#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DRAXIN	374946	broad.mit.edu	37	1	11775204	11775204	+	Silent	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:11775204C>G	ENST00000294485.5	+	6	1011	c.876C>G	c.(874-876)ctC>ctG	p.L292L		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GGGAGCATCTCTGCACACCCC	0.622																																						uc001asr.1		NA																	0					0						c.(874-876)CTC>CTG		chromosome 1 open reading frame 187 precursor							167.0	129.0	141.0					1																	11775204		2203	4300	6503	SO:0001819	synonymous_variant	374946				axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region		g.chr1:11775204C>G	AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.876C>G	1.37:g.11775204C>G							p.L292L	NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)	6	1016	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	292						Silent	SNP	ENST00000294485.5	37	c.876C>G	CCDS135.1																																																																																				0.622	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006325.1	NM_198545		19	63	0	0	0	0	19	63				
EIF4G3	8672	broad.mit.edu	37	1	21268030	21268030	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:21268030C>T	ENST00000264211.8	-	8	1643	c.1449G>A	c.(1447-1449)gaG>gaA	p.E483E	EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000544689.1_5'UTR|EIF4G3_ENST00000536266.1_Silent_p.E87E|EIF4G3_ENST00000374927.4_Silent_p.E483E|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000356916.3_Silent_p.E494E|EIF4G3_ENST00000602326.1_Silent_p.E489E|EIF4G3_ENST00000374937.3_Silent_p.E489E|EIF4G3_ENST00000400422.1_Silent_p.E483E	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	483					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)		AATCCAAAATCTCTTCTGTTT	0.433																																						uc001bec.2		NA																	0				skin(1)	1						c.(1447-1449)GAG>GAA		eukaryotic translation initiation factor 4							217.0	221.0	220.0					1																	21268030		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:21268030C>T	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.1449G>A	1.37:g.21268030C>T						EIF4G3_uc010odi.1_Silent_p.E87E|EIF4G3_uc010odj.1_Silent_p.E482E|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Silent_p.E483E|EIF4G3_uc001bef.2_Silent_p.E482E|EIF4G3_uc001bee.2_Silent_p.E489E|EIF4G3_uc001beg.2_Silent_p.E482E|EIF4G3_uc010odk.1_Silent_p.E483E|EIF4G3_uc001beh.2_Silent_p.E494E	p.E483E	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)	9	1705	-		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)	483					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.1449G>A	CCDS214.1																																																																																				0.433	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		30	170	0	0	0	0	30	170				
ZBTB8A	653121	broad.mit.edu	37	1	33065908	33065908	+	Missense_Mutation	SNP	A	A	C	rs147884621	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:33065908A>C	ENST00000373510.4	+	5	1443	c.1214A>C	c.(1213-1215)gAg>gCg	p.E405A	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8OS_ENST00000341885.5_Silent_p.S59S|ZBTB8A_ENST00000316459.4_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AGTGAAGATGAGAATAGATCC	0.428																																						uc001bvn.2		NA																	0					0						c.(1213-1215)GAG>GCG		zinc finger and BTB domain containing 8A							147.0	132.0	137.0					1																	33065908		2203	4300	6503	SO:0001583	missense	653121				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:33065908A>C	AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.1214A>C	1.37:g.33065908A>C	ENSP00000362609:p.Glu405Ala					ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_3'UTR|ZBTB8OS_uc001bvo.1_RNA	p.E405A	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN			5	1699	+			405					Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	ENST00000373510.4	37	c.1214A>C	CCDS30664.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216679	0.39201	.	.	ENSG00000160062	ENST00000373510	T	0.14266	2.52	5.59	5.59	0.84812	.	0.328870	0.28262	U	0.015995	T	0.08626	0.0214	N	0.14661	0.345	0.80722	D	1	B	0.27229	0.172	B	0.22386	0.039	T	0.31530	-0.9940	10	0.14252	T	0.57	-18.2496	15.271	0.73702	1.0:0.0:0.0:0.0	.	405	Q96BR9	ZBT8A_HUMAN	A	405	ENSP00000362609:E405A	ENSP00000362609:E405A	E	+	2	0	ZBTB8A	32838495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.884000	0.56175	2.263000	0.75096	0.533000	0.62120	GAG		0.428	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021665.2	NM_144621		5	44	0	0	0	0	5	44				
CYP4B1	1580	broad.mit.edu	37	1	47282750	47282750	+	Silent	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:47282750C>G	ENST00000271153.4	+	9	1137	c.1101C>G	c.(1099-1101)acC>acG	p.T367T	CYP4B1_ENST00000371923.4_Silent_p.T368T|CYP4B1_ENST00000371919.4_Silent_p.T353T|CYP4B1_ENST00000452782.2_Silent_p.T205T			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	367					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CTTATCTGACCATGTGCATCA	0.547																																						uc001cqm.3		NA																	0				ovary(1)|skin(1)	2						c.(1099-1101)ACC>ACG		cytochrome P450, family 4, subfamily B,							178.0	164.0	168.0					1																	47282750		2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47282750C>G	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1101C>G	1.37:g.47282750C>G						CYP4B1_uc001cqn.3_Silent_p.T368T|CYP4B1_uc009vym.2_Silent_p.T353T|CYP4B1_uc010omk.1_Silent_p.T204T	p.T367T	NM_000779	NP_000770	P13584	CP4B1_HUMAN			9	1185	+	Acute lymphoblastic leukemia(166;0.155)		367					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.1101C>G	CCDS542.1																																																																																				0.547	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		22	97	0	0	0	0	22	97				
HFM1	164045	broad.mit.edu	37	1	91817197	91817197	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:91817197C>T	ENST00000370425.3	-	17	2079	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N	HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.D340N	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	661	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCTGTAGTGTCAAACTGGGGA	0.378																																						uc001doa.3		NA																	0					0						c.(1981-1983)GAC>AAC		HFM1 protein							125.0	117.0	120.0					1																	91817197		1870	4101	5971	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91817197C>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1981G>A	1.37:g.91817197C>T	ENSP00000359454:p.Asp661Asn					HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Missense_Mutation_p.D340N|HFM1_uc010osv.1_Missense_Mutation_p.D345N	p.D661N	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	17	2081	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	661			Helicase C-terminal.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.1981G>A	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714527	0.89112	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421;ENST00000541820	T;D	0.93426	-0.62;-3.22	5.75	5.75	0.90469	Helicase, C-terminal (1);	0.000000	0.41097	U	0.000945	D	0.97318	0.9123	H	0.94222	3.51	0.80722	D	1	P;P	0.52577	0.954;0.657	P;B	0.58391	0.838;0.433	D	0.97814	1.0252	10	0.87932	D	0	.	19.6215	0.95658	0.0:1.0:0.0:0.0	.	340;661	A6NGI5;A2PYH4	.;HFM1_HUMAN	N	661;340;345;694	ENSP00000359454:D661N;ENSP00000359453:D340N	ENSP00000359450:D345N	D	-	1	0	HFM1	91589785	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.278000	0.78587	2.727000	0.93392	0.579000	0.79373	GAC		0.378	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		16	65	0	0	0	0	16	65				
