	35.0	34.0					8																	1806263		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1806263G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.247G>A	8.37:g.1806263G>A	ENSP00000381571:p.Glu83Lys					ARHGEF10_uc003wpq.1_Missense_Mutation_p.E83K|ARHGEF10_uc003wps.2_Missense_Mutation_p.E59K|ARHGEF10_uc003wpt.2_5'Flank|ARHGEF10_uc010lrd.1_5'Flank|ARHGEF10_uc003wpu.2_5'Flank	p.E59K	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	3	353	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	83					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.175G>A		.	.	.	.	.	.	.	.	.	.	G	6.855	0.527054	0.13066	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112	T;T;T;T;T;T	0.63744	0.38;0.36;0.37;-0.06;0.37;0.37	3.68	2.5	0.30297	.	5.952550	0.00166	N	0.000005	T	0.56262	0.1973	L	0.44542	1.39	0.09310	N	1	B;B	0.17038	0.0;0.02	B;B	0.19391	0.001;0.025	T	0.41610	-0.9499	10	0.42905	T	0.14	-0.8994	6.0082	0.19559	0.1307:0.3241:0.5451:0.0	.	59;59	O15013-7;O15013-5	.;.	K	59;59;83;83;83;83	ENSP00000340297:E59K;ENSP00000427909:E59K;ENSP00000431012:E83K;ENSP00000381568:E83K;ENSP00000381571:E83K;ENSP00000262112:E83K	ENSP00000262112:E83K	E	+	1	0	ARHGEF10	1793670	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	1.128000	0.31369	1.560000	0.49568	0.467000	0.42956	GAA		0.617	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding					4	24	0	0	0	0.009096	0	4	24		
ASAH1	427	broad.mit.edu	37	8	17928835	17928835	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:17928835C>T	ENST00000262097.6	-	3	501	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ASAH1_ENST00000520051.1_5'UTR|ASAH1_ENST00000381733.4_Missense_Mutation_p.E80K|ASAH1_ENST00000314146.10_Missense_Mutation_p.E87K|ASAH1_ENST00000417108.2_5'UTR|ASAH1_ENST00000520781.1_Missense_Mutation_p.E64K	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	64					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		AGCATCAATTCATGCCATCTT	0.313																																						uc003wyl.2		NaN																	0					0						c.(190-192)GAA>AAA		N-acylsphingosine amidohydrolase 1 isoform a							176.0	143.0	154.0					8																	17928835		2203	4300	6503	SO:0001583	missense	427				ceramide metabolic process	lysosome	ceramidase activity	g.chr8:17928835C>T	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.190G>A	8.37:g.17928835C>T	ENSP00000262097:p.Glu64Lys					ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.E64K|ASAH1_uc003wyn.2_Missense_Mutation_p.E80K|ASAH1_uc003wyo.2_Missense_Mutation_p.E87K	p.E64K	NM_177924	NP_808592	Q13510	ASAH1_HUMAN		Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)	3	502	-			64					E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	c.190G>A	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657068	0.29425	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000314146	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.1	3.3	0.37823	.	0.441395	0.26241	N	0.025509	T	0.39572	0.1083	L	0.56396	1.775	0.22873	N	0.998628	B;B;B;B	0.20459	0.026;0.045;0.026;0.026	B;B;B;B	0.21360	0.015;0.034;0.015;0.015	T	0.31779	-0.9931	10	0.41790	T	0.15	-24.5112	5.5477	0.17073	0.0:0.6223:0.1493:0.2284	.	87;80;64;64	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	K	64;80;64;87	ENSP00000262097:E64K;ENSP00000371152:E80K;ENSP00000427751:E64K;ENSP00000326970:E87K	ENSP00000262097:E64K	E	-	1	0	ASAH1	17973115	0.403000	0.25319	0.012000	0.15200	0.071000	0.16799	0.957000	0.29215	0.853000	0.35312	-0.172000	0.13284	GAA		0.313	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2		NM_004315		4	22	0	0	0	0.001984	0	4	22		
RB1CC1	9821	broad.mit.edu	37	8	53586766	53586766	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:53586766C>G	ENST00000025008.5	-	7	1164	c.641G>C	c.(640-642)aGa>aCa	p.R214T	RB1CC1_ENST00000539297.1_Missense_Mutation_p.R214T|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R214T	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	214					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAAACATTCTCTGTAACTATG	0.398																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3		NaN																	0				ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(640-642)AGA>ACA		Rb1-inducible coiled coil protein 1 isoform 1							175.0	167.0	170.0					8																	53586766		2203	4300	6503	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53586766C>G	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.641G>C	8.37:g.53586766C>G	ENSP00000025008:p.Arg214Thr					RB1CC1_uc003xrf.3_Missense_Mutation_p.R214T	p.R214T	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			7	1199	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	214					Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.641G>C	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.116144	0.56505	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15603	2.41;2.41;2.41	5.36	2.58	0.30949	.	0.131451	0.56097	D	0.000023	T	0.19967	0.0480	L	0.57536	1.79	0.54753	D	0.999981	P;P	0.42692	0.787;0.682	B;B	0.43658	0.426;0.244	T	0.01889	-1.1253	10	0.41790	T	0.15	-9.468	10.2953	0.43620	0.0:0.7859:0.0:0.2141	.	214;214	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	T	214	ENSP00000025008:R214T;ENSP00000396067:R214T;ENSP00000445960:R214T	ENSP00000025008:R214T	R	-	2	0	RB1CC1	53749319	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.451000	0.44952	0.759000	0.33084	-0.373000	0.07131	AGA		0.398	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1		NM_014781		9	135	0	0	0	0.006214	0	9	135		
RP1	6101	broad.mit.edu	37	8	55533796	55533796	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:55533796C>T	ENST00000220676.1	+	2	418	c.270C>T	c.(268-270)caC>caT	p.H90H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	90	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGGGCAGGCACAGCATCACGC	0.607																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NaN																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(268-270)CAC>CAT		retinitis pigmentosa RP1 protein							94.0	78.0	83.0					8																	55533796		2203	4300	6503	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533796C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.270C>T	8.37:g.55533796C>T						RP1_uc011ldy.1_Silent_p.H90H	p.H90H	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	418	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	90			Doublecortin 1.			Silent	SNP	ENST00000220676.1	37	c.270C>T	CCDS6160.1																																																																																				0.607	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2		NM_006269		8	132	0	0	0	0.006214	0	8	132		
UBXN2B	137886	broad.mit.edu	37	8	59345738	59345738	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:59345738A>T	ENST00000399598.2	+	4	481	c.359A>T	c.(358-360)tAc>tTc	p.Y120F	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	120						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GGTGGAGGATACAGATTGGGT	0.289																																						uc003xtl.2		NaN																	0				ovary(2)	2						c.(358-360)TAC>TTC		UBX domain protein 2B							211.0	209.0	210.0					8																	59345738		1812	4069	5881	SO:0001583	missense	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59345738A>T	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.359A>T	8.37:g.59345738A>T	ENSP00000382507:p.Tyr120Phe						p.Y120F	NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN			4	481	+			120					B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.359A>T	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349745	0.82132	.	.	ENSG00000215114	ENST00000399598	T	0.47528	0.84	5.62	5.62	0.85841	.	0.000000	0.40818	U	0.001006	T	0.67543	0.2904	M	0.80183	2.485	0.40770	D	0.983086	D	0.69078	0.997	D	0.70716	0.97	T	0.67492	-0.5657	10	0.22706	T	0.39	-19.2833	14.41	0.67109	1.0:0.0:0.0:0.0	.	120	Q14CS0	UBX2B_HUMAN	F	120	ENSP00000382507:Y120F	ENSP00000382507:Y120F	Y	+	2	0	UBXN2B	59508292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.133000	0.77259	2.150000	0.67090	0.533000	0.62120	TAC		0.289	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1		NM_001077619		15	242	0	0	0	0.010504	0	15	242		
VCPIP1	80124	broad.mit.edu	37	8	67576615	67576615	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:67576615G>A	ENST00000310421.4	-	1	2837	c.2579C>T	c.(2578-2580)tCt>tTt	p.S860F		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	860					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGCTGCAGCAGACTGACCACC	0.428																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2		NaN																	0				lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(2578-2580)TCT>TTT		valosin containing protein (p97)/p47 complex							113.0	108.0	110.0					8																	67576615		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67576615G>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2579C>T	8.37:g.67576615G>A	ENSP00000309031:p.Ser860Phe						p.S860F	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	2838	-		Lung NSC(129;0.142)|all_lung(136;0.227)	860					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.2579C>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385670	0.61956	.	.	ENSG00000175073	ENST00000310421	T	0.33216	1.42	5.52	5.52	0.82312	.	0.474862	0.23830	N	0.044146	T	0.20820	0.0501	N	0.08118	0	0.44149	D	0.996949	B	0.28512	0.214	B	0.25140	0.058	T	0.10086	-1.0645	10	0.66056	D	0.02	-2.5164	19.4386	0.94807	0.0:0.0:1.0:0.0	.	860	Q96JH7	VCIP1_HUMAN	F	860	ENSP00000309031:S860F	ENSP00000309031:S860F	S	-	2	0	VCPIP1	67739169	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	5.747000	0.68689	2.578000	0.87016	0.655000	0.94253	TCT		0.428	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1				5	96	0	0	0	0.001984	0	5	96		
RMDN1	51115	broad.mit.edu	37	8	87486538	87486538	+	Silent	SNP	C	C	T	rs371389514		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:87486538C>T	ENST00000406452.3	-	10	1103	c.944G>A	c.(943-945)tGa>tAa	p.*315*	RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000430676.2_Silent_p.*285*|RMDN1_ENST00000519966.1_Silent_p.*272*	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	0						microtubule (GO:0005874)|mitochondrion (GO:0005739)											GAAAAGTTCTCAATTCTTCTC	0.299																																						uc003ydu.2		NaN																	0				ovary(1)	1						c.(943-945)TGA>TAA		regulator of microtubule dynamics 1		C		1,4403	2.1+/-5.4	0,1,2201	63.0	68.0	66.0		944	0.4	0.4	8		66	0,8584		0,0,4292	no	coding-synonymous	FAM82B	NM_016033.2		0,1,6493	TT,TC,CC		0.0,0.0227,0.0077		315/315	87486538	1,12987	2202	4292	6494	SO:0001819	synonymous_variant	51115					microtubule|spindle pole	binding	g.chr8:87486538C>T	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.944G>A	8.37:g.87486538C>T						FAM82B_uc011lfz.1_Silent_p.*272*|FAM82B_uc011lga.1_Silent_p.*285*	p.*315*	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN			10	1104	-			315					A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Silent	SNP	ENST00000406452.3	37	c.944G>A	CCDS34918.1																																																																																				0.299	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2		NM_016033		6	95	0	0	0	0.006214	0	6	95		
RMDN1	51115	broad.mit.edu	37	8	87486543	87486543	+	Silent	SNP	C	C	T	rs529480556	byFrequency	TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:87486543C>T	ENST00000406452.3	-	10	1098	c.939G>A	c.(937-939)aaG>aaA	p.K313K	RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000430676.2_Silent_p.K283K|RMDN1_ENST00000519966.1_Silent_p.K270K	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	313						microtubule (GO:0005874)|mitochondrion (GO:0005739)											GTTCTCAATTCTTCTCACTGA	0.308																																						uc003ydu.2		NaN																	0				ovary(1)	1						c.(937-939)AAG>AAA		regulator of microtubule dynamics 1							64.0	70.0	68.0					8																	87486543		2202	4290	6492	SO:0001819	synonymous_variant	51115					microtubule|spindle pole	binding	g.chr8:87486543C>T	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.939G>A	8.37:g.87486543C>T						FAM82B_uc011lfz.1_Silent_p.K270K|FAM82B_uc011lga.1_Silent_p.K283K	p.K313K	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN			10	1099	-			313					A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Silent	SNP	ENST00000406452.3	37	c.939G>A	CCDS34918.1																																																																																				0.308	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2		NM_016033		9	100	0	0	0	0.010729	0	9	100		