OLFM3	118427	broad.mit.edu	37	1	102290711	102290711	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:102290711C>G	ENST00000338858.5	-	4	522	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Missense_Mutation_p.E80Q|OLFM3_ENST00000370103.4_Missense_Mutation_p.E155Q|OLFM3_ENST00000359814.3_Missense_Mutation_p.E175Q			Q96PB7	NOE3_HUMAN	olfactomedin 3	175					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CTTATTTCCTCCTTGAACTGG	0.458																																						uc001duf.2		NA																	0				ovary(2)|skin(1)	3						c.(523-525)GAG>CAG		olfactomedin 3							143.0	129.0	134.0					1																	102290711		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102290711C>G	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.523G>C	1.37:g.102290711C>G	ENSP00000345192:p.Glu175Gln					OLFM3_uc001dug.2_Missense_Mutation_p.E155Q|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.E80Q|OLFM3_uc001due.2_RNA	p.E175Q	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	4	594	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	175			Potential.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.523G>C		.	.	.	.	.	.	.	.	.	.	C	19.36	3.812901	0.70912	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.88818	-2.4;-2.43;-0.7;0.06	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.88160	0.6362	M	0.71581	2.175	0.51767	D	0.999935	P;B	0.52692	0.955;0.18	P;B	0.47346	0.544;0.076	D	0.85377	0.1117	10	0.21540	T	0.41	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	155;175	Q5T3V6;Q96PB7	.;NOE3_HUMAN	Q	26;155;175;80;175	ENSP00000359121:E155Q;ENSP00000345192:E175Q;ENSP00000443471:E80Q;ENSP00000352867:E175Q	ENSP00000345192:E175Q	E	-	1	0	OLFM3	102063299	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.802000	0.85969	2.813000	0.96785	0.655000	0.94253	GAG		0.458	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			7	26	0	0	0	0	7	26				
FLG	2312	broad.mit.edu	37	1	152279707	152279707	+	Missense_Mutation	SNP	C	C	T	rs200637568		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:152279707C>T	ENST00000368799.1	-	3	7690	c.7655G>A	c.(7654-7656)gGa>gAa	p.G2552E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2552	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGATTGTCCCTGGCCCAC	0.592									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7654-7656)GGA>GAA		filaggrin							190.0	206.0	201.0					1																	152279707		2200	4300	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279707C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7655G>A	1.37:g.152279707C>T	ENSP00000357789:p.Gly2552Glu						p.G2552E	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7691	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2552			Ser-rich.|Filaggrin 15.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7655G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	4.570	0.105813	0.08780	.	.	ENSG00000143631	ENST00000368799	T	0.01629	4.72	1.74	-3.49	0.04724	.	.	.	.	.	T	0.00412	0.0013	L	0.55743	1.74	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.52034	-0.8629	9	0.02654	T	1	.	4.2778	0.10818	0.0:0.3209:0.3323:0.3467	.	2552	P20930	FILA_HUMAN	E	2552	ENSP00000357789:G2552E	ENSP00000357789:G2552E	G	-	2	0	FLG	150546331	0.734000	0.28142	0.000000	0.03702	0.004000	0.04260	0.628000	0.24522	-2.184000	0.00762	-0.683000	0.03753	GGA		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		13	330	0	0	0	0	13	330				
NUP210L	91181	broad.mit.edu	37	1	154018842	154018842	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:154018842C>T	ENST00000368559.3	-	26	3558	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K	NUP210L_ENST00000271854.3_Missense_Mutation_p.E1163K|NUP210L_ENST00000368553.1_Missense_Mutation_p.E96K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1163					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATCTGTACTTCATCCTGCTCA	0.463																																						uc001fdw.2		NA																	0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(3487-3489)GAA>AAA		nucleoporin 210kDa-like isoform 1							71.0	71.0	71.0					1																	154018842		1931	4131	6062	SO:0001583	missense	91181					integral to membrane		g.chr1:154018842C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3487G>A	1.37:g.154018842C>T	ENSP00000357547:p.Glu1163Lys					NUP210L_uc009woq.2_Missense_Mutation_p.E72K|NUP210L_uc010peh.1_Missense_Mutation_p.E1163K	p.E1163K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		26	3559	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1163					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.3487G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.326046	0.24080	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.22743	3.49;1.94;3.24	5.71	5.71	0.89125	.	0.082729	0.52532	D	0.000078	T	0.07458	0.0188	L	0.34521	1.04	0.40110	D	0.976479	P;P	0.48407	0.91;0.91	B;B	0.42462	0.294;0.388	T	0.05666	-1.0871	10	0.07325	T	0.83	-10.6683	13.0537	0.58967	0.0:0.8388:0.1612:0.0	.	1163;1163	E7EP56;Q5VU65	.;P210L_HUMAN	K	1163;96;1163	ENSP00000357547:E1163K;ENSP00000357541:E96K;ENSP00000271854:E1163K	ENSP00000271854:E1163K	E	-	1	0	NUP210L	152285466	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.677000	0.37576	2.700000	0.92200	0.650000	0.86243	GAA		0.463	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		7	36	0	0	0	0	7	36				
GON4L	54856	broad.mit.edu	37	1	155720453	155720453	+	Silent	SNP	A	A	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:155720453A>G	ENST00000368331.1	-	32	6696	c.6648T>C	c.(6646-6648)gaT>gaC	p.D2216D	GON4L_ENST00000437809.1_Silent_p.D2215D|GON4L_ENST00000271883.5_Silent_p.D2215D	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2216					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGTTGCATCATCCTCATCCT	0.512																																						uc001flz.2		NA																	0				ovary(3)	3						c.(6646-6648)GAT>GAC		gon-4-like isoform a							38.0	37.0	37.0					1																	155720453		1895	4094	5989	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155720453A>G	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.6648T>C	1.37:g.155720453A>G						MSTO2P_uc010pgp.1_RNA|GON4L_uc001flx.1_Silent_p.D50D|GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Silent_p.D2215D|GON4L_uc009wrh.1_Silent_p.D2215D|GON4L_uc001fma.1_Silent_p.D2216D	p.D2216D	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			32	6745	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		2216					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.6648T>C																																																																																					0.512	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		3	13	0	0	0	0	3	13				
HSPA6	3310	broad.mit.edu	37	1	161495705	161495705	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:161495705C>T	ENST00000309758.4	+	1	1670	c.1257C>T	c.(1255-1257)aaC>aaT	p.N419N	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	419					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCCAGAGGAACGCCACTATCC	0.582																																						uc001gap.2		NA																	0				skin(1)	1						c.(1255-1257)AAC>AAT		heat shock 70kDa protein 6 (HSP70B')							22.0	24.0	23.0					1																	161495705		2202	4278	6480	SO:0001819	synonymous_variant	3310				response to unfolded protein		ATP binding	g.chr1:161495705C>T		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1257C>T	1.37:g.161495705C>T						HSPA6_uc001gaq.2_Silent_p.N419N	p.N419N	NM_002155	NP_002146	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	1917	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		419					Q1HBA8|Q8IYK7|Q9BT95	Silent	SNP	ENST00000309758.4	37	c.1257C>T	CCDS1231.1																																																																																				0.582	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		4	33	0	0	0	0	4	33				
UCK2	7371	broad.mit.edu	37	1	165877020	165877020	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:165877020G>A	ENST00000367879.4	+	7	1049	c.746G>A	c.(745-747)cGc>cAc	p.R249H	UCK2_ENST00000470820.1_Missense_Mutation_p.R99H|UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000469256.2_Missense_Mutation_p.R99H|UCK2_ENST00000372212.4_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	249					cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ACCCCTTCACGCAAGAGGCAG	0.612																																						uc001gdp.2		NA																	0				ovary(1)	1						c.(745-747)CGC>CAC		uridine-cytidine kinase 2							116.0	101.0	106.0					1																	165877020		2203	4300	6503	SO:0001583	missense	7371				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr1:165877020G>A	AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.746G>A	1.37:g.165877020G>A	ENSP00000356853:p.Arg249His					UCK2_uc010plb.1_Missense_Mutation_p.R111H	p.R249H	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN			7	927	+	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		249					Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	Missense_Mutation	SNP	ENST00000367879.4	37	c.746G>A	CCDS1252.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647683	0.47258	.	.	ENSG00000143179	ENST00000367879	.	.	.	5.4	3.52	0.40303	.	0.730057	0.11706	U	0.537362	T	0.48519	0.1504	M	0.63428	1.95	0.48452	D	0.999655	P;D	0.89917	0.939;1.0	P;D	0.65140	0.541;0.932	T	0.42616	-0.9441	8	0.13470	T	0.59	-10.5917	8.9585	0.35832	0.1774:0.0:0.8226:0.0	.	99;249	Q9BZX2-2;Q9BZX2	.;UCK2_HUMAN	H	249	.	ENSP00000356853:R249H	R	+	2	0	UCK2	164143644	1.000000	0.71417	0.994000	0.49952	0.923000	0.55619	2.844000	0.48246	1.276000	0.44395	0.655000	0.94253	CGC		0.612	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096753.1	NM_012474		22	87	0	0	0	0	22	87				
DCAF6	55827	broad.mit.edu	37	1	168037616	168037616	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:168037616C>T	ENST00000312263.6	+	18	2637	c.2433C>T	c.(2431-2433)ctC>ctT	p.L811L	DCAF6_ENST00000367843.3_Silent_p.L831L|DCAF6_ENST00000367840.3_Silent_p.L902L|DCAF6_ENST00000432587.2_Silent_p.L871L	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	811					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAAACGAACTCATGCTGGAAG	0.373																																						uc001gew.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2431-2433)CTC>CTT		IQ motif and WD repeats 1 isoform b							113.0	105.0	107.0					1																	168037616		2203	4300	6503	SO:0001819	synonymous_variant	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:168037616C>T	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2433C>T	1.37:g.168037616C>T						DCAF6_uc001gev.2_Silent_p.L831L|DCAF6_uc001gex.2_Silent_p.L902L|DCAF6_uc010plk.1_Silent_p.L871L|DCAF6_uc001gey.2_Silent_p.L684L|DCAF6_uc001gez.2_Silent_p.L114L	p.L811L	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			18	2675	+			811					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	c.2433C>T	CCDS30933.1																																																																																				0.373	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442		9	49	0	0	0	0	9	49				
XCL2	6846	broad.mit.edu	37	1	168511261	168511261	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:168511261G>C	ENST00000367819.2	-	2	178	c.146C>G	c.(145-147)aCc>aGc	p.T49S		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	49					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TTCCGTGATGGTGTAGGTCTT	0.488																																						uc001gfn.3		NA																	0				ovary(1)	1						c.(145-147)ACC>AGC		chemokine (C motif) ligand 2 precursor							146.0	122.0	130.0					1																	168511261		2203	4300	6503	SO:0001583	missense	6846				blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	g.chr1:168511261G>C	BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"""Endogenous ligands"""	10646	protein-coding gene	gene with protein product		604828	"""small inducible cytokine subfamily C, member 2"""	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.146C>G	1.37:g.168511261G>C	ENSP00000356793:p.Thr49Ser						p.T49S	NM_003175	NP_003166	Q9UBD3	XCL2_HUMAN			2	179	-	all_hematologic(923;0.215)		49						Missense_Mutation	SNP	ENST00000367819.2	37	c.146C>G	CCDS1273.1	.	.	.	.	.	.	.	.	.	.	G	8.683	0.905706	0.17760	.	.	ENSG00000143185	ENST00000367819	T	0.04654	3.58	2.49	0.401	0.16338	Chemokine interleukin-8-like domain (3);	0.421939	0.22920	N	0.054036	T	0.05547	0.0146	L	0.59436	1.845	0.21290	N	0.999739	D	0.71674	0.998	D	0.69824	0.966	T	0.18745	-1.0327	9	0.49607	T	0.09	-11.0877	4.5493	0.12105	0.3534:0.0:0.6466:0.0	.	49	Q9UBD3	XCL2_HUMAN	S	49	ENSP00000356793:T49S	ENSP00000356793:T49S	T	-	2	0	XCL2	166777885	0.998000	0.40836	1.000000	0.80357	0.194000	0.23727	0.099000	0.15210	0.328000	0.23435	0.195000	0.17529	ACC		0.488	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083613.1	NM_003175		4	45	0	0	0	0	4	45				
XCL1	6375	broad.mit.edu	37	1	168549385	168549385	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:168549385C>G	ENST00000367818.3	+	2	311	c.146C>G	c.(145-147)aCc>aGc	p.T49S		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	49					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					AAGACCTACACCATCACGGAA	0.483																																						uc001gfo.1		NA																	0					0						c.(145-147)ACC>AGC		chemokine (C motif) ligand 1							162.0	150.0	154.0					1																	168549385		2203	4300	6503	SO:0001583	missense	6375				CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	g.chr1:168549385C>G	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"""Endogenous ligands"""	10645	protein-coding gene	gene with protein product		600250	"""small inducible cytokine subfamily C, member 1 (lymphotactin)"""	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.146C>G	1.37:g.168549385C>G	ENSP00000356792:p.Thr49Ser						p.T49S	NM_002995	NP_002986	P47992	XCL1_HUMAN			2	166	+	all_hematologic(923;0.208)		49					Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	c.146C>G	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589614	0.28357	.	.	ENSG00000143184	ENST00000367818	T	0.04654	3.58	4.36	1.41	0.22369	Chemokine interleukin-8-like domain (3);	0.421939	0.22920	N	0.054036	T	0.06416	0.0165	M	0.62088	1.915	0.21290	N	0.999739	D	0.71674	0.998	D	0.69824	0.966	T	0.14559	-1.0468	9	0.42905	T	0.14	-11.0877	6.1892	0.20513	0.0:0.6857:0.0:0.3143	.	49	P47992	XCL1_HUMAN	S	49	ENSP00000356792:T49S	ENSP00000356792:T49S	T	+	2	0	XCL1	166816009	0.967000	0.33354	1.000000	0.80357	0.231000	0.25187	-0.116000	0.10724	0.568000	0.29311	0.655000	0.94253	ACC		0.483	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		12	102	0	0	0	0	12	102				
FAM20B	9917	broad.mit.edu	37	1	179013306	179013306	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:179013306G>A	ENST00000263733.4	+	2	660	c.324G>A	c.(322-324)ctG>ctA	p.L108L		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	108						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GGACACAGCTGAAAGCCTTAC	0.448																																						uc001gmc.2		NA																	0				ovary(3)	3						c.(322-324)CTG>CTA		hypothetical protein LOC9917 precursor							67.0	70.0	69.0					1																	179013306		2203	4300	6503	SO:0001819	synonymous_variant	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179013306G>A	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.324G>A	1.37:g.179013306G>A							p.L108L	NM_014864	NP_055679	O75063	XYLK_HUMAN			2	617	+			108			Lumenal (Potential).		Q5W0C3|Q5W0C4	Silent	SNP	ENST00000263733.4	37	c.324G>A	CCDS1328.1																																																																																				0.448	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864		8	51	0	0	0	0	8	51				
NCF2	4688	broad.mit.edu	37	1	183529328	183529328	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:183529328C>G	ENST00000367535.3	-	14	1622	c.1371G>C	c.(1369-1371)aaG>aaC	p.K457N	NCF2_ENST00000418089.1_Missense_Mutation_p.K376N|NCF2_ENST00000367536.1_Missense_Mutation_p.K457N|NCF2_ENST00000413720.1_Missense_Mutation_p.K412N|NCF2_ENST00000469280.1_5'Flank	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	457	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	GGCTGCCTTTCTTAAGCTGAG	0.463																																						uc001gqj.3		NA																	0				ovary(3)	3						c.(1369-1371)AAG>AAC		neutrophil cytosolic factor 2							228.0	208.0	215.0					1																	183529328		2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183529328C>G	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1371G>C	1.37:g.183529328C>G	ENSP00000356505:p.Lys457Asn					NCF2_uc010pod.1_Missense_Mutation_p.K412N|NCF2_uc010poe.1_Missense_Mutation_p.K376N|NCF2_uc001gqk.3_Missense_Mutation_p.K457N	p.K457N	NM_000433	NP_000424	P19878	NCF2_HUMAN			14	1646	-			457			SH3 2.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.1371G>C	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	C	9.559	1.118045	0.20877	.	.	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535	T;T;T;T	0.71103	-0.54;-0.18;-0.06;-0.54	4.95	1.53	0.23141	Src homology-3 domain (2);	0.587018	0.18458	N	0.140601	T	0.59514	0.2199	L	0.40543	1.245	0.24495	N	0.99428	B;P;P	0.50272	0.244;0.933;0.713	B;B;B	0.42692	0.107;0.395;0.347	T	0.52689	-0.8542	10	0.46703	T	0.11	-0.3121	9.1276	0.36826	0.0:0.6559:0.0:0.3441	.	376;412;457	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	N	457;529;412;376;457	ENSP00000356506:K457N;ENSP00000399294:K412N;ENSP00000407217:K376N;ENSP00000356505:K457N	ENSP00000356505:K457N	K	-	3	2	NCF2	181795951	0.804000	0.28969	0.778000	0.31720	0.129000	0.20672	0.416000	0.21198	0.499000	0.27970	0.655000	0.94253	AAG		0.463	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1	NM_000433		7	167	0	0	0	0	7	167				