DCAF4L2	138009	broad.mit.edu	37	8	88885230	88885230	+	Nonsense_Mutation	SNP	C	C	A	rs138662456		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:88885230C>A	ENST00000319675.3	-	1	1066	c.970G>T	c.(970-972)Gaa>Taa	p.E324*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	324								p.E324K(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CCTTCTTCTTCGTTCACATGC	0.552																																						uc003ydz.2		NaN																	2	Substitution - Missense(2)		skin(2)	ovary(1)	1						c.(970-972)GAA>TAA		WD repeat domain 21C							87.0	88.0	87.0					8																	88885230		2203	4300	6503	SO:0001587	stop_gained	138009							g.chr8:88885230C>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.970G>T	8.37:g.88885230C>A	ENSP00000316496:p.Glu324*						p.E324*	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	1067	-			324			WD 2.			Nonsense_Mutation	SNP	ENST00000319675.3	37	c.970G>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	c	17.65	3.441198	0.63067	.	.	ENSG00000176566	ENST00000319675	.	.	.	1.39	-1.48	0.08745	.	0.048503	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.0556	0.09814	0.0:0.5823:0.2408:0.1769	.	.	.	.	X	324	.	ENSP00000316496:E324X	E	-	1	0	DCAF4L2	88954346	1.000000	0.71417	0.001000	0.08648	0.002000	0.02628	3.351000	0.52232	-0.691000	0.05135	-0.349000	0.07799	GAA		0.552	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1		NM_152418		8	57	1	0	0.00448238	0.004482	0.00458947	8	57		
VPS13B	157680	broad.mit.edu	37	8	100712095	100712095	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:100712095G>A	ENST00000358544.2	+	36	6575	c.6464G>A	c.(6463-6465)tGc>tAc	p.C2155Y	VPS13B_ENST00000357162.2_Missense_Mutation_p.C2130Y|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2155					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCAAACCATGCCTGTTAGCA	0.443																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NaN																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(6463-6465)TGC>TAC		vacuolar protein sorting 13B isoform 5							79.0	66.0	71.0					8																	100712095		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100712095G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6464G>A	8.37:g.100712095G>A	ENSP00000351346:p.Cys2155Tyr					VPS13B_uc003yiw.2_Missense_Mutation_p.C2130Y	p.C2155Y	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		36	6575	+	Breast(36;3.73e-07)		2155					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.6464G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746284	0.69418	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.68765	-0.35;-0.35	5.85	5.85	0.93711	.	0.052292	0.85682	D	0.000000	T	0.77498	0.4139	L	0.50333	1.59	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.61201	0.885;0.77	T	0.76217	-0.3040	10	0.51188	T	0.08	.	20.1708	0.98159	0.0:0.0:1.0:0.0	.	2130;2155	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Y	2130;2155	ENSP00000349685:C2130Y;ENSP00000351346:C2155Y	ENSP00000349685:C2130Y	C	+	2	0	VPS13B	100781271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.900000	0.56295	2.761000	0.94854	0.655000	0.94253	TGC		0.443	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042		8	56	0	0	0	0.004482	0	8	56		
ODF1	4956	broad.mit.edu	37	8	103564039	103564039	+	Silent	SNP	C	C	T	rs142790437		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:103564039C>T	ENST00000285402.3	+	1	240	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	28					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.I28I(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TGAGATGCATCGACGAATTTA	0.483																																						uc003ykt.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)	2						c.(82-84)ATC>ATT		outer dense fiber of sperm tails 1		T		1,4405	2.1+/-5.4	0,1,2202	326.0	245.0	273.0		84	0.6	1.0	8	dbSNP_134	273	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ODF1	NM_024410.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		28/251	103564039	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103564039C>T	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.84C>T	8.37:g.103564039C>T							p.I28I	NM_024410	NP_077721	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		1	192	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		28					Q3SX72	Silent	SNP	ENST00000285402.3	37	c.84C>T	CCDS6293.1																																																																																				0.483	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1				25	145	0	0	0	0.003954	0	25	145		
FZD6	8323	broad.mit.edu	37	8	104337008	104337008	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:104337008G>C	ENST00000358755.4	+	4	991	c.674G>C	c.(673-675)aGa>aCa	p.R225T	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Missense_Mutation_p.R193T|FZD6_ENST00000522566.1_Missense_Mutation_p.R225T	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	225					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R225K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ATTGATGTTAGAAGATTCAGA	0.333																																						uc003ylh.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(1)|skin(1)	2						c.(673-675)AGA>ACA		frizzled 6 isoform a precursor							50.0	51.0	50.0					8																	104337008		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104337008G>C	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.674G>C	8.37:g.104337008G>C	ENSP00000351605:p.Arg225Thr					FZD6_uc003yli.2_Missense_Mutation_p.R225T|FZD6_uc003ylj.2_Missense_Mutation_p.R225T|FZD6_uc011lhn.1_Missense_Mutation_p.R191T|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.R170T	p.R225T	NM_003506	NP_003497	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		4	958	+			225			Cytoplasmic (Potential).		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.674G>C	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	G	5.125	0.208694	0.09757	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000539487	D;D;D	0.81996	-1.56;-1.56;-1.56	5.6	-0.0437	0.13858	GPCR, family 2-like (1);	0.246549	0.46758	N	0.000263	T	0.63698	0.2533	N	0.16567	0.415	0.80722	D	1	B;B;B	0.17852	0.001;0.024;0.001	B;B;B	0.24269	0.004;0.052;0.004	T	0.35425	-0.9789	10	0.17369	T	0.5	.	4.9812	0.14166	0.5649:0.146:0.2891:0.0	.	170;225;225	B4E236;B2R9H9;O60353	.;.;FZD6_HUMAN	T	225;225;193;170	ENSP00000429055:R225T;ENSP00000351605:R225T;ENSP00000429528:R193T	ENSP00000351605:R225T	R	+	2	0	FZD6	104406184	1.000000	0.71417	0.862000	0.33874	0.980000	0.70556	2.628000	0.46477	-0.162000	0.10964	-0.658000	0.03865	AGA		0.333	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1		NM_003506		6	47	0	0	0	0.001168	0	6	47		
LRP12	29967	broad.mit.edu	37	8	105509412	105509412	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:105509412G>A	ENST00000276654.5	-	5	1476	c.1368C>T	c.(1366-1368)ttC>ttT	p.F456F	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Silent_p.F437F	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	456	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTTTACAATGGAAATTTCCTG	0.418																																						uc003yma.2		NaN																	0					0						c.(1366-1368)TTC>TTT		low density lipoprotein-related protein 12							105.0	98.0	101.0					8																	105509412		2203	4300	6503	SO:0001819	synonymous_variant	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509412G>A	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1368C>T	8.37:g.105509412G>A						LRP12_uc003ymb.2_Silent_p.F437F|LRP12_uc003ylz.2_5'Flank	p.F456F	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1463	-			456			Extracellular (Potential).|LDL-receptor class A 5.		A8K137|B4DRQ2	Silent	SNP	ENST00000276654.5	37	c.1368C>T	CCDS6303.1																																																																																				0.418	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1		NM_013437		15	102	0	0	0	0.008871	0	15	102		
NUDCD1	84955	broad.mit.edu	37	8	110255327	110255327	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:110255327G>A	ENST00000239690.4	-	10	2037	c.1663C>T	c.(1663-1665)Cct>Tct	p.P555S	NUDCD1_ENST00000427660.2_Missense_Mutation_p.P526S	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CCTAAAATAGGATCATTGGTT	0.368																																						uc003ynb.3		NaN																	0				ovary(1)|breast(1)	2						c.(1663-1665)CCT>TCT		NudC domain containing 1 isoform 1							205.0	197.0	200.0					8																	110255327		2203	4300	6503	SO:0001583	missense	84955							g.chr8:110255327G>A	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.1663C>T	8.37:g.110255327G>A	ENSP00000239690:p.Pro555Ser					NUDCD1_uc003yna.2_Missense_Mutation_p.P526S|NUDCD1_uc010mcl.2_Missense_Mutation_p.P468S	p.P555S	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		10	1774	-	all_neural(195;0.219)		555						Missense_Mutation	SNP	ENST00000239690.4	37	c.1663C>T	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643265	0.29246	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.18016	2.24;2.24	5.23	5.23	0.72850	.	0.104543	0.64402	D	0.000003	T	0.24005	0.0581	L	0.34521	1.04	0.58432	D	0.999992	D;P;B	0.53745	0.962;0.872;0.32	P;B;B	0.52481	0.7;0.301;0.121	T	0.00601	-1.1650	10	0.31617	T	0.26	-3.0886	18.1669	0.89731	0.0:0.0:1.0:0.0	.	468;555;526	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	S	555;526	ENSP00000239690:P555S;ENSP00000410707:P526S	ENSP00000239690:P555S	P	-	1	0	NUDCD1	110324503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.764000	0.55264	2.603000	0.88011	0.650000	0.86243	CCT		0.368	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1		NM_032869		32	212	0	0	0	0.004289	0	32	212		
CSMD3	114788	broad.mit.edu	37	8	113267562	113267562	+	Silent	SNP	A	A	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:113267562A>G	ENST00000297405.5	-	62	10201	c.9957T>C	c.(9955-9957)ttT>ttC	p.F3319F	CSMD3_ENST00000352409.3_Silent_p.F3249F|CSMD3_ENST00000343508.3_Silent_p.F3279F|CSMD3_ENST00000455883.2_Silent_p.F3150F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3319	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATGAAAGGAAAATTGCAGC	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9955-9957)TTT>TTC		CUB and Sushi multiple domains 3 isoform 1							131.0	119.0	123.0					8																	113267562		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113267562A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9957T>C	8.37:g.113267562A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.F2521F|CSMD3_uc003ynt.2_Silent_p.F3279F|CSMD3_uc011lhx.1_Silent_p.F3150F	p.F3319F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			62	10116	-			3319			Extracellular (Potential).|Sushi 26.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9957T>C	CCDS6315.1																																																																																				0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		9	55	0	0	0	0.006214	0	9	55		
NOV	4856	broad.mit.edu	37	8	120430374	120430374	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:120430374C>A	ENST00000259526.3	+	3	614	c.387C>A	c.(385-387)ttC>ttA	p.F129L	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			GCTGCAAATTCCAGTGCACCT	0.527																																						uc003yoq.2		NaN																	0				ovary(2)|skin(2)|kidney(1)	5						c.(385-387)TTC>TTA		nephroblastoma overexpressed precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						92.0	93.0	93.0					8																	120430374		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120430374C>A	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.387C>A	8.37:g.120430374C>A	ENSP00000259526:p.Phe129Leu						p.F129L	NM_002514	NP_002505	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		3	608	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		129			VWFC.			Missense_Mutation	SNP	ENST00000259526.3	37	c.387C>A	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212512	0.58452	.	.	ENSG00000136999	ENST00000259526	T	0.63255	-0.03	5.51	3.59	0.41128	von Willebrand factor, type C (4);	0.123719	0.56097	D	0.000027	T	0.41766	0.1173	N	0.05414	-0.055	0.29502	N	0.85485	B	0.24317	0.101	B	0.28916	0.096	T	0.44498	-0.9324	10	0.44086	T	0.13	-30.6196	10.8734	0.46896	0.0:0.7866:0.0:0.2134	.	129	P48745	NOV_HUMAN	L	129	ENSP00000259526:F129L	ENSP00000259526:F129L	F	+	3	2	NOV	120499555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.017000	0.40981	1.574000	0.49760	0.561000	0.74099	TTC		0.527	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1		NM_002514		9	56	1	0	1.12685e-05	0.004482	1.19034e-05	9	56		
TG	7038	broad.mit.edu	37	8	133880419	133880419	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:133880419C>T	ENST00000220616.4	+	2	167	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	TG_ENST00000377869.1_Silent_p.L43L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	43	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AACGGCCTTTCTGAAGCAAGC	0.517																																						uc003ytw.2		NaN																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(127-129)CTG>TTG		thyroglobulin precursor							120.0	102.0	108.0					8																	133880419		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133880419C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.127C>T	8.37:g.133880419C>T							p.L43L	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	2	168	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	43			Thyroglobulin type-1 1.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.127C>T	CCDS34944.1																																																																																				0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235		9	83	0	0	0	0.013537	0	9	83		