CNST	163882	broad.mit.edu	37	1	246810955	246810956	+	Nonsense_Mutation	DNP	GC	GC	CT			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:246810955_246810956GC>CT	ENST00000366513.4	+	9	1721_1722	c.1452_1453GC>CT	c.(1450-1455)ctGCag>ctCTag	p.Q485*	CNST_ENST00000366512.3_Nonsense_Mutation_p.Q485*|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	485					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TAAATGAGCTGCAGCAGCCTGA	0.465																																						uc001ibp.2		NA																	0					0						c.(1450-1455)CTGCAG>CTCTAG		hypothetical protein LOC163882 isoform 1																																				SO:0001587	stop_gained	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246810955_246810956GC>CT	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	Exception_encountered	1.37:g.246810955_246810956delinsCT	ENSP00000355470:p.Gln485*					CNST_uc001ibo.3_Nonsense_Mutation_p.Q485*	p.Q485*	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			9	1830_1831	+			485					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Nonsense_Mutation	DNP	ENST00000366513.4	37	c.1452_1453GC>CT	CCDS1628.1																																																																																				0.465	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		15	80	0	0	0	0	15	80				
OR2G2	81470	broad.mit.edu	37	1	247752501	247752501	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr1:247752501C>T	ENST00000320065.1	+	1	840	c.840C>T	c.(838-840)ttC>ttT	p.F280F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTCTCTCTTCTACACTGTGG	0.463																																						uc010pyy.1		NA																	0					0						c.(838-840)TTC>TTT		olfactory receptor, family 2, subfamily G,							139.0	137.0	138.0					1																	247752501		2203	4300	6503	SO:0001819	synonymous_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752501C>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.840C>T	1.37:g.247752501C>T							p.F280F	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	840	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		280			Helical; Name=7; (Potential).		Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	c.840C>T	CCDS31092.1																																																																																				0.463	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			12	152	0	0	0	0	12	152				
GTPBP4	23560	broad.mit.edu	37	10	1042133	1042133	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:1042133G>A	ENST00000360803.4	+	4	493	c.411G>A	c.(409-411)atG>atA	p.M137I	GTPBP4_ENST00000545048.1_Missense_Mutation_p.M90I|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Missense_Mutation_p.M21I	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	137					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TGGGACGGATGTGCACAGTGA	0.512																																						uc001ift.2		NA																	0				ovary(1)|skin(1)	2						c.(409-411)ATG>ATA		G protein-binding protein CRFG							110.0	77.0	88.0					10																	1042133		2203	4300	6503	SO:0001583	missense	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1042133G>A	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.411G>A	10.37:g.1042133G>A	ENSP00000354040:p.Met137Ile					GTPBP4_uc010qac.1_Translation_Start_Site|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.M21I|GTPBP4_uc010qae.1_Missense_Mutation_p.M90I	p.M137I	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	4	482	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	137					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.411G>A	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.990330	0.74589	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000360059;ENST00000545048	T;T;T;T	0.40225	2.61;1.04;2.61;2.61	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	M	0.79343	2.45	0.80722	D	1	P	0.46578	0.88	P	0.52909	0.713	T	0.63097	-0.6713	10	0.52906	T	0.07	-35.1877	19.4722	0.94967	0.0:0.0:1.0:0.0	.	137	Q9BZE4	NOG1_HUMAN	I	137;21;90;90	ENSP00000354040:M137I;ENSP00000444277:M21I;ENSP00000353168:M90I;ENSP00000445473:M90I	ENSP00000353168:M90I	M	+	3	0	GTPBP4	1032133	1.000000	0.71417	0.989000	0.46669	0.073000	0.16967	9.595000	0.98260	2.611000	0.88343	0.544000	0.68410	ATG		0.512	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		3	17	0	0	0	0	3	17				
EPC1	80314	broad.mit.edu	37	10	32582604	32582604	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:32582604C>T	ENST00000263062.8	-	3	644	c.375G>A	c.(373-375)gtG>gtA	p.V125V	EPC1_ENST00000319778.6_Silent_p.V125V|EPC1_ENST00000375110.2_Silent_p.V75V	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	125					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TCAGTTTATTCACAAATACTT	0.383																																						uc001iwg.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(373-375)GTG>GTA		enhancer of polycomb 1							63.0	60.0	61.0					10																	32582604		2203	4300	6503	SO:0001819	synonymous_variant	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32582604C>T	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.375G>A	10.37:g.32582604C>T						EPC1_uc001iwi.3_Silent_p.V75V|EPC1_uc009xlt.2_Silent_p.V75V|EPC1_uc001iwh.1_Silent_p.V125V	p.V125V	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN			3	645	-		Prostate(175;0.0199)	125					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Silent	SNP	ENST00000263062.8	37	c.375G>A	CCDS7172.1																																																																																				0.383	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			8	36	0	0	0	0	8	36				
ANKRD30A	91074	broad.mit.edu	37	10	37421251	37421251	+	Silent	SNP	G	G	C	rs548603411		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:37421251G>C	ENST00000602533.1	+	4	525	c.426G>C	c.(424-426)gcG>gcC	p.A142A	ANKRD30A_ENST00000374660.1_Silent_p.A142A|ANKRD30A_ENST00000361713.1_Silent_p.A142A|RNU6-811P_ENST00000384069.1_RNA			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	198					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATGCAAATGCGAATGCAGTTA	0.299																																						uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(424-426)GCG>GCC		ankyrin repeat domain 30A							56.0	53.0	54.0					10																	37421251		1793	4054	5847	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37421251G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.426G>C	10.37:g.37421251G>C							p.A142A	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			4	525	+			198			ANK 4.		Q5W025	Silent	SNP	ENST00000602533.1	37	c.426G>C																																																																																					0.299	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		6	76	0	0	0	0	6	76				
AIFM2	84883	broad.mit.edu	37	10	71874076	71874076	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:71874076G>A	ENST00000307864.1	-	9	1193	c.980C>T	c.(979-981)aCg>aTg	p.T327M	AIFM2_ENST00000373248.1_Missense_Mutation_p.T327M|AIFM2_ENST00000482166.1_5'Flank	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	327					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CAGGAGGAACGTCAGTGCACC	0.592																																						uc010qjg.1		NA																	0				central_nervous_system(1)	1						c.(979-981)ACG>ATG		apoptosis-inducing factor (AIF)-like							67.0	61.0	63.0					10																	71874076		2203	4300	6503	SO:0001583	missense	84883				apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	g.chr10:71874076G>A	AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"""apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"""	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.980C>T	10.37:g.71874076G>A	ENSP00000312370:p.Thr327Met					AIFM2_uc001jqp.1_Missense_Mutation_p.T327M	p.T327M	NM_032797	NP_116186	Q9BRQ8	AIFM2_HUMAN			8	993	-			327					B3KXI0|Q63Z39	Missense_Mutation	SNP	ENST00000307864.1	37	c.980C>T	CCDS7297.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604334	0.46423	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.30981	1.51;1.51	5.47	5.47	0.80525	.	0.102199	0.64402	D	0.000003	T	0.22126	0.0533	L	0.28458	0.855	0.54753	D	0.999983	B	0.34329	0.449	B	0.20955	0.032	T	0.03017	-1.1082	10	0.35671	T	0.21	-18.2624	17.1282	0.86720	0.0:0.0:1.0:0.0	.	327	Q9BRQ8	AIFM2_HUMAN	M	327;327;290	ENSP00000362345:T327M;ENSP00000312370:T327M	ENSP00000312370:T327M	T	-	2	0	AIFM2	71544082	1.000000	0.71417	0.991000	0.47740	0.781000	0.44180	5.310000	0.65780	2.572000	0.86782	0.650000	0.86243	ACG		0.592	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048487.1	NM_032797		12	39	0	0	0	0	12	39				
ARHGAP19	84986	broad.mit.edu	37	10	99025873	99025873	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:99025873G>C	ENST00000358531.4	-	2	94	c.66C>G	c.(64-66)atC>atG	p.I22M	ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.I22M|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.I13M|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.I22M|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.I13M|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.I22M	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	22					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CAAAACTGCAGATGGCATCAC	0.408																																						uc001knb.2		NA																	0					0						c.(64-66)ATC>ATG		Rho GTPase activating protein 19							75.0	74.0	74.0					10																	99025873		2203	4300	6503	SO:0001583	missense	84986				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity	g.chr10:99025873G>C	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.66C>G	10.37:g.99025873G>C	ENSP00000351333:p.Ile22Met					ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.I13M|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.I22M|ARHGAP19_uc009xvk.2_Intron	p.I22M	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)	2	95	-		Colorectal(252;0.0854)	22					A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	c.66C>G	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035216	0.54896	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000358308	T;T;T;T;T;T	0.10860	2.9;2.93;2.9;2.94;2.9;2.83	5.54	3.69	0.42338	.	0.418998	0.21495	U	0.073610	T	0.10208	0.0250	N	0.14661	0.345	0.32939	D	0.518127	P;P;P	0.42203	0.773;0.664;0.773	B;B;P	0.46389	0.297;0.156;0.515	T	0.11299	-1.0593	10	0.72032	D	0.01	-2.6179	11.8133	0.52195	0.1417:0.0:0.8583:0.0	.	22;22;13	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	M	22;22;13;22;13;22	ENSP00000414774:I22M;ENSP00000324468:I22M;ENSP00000347526:I13M;ENSP00000351333:I22M;ENSP00000360066:I13M;ENSP00000351058:I22M	ENSP00000324468:I22M	I	-	3	3	ARHGAP19	99015863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.391000	0.34475	0.698000	0.31739	0.557000	0.71058	ATC		0.408	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900		12	57	0	0	0	0	12	57				
NOLC1	9221	broad.mit.edu	37	10	103912186	103912186	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr10:103912186C>T	ENST00000605788.1	+	1	254	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	NOLC1_ENST00000405356.1_Missense_Mutation_p.R7C|NOLC1_ENST00000488254.2_Missense_Mutation_p.R7C|NOLC1_ENST00000603742.1_5'UTR	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	7					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CGCCGGCATTCGCCGCGTGGT	0.622																																						uc001kuo.2		NA																	0				ovary(1)	1						c.(19-21)CGC>TGC		nucleolar and coiled-body phosphoprotein 1							81.0	79.0	80.0					10																	103912186		2203	4300	6503	SO:0001583	missense	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103912186C>T	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.19C>T	10.37:g.103912186C>T	ENSP00000474710:p.Arg7Cys					NOLC1_uc001kup.2_Missense_Mutation_p.R7C|NOLC1_uc001kuq.2_Missense_Mutation_p.R7C|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_5'UTR	p.R7C	NM_004741	NP_004732	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	1	254	+		Colorectal(252;0.122)	7					Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	c.19C>T	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143456	0.57044	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.35048	1.33	5.4	4.42	0.53409	.	0.185759	0.38111	N	0.001801	T	0.52948	0.1766	M	0.70595	2.14	0.45216	D	0.998225	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.60886	0.855;0.88;0.72	T	0.55373	-0.8151	10	0.87932	D	0	-2.1781	11.4786	0.50312	0.0:0.9072:0.0:0.0928	.	7;7;7	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	C	7	ENSP00000385410:R7C	ENSP00000359024:R7C	R	+	1	0	NOLC1	103902176	0.910000	0.30920	0.997000	0.53966	0.601000	0.36947	0.857000	0.27831	2.813000	0.96785	0.561000	0.74099	CGC		0.622	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		12	72	0	0	0	0	12	72				
LMNTD2	256329	broad.mit.edu	37	11	557988	557988	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:557988C>G	ENST00000329451.3	-	5	513	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	RASSF7_ENST00000397582.3_5'Flank|RASSF7_ENST00000431809.1_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA|RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		151										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTCCATCTCCTGGAGCGTG	0.657																																						uc001lpx.2		NA																	0				pancreas(1)	1						c.(451-453)GAG>CAG		hypothetical protein LOC256329							27.0	30.0	29.0					11																	557988		2202	4298	6500	SO:0001583	missense	256329							g.chr11:557988C>G																												ENST00000329451.3:c.451G>C	11.37:g.557988C>G	ENSP00000331167:p.Glu151Gln					uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank	p.E151Q	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	514	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	151			Potential.			Missense_Mutation	SNP	ENST00000329451.3	37	c.451G>C	CCDS7701.1	.	.	.	.	.	.	.	.	.	.	C	4.772	0.143533	0.09134	.	.	ENSG00000185522	ENST00000329451;ENST00000441853;ENST00000486629	T;T;T	0.30182	1.54;1.54;1.54	3.36	2.42	0.29668	.	0.241343	0.21286	N	0.077065	T	0.10465	0.0256	N	0.03608	-0.345	0.19575	N	0.999964	B	0.14805	0.011	B	0.10450	0.005	T	0.35525	-0.9785	10	0.02654	T	1	-24.5709	8.5231	0.33289	0.0:0.3021:0.6979:0.0	.	151	Q8IXW0	CK035_HUMAN	Q	151;158;161	ENSP00000331167:E151Q;ENSP00000393529:E158Q;ENSP00000435529:E161Q	ENSP00000331167:E151Q	E	-	1	0	C11orf35	547988	0.967000	0.33354	0.648000	0.29521	0.020000	0.10135	0.513000	0.22770	0.739000	0.32628	0.456000	0.33151	GAG		0.657	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			11	25	0	0	0	0	11	25				
LMNTD2	256329	broad.mit.edu	37	11	558188	558188	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:558188C>G	ENST00000329451.3	-	4	434	c.372G>C	c.(370-372)ttG>ttC	p.L124F	RASSF7_ENST00000397582.3_5'Flank|RASSF7_ENST00000431809.1_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000344375.4_5'Flank|RASSF7_ENST00000397583.3_5'Flank|RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		124										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGTTCCTTCAACTCCTGGA	0.652																																						uc001lpx.2		NA																	0				pancreas(1)	1						c.(370-372)TTG>TTC		hypothetical protein LOC256329							91.0	80.0	83.0					11																	558188		2203	4300	6503	SO:0001583	missense	256329							g.chr11:558188C>G																												ENST00000329451.3:c.372G>C	11.37:g.558188C>G	ENSP00000331167:p.Leu124Phe					uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank	p.L124F	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	435	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	124			Potential.			Missense_Mutation	SNP	ENST00000329451.3	37	c.372G>C	CCDS7701.1	.	.	.	.	.	.	.	.	.	.	C	9.048	0.991407	0.18966	.	.	ENSG00000185522	ENST00000329451;ENST00000441853;ENST00000486629	T;T;T	0.32988	1.43;1.43;1.43	3.58	0.543	0.17179	.	0.000000	0.30235	N	0.010093	T	0.27594	0.0678	L	0.27053	0.805	0.09310	N	1	D	0.56968	0.978	P	0.56278	0.795	T	0.09862	-1.0655	10	0.62326	D	0.03	-15.5811	3.6219	0.08099	0.0:0.5473:0.2095:0.2432	.	124	Q8IXW0	CK035_HUMAN	F	124;131;134	ENSP00000331167:L124F;ENSP00000393529:L131F;ENSP00000435529:L134F	ENSP00000331167:L124F	L	-	3	2	C11orf35	548188	0.007000	0.16637	0.238000	0.24106	0.005000	0.04900	0.221000	0.17680	-0.051000	0.13334	-0.390000	0.06520	TTG		0.652	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			7	26	0	0	0	0	7	26				