TG	7038	broad.mit.edu	37	8	133945805	133945805	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:133945805G>A	ENST00000220616.4	+	24	4856		c.e24-1		TG_ENST00000377869.1_Splice_Site|TG_ENST00000542445.1_Splice_Site	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin						hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.?(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGTGCTTGCAGATTGCACAGA	0.582																																						uc003ytw.2		NaN																	1	Unknown(1)		breast(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.e24-1		thyroglobulin precursor							217.0	162.0	181.0					8																	133945805		2203	4300	6503	SO:0001630	splice_region_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133945805G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4817-1G>A	8.37:g.133945805G>A						TG_uc010mdw.2_Splice_Site_p.D365_splice|TG_uc011ljb.1_Splice_Site_p.D39_splice	p.D1606_splice	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	24	4858	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)						O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Splice_Site	SNP	ENST00000220616.4	37	c.4817_splice	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	g	10.46	1.357361	0.24598	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000519178;ENST00000542445	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3397	0.66617	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TG	134014987	1.000000	0.71417	0.891000	0.34965	0.023000	0.10783	4.474000	0.60203	2.761000	0.94854	0.637000	0.83480	.		0.582	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235	Intron	10	105	0	0	0	0.00245	0	10	105		
FAM135B	51059	broad.mit.edu	37	8	139158273	139158273	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:139158273G>T	ENST00000395297.1	-	15	3639	c.3469C>A	c.(3469-3471)Ctg>Atg	p.L1157M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1157										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCTTTACCAGCCGGAGGTCT	0.433										HNSCC(54;0.14)																												uc003yuy.2		NaN																	0				ovary(7)|skin(2)	9						c.(3469-3471)CTG>ATG		hypothetical protein LOC51059							88.0	92.0	91.0					8																	139158273		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139158273G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3469C>A	8.37:g.139158273G>T	ENSP00000378710:p.Leu1157Met	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.L1058M|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L719M|FAM135B_uc003yvb.2_Missense_Mutation_p.A684D	p.L1157M	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		15	3640	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1157					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3469C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950705	0.34377	.	.	ENSG00000147724	ENST00000395297	T	0.49139	0.79	5.81	3.71	0.42584	Domain of unknown function DUF676, lipase-like (1);	0.092098	0.45361	D	0.000365	T	0.70081	0.3183	M	0.84585	2.705	0.43435	D	0.995607	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76184	-0.3052	10	0.87932	D	0	-10.0865	12.9537	0.58415	0.1544:0.0:0.8456:0.0	.	1157;1157	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	M	1157	ENSP00000378710:L1157M	ENSP00000378710:L1157M	L	-	1	2	FAM135B	139227455	0.995000	0.38212	0.981000	0.43875	0.563000	0.35712	2.280000	0.43443	1.464000	0.47987	-0.137000	0.14449	CTG		0.433	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3		NM_015912		12	51	1	0	0.00010058	0.013537	0.000104953	12	51		
FAM135B	51059	broad.mit.edu	37	8	139160802	139160802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:139160802C>T	ENST00000395297.1	-	14	3579	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1137										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAATTCCATCTTCCAAATTT	0.358										HNSCC(54;0.14)																												uc003yuy.2		NaN																	0				ovary(7)|skin(2)	9						c.(3409-3411)GAT>AAT		hypothetical protein LOC51059							128.0	112.0	117.0					8																	139160802		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139160802C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3409G>A	8.37:g.139160802C>T	ENSP00000378710:p.Asp1137Asn	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.D1038N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.D699N|FAM135B_uc003yvb.2_Missense_Mutation_p.R664K	p.D1137N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		14	3580	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1137					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3409G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297148	0.81025	.	.	ENSG00000147724	ENST00000395297	T	0.41400	1.0	5.78	5.78	0.91487	Domain of unknown function DUF676, lipase-like (1);	0.053328	0.64402	D	0.000001	T	0.50650	0.1628	N	0.17474	0.49	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.955;0.999	T	0.49153	-0.8969	10	0.36615	T	0.2	-14.7427	19.0057	0.92849	0.0:1.0:0.0:0.0	.	1137;1137	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	N	1137	ENSP00000378710:D1137N	ENSP00000378710:D1137N	D	-	1	0	FAM135B	139229984	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.730000	0.93505	0.650000	0.86243	GAT		0.358	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3		NM_015912		11	86	0	0	0	0.00245	0	11	86		
FAM135B	51059	broad.mit.edu	37	8	139278012	139278012	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:139278012C>G	ENST00000395297.1	-	4	401	c.231G>C	c.(229-231)cgG>cgC	p.R77R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	77										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTCTTCATTCCGGTATAAGA	0.493										HNSCC(54;0.14)																												uc003yuy.2		NaN																	0				ovary(7)|skin(2)	9						c.(229-231)CGG>CGC		hypothetical protein LOC51059							99.0	97.0	97.0					8																	139278012		1944	4155	6099	SO:0001819	synonymous_variant	51059							g.chr8:139278012C>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.231G>C	8.37:g.139278012C>G		HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.R77R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		4	402	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		77					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.231G>C	CCDS6375.2																																																																																				0.493	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3		NM_015912		6	74	0	0	0	0.001984	0	6	74		
EEF1D	1936	broad.mit.edu	37	8	144660103	144660103	+	IGR	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144660103G>C	ENST00000529272.1	-	0	1311				NAPRT1_ENST00000426292.3_Missense_Mutation_p.F79L|NAPRT1_ENST00000435154.3_Missense_Mutation_p.F79L|RP11-661A12.7_ENST00000529247.1_RNA|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000276844.7_Missense_Mutation_p.F79L|NAPRT1_ENST00000449291.2_Missense_Mutation_p.F79L|NAPRT1_ENST00000460623.1_5'Flank			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCGAGGCCAGGAACTGCACGT	0.672																																						uc003yym.3		NaN																	0				ovary(1)	1						c.(235-237)TTC>TTG		nicotinate phosphoribosyltransferase domain							46.0	43.0	44.0					8																	144660103		2194	4276	6470	SO:0001628	intergenic_variant	93100				nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr8:144660103G>C	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191		8.37:g.144660103G>C						NAPRT1_uc003yyn.3_Missense_Mutation_p.F79L|NAPRT1_uc011lkh.1_Missense_Mutation_p.F79L|NAPRT1_uc003yyo.3_Missense_Mutation_p.F79L	p.F79L	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		2	262	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		79					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.237C>G	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392039	0.83011	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.44	0.358	0.16084	.	0.125624	0.56097	D	0.000031	T	0.40145	0.1105	L	0.56340	1.77	0.36064	D	0.841658	P;D;P;B	0.54964	0.666;0.969;0.587;0.451	B;P;B;B	0.47786	0.112;0.557;0.225;0.112	T	0.50013	-0.8877	10	0.87932	D	0	-25.9914	8.2613	0.31786	0.4229:0.0:0.5771:0.0	.	79;79;79;79	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	L	79	ENSP00000405670:F79L;ENSP00000401508:F79L;ENSP00000341136:F79L;ENSP00000390949:F79L;ENSP00000276844:F79L	ENSP00000276844:F79L	F	-	3	2	NAPRT1	144731246	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	0.698000	0.25571	-0.005000	0.14395	-0.142000	0.14014	TTC		0.672	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2		NM_032378		3	62	0	0	0	0.000602	0	3	62		
PUF60	22827	broad.mit.edu	37	8	144899273	144899273	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144899273G>A	ENST00000526683.1	-	11	1742	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L	PUF60_ENST00000349157.6_Missense_Mutation_p.S379L|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000453551.2_Missense_Mutation_p.S353L|PUF60_ENST00000456095.2_Missense_Mutation_p.S367L|SCRIB_ENST00000356994.2_5'Flank|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000527197.1_Missense_Mutation_p.S350L|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000313352.7_Missense_Mutation_p.S336L	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	396	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACTCCCACCGAGGGGATGGT	0.612																																						uc003yzs.2		NaN																	0					0						c.(1186-1188)TCG>TTG		poly-U binding splicing factor 60KDa isoform a							29.0	28.0	28.0					8																	144899273		2086	4211	6297	SO:0001583	missense	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144899273G>A	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1187C>T	8.37:g.144899273G>A	ENSP00000434359:p.Ser396Leu					SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.S336L|PUF60_uc003yzt.2_Missense_Mutation_p.S379L|PUF60_uc003yzq.2_Missense_Mutation_p.S353L|PUF60_uc003yzu.1_Missense_Mutation_p.S385L	p.S396L	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		11	1251	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		396			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	ENST00000526683.1	37	c.1187C>T	CCDS47934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.65|12.65	2.000513|2.000513	0.35320|0.35320	.|.	.|.	ENSG00000179950|ENSG00000179950	ENST00000532884|ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197	.|T;T;T;T;T;T	.|0.14516	.|2.6;2.62;2.62;2.61;2.5;2.62	4.77|4.77	2.85|2.85	0.33270|0.33270	.|.	.|0.506800	.|0.20609	.|N	.|0.089019	T|T	0.07818|0.07818	0.0196|0.0196	N|N	0.19112|0.19112	0.55|0.55	0.31957|0.31957	N|N	0.60888|0.60888	.|B;B;B	.|0.22604	.|0.072;0.033;0.019	.|B;B;B	.|0.11329	.|0.006;0.002;0.001	T|T	0.12293|0.12293	-1.0553|-1.0553	5|10	.|0.30078	.|T	.|0.28	.|.	7.7139|7.7139	0.28694|0.28694	0.0828:0.0:0.6582:0.259|0.0828:0.0:0.6582:0.259	.|.	.|367;379;396	.|Q9UHX1-5;Q9UHX1-2;Q9UHX1	.|.;.;PUF60_HUMAN	W|L	266|396;353;336;367;379;350	.|ENSP00000434359:S396L;ENSP00000402953:S353L;ENSP00000322016:S336L;ENSP00000395417:S367L;ENSP00000322036:S379L;ENSP00000431960:S350L	.|ENSP00000322016:S336L	R|S	-|-	1|2	2|0	PUF60|PUF60	144971261|144971261	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.905000|0.905000	0.53344|0.53344	4.239000|4.239000	0.58694|0.58694	1.013000|1.013000	0.39391|0.39391	0.563000|0.563000	0.77884|0.77884	CGG|TCG		0.612	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1		NM_014281		3	17	0	0	0	0.009096	0	3	17		
NRBP2	340371	broad.mit.edu	37	8	144921577	144921577	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144921577G>C	ENST00000442628.2	-	6	628	c.489C>G	c.(487-489)ttC>ttG	p.F163L	NRBP2_ENST00000327830.5_5'UTR	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2											central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGCGTGCAGGAAGCTGCAGA	0.667																																						uc011lkt.1		NaN																	0				central_nervous_system(2)	2						c.(487-489)TTC>TTG		nuclear receptor binding protein 2																																				SO:0001583	missense	340371				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity	g.chr8:144921577G>C	BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.489C>G	8.37:g.144921577G>C	ENSP00000414055:p.Phe163Leu					NRBP2_uc003yzv.2_5'UTR|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_5'UTR|NRBP2_uc011lks.1_5'UTR|NRBP2_uc003yzy.2_5'UTR	p.F163L	NM_178564	NP_848659	Q9NSY0	NRBP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		6	629	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		163			Protein kinase.			Missense_Mutation	SNP	ENST00000442628.2	37	c.489C>G	CCDS34959.2	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457054	0.63401	.	.	ENSG00000185189	ENST00000442628;ENST00000530347	T;D	0.84660	-0.27;-1.88	3.76	1.39	0.22231	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85097	0.5619	M	0.84156	2.68	0.80722	D	1	P	0.42161	0.772	B	0.44044	0.439	T	0.82410	-0.0471	9	0.87932	D	0	.	5.5697	0.17190	0.5224:0.0:0.4776:0.0	.	163	Q9NSY0	NRBP2_HUMAN	L	163;115	ENSP00000414055:F163L;ENSP00000432374:F115L	ENSP00000414055:F163L	F	-	3	2	NRBP2	144993565	0.940000	0.31905	1.000000	0.80357	0.790000	0.44656	0.044000	0.13992	0.369000	0.24510	-0.424000	0.05967	TTC		0.667	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382247.1		NM_178564		5	10	0	0	0	0.001168	0	5	10		
EPPK1	83481	broad.mit.edu	37	8	144940861	144940861	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144940861G>A	ENST00000525985.1	-	2	6632	c.6561C>T	c.(6559-6561)ctC>ctT	p.L2187L				P58107	EPIPL_HUMAN	epiplakin 1	2187						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCTGAGCTGAGGAGTTCAG	0.537																																						uc003zaa.1		NaN																	0				pancreas(1)|skin(1)	2						c.(6559-6561)CTC>CTT		epiplakin 1							242.0	251.0	248.0					8																	144940861		2067	4209	6276	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940861G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6561C>T	8.37:g.144940861G>A							p.L2187L	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	6574	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2187					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6561C>T																																																																																					0.537	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308		26	210	0	0	0	0.003271	0	26	210		
EPPK1	83481	broad.mit.edu	37	8	144940900	144940900	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144940900G>C	ENST00000525985.1	-	2	6593	c.6522C>G	c.(6520-6522)ttC>ttG	p.F2174L				P58107	EPIPL_HUMAN	epiplakin 1	2174						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAATTCCTTGGAACCACAGGT	0.527																																						uc003zaa.1		NaN																	0				pancreas(1)|skin(1)	2						c.(6520-6522)TTC>TTG		epiplakin 1							250.0	257.0	255.0					8																	144940900		2064	4202	6266	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940900G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6522C>G	8.37:g.144940900G>C	ENSP00000436337:p.Phe2174Leu						p.F2174L	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	6535	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2174					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6522C>G		.	.	.	.	.	.	.	.	.	.	G	19.10	3.761483	0.69763	.	.	ENSG00000227184	ENST00000525985	T	0.68765	-0.35	4.66	2.88	0.33553	.	.	.	.	.	T	0.61426	0.2346	M	0.70903	2.155	0.37497	D	0.916611	P	0.41080	0.737	B	0.42112	0.376	T	0.59768	-0.7392	9	0.09338	T	0.73	.	8.6945	0.34287	0.1854:0.0:0.8146:0.0	.	2174	E9PPU0	.	L	2174	ENSP00000436337:F2174L	ENSP00000436337:F2174L	F	-	3	2	EPPK1	145012888	0.998000	0.40836	0.166000	0.22797	0.003000	0.03518	2.683000	0.46943	0.593000	0.29745	-0.237000	0.12165	TTC		0.527	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308		19	166	0	0	0	0.010504	0	19	166		
EPPK1	83481	broad.mit.edu	37	8	144941013	144941013	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144941013G>C	ENST00000525985.1	-	2	6480	c.6409C>G	c.(6409-6411)Ctc>Gtc	p.L2137V				P58107	EPIPL_HUMAN	epiplakin 1	2137						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAGCTGGAGCTTCTTCTCC	0.517																																						uc003zaa.1		NaN																	0				pancreas(1)|skin(1)	2						c.(6409-6411)CTC>GTC		epiplakin 1							205.0	211.0	209.0					8																	144941013		2076	4197	6273	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941013G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6409C>G	8.37:g.144941013G>C	ENSP00000436337:p.Leu2137Val						p.L2137V	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	6422	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2137					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6409C>G		.	.	.	.	.	.	.	.	.	.	G	0.034	-1.318553	0.01320	.	.	ENSG00000227184	ENST00000525985	T	0.66280	-0.2	4.39	3.48	0.39840	.	.	.	.	.	T	0.42810	0.1219	N	0.19112	0.55	0.09310	N	1	B	0.22080	0.064	B	0.19391	0.025	T	0.22452	-1.0216	9	0.12430	T	0.62	.	9.2456	0.37523	0.0:0.0:0.5899:0.4101	.	2137	E9PPU0	.	V	2137	ENSP00000436337:L2137V	ENSP00000436337:L2137V	L	-	1	0	EPPK1	145013001	0.000000	0.05858	0.009000	0.14445	0.013000	0.08279	-0.158000	0.10070	0.999000	0.39023	0.460000	0.39030	CTC		0.517	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308		19	136	0	0	0	0.010504	0	19	136		
EPPK1	83481	broad.mit.edu	37	8	144941802	144941802	+	Missense_Mutation	SNP	G	G	A	rs372213876		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr8:144941802G>A	ENST00000525985.1	-	2	5691	c.5620C>T	c.(5620-5622)Cgt>Tgt	p.R1874C				P58107	EPIPL_HUMAN	epiplakin 1	1874						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCCCACACGAAGTGTGTGC	0.607													g|||	1	0.000199681	0.0	0.0	5008	,	,		18897	0.0		0.001	False		,,,				2504	0.0					uc003zaa.1		NaN																	0				pancreas(1)|skin(1)	2						c.(5620-5622)CGT>TGT		epiplakin 1		A	CYS/ARG	0,4166		0,0,2083	90.0	89.0	89.0		5620	1.4	0.0	8		89	1,8415		0,1,4207	no	missense	EPPK1	NM_031308.1	180	0,1,6290	AA,AG,GG		0.0119,0.0,0.0079	benign	1874/2420	144941802	1,12581	2083	4208	6291	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144941802G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5620C>T	8.37:g.144941802G>A	ENSP00000436337:p.Arg1874Cys						p.R1874C	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	5633	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1874					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5620C>T		.	.	.	.	.	.	.	.	.	.	g	10.56	1.383718	0.25031	0.0	1.19E-4	ENSG00000227184	ENST00000525985	T	0.69561	-0.41	5.1	1.38	0.22167	.	.	.	.	.	T	0.50103	0.1596	L	0.27053	0.805	0.09310	N	1	B	0.16603	0.018	B	0.06405	0.002	T	0.39702	-0.9601	9	0.52906	T	0.07	.	7.4902	0.27458	0.4336:0.0:0.5664:0.0	.	1874	E9PPU0	.	C	1874	ENSP00000436337:R1874C	ENSP00000436337:R1874C	R	-	1	0	EPPK1	145013790	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.125000	0.10579	0.076000	0.16826	-0.924000	0.02725	CGT		0.607	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308		9	36	0	0	0	0.004482	0	9	36		
SMARCA2	6595	broad.mit.edu	37	9	2054650	2054650	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:2054650C>T	ENST00000382203.1	+	6	1309	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	SMARCA2_ENST00000357248.2_Missense_Mutation_p.S367F|SMARCA2_ENST00000382194.1_Missense_Mutation_p.S367F|SMARCA2_ENST00000349721.2_Missense_Mutation_p.S367F			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	367					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTGCCTGGCTCTTTGCCACCA	0.443																																						uc003zhc.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1099-1101)TCT>TTT		SWI/SNF-related matrix-associated							105.0	112.0	109.0					9																	2054650		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2054650C>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1100C>T	9.37:g.2054650C>T	ENSP00000371638:p.Ser367Phe					SMARCA2_uc003zhd.2_Missense_Mutation_p.S367F|SMARCA2_uc010mha.2_Missense_Mutation_p.S358F	p.S367F	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	6	1199	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	367					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.1100C>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223690	0.95139	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	D;D;T;D;D	0.88509	-2.39;-2.38;2.5;-2.39;-2.38	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.93318	0.7870	L	0.49126	1.545	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.80764	0.994;0.991	D	0.93233	0.6619	10	0.87932	D	0	-17.7241	20.3334	0.98727	0.0:1.0:0.0:0.0	.	367;367	P51531-2;P51531	.;SMCA2_HUMAN	F	367	ENSP00000265773:S367F;ENSP00000349788:S367F;ENSP00000392081:S367F;ENSP00000371638:S367F;ENSP00000371629:S367F	ENSP00000265773:S367F	S	+	2	0	SMARCA2	2044650	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.776000	0.85560	2.818000	0.97014	0.591000	0.81541	TCT		0.443	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1		NM_003070		17	82	0	0	0	0.008871	0	17	82		
KIAA2026	158358	broad.mit.edu	37	9	5968412	5968412	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:5968412G>A	ENST00000399933.3	-	3	1818	c.1819C>T	c.(1819-1821)Cca>Tca	p.P607S	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P607S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	607										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATTTCACCTGGACTAAGAGGC	0.363																																						uc003zjq.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1819-1821)CCA>TCA		hypothetical protein LOC158358							100.0	97.0	98.0					9																	5968412		1812	4071	5883	SO:0001583	missense	158358							g.chr9:5968412G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.1819C>T	9.37:g.5968412G>A	ENSP00000382815:p.Pro607Ser						p.P607S	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	3	2035	-		Acute lymphoblastic leukemia(23;0.158)	607					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.1819C>T		.	.	.	.	.	.	.	.	.	.	G	10.90	1.480389	0.26598	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	D;D;D	0.96011	-3.88;-3.88;-3.88	5.79	5.79	0.91817	.	0.133751	0.32231	U	0.006387	D	0.90487	0.7020	N	0.19112	0.55	0.29652	N	0.843861	P	0.47545	0.897	B	0.41440	0.357	D	0.86972	0.2098	10	0.29301	T	0.29	.	13.6902	0.62542	0.0793:0.0:0.9207:0.0	.	607	Q5HYC2	K2026_HUMAN	S	607;607;540	ENSP00000382815:P607S;ENSP00000370870:P607S;ENSP00000444993:P540S	ENSP00000370870:P607S	P	-	1	0	KIAA2026	5958412	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.183000	0.58317	2.747000	0.94245	0.591000	0.81541	CCA		0.363	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2		NM_001017969		5	74	0	0	0	0.001984	0	5	74		
C9orf72	203228	broad.mit.edu	37	9	27566843	27566843	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:27566843C>T	ENST00000380003.3	-	2	339	c.276G>A	c.(274-276)gtG>gtA	p.V92V	C9orf72_ENST00000379997.3_Silent_p.V92V|C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	92					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		AAACAATAATCACTCCCTTTT	0.378																																						uc003zqq.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(274-276)GTG>GTA		hypothetical protein LOC203228 isoform a							100.0	95.0	97.0					9																	27566843		2203	4300	6503	SO:0001819	synonymous_variant	203228							g.chr9:27566843C>T	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.276G>A	9.37:g.27566843C>T						C9orf72_uc003zqr.1_Silent_p.V92V	p.V92V	NM_018325	NP_060795	Q96LT7	CI072_HUMAN		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)	2	373	-		all_neural(11;7.57e-10)	92					A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP	ENST00000380003.3	37	c.276G>A	CCDS6522.1																																																																																				0.378	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1		NM_018325		3	39	0	0	0	0.009096	0	3	39		
NFX1	4799	broad.mit.edu	37	9	33313681	33313681	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:33313681C>T	ENST00000379540.3	+	7	1540	c.1478C>T	c.(1477-1479)tCa>tTa	p.S493L	NFX1_ENST00000379521.4_Missense_Mutation_p.S493L|NFX1_ENST00000318524.6_Missense_Mutation_p.S493L	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	493					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CAGGCTGTCTCAGTCCACTGT	0.483																																						uc003zsq.2		NaN																	0				ovary(1)	1						c.(1477-1479)TCA>TTA		nuclear transcription factor, X-box binding 1							161.0	144.0	150.0					9																	33313681		2203	4300	6503	SO:0001583	missense	4799				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:33313681C>T	U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1478C>T	9.37:g.33313681C>T	ENSP00000368856:p.Ser493Leu					SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.S493L|NFX1_uc003zso.2_Missense_Mutation_p.S493L|NFX1_uc003zsp.1_Missense_Mutation_p.S493L|NFX1_uc010mjr.1_Missense_Mutation_p.S493L|NFX1_uc003zsr.2_Missense_Mutation_p.S493L	p.S493L	NM_002504	NP_002495	Q12986	NFX1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)	7	1539	+			493					A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	c.1478C>T	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803883	0.31869	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.57273	0.41;0.41;0.41	5.4	5.4	0.78164	.	0.582688	0.17200	N	0.183160	T	0.34832	0.0911	N	0.10837	0.055	0.25566	N	0.98694	B;B;B;B;B	0.26577	0.153;0.049;0.016;0.048;0.053	B;B;B;B;B	0.26517	0.054;0.007;0.009;0.016;0.07	T	0.15780	-1.0425	10	0.24483	T	0.36	-3.7267	14.7195	0.69294	0.0:1.0:0.0:0.0	.	493;377;493;493;493	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	L	493	ENSP00000368856:S493L;ENSP00000368836:S493L;ENSP00000317695:S493L	ENSP00000317695:S493L	S	+	2	0	NFX1	33303681	0.961000	0.32948	0.625000	0.29200	0.395000	0.30598	3.949000	0.56668	2.538000	0.85594	0.579000	0.79373	TCA		0.483	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1				16	126	0	0	0	0.012319	0	16	126		