OR51A2	401667	broad.mit.edu	37	11	4976057	4976057	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:4976057T>G	ENST00000380371.1	-	1	886	c.887A>C	c.(886-888)aAa>aCa	p.K296T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTTTAGTTTTTACACAATA	0.388																																						uc010qyt.1		NA																	0					0						c.(886-888)AAA>ACA		olfactory receptor, family 51, subfamily A,							72.0	60.0	64.0					11																	4976057		2025	3701	5726	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976057T>G	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.887A>C	11.37:g.4976057T>G	ENSP00000369729:p.Lys296Thr						p.K296T	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	887	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	296			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000380371.1	37	c.887A>C	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	13.34	2.208975	0.39003	.	.	ENSG00000205496	ENST00000380371	T	0.36699	1.24	3.45	3.45	0.39498	.	.	.	.	.	T	0.68293	0.2985	H	0.97516	4.02	0.09310	N	0.999999	D	0.89917	1.0	D	0.69307	0.963	T	0.61148	-0.7121	9	0.87932	D	0	.	6.4615	0.21958	0.0:0.1157:0.0:0.8843	.	296	Q8NGJ7	O51A2_HUMAN	T	296	ENSP00000369729:K296T	ENSP00000369729:K296T	K	-	2	0	OR51A2	4932633	0.037000	0.19845	0.018000	0.16275	0.003000	0.03518	0.223000	0.17719	1.575000	0.49775	0.412000	0.27726	AAA		0.388	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		6	73	0	0	0	0	6	73				
OR51A2	401667	broad.mit.edu	37	11	4976440	4976440	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:4976440C>G	ENST00000380371.1	-	1	503	c.504G>C	c.(502-504)ttG>ttC	p.L168F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCAATATCTCAAGCTTCTTA	0.423																																						uc010qyt.1		NA																	0					0						c.(502-504)TTG>TTC		olfactory receptor, family 51, subfamily A,							149.0	130.0	136.0					11																	4976440		2090	3995	6085	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976440C>G	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.504G>C	11.37:g.4976440C>G	ENSP00000369729:p.Leu168Phe						p.L168F	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	504	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	168			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000380371.1	37	c.504G>C	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	9.538	1.112694	0.20795	.	.	ENSG00000205496	ENST00000380371	T	0.39406	1.08	3.13	-1.71	0.08133	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.53997	0.1831	M	0.71920	2.185	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44498	-0.9324	9	0.31617	T	0.26	.	4.8813	0.13681	0.0:0.3204:0.1641:0.5154	.	168	Q8NGJ7	O51A2_HUMAN	F	168	ENSP00000369729:L168F	ENSP00000369729:L168F	L	-	3	2	OR51A2	4933016	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-6.258000	0.00073	-0.499000	0.06623	0.395000	0.25975	TTG		0.423	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		41	211	0	0	0	0	41	211				
OR4D6	219983	broad.mit.edu	37	11	59224497	59224497	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:59224497G>A	ENST00000300127.2	+	1	87	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ACGTTCCCGAGAGCTGGAGTT	0.468																																						uc010rku.1		NA																	0				ovary(1)	1						c.(64-66)GAG>AAG		olfactory receptor, family 4, subfamily D,							250.0	230.0	237.0					11																	59224497		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224497G>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.64G>A	11.37:g.59224497G>A	ENSP00000300127:p.Glu22Lys						p.E22K	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	64	+			22			Extracellular (Potential).		B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.64G>A	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933866	0.18206	.	.	ENSG00000166884	ENST00000300127	T	0.00441	7.41	5.9	3.92	0.45320	.	0.000000	0.53938	D	0.000053	T	0.00384	0.0012	L	0.39566	1.225	0.09310	N	0.999999	B	0.27416	0.178	B	0.29524	0.103	T	0.49899	-0.8890	10	0.33940	T	0.23	-13.2585	15.097	0.72242	0.0:0.2687:0.7313:0.0	.	22	Q8NGJ1	OR4D6_HUMAN	K	22	ENSP00000300127:E22K	ENSP00000300127:E22K	E	+	1	0	OR4D6	58981073	0.019000	0.18553	0.039000	0.18376	0.218000	0.24690	1.667000	0.37471	1.487000	0.48415	0.655000	0.94253	GAG		0.468	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		6	112	0	0	0	0	6	112				
TPCN2	219931	broad.mit.edu	37	11	68822767	68822767	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:68822767G>A	ENST00000294309.3	+	4	477	c.376G>A	c.(376-378)Gag>Aag	p.E126K	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.E126K	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	126					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGGCCTGACCGAGAGTGTCGA	0.672																																						uc001oos.2		NA																	0					0						c.(376-378)GAG>AAG		two pore segment channel 2							74.0	71.0	72.0					11																	68822767		2199	4294	6493	SO:0001583	missense	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822767G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.376G>A	11.37:g.68822767G>A	ENSP00000294309:p.Glu126Lys					TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Missense_Mutation_p.E126K	p.E126K	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	492	+			126			Extracellular (Potential).		Q9NT82	Missense_Mutation	SNP	ENST00000294309.3	37	c.376G>A	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.533991	0.64972	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000542467	D;D	0.97480	-4.4;-4.4	4.96	3.08	0.35506	.	0.000000	0.85682	D	0.000000	D	0.97810	0.9281	M	0.74881	2.28	0.51482	D	0.999925	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97180	0.9850	10	0.59425	D	0.04	-21.9498	10.2061	0.43114	0.0756:0.1371:0.7872:0.0	.	126;126	E7ETX0;Q8NHX9	.;TPC2_HUMAN	K	56;126;126	ENSP00000294309:E126K;ENSP00000445551:E126K	ENSP00000294309:E126K	E	+	1	0	TPCN2	68579343	1.000000	0.71417	0.034000	0.17996	0.277000	0.26821	6.393000	0.73217	0.615000	0.30124	-0.264000	0.10439	GAG		0.672	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		15	59	0	0	0	0	15	59				
SHANK2	22941	broad.mit.edu	37	11	70331427	70331427	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:70331427G>A	ENST00000423696.2	-	15	3870	c.3834C>T	c.(3832-3834)ctC>ctT	p.L1278L	SHANK2_ENST00000449833.2_Silent_p.L1062L|SHANK2_ENST00000409161.1_Silent_p.L1061L|SHANK2_ENST00000338508.4_Silent_p.L1658L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1278					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCTTGGAGCGAGGCTGGCGG	0.577																																						uc001oqc.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(4969-4971)CTC>CTT		SH3 and multiple ankyrin repeat domains 2							60.0	58.0	59.0					11																	70331427		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331427G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3834C>T	11.37:g.70331427G>A						SHANK2_uc010rqn.1_Silent_p.L1069L|SHANK2_uc001opz.2_Silent_p.L1062L|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.L1657L	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	5049	-			1278					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.4971C>T																																																																																					0.577	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		10	47	0	0	0	0	10	47				
KRTAP5-8	57830	broad.mit.edu	37	11	71249246	71249246	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:71249246A>C	ENST00000398534.3	+	1	176	c.145A>C	c.(145-147)Agc>Cgc	p.S49R		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	49	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TTCCTGCTCCAGCTGTGGCTC	0.682																																						uc001oqr.1		NA																	0					0						c.(145-147)AGC>CGC		keratin associated protein 5-8							92.0	123.0	113.0					11																	71249246		2193	4288	6481	SO:0001583	missense	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249246A>C	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.145A>C	11.37:g.71249246A>C	ENSP00000420723:p.Ser49Arg						p.S49R	NM_021046	NP_066384	O75690	KRA58_HUMAN			1	176	+			49			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	c.145A>C	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	6.913	0.538037	0.13188	.	.	ENSG00000241233	ENST00000398534	T	0.02050	4.48	1.57	0.358	0.16084	.	.	.	.	.	T	0.04543	0.0124	M	0.92219	3.285	0.21675	N	0.999594	D	0.53885	0.963	B	0.36534	0.227	T	0.32134	-0.9918	9	0.72032	D	0.01	.	4.5534	0.12124	0.4574:0.0:0.0:0.5426	.	49	O75690	KRA58_HUMAN	R	49	ENSP00000420723:S49R	ENSP00000420723:S49R	S	+	1	0	KRTAP5-8	70926894	0.984000	0.35163	0.976000	0.42696	0.621000	0.37620	-1.391000	0.02525	0.087000	0.17167	-0.449000	0.05564	AGC		0.682	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		14	321	0	0	0	0	14	321				