SIGMAR1	10280	broad.mit.edu	37	9	34635839	34635839	+	Silent	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:34635839G>A	ENST00000277010.4	-	4	535	c.462C>T	c.(460-462)caC>caT	p.H154H	SIGMAR1_ENST00000378892.1_Silent_p.H65H|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000477726.1_Silent_p.H123H	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	154					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	CACCAGGCCCGTGTACTACCG	0.647																																						uc003zvb.2		NaN																	0					0						c.(460-462)CAC>CAT		sigma non-opioid intracellular receptor 1	Dextromethorphan(DB00514)						72.0	69.0	70.0					9																	34635839		2203	4300	6503	SO:0001819	synonymous_variant	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34635839G>A	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"""opioid receptor, sigma 1"""	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.462C>T	9.37:g.34635839G>A						SIGMAR1_uc003zva.3_Silent_p.H134H|SIGMAR1_uc003zuz.2_Silent_p.H65H|SIGMAR1_uc003zvc.2_Silent_p.H123H|SIGMAR1_uc003zvd.2_RNA|SIGMAR1_uc011loo.1_Intron	p.H154H	NM_005866	NP_005857	Q99720	SGMR1_HUMAN			4	536	-			154			Cytoplasmic (Potential).		D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Silent	SNP	ENST00000277010.4	37	c.462C>T	CCDS6562.1																																																																																				0.647	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1		NM_005866		11	47	0	0	0	0.00245	0	11	47		
GNE	10020	broad.mit.edu	37	9	36276902	36276902	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:36276902G>A	ENST00000396594.3	-	1	151	c.40C>T	c.(40-42)Caa>Taa	p.Q14*	GNE_ENST00000543356.2_Silent_p.F46F	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	0					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TGAGGTCCTTGAAAGCATGAC	0.403																																					GBM(184;106 2118 20004 35750 50727)	uc010mli.2		NaN																	0					0						c.(40-42)CAA>TAA		UDP-N-acetylglucosamine-2-epimerase/N-							132.0	115.0	120.0					9																	36276902		1568	3582	5150	SO:0001587	stop_gained	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36276902G>A	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000396594.3:c.40C>T	9.37:g.36276902G>A	ENSP00000379839:p.Gln14*					CLTA_uc003zzf.1_Intron|GNE_uc010mlj.2_Silent_p.F46F	p.Q14*	NM_001128227	NP_001121699	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	140	-			Error:Variant_position_missing_in_Q9Y223_after_alignment					A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Nonsense_Mutation	SNP	ENST00000396594.3	37	c.40C>T	CCDS47965.1	.	.	.	.	.	.	.	.	.	.	G	38	7.121814	0.98077	.	.	ENSG00000159921	ENST00000396594	.	.	.	5.98	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.20196	N	0.99993	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8304	0.57742	0.0:0.3275:0.6725:0.0	.	.	.	.	X	14	.	ENSP00000379839:Q14X	Q	-	1	0	GNE	36266902	0.175000	0.23083	0.012000	0.15200	0.848000	0.48234	2.253000	0.43205	0.788000	0.33755	0.585000	0.79938	CAA		0.403	GNE-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401509.1		NM_005476		17	69	0	0	0	0.014323	0	17	69		
TBC1D2	55357	broad.mit.edu	37	9	100971023	100971023	+	Missense_Mutation	SNP	C	C	T	rs200508548		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:100971023C>T	ENST00000375064.1	-	9	2115	c.2077G>A	c.(2077-2079)Gac>Aac	p.D693N	TBC1D2_ENST00000375066.5_Missense_Mutation_p.D693N|TBC1D2_ENST00000342112.5_Missense_Mutation_p.D475N|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.D233N	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	693	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGGAGCTTGTCGGGGAAGCTG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		18574	0.001		0.0	False		,,,				2504	0.0					uc011lvb.1		NaN																	0				ovary(3)	3						c.(2077-2079)GAC>AAC		TBC1 domain family, member 2							87.0	86.0	86.0					9																	100971023		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100971023C>T	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2077G>A	9.37:g.100971023C>T	ENSP00000364205:p.Asp693Asn					TBC1D2_uc004ayp.2_Missense_Mutation_p.D233N|TBC1D2_uc004ayq.2_Missense_Mutation_p.D693N|TBC1D2_uc004ayr.2_Missense_Mutation_p.D475N|TBC1D2_uc004ayo.3_Missense_Mutation_p.D693N	p.D693N	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	9	2257	-		Myeloproliferative disorder(762;0.0255)	693			Rab-GAP TBC.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.2077G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.81	2.646886	0.47258	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	5.76	3.74	0.42951	Rab-GAP/TBC domain (4);	0.318633	0.35349	N	0.003269	T	0.06690	0.0171	N	0.25825	0.765	0.28081	N	0.932201	B;B	0.22346	0.068;0.055	B;B	0.13407	0.009;0.005	T	0.18178	-1.0345	10	0.36615	T	0.2	.	5.3555	0.16059	0.1307:0.5787:0.2089:0.0816	.	693;693	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	N	693;693;475;233	ENSP00000364205:D693N;ENSP00000364207:D693N;ENSP00000341567:D475N;ENSP00000364203:D233N	ENSP00000341567:D475N	D	-	1	0	TBC1D2	100010844	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	4.457000	0.60088	1.447000	0.47661	0.655000	0.94253	GAC		0.642	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1		NM_018421		4	55	0	0	0	0.009096	0	4	55		
PTPN3	5774	broad.mit.edu	37	9	112166859	112166859	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:112166859C>T	ENST00000374541.2	-	19	1926	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	PTPN3_ENST00000412145.1_Missense_Mutation_p.E477K|PTPN3_ENST00000446349.1_Missense_Mutation_p.E432K|PTPN3_ENST00000262539.3_Missense_Mutation_p.E454K|PTPN3_ENST00000394827.3_Missense_Mutation_p.E76K	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	608					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						agttcatcttcagacttgaag	0.493																																						uc004bed.2		NaN																	0				ovary(3)	3						c.(1822-1824)GAA>AAA		protein tyrosine phosphatase, non-receptor type							109.0	97.0	101.0					9																	112166859		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112166859C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1822G>A	9.37:g.112166859C>T	ENSP00000363667:p.Glu608Lys					PTPN3_uc004beb.2_Missense_Mutation_p.E477K|PTPN3_uc004bec.2_Missense_Mutation_p.E432K|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.E563K|PTPN3_uc011lwh.1_Missense_Mutation_p.E454K|PTPN3_uc011lwd.1_Missense_Mutation_p.E76K|PTPN3_uc011lwe.1_Missense_Mutation_p.E321K|PTPN3_uc011lwf.1_Missense_Mutation_p.E276K	p.E608K	NM_002829	NP_002820	P26045	PTN3_HUMAN			19	1934	-			608					A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.1822G>A	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517043	0.64634	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.71817	-0.46;-0.47;-0.6;3.93;-0.41	5.63	5.63	0.86233	.	0.333086	0.36002	N	0.002845	T	0.73521	0.3597	M	0.76574	2.34	0.45747	D	0.998644	B;B;B	0.26258	0.145;0.009;0.001	B;B;B	0.23419	0.046;0.021;0.007	T	0.71182	-0.4668	10	0.52906	T	0.07	.	20.0471	0.97613	0.0:1.0:0.0:0.0	.	454;563;608	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	K	608;477;432;608;76;454	ENSP00000416654:E477K;ENSP00000395384:E432K;ENSP00000363667:E608K;ENSP00000378304:E76K;ENSP00000262539:E454K	ENSP00000262539:E454K	E	-	1	0	PTPN3	111206680	0.999000	0.42202	0.991000	0.47740	0.581000	0.36288	5.262000	0.65501	2.815000	0.96918	0.561000	0.74099	GAA		0.493	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4				20	90	0	0	0	0.004656	0	20	90		
COL27A1	85301	broad.mit.edu	37	9	116973287	116973287	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:116973287G>T	ENST00000356083.3	+	12	2739	c.2348G>T	c.(2347-2349)aGg>aTg	p.R783M	MIR455_ENST00000384993.1_RNA	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	783	Collagen-like 3.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCTGGCAAGAGGGGCAAGATG	0.642																																						uc011lxl.1		NaN																	0				ovary(3)|skin(1)	4						c.(2347-2349)AGG>ATG		collagen, type XXVII, alpha 1 precursor							115.0	99.0	105.0					9																	116973287		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116973287G>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2348G>T	9.37:g.116973287G>T	ENSP00000348385:p.Arg783Met					COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.R582M	p.R783M	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			12	2348	+			783			Collagen-like 3.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.2348G>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854700	0.51376	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.94330	-3.4;-3.39	5.67	5.67	0.87782	.	.	.	.	.	D	0.94703	0.8291	L	0.35487	1.065	0.53688	D	0.999978	D;D	0.89917	0.999;1.0	D;D	0.87578	0.979;0.998	D	0.95047	0.8183	9	0.62326	D	0.03	.	17.2564	0.87057	0.0:0.0:1.0:0.0	.	783;679	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	M	783;783;679;679	ENSP00000348385:R783M;ENSP00000391328:R679M	ENSP00000348385:R783M	R	+	2	0	COL27A1	116013108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.795000	0.47861	2.676000	0.91093	0.561000	0.74099	AGG		0.642	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1		NM_032888		6	94	1	0	2.52707e-12	0.006214	2.77192e-12	6	94		
DFNB31	25861	broad.mit.edu	37	9	117188538	117188538	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:117188538C>G	ENST00000362057.3	-	4	1287	c.1119G>C	c.(1117-1119)aaG>aaC	p.K373N	DFNB31_ENST00000265134.6_5'UTR|DFNB31_ENST00000374059.3_5'Flank	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	373					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGCGATCCACTTGGTCTCGT	0.617																																						uc004biz.3		NaN																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1117-1119)AAG>AAC		CASK-interacting protein CIP98 isoform 1							71.0	65.0	67.0					9																	117188538		2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117188538C>G	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1119G>C	9.37:g.117188538C>G	ENSP00000354623:p.Lys373Asn					DFNB31_uc004bix.2_5'Flank|DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.K373N	p.K373N	NM_015404	NP_056219	Q9P202	WHRN_HUMAN			4	1768	-			373					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.1119G>C	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591585	0.46214	.	.	ENSG00000095397	ENST00000362057	T	0.17691	2.26	5.05	3.19	0.36642	PDZ/DHR/GLGF (1);	0.157923	0.53938	D	0.000041	T	0.18800	0.0451	L	0.60455	1.87	0.80722	D	1	P;B	0.40282	0.711;0.247	B;B	0.42692	0.395;0.158	T	0.01626	-1.1309	10	0.41790	T	0.15	-22.0507	6.9156	0.24357	0.0:0.6538:0.1267:0.2194	.	373;373	B9EGE6;Q9P202	.;WHRN_HUMAN	N	373	ENSP00000354623:K373N	ENSP00000354623:K373N	K	-	3	2	DFNB31	116228359	0.952000	0.32445	1.000000	0.80357	0.995000	0.86356	0.117000	0.15583	0.529000	0.28599	0.561000	0.74099	AAG		0.617	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2		NM_015404		6	54	0	0	0	0.001984	0	6	54		
STRBP	55342	broad.mit.edu	37	9	125909232	125909232	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:125909232G>T	ENST00000348403.5	-	13	1669	c.1240C>A	c.(1240-1242)Cat>Aat	p.H414N	STRBP_ENST00000447404.2_Missense_Mutation_p.H414N|STRBP_ENST00000360998.3_Missense_Mutation_p.H400N	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	414	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ACTGGGGCATGAACGGGGCCA	0.463																																						uc004bns.2		NaN																	0				breast(1)|skin(1)	2						c.(1240-1242)CAT>AAT		spermatid perinuclear RNA binding protein							178.0	165.0	170.0					9																	125909232		2203	4300	6503	SO:0001583	missense	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125909232G>T	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1240C>A	9.37:g.125909232G>T	ENSP00000321347:p.His414Asn					STRBP_uc004bnt.2_Missense_Mutation_p.H232N|STRBP_uc004bnu.2_Missense_Mutation_p.H400N|STRBP_uc004bnv.2_Missense_Mutation_p.H414N|STRBP_uc004bnr.2_Missense_Mutation_p.H26N	p.H414N	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN			13	1670	-			414			DRBM 1.		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	c.1240C>A	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203289	0.95033	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.79845	-1.31;-1.31;-1.31	5.69	5.69	0.88448	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.91928	0.7444	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.93026	0.6444	10	0.87932	D	0	-12.2037	18.8051	0.92034	0.0:0.0:1.0:0.0	.	414;400	Q96SI9;Q96SI9-2	STRBP_HUMAN;.	N	414;414;400	ENSP00000415968:H414N;ENSP00000321347:H414N;ENSP00000354271:H400N	ENSP00000321347:H414N	H	-	1	0	STRBP	124949053	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.689000	0.91719	0.460000	0.39030	CAT		0.463	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1				13	114	1	0	3.27435e-08	0.00245	3.53984e-08	13	114		
DOLK	22845	broad.mit.edu	37	9	131709575	131709575	+	Missense_Mutation	SNP	C	C	T	rs373115419		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr9:131709575C>T	ENST00000372586.3	-	1	323	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	3					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						TGGGCACTCTCGGGTCATATC	0.662																																						uc004bwr.2		NaN																	0					0						c.(7-9)CGA>CAA		dolichol kinase		C	GLN/ARG	0,4390		0,0,2195	23.0	29.0	27.0		8	4.2	1.0	9		27	1,8587		0,1,4293	no	missense	DOLK	NM_014908.3	43	0,1,6488	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	3/539	131709575	1,12977	2195	4294	6489	SO:0001583	missense	22845				dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	g.chr9:131709575C>T	AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"""dolichol kinase 1"""	610746	"""transmembrane protein 15"""	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.8G>A	9.37:g.131709575C>T	ENSP00000361667:p.Arg3Gln					NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	p.R3Q	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN			1	438	-			3			Lumenal (Potential).		Q5SRE6	Missense_Mutation	SNP	ENST00000372586.3	37	c.8G>A	CCDS6915.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580708	0.65992	0.0	1.16E-4	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.81996	-1.56	5.12	4.2	0.49525	.	0.525024	0.14350	N	0.325108	T	0.74861	0.3772	L	0.36672	1.1	0.30612	N	0.759395	B	0.17465	0.022	B	0.08055	0.003	T	0.72510	-0.4271	10	0.87932	D	0	-18.4659	9.6438	0.39855	0.0:0.904:0.0:0.096	.	3	Q9UPQ8	DOLK_HUMAN	Q	3	ENSP00000361667:R3Q	ENSP00000361667:R3Q	R	-	2	0	DOLK	130749396	0.854000	0.29725	0.981000	0.43875	0.466000	0.32739	1.412000	0.34714	2.655000	0.90218	0.462000	0.41574	CGA		0.662	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054515.1		NM_014908		10	53	0	0	0	0.001855	0	10	53		
RPS6KA3	6197	broad.mit.edu	37	X	20194392	20194392	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:20194392C>G	ENST00000379565.3	-	13	1285	c.1078G>C	c.(1078-1080)Gag>Cag	p.E360Q	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.E332Q|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.E331Q|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.E332Q	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	360	AGC-kinase C-terminal.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|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 apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	GCAGTAAACTCAGGATCAAAA	0.348																																						uc004czu.2		NaN																	0				central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						c.(1078-1080)GAG>CAG		ribosomal protein S6 kinase, 90kDa, polypeptide							79.0	75.0	76.0					X																	20194392		2203	4300	6503	SO:0001583	missense	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20194392C>G	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1078G>C	X.37:g.20194392C>G	ENSP00000368884:p.Glu360Gln					RPS6KA3_uc011mjk.1_Missense_Mutation_p.E331Q|RPS6KA3_uc004czv.2_Missense_Mutation_p.E348Q|RPS6KA3_uc011mjl.1_Missense_Mutation_p.E332Q|RPS6KA3_uc011mjm.1_Missense_Mutation_p.E332Q	p.E360Q	NM_004586	NP_004577	P51812	KS6A3_HUMAN			13	1078	-			360			AGC-kinase C-terminal.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	c.1078G>C	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214815	0.58452	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.25	4.39	0.52855	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.050733	0.85682	D	0.000000	T	0.77928	0.4204	M	0.85630	2.765	0.80722	D	1	P;P;P;P	0.46578	0.566;0.844;0.88;0.76	B;B;P;B	0.51945	0.285;0.328;0.685;0.378	T	0.80320	-0.1432	10	0.56958	D	0.05	.	13.2672	0.60141	0.0:0.9212:0.0:0.0788	.	332;331;332;360	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	Q	360;332;331;332	ENSP00000368884:E360Q;ENSP00000440220:E332Q;ENSP00000368865:E331Q;ENSP00000444837:E332Q	ENSP00000368865:E331Q	E	-	1	0	RPS6KA3	20104313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.292000	0.78731	0.995000	0.38917	0.513000	0.50165	GAG		0.348	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3		NM_004586		4	21	0	0	0	0.000602	0	4	21		
TAB3	257397	broad.mit.edu	37	X	30872614	30872614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:30872614G>A	ENST00000378933.1	-	3	1345	c.1168C>T	c.(1168-1170)Caa>Taa	p.Q390*	TAB3_ENST00000378930.3_Nonsense_Mutation_p.Q390*|TAB3_ENST00000378932.2_Nonsense_Mutation_p.Q390*|TAB3_ENST00000378928.1_5'Flank|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Nonsense_Mutation_p.Q390*	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	390	Pro-rich.				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						GGAGATGGTTGATTACTGATG	0.423																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2		NaN																	0				ovary(1)	1						c.(1168-1170)CAA>TAA		mitogen-activated protein kinase kinase kinase 7							256.0	209.0	225.0					X																	30872614		2202	4300	6502	SO:0001587	stop_gained	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:30872614G>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.1168C>T	X.37:g.30872614G>A	ENSP00000368215:p.Gln390*					TAB3_uc004dck.2_Nonsense_Mutation_p.Q390*|TAB3_uc010ngl.2_Nonsense_Mutation_p.Q390*	p.Q390*	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			6	1831	-			390			Pro-rich.		A6NDD9|Q6VQR0	Nonsense_Mutation	SNP	ENST00000378933.1	37	c.1168C>T	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	39	7.459076	0.98296	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	.	.	.	4.7	4.7	0.59300	.	0.158490	0.44902	D	0.000418	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-3.3181	17.0924	0.86625	0.0:0.0:1.0:0.0	.	.	.	.	X	390	.	ENSP00000288422:Q390X	Q	-	1	0	TAB3	30782535	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.485000	0.73625	2.303000	0.77524	0.526000	0.51066	CAA		0.423	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1		NM_152787		4	73	0	0	0	0.001168	0	4	73		
BMP15	9210	broad.mit.edu	37	X	50659572	50659572	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:50659572G>A	ENST00000252677.3	+	2	1144	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	382					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CAAGGAGTATGAGGGTATGAT	0.453																																						uc011mnw.1		NaN																	0				ovary(2)	2						c.(1144-1146)GAG>AAG		bone morphogenetic protein 15 precursor							109.0	99.0	102.0					X																	50659572		2203	4299	6502	SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659572G>A	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.1144G>A	X.37:g.50659572G>A	ENSP00000252677:p.Glu382Lys						p.E382K	NM_005448	NP_005439	O95972	BMP15_HUMAN			2	1144	+	Ovarian(276;0.236)		382					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	ENST00000252677.3	37	c.1144G>A	CCDS14334.1	.	.	.	.	.	.	.	.	.	.	g	16.33	3.094305	0.56075	.	.	ENSG00000130385	ENST00000252677	D	0.88896	-2.44	5.58	4.71	0.59529	Transforming growth factor-beta, C-terminal (3);	0.151108	0.64402	D	0.000020	D	0.91633	0.7356	L	0.61387	1.9	0.58432	D	0.999994	D	0.69078	0.997	D	0.63283	0.913	D	0.91383	0.5129	10	0.54805	T	0.06	.	10.4232	0.44363	0.0958:0.0:0.9042:0.0	.	382	O95972	BMP15_HUMAN	K	382	ENSP00000252677:E382K	ENSP00000252677:E382K	E	+	1	0	BMP15	50676312	1.000000	0.71417	0.991000	0.47740	0.038000	0.13279	5.631000	0.67812	2.346000	0.79739	0.594000	0.82650	GAG		0.453	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1		NM_005448		7	63	0	0	0	0.00308	0	7	63		
XAGE5	170627	broad.mit.edu	37	X	52844216	52844216	+	Silent	SNP	A	A	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:52844216A>C	ENST00000375501.1	+	3	279	c.279A>C	c.(277-279)tcA>tcC	p.S93S	XAGE5_ENST00000351072.1_Silent_p.S93S|XAGE5_ENST00000425386.1_Silent_p.S93S|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375503.3_3'UTR			Q8WWM1	XAGE5_HUMAN	X antigen family, member 5	93										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						TGCCAAAATCAGAGCAATTTA	0.388																																						uc004drd.1		NaN																	0				ovary(1)	1						c.(277-279)TCA>TCC		X antigen family, member 5							54.0	50.0	51.0					X																	52844216		2203	4300	6503	SO:0001819	synonymous_variant	170627							g.chrX:52844216A>C	BC069129	CCDS14346.1	Xp11.23	2010-10-19		2005-01-27	ENSG00000171405	ENSG00000171405			30930	protein-coding gene	gene with protein product	"""cancer/testis antigen family 12, member 5"""		"""G antigen, family D, 5"""	GAGED5		12477932	Standard	NM_130775		Approved	XAGE-5, CT12.5	uc004drd.1	Q8WWM1	OTTHUMG00000021589	ENST00000375501.1:c.279A>C	X.37:g.52844216A>C							p.S93S	NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN			4	344	+			93					Q5JS81	Silent	SNP	ENST00000375501.1	37	c.279A>C	CCDS14346.1																																																																																				0.388	XAGE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056689.1		NM_130775		7	22	0	0	0	0.004482	0	7	22		
HUWE1	10075	broad.mit.edu	37	X	53578272	53578272	+	Silent	SNP	C	C	G			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:53578272C>G	ENST00000342160.3	-	63	9508	c.9051G>C	c.(9049-9051)gtG>gtC	p.V3017V	HUWE1_ENST00000262854.6_Silent_p.V3017V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3017					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACTCAGGGCTCACTTCAGTCA	0.597																																						uc004dsp.2		NaN																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(9049-9051)GTG>GTC		HECT, UBA and WWE domain containing 1							53.0	51.0	52.0					X																	53578272		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53578272C>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9051G>C	X.37:g.53578272C>G						HUWE1_uc004dsn.2_Intron	p.V3017V	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			64	9453	-			3017					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.9051G>C	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	8.323	0.824827	0.16678	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.87	2.93	0.34026	.	.	.	.	.	T	0.71804	0.3383	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71523	-0.4567	4	.	.	.	.	16.8252	0.85929	0.0:0.3892:0.6108:0.0	.	.	.	.	Q	2051	.	.	E	-	1	0	HUWE1	53594997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.255000	0.51484	0.567000	0.29293	0.600000	0.82982	GAG		0.597	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119		4	9	0	0	0	0.000602	0	4	9		
RLIM	51132	broad.mit.edu	37	X	73814150	73814150	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:73814150C>T	ENST00000332687.6	-	3	462	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	RLIM_ENST00000349225.2_Missense_Mutation_p.E82K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	82					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTCTATTTTCATCTGAGTTT	0.418																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2		NaN																	0				ovary(2)	2						c.(244-246)GAA>AAA		ring finger protein, LIM domain interacting							137.0	107.0	117.0					X																	73814150		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73814150C>T	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.244G>A	X.37:g.73814150C>T	ENSP00000328059:p.Glu82Lys					RLIM_uc004ebw.2_Missense_Mutation_p.E82K	p.E82K	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			4	534	-			82					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.244G>A	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467199	0.43839	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.06142	3.34;3.34	5.95	5.09	0.68999	.	0.324081	0.34110	N	0.004257	T	0.08802	0.0218	L	0.49350	1.555	0.46336	D	0.998997	B	0.02656	0.0	B	0.04013	0.001	T	0.06127	-1.0844	10	0.42905	T	0.14	-2.7729	14.4774	0.67557	0.0:0.928:0.0:0.072	.	82	Q9NVW2	RNF12_HUMAN	K	82	ENSP00000328059:E82K;ENSP00000253571:E82K	ENSP00000328059:E82K	E	-	1	0	RLIM	73730875	1.000000	0.71417	0.998000	0.56505	0.220000	0.24768	6.228000	0.72288	1.273000	0.44346	-0.215000	0.12644	GAA		0.418	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1		NM_016120		5	29	0	0	0	0.000602	0	5	29		