MAP6	4135	broad.mit.edu	37	11	75316987	75316987	+	Silent	SNP	C	C	T	rs139425764	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr11:75316987C>T	ENST00000304771.3	-	3	1932	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	MAP6_ENST00000434603.2_Silent_p.T394T|MAP6_ENST00000526740.1_Silent_p.T65T	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	394	Calmodulin-binding. {ECO:0000250}.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TGGCCTTCCTCGTGGGCTTAT	0.532													C|||	57	0.0113818	0.0008	0.0058	5008	,	,		16343	0.002		0.007	False		,,,				2504	0.044				Esophageal Squamous(181;1115 2007 8647 17065 22697)	uc001owu.2		NA																	0					0						c.(1180-1182)ACG>ACA		microtubule-associated protein 6 isoform 1		C	,	4,4396	9.9+/-24.2	0,4,2196	96.0	89.0	91.0		1182,1182	-1.7	0.7	11	dbSNP_134	91	92,8494	52.7+/-113.3	0,92,4201	no	coding-synonymous,coding-synonymous	MAP6	NM_033063.1,NM_207577.1	,	0,96,6397	TT,TC,CC		1.0715,0.0909,0.7393	,	394/814,394/440	75316987	96,12890	2200	4293	6493	SO:0001819	synonymous_variant	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75316987C>T	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1182G>A	11.37:g.75316987C>T						MAP6_uc001owv.2_Silent_p.T394T	p.T394T	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN			3	1247	-	Ovarian(111;0.11)		394			Calmodulin-binding (By similarity).		A7E2A1|Q6P3T0|Q6ZWB8	Silent	SNP	ENST00000304771.3	37	c.1182G>A	CCDS31641.1																																																																																				0.532	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		14	40	0	0	0	0	14	40				
LRP6	4040	broad.mit.edu	37	12	12284974	12284974	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:12284974G>A	ENST00000261349.4	-	18	3827	c.3751C>T	c.(3751-3753)Cct>Tct	p.P1251S	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Intron|LRP6_ENST00000540415.1_5'UTR	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1251	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AACTGCTGAGGAGAACATGTT	0.453																																						uc001rah.3		NA																	0				lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(3751-3753)CCT>TCT		low density lipoprotein receptor-related protein							84.0	79.0	81.0					12																	12284974		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12284974G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3751C>T	12.37:g.12284974G>A	ENSP00000261349:p.Pro1251Ser					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Intron	p.P1251S	NM_002336	NP_002327	O75581	LRP6_HUMAN			18	3893	-		Prostate(47;0.0865)	1251			Extracellular (Potential).|LDL-receptor class A 1.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3751C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625350	0.66901	.	.	ENSG00000070018	ENST00000261349	D	0.95622	-3.76	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000009	D	0.95890	0.8662	L	0.46614	1.455	0.80722	D	1	P	0.40534	0.72	P	0.51079	0.658	D	0.94649	0.7837	10	0.38643	T	0.18	.	20.1629	0.98139	0.0:0.0:1.0:0.0	.	1251	O75581	LRP6_HUMAN	S	1251	ENSP00000261349:P1251S	ENSP00000261349:P1251S	P	-	1	0	LRP6	12176241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.195000	0.65131	2.760000	0.94817	0.655000	0.94253	CCT		0.453	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			5	74	0	0	0	0	5	74				
EPS8	2059	broad.mit.edu	37	12	15800065	15800065	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:15800065C>T	ENST00000281172.5	-	15	2000	c.1564G>A	c.(1564-1566)Gat>Aat	p.D522N	EPS8_ENST00000540613.1_Missense_Mutation_p.D262N|EPS8_ENST00000543523.1_Missense_Mutation_p.D522N|EPS8_ENST00000542903.1_Missense_Mutation_p.D262N|EPS8_ENST00000543612.1_Missense_Mutation_p.D522N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	522					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TGTTACCTATCTATATGGCGA	0.448																																						uc009zif.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1564-1566)GAT>AAT		epidermal growth factor receptor pathway							117.0	107.0	110.0					12																	15800065		2203	4300	6503	SO:0001583	missense	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15800065C>T	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1564G>A	12.37:g.15800065C>T	ENSP00000281172:p.Asp522Asn					EPS8_uc001rdb.2_Missense_Mutation_p.D522N|EPS8_uc009zig.2_Missense_Mutation_p.D262N|EPS8_uc010shv.1_Missense_Mutation_p.D262N	p.D522N	NM_004447	NP_004438	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	15	1658	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	522					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.1564G>A	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189955	0.38707	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.07021	3.37;3.37;3.37;3.23;3.23	4.26	4.26	0.50523	Src homology-3 domain (1);	0.141721	0.43747	D	0.000527	T	0.08846	0.0219	L	0.41236	1.265	0.39737	D	0.971691	B	0.15930	0.015	B	0.16722	0.016	T	0.19321	-1.0309	10	0.25106	T	0.35	.	15.3977	0.74808	0.0:1.0:0.0:0.0	.	522	Q12929	EPS8_HUMAN	N	522;522;522;262;262;522	ENSP00000441867:D522N;ENSP00000281172:D522N;ENSP00000442388:D522N;ENSP00000441888:D262N;ENSP00000437806:D262N	ENSP00000281172:D522N	D	-	1	0	EPS8	15691332	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.155000	0.58131	2.373000	0.80994	0.563000	0.77884	GAT		0.448	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			7	74	0	0	0	0	7	74				
SLCO1C1	53919	broad.mit.edu	37	12	20890094	20890094	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:20890094G>C	ENST00000266509.2	+	11	1804	c.1436G>C	c.(1435-1437)aGa>aCa	p.R479T	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.R361T|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R430T|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R479T|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.R479T	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	479	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TGCAACTCAAGATGCAAATGT	0.388																																						uc001rej.3		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1435-1437)AGA>ACA		solute carrier organic anion transporter family,							96.0	89.0	91.0					12																	20890094		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20890094G>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1436G>C	12.37:g.20890094G>C	ENSP00000266509:p.Arg479Thr					SLCO1C1_uc010sii.1_Missense_Mutation_p.R479T|SLCO1C1_uc010sij.1_Missense_Mutation_p.R430T|SLCO1C1_uc009zip.2_Missense_Mutation_p.R313T|SLCO1C1_uc001rei.2_Missense_Mutation_p.R479T|SLCO1C1_uc010sik.1_Missense_Mutation_p.R361T	p.R479T	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			12	1791	+	Esophageal squamous(101;0.149)		479			Extracellular (Potential).|Kazal-like.		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1436G>C	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213123	0.39102	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.02	4.13	0.48395	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.202236	0.51477	D	0.000081	T	0.48409	0.1498	N	0.20685	0.6	0.28142	N	0.929739	B;B;B;B	0.33212	0.186;0.063;0.402;0.249	B;B;B;B	0.41135	0.159;0.247;0.348;0.348	T	0.42189	-0.9466	10	0.19147	T	0.46	.	9.4493	0.38717	0.1624:0.0:0.8376:0.0	.	361;430;479;479	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	T	479;430;479;479;361	ENSP00000444149:R479T;ENSP00000438665:R430T;ENSP00000266509:R479T;ENSP00000370964:R479T;ENSP00000444527:R361T	ENSP00000266509:R479T	R	+	2	0	SLCO1C1	20781361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.756000	0.38390	1.485000	0.48380	0.650000	0.86243	AGA		0.388	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		3	37	0	0	0	0	3	37				
SYT10	341359	broad.mit.edu	37	12	33532834	33532834	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:33532834C>T	ENST00000228567.3	-	6	1729	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	SYT10_ENST00000535526.1_Missense_Mutation_p.R297Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	478					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCAGTGGTCTCGCCCAAGACC	0.458																																						uc001rll.1		NA																	0				ovary(1)|skin(1)	2						c.(1432-1434)CGA>CAA		synaptotagmin X							248.0	202.0	218.0					12																	33532834		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33532834C>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1433G>A	12.37:g.33532834C>T	ENSP00000228567:p.Arg478Gln					SYT10_uc009zju.1_Missense_Mutation_p.R288Q	p.R478Q	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			6	1730	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		478			Cytoplasmic (Potential).		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1433G>A	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301675	0.95601	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.71341	-0.56;-0.56	4.3	4.3	0.51218	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.35349	U	0.003278	T	0.76198	0.3954	L	0.55481	1.735	0.58432	D	0.999995	D	0.71674	0.998	P	0.57283	0.817	T	0.71866	-0.4463	10	0.22109	T	0.4	.	17.0422	0.86492	0.0:1.0:0.0:0.0	.	478	Q6XYQ8	SYT10_HUMAN	Q	478;297	ENSP00000228567:R478Q;ENSP00000438691:R297Q	ENSP00000228567:R478Q	R	-	2	0	SYT10	33424101	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	7.329000	0.79170	2.679000	0.91253	0.650000	0.86243	CGA		0.458	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		22	89	0	0	0	0	22	89				