ABCB7	22	broad.mit.edu	37	X	74291394	74291394	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:74291394C>A	ENST00000373394.3	-	9	1164	c.1157G>T	c.(1156-1158)aGt>aTt	p.S386I	ABCB7_ENST00000339447.4_Missense_Mutation_p.S346I|ABCB7_ENST00000253577.3_Missense_Mutation_p.S387I|ABCB7_ENST00000534570.1_5'UTR			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	386	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TAAACCGACACTGAAAATAGC	0.408																																						uc004eca.2		NaN																	0				ovary(1)	1						c.(1156-1158)AGT>ATT		ATP-binding cassette, sub-family B, member 7							138.0	119.0	125.0					X																	74291394		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74291394C>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1157G>T	X.37:g.74291394C>A	ENSP00000362492:p.Ser386Ile					ABCB7_uc004ebz.2_Missense_Mutation_p.S387I|ABCB7_uc011mqn.1_Missense_Mutation_p.S360I|ABCB7_uc010nls.2_Missense_Mutation_p.S347I|ABCB7_uc010nlt.2_Missense_Mutation_p.S346I	p.S386I	NM_004299	NP_004290	O75027	ABCB7_HUMAN			9	1182	-			386			ABC transmembrane type-1.|Helical; (Potential).		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.1157G>T		.	.	.	.	.	.	.	.	.	.	C	23.0	4.363525	0.82353	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	4.88	4.88	0.63580	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95211	0.8447	M	0.88704	2.975	0.80722	D	1	P;D;D;P;D	0.89917	0.567;1.0;1.0;0.621;1.0	P;D;D;P;D	0.97110	0.561;1.0;0.999;0.688;0.998	D	0.96193	0.9139	10	0.87932	D	0	-17.0378	16.1046	0.81212	0.0:1.0:0.0:0.0	.	360;346;387;386;387	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	I	360;387;346;386;360	ENSP00000253577:S387I;ENSP00000343849:S346I;ENSP00000362492:S386I;ENSP00000436586:S360I	ENSP00000253577:S387I	S	-	2	0	ABCB7	74208119	1.000000	0.71417	0.949000	0.38748	0.932000	0.56968	7.487000	0.81328	1.995000	0.58328	0.600000	0.82982	AGT		0.408	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1		NM_004299		4	63	1	0	0.00909568	0.009096	0.00928131	4	63		
GPRASP1	9737	broad.mit.edu	37	X	101912847	101912847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:101912847C>T	ENST00000361600.5	+	5	4807	c.4006C>T	c.(4006-4008)Caa>Taa	p.Q1336*	GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.Q1336*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.Q1336*|GPRASP1_ENST00000537097.1_Nonsense_Mutation_p.Q1336*|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1336	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						TGACAATATTCAAATTGTTCT	0.328																																						uc004ejj.3		NaN																	0				ovary(1)|lung(1)	2						c.(4006-4008)CAA>TAA		G protein-coupled receptor associated sorting							61.0	59.0	59.0					X																	101912847		2203	4300	6503	SO:0001587	stop_gained	9737					cytoplasm	protein binding	g.chrX:101912847C>T	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.4006C>T	X.37:g.101912847C>T	ENSP00000355146:p.Gln1336*					GPRASP1_uc004eji.3_Nonsense_Mutation_p.Q1336*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.Q1336*	p.Q1336*	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	4807	+			1336			OPRD1-binding.		O43168|Q96LA1	Nonsense_Mutation	SNP	ENST00000361600.5	37	c.4006C>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	47	12.986900	0.99711	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	.	.	.	2.9	0.935	0.19483	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-4.4368	4.603	0.12363	0.255:0.4999:0.2451:0.0	.	.	.	.	X	1336	.	ENSP00000355146:Q1336X	Q	+	1	0	GPRASP1	101799503	0.576000	0.26700	0.989000	0.46669	0.808000	0.45660	-0.211000	0.09332	0.125000	0.18397	0.462000	0.41574	CAA		0.328	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2		NM_014710		7	32	0	0	0	0.004482	0	7	32		
BEX4	56271	broad.mit.edu	37	X	102471435	102471435	+	Silent	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:102471435C>T	ENST00000372695.5	+	3	589	c.354C>T	c.(352-354)ctC>ctT	p.L118L	BEX4_ENST00000372691.3_Silent_p.L118L	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	118						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						ACTTTTGCCTCATACCTTGAA	0.398																																						uc004ejv.3		NaN																	0				skin(1)	1						c.(352-354)CTC>CTT		BEX family member 4							161.0	141.0	148.0					X																	102471435		2203	4300	6503	SO:0001819	synonymous_variant	56271					cytoplasm|nucleus		g.chrX:102471435C>T	AL035494	CCDS35355.1	Xq22.1-q22.3	2014-03-21	2008-11-04	2007-08-24	ENSG00000102409	ENSG00000102409			25475	protein-coding gene	gene with protein product		300692	"""brain expressed X-linked-like 1"", ""BEX family member 4"""	BEXL1		15958283, 16221301	Standard	NM_001080425		Approved	FLJ10097	uc004ejw.4	Q9NWD9	OTTHUMG00000022091	ENST00000372695.5:c.354C>T	X.37:g.102471435C>T						BEX4_uc004ejw.3_Silent_p.L118L	p.L118L	NM_001080425	NP_001073894	Q9NWD9	BEX4_HUMAN			3	589	+			118						Silent	SNP	ENST00000372695.5	37	c.354C>T	CCDS35355.1																																																																																				0.398	BEX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057694.1		XM_043653		13	58	0	0	0	0.003163	0	13	58		
ESX1	80712	broad.mit.edu	37	X	103499470	103499470	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:103499470C>T	ENST00000372588.4	-	1	144	c.61G>A	c.(61-63)Gag>Aag	p.E21K		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	21					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TCGATGTCCTCGCCGACTGCC	0.552																																					Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.2		NaN																	0				ovary(1)	1						c.(61-63)GAG>AAG		extraembryonic, spermatogenesis, homeobox							192.0	163.0	173.0					X																	103499470		2203	4300	6503	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103499470C>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.61G>A	X.37:g.103499470C>T	ENSP00000361669:p.Glu21Lys						p.E21K	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			1	119	-			21					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.61G>A	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	c	18.09	3.546974	0.65198	.	.	ENSG00000123576	ENST00000372588	D	0.92348	-3.02	4.0	-1.24	0.09435	.	.	.	.	.	D	0.83257	0.5215	L	0.27053	0.805	0.09310	N	1	B	0.30439	0.279	B	0.20577	0.03	T	0.70995	-0.4720	9	0.62326	D	0.03	.	7.5563	0.27827	0.0:0.3949:0.0:0.6051	.	21	Q8N693	ESX1_HUMAN	K	21	ENSP00000361669:E21K	ENSP00000361669:E21K	E	-	1	0	ESX1	103386126	0.000000	0.05858	0.000000	0.03702	0.160000	0.22226	-0.430000	0.06973	-0.374000	0.07967	0.534000	0.68092	GAG		0.552	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2		NM_153448		7	157	0	0	0	0.008291	0	7	157		
SERPINA7	6906	broad.mit.edu	37	X	105281023	105281023	+	Silent	SNP	G	G	C			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:105281023G>C	ENST00000327674.4	-	1	362	c.27C>G	c.(25-27)ctC>ctG	p.L9L	SERPINA7_ENST00000372563.1_Silent_p.L9L|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	9					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CAAGTACCAAGAGAACCAGAT	0.448																																						uc004eme.1		NaN																	0					0						c.(25-27)CTC>CTG		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						92.0	81.0	85.0					X																	105281023		2203	4299	6502	SO:0001819	synonymous_variant	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105281023G>C	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.27C>G	X.37:g.105281023G>C						SERPINA7_uc010npd.2_Silent_p.L9L|SERPINA7_uc010npe.1_Silent_p.L9L	p.L9L	NM_000354	NP_000345	P05543	THBG_HUMAN			1	43	-			9					D3DUX1	Silent	SNP	ENST00000327674.4	37	c.27C>G	CCDS14518.1																																																																																				0.448	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1		NM_000354		12	38	0	0	0	0.001855	0	12	38		
SLITRK4	139065	broad.mit.edu	37	X	142718202	142718202	+	Silent	SNP	G	G	T			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chrX:142718202G>T	ENST00000381779.4	-	2	948	c.723C>A	c.(721-723)atC>atA	p.I241I	SLITRK4_ENST00000356928.1_Silent_p.I241I|SLITRK4_ENST00000338017.4_Silent_p.I241I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	241	LRRCT 1.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTTCACAGATAGCTTCTC	0.433																																						uc004fbx.2		NaN																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(721-723)ATC>ATA		slit and trk like 4 protein precursor							74.0	67.0	70.0					X																	142718202		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142718202G>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.723C>A	X.37:g.142718202G>T						SLITRK4_uc004fby.2_Silent_p.I241I	p.I241I	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	1099	-	Acute lymphoblastic leukemia(192;6.56e-05)		241			Extracellular (Potential).|LRRCT 1.		Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.723C>A	CCDS14679.1																																																																																				0.433	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1		NM_173078		7	18	1	0	1.12685e-05	0.004482	1.19034e-05	7	18		
ARID1A	8289	broad.mit.edu	37	1	27092815	27092815	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr1:27092815delC	ENST00000324856.7	+	9	3207	c.2836delC	c.(2836-2838)cccfs	p.P947fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P564fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.P947fs|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	947					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)		CCCTCAGGGACCCCCATATTC	0.483			"""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.(2836-2838)CCCfs		AT rich interactive domain 1A isoform a							98.0	97.0	97.0					1																	27092815		2203	4300	6503	SO:0001589	frameshift_variant	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.chr1:27092815delC	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.2836delC	1.37:g.27092815delC	ENSP00000320485:p.Pro947fs					ARID1A_uc001bmt.1_Frame_Shift_Del_p.P946fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.P946fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.P563fs	p.P946fs	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)	9	3209	+		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)	946					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.2836delC	CCDS285.1																																																																																				0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		18	129	NaN	NaN	NaN	NaN	NaN	18	129	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						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)		TGACTGATACTTTTTTTTGAC	0.363																																						uc001kmm.3		NaN																	0					0						c.(214-216)AGTfs		transmembrane 9 superfamily member 3 precursor							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	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.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs					TM9SF3_uc010qot.1_Frame_Shift_Del_p.S72fs	p.S72fs	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	431	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2		NM_020123		8	150	NaN	NaN	NaN	NaN	NaN	8	150	---	---
IQSEC3	440073	broad.mit.edu	37	12	248252	248254	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr12:248252_248254delGAG	ENST00000538872.1	+	4	1841_1843	c.1723_1725delGAG	c.(1723-1725)gagdel	p.E579del	RP11-598F7.4_ENST00000508953.2_RNA|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_In_Frame_Del_p.E579del|IQSEC3_ENST00000382841.2_In_Frame_Del_p.E276del			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	579	Poly-Glu.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		Agaggaggaagaggaggaggagg	0.7																																						uc001qhw.1		NaN																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(814-816)GAGdel		IQ motif and Sec7 domain 3			,	23,3845		3,17,1914					,	-1.9	0.3			5	55,7605		9,37,3784	no	coding,coding	IQSEC3	NM_015232.1,NM_001170738.1	,	12,54,5698	A1A1,A1R,RR		0.718,0.5946,0.6766	,	,		78,11450				SO:0001651	inframe_deletion	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:248252_248254delGAG	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1723_1725delGAG	12.37:g.248261_248263delGAG	ENSP00000437554:p.Glu579del					IQSEC3_uc001qhu.1_In_Frame_Del_p.E276del|IQSEC3_uc001qht.1_In_Frame_Del_p.E361del|uc001qhv.1_Intron	p.E276del	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	820_822	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		579			Poly-Glu.		A6NIF2|A6NKV9|Q8TB43	In_Frame_Del	DEL	ENST00000538872.1	37	c.814_816delGAG	CCDS53728.1																																																																																				0.700	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3		XM_495902		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
RNF17	56163	broad.mit.edu	37	13	25419163	25419163	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:25419163delA	ENST00000255324.5	+	22	3099	c.3047delA	c.(3046-3048)gaafs	p.E1016fs	RNF17_ENST00000339524.3_Frame_Shift_Del_p.E68fs|RNF17_ENST00000381921.1_Frame_Shift_Del_p.E1016fs	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1016	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAACTTGAAGAAAATCTAAAG	0.303																																						uc001upr.2		NaN																	0				ovary(1)|skin(1)	2						c.(3046-3048)GAAfs		ring finger protein 17							119.0	132.0	128.0					13																	25419163		2203	4300	6503	SO:0001589	frameshift_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25419163delA	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3047delA	13.37:g.25419163delA	ENSP00000255324:p.Glu1016fs					RNF17_uc010tdd.1_Frame_Shift_Del_p.E875fs|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Frame_Shift_Del_p.E1016fs|RNF17_uc001ups.2_Frame_Shift_Del_p.E955fs|RNF17_uc010aac.2_Frame_Shift_Del_p.E214fs|RNF17_uc010aad.2_Frame_Shift_Del_p.E68fs	p.E1016fs	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	22	3088	+		Lung SC(185;0.0225)|Breast(139;0.077)	1016			Tudor 2.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Frame_Shift_Del	DEL	ENST00000255324.5	37	c.3047delA	CCDS9308.2																																																																																				0.303	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1		NM_031994		18	118	NaN	NaN	NaN	NaN	NaN	18	118	---	---
GSX1	219409	broad.mit.edu	37	13	28367927	28367929	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr13:28367927_28367929delGGC	ENST00000302945.2	+	2	685_687	c.637_639delGGC	c.(637-639)ggcdel	p.G218del		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	218	Poly-Gly.				adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	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)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAACCATCgtggcggcggcggcg	0.631																																						uc001urr.1		NaN																	0				ovary(1)	1						c.(637-639)GGCdel		GS homeobox 1																																				SO:0001651	inframe_deletion	219409				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28367927_28367929delGGC	AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"""Homeoboxes / ANTP class : HOXL subclass"""	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.637_639delGGC	13.37:g.28367936_28367938delGGC	ENSP00000304331:p.Gly218del						p.G218del	NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	2	685_687	+		Lung SC(185;0.0161)	218			Poly-Gly.		Q9UD62	In_Frame_Del	DEL	ENST00000302945.2	37	c.637_639delGGC	CCDS9326.1																																																																																				0.631	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2		NM_145657		7	93	NaN	NaN	NaN	NaN	NaN	7	93	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552																																						uc001xms.2		NaN																	0				ovary(3)|breast(1)	4						c.(4390-4392)TCCdel		signal-induced proliferation-associated 1 like																																				SO:0001651	inframe_deletion	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190482_72190484delTCC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4390_4392delTCC	14.37:g.72190491_72190493delTCC	ENSP00000450832:p.Ser1468del					SIPA1L1_uc001xmt.2_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmu.2_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmv.2_In_Frame_Del_p.S1468del|SIPA1L1_uc010ttm.1_In_Frame_Del_p.S922del|SIPA1L1_uc001xmw.2_In_Frame_Del_p.S233del	p.S1468del	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4738_4740	+			1468			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	In_Frame_Del	DEL	ENST00000555818.1	37	c.4390_4392delTCC	CCDS9807.1																																																																																				0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1		NM_015556		7	167	NaN	NaN	NaN	NaN	NaN	7	167	---	---
PROSER3	148137	broad.mit.edu	37	19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-	rs370252048		TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atctcc>atc	p.S218del	C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del			Q2NL68	PRSR3_HUMAN		218	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631																																						uc002obq.1		NaN																	0				ovary(1)	1						c.(637-642)ATCTCC>ATC		hypothetical protein LOC148137				30,4128		11,8,2060						2.0	0.3			153	66,8064		29,8,4028	no	coding	C19orf55	NM_001039887.2		40,16,6088	A1A1,A1R,RR		0.8118,0.7215,0.7812				96,12192				SO:0001651	inframe_deletion	148137							g.chr19:36255947_36255949delCTC																												ENST00000544099.1:c.639_641delCTC	19.37:g.36255956_36255958delCTC	ENSP00000467267:p.Ser218del						p.S218del	NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	712_714	+	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		218			Ser-rich.		Q8NDI3|Q8WWC8|Q96NL4	In_Frame_Del	DEL	ENST00000544099.1	37	c.639_641delCTC																																																																																					0.631	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2				8	402	NaN	NaN	NaN	NaN	NaN	8	402	---	---
RBCK1	10616	broad.mit.edu	37	20	401519	401521	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr20:401519_401521delAGC	ENST00000356286.5	+	7	1466_1468	c.761_763delAGC	c.(760-765)aagcag>aag	p.Q258del	RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000353660.3_In_Frame_Del_p.Q216del	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	258	Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GCCCAGCGGAAGCAGCAGCAGCA	0.729																																						uc002wdp.3		NaN																	0					0						c.(760-765)AAGCAG>AAG		RanBP-type and C3HC4-type zinc finger containing			,	43,3833		14,15,1909					,	5.5	1.0			11	68,7692		12,44,3824	no	coding,coding	RBCK1	NM_031229.2,NM_006462.4	,	26,59,5733	A1A1,A1R,RR		0.8763,1.1094,0.9539	,	,		111,11525				SO:0001651	inframe_deletion	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:401519_401521delAGC	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.761_763delAGC	20.37:g.401528_401530delAGC	ENSP00000348632:p.Gln258del					RBCK1_uc010zpm.1_Intron|RBCK1_uc002wdq.3_In_Frame_Del_p.Q216del|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Intron	p.Q258del	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN			7	1454_1456	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	258			Potential.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	In_Frame_Del	DEL	ENST00000356286.5	37	c.761_763delAGC	CCDS13000.2																																																																																				0.729	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3		NM_031229		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
TBC1D23	55773	broad.mit.edu	37	3	100039735	100039736	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr3:100039735_100039736insA	ENST00000394144.4	+	18	1945_1946	c.1938_1939insA	c.(1939-1941)aaafs	p.K647fs	TBC1D23_ENST00000475134.1_Frame_Shift_Ins_p.K510fs|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Frame_Shift_Ins_p.K632fs	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	647					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.?(2)|p.H650fs*3(1)|p.H635fs*3(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AAATTACATCCAAAAAAAAACA	0.356																																						uc003dtt.2		NaN																	4	Unknown(2)|Insertion - Frameshift(2)		large_intestine(2)|skin(2)	ovary(1)|liver(1)	2						c.(1936-1941)TCCAAAfs		TBC1 domain family, member 23																																				SO:0001589	frameshift_variant	55773					intracellular	Rab GTPase activator activity	g.chr3:100039735_100039736insA	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1947dupA	3.37:g.100039744_100039744dupA	ENSP00000377700:p.Lys647fs					TBC1D23_uc003dts.2_Frame_Shift_Ins_p.S631fs|TBC1D23_uc003dtu.2_Frame_Shift_Ins_p.S77fs	p.S646fs	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN			18	2115_2116	+			646_647					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Frame_Shift_Ins	INS	ENST00000394144.4	37	c.1938_1939insA	CCDS56265.1																																																																																				0.356	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1		NM_018309		8	78	NaN	NaN	NaN	NaN	NaN	8	78	---	---
UBE2K	3093	broad.mit.edu	37	4	39779392	39779392	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr4:39779392delA	ENST00000261427.5	+	6	774	c.490delA	c.(490-492)aaafs	p.K165fs	UBE2K_ENST00000445950.2_Intron|UBE2K_ENST00000503368.1_Frame_Shift_Del_p.K114fs|UBE2K_ENST00000295963.6_Frame_Shift_Del_p.K104fs|UBE2K_ENST00000438068.2_3'UTR	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	165	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						AGAATACACCAAAAAAATAGA	0.363																																					NSCLC(101;689 1592 16105 29682 31745)	uc003guu.3		NaN																	0				ovary(1)	1						c.(490-492)AAAfs		ubiquitin-conjugating enzyme E2K isoform 1							100.0	106.0	104.0					4																	39779392		2203	4300	6503	SO:0001589	frameshift_variant	3093				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity	g.chr4:39779392delA	U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"""Ubiquitin-conjugating enzymes E2"""	4914	protein-coding gene	gene with protein product		602846	"""huntingtin interacting protein 2"", ""ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"""	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.490delA	4.37:g.39779392delA	ENSP00000261427:p.Lys165fs					UBE2K_uc003gus.3_Intron|UBE2K_uc003gut.3_Frame_Shift_Del_p.K113fs|UBE2K_uc010ifn.2_RNA|UBE2K_uc011byq.1_Frame_Shift_Del_p.K103fs|UBE2K_uc003guq.3_Frame_Shift_Del_p.K61fs	p.K164fs	NM_005339	NP_005330	P61086	UBE2K_HUMAN			6	774	+			164			UBA.		A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Frame_Shift_Del	DEL	ENST00000261427.5	37	c.490delA	CCDS33976.1																																																																																				0.363	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361061.1		NM_005339		7	122	NaN	NaN	NaN	NaN	NaN	7	122	---	---
NRG2	9542	broad.mit.edu	37	5	139422565	139422567	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr5:139422565_139422567delGCT	ENST00000361474.1	-	1	312_314	c.88_90delAGC	c.(88-90)agcdel	p.S30del	NRG2_ENST00000289422.7_In_Frame_Del_p.S30del|NRG2_ENST00000545385.1_In_Frame_Del_p.S30del|NRG2_ENST00000358522.3_In_Frame_Del_p.S30del|NRG2_ENST00000541337.1_In_Frame_Del_p.S30del|NRG2_ENST00000289409.4_In_Frame_Del_p.S30del|NRG2_ENST00000394770.1_In_Frame_Del_p.S30del	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	30	Poly-Ser.				embryo development (GO:0009790)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgctcctctcgctgctgctgctg	0.675																																						uc003lex.1		NaN																	0				pancreas(2)|breast(2)|ovary(1)|skin(1)	6						c.(88-90)AGCdel		neuregulin 2 isoform 1			,,,,	46,59,2309		4,0,38,8,43,1114					,,,,	-1.7	0.1			4	25,109,4858		5,0,15,10,89,2377	no	codingComplex,codingComplex,codingComplex,codingComplex,codingComplex	NRG2	NM_013983.2,NM_013982.2,NM_013981.3,NM_004883.2,NM_001184935.1	,,,,	9,0,53,18,132,3491	A1A1,A1A2,A1R,A2A2,A2R,RR		2.6843,4.3496,3.2271	,,,,	,,,,		71,168,7167				SO:0001651	inframe_deletion	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139422565_139422567delGCT		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.88_90delAGC	5.37:g.139422574_139422576delGCT	ENSP00000354910:p.Ser30del					NRG2_uc003lev.1_In_Frame_Del_p.S30del|NRG2_uc003lew.1_In_Frame_Del_p.S30del|NRG2_uc003ley.1_In_Frame_Del_p.S30del	p.S30del	NM_004883	NP_004874	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	313_315	-			30			Poly-Ser.			In_Frame_Del	DEL	ENST00000361474.1	37	c.88_90delAGC	CCDS4217.1																																																																																				0.675	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1		NM_013982		4	3	NaN	NaN	NaN	NaN	NaN	4	3	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519505	137519506	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-A3IU-01A-11D-A20D-08	TCGA-DK-A3IU-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52de410f-3ce3-4ee6-87f3-8ec2e829962f	d261214a-bf85-4af6-936a-9350303517bb	g.chr6:137519505_137519506delCT	ENST00000367739.4	-	7	1253_1254	c.1132_1133delAG	c.(1132-1134)agtfs	p.S380fs	IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	380					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AGGTGAAGAACTCTCTCTCTCT	0.431																																						uc003qho.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1132-1134)AGTfs		interferon gamma receptor 1 precursor	Interferon gamma-1b(DB00033)																																			SO:0001589	frameshift_variant	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519505_137519506delCT		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1132_1133delAG	6.37:g.137519515_137519516delCT	ENSP00000356713:p.Ser380fs					IFNGR1_uc011edm.1_Frame_Shift_Del_p.S350fs	p.S378fs	NM_000416	NP_000407	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1235_1236	-	Colorectal(23;0.24)		378			Cytoplasmic (Potential).		B4DFT7|E1P587|Q53Y96	Frame_Shift_Del	DEL	ENST00000367739.4	37	c.1132_1133delAG	CCDS5185.1																																																																																				0.431	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1				8	145	NaN	NaN	NaN	NaN	NaN	8	145	---	---