NCKAP5L	57701	broad.mit.edu	37	12	50186313	50186313	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:50186313G>A	ENST00000335999.6	-	12	3909	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1232	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TAGTATTGGGGAAGGTCCAGT	0.632																																						uc009zlk.2		NA																	0				central_nervous_system(1)	1						c.(3706-3708)TTC>TTT		NCK-associated protein 5-like							47.0	54.0	52.0					12																	50186313		1899	4123	6022	SO:0001819	synonymous_variant	57701							g.chr12:50186313G>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.3708C>T	12.37:g.50186313G>A						NCKAP5L_uc001rvc.3_Silent_p.F440F|NCKAP5L_uc001rvb.2_Silent_p.F829F	p.F1236F	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			12	3910	-			1232			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	c.3708C>T	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	G	9.374	1.071325	0.20147	.	.	ENSG00000167566	ENST00000433948	.	.	.	5.15	3.28	0.37604	.	.	.	.	.	T	0.57080	0.2029	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53394	-0.8445	4	.	.	.	-18.8808	8.2578	0.31766	0.25:0.0:0.75:0.0	.	.	.	.	S	951	.	.	P	-	1	0	NCKAP5L	48472580	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.043000	0.41231	1.302000	0.44855	0.561000	0.74099	CCC		0.632	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		5	46	0	0	0	0	5	46				
CMKLR1	1240	broad.mit.edu	37	12	108686010	108686010	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:108686010C>T	ENST00000312143.7	-	3	1093	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	CMKLR1_ENST00000412676.1_Missense_Mutation_p.V244M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.V244M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.V242M|CMKLR1_ENST00000397688.2_Missense_Mutation_p.V242M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	244					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.V242M(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AGTTTGCACACGATGGTGAGG	0.557																																						uc009zuw.2		NA																	1	Substitution - Missense(1)		endometrium(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(730-732)GTG>ATG		chemokine-like receptor 1 isoform a							69.0	75.0	73.0					12																	108686010		2131	4240	6371	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108686010C>T	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.730G>A	12.37:g.108686010C>T	ENSP00000311733:p.Val244Met					CMKLR1_uc001tmw.2_Missense_Mutation_p.V244M|CMKLR1_uc001tmv.2_Missense_Mutation_p.V242M|CMKLR1_uc009zuv.2_Missense_Mutation_p.V244M	p.V244M	NM_001142345	NP_001135817	Q99788	CML1_HUMAN			3	921	-			244			Helical; Name=5; (Potential).		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.730G>A	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	c	16.96	3.266873	0.59540	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.45	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.340396	0.30151	N	0.010281	T	0.52306	0.1726	M	0.81682	2.555	0.35792	D	0.822446	D	0.57899	0.981	P	0.47786	0.557	T	0.68318	-0.5440	10	0.51188	T	0.08	.	13.2139	0.59844	0.0:0.9232:0.0:0.0768	.	244	Q99788	CML1_HUMAN	M	244;244;242;242;244	ENSP00000311733:V244M;ENSP00000401293:V244M;ENSP00000380803:V242M;ENSP00000447579:V242M;ENSP00000449716:V244M	ENSP00000311733:V244M	V	-	1	0	CMKLR1	107210140	0.993000	0.37304	0.999000	0.59377	0.868000	0.49771	2.450000	0.44943	1.294000	0.44707	0.550000	0.68814	GTG		0.557	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			4	38	0	0	0	0	4	38				
KSR2	283455	broad.mit.edu	37	12	117977627	117977627	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:117977627C>T	ENST00000339824.5	-	10	2311	c.1584G>A	c.(1582-1584)acG>acA	p.T528T	KSR2_ENST00000425217.1_Silent_p.T499T|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.T225T			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	528	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGAGGAGGGCGTGGAGGACG	0.632																																						uc001two.2		NA																	0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(1495-1497)ACG>ACA		kinase suppressor of ras 2							89.0	109.0	102.0					12																	117977627		2151	4235	6386	SO:0001819	synonymous_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977627C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1584G>A	12.37:g.117977627C>T							p.T499T	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			10	1552	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		528			Pro-rich.		A0PJT2|Q3B828|Q8N775	Silent	SNP	ENST00000339824.5	37	c.1497G>A																																																																																					0.632	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		11	34	0	0	0	0	11	34				
DNAH10	196385	broad.mit.edu	37	12	124330339	124330339	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:124330339C>T	ENST00000409039.3	+	30	5224	c.5199C>T	c.(5197-5199)aaC>aaT	p.N1733N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1733	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N1733N(1)|p.N325N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAAGCAAAAACGACAGGAAAA	0.473																																						uc001uft.3		NA																	2	Substitution - coding silent(2)		large_intestine(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(5197-5199)AAC>AAT		dynein, axonemal, heavy chain 10							135.0	142.0	140.0					12																	124330339		2022	4179	6201	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124330339C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5199C>T	12.37:g.124330339C>T							p.N1733N	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	30	5224	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1733			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.5199C>T	CCDS9255.2																																																																																				0.473	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			6	75	0	0	0	0	6	75				
DDX51	317781	broad.mit.edu	37	12	132626474	132626474	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr12:132626474C>T	ENST00000397333.3	-	6	954	c.916G>A	c.(916-918)Gat>Aat	p.D306N	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	306	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGTGTGGCATCTGTGTAGATG	0.547																																						uc001ujy.3		NA																	0				lung(1)|pancreas(1)	2						c.(916-918)GAT>AAT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							55.0	57.0	57.0					12																	132626474		1974	4164	6138	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132626474C>T	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.916G>A	12.37:g.132626474C>T	ENSP00000380495:p.Asp306Asn					NOC4L_uc001ujz.1_5'Flank	p.D306N	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	6	955	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	306			Helicase ATP-binding.		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.916G>A	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373606	0.42105	.	.	ENSG00000185163	ENST00000397333	T	0.14516	2.5	4.71	4.71	0.59529	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.106801	0.64402	D	0.000007	T	0.09949	0.0244	N	0.11341	0.13	0.80722	D	1	B	0.30973	0.302	B	0.36608	0.229	T	0.36187	-0.9758	10	0.29301	T	0.29	-18.4149	15.1647	0.72814	0.0:1.0:0.0:0.0	.	306	Q8N8A6	DDX51_HUMAN	N	306	ENSP00000380495:D306N	ENSP00000380495:D306N	D	-	1	0	DDX51	131192427	1.000000	0.71417	0.203000	0.23512	0.071000	0.16799	5.113000	0.64640	2.161000	0.67846	0.491000	0.48974	GAT		0.547	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		4	34	0	0	0	0	4	34				
FRY	10129	broad.mit.edu	37	13	32757152	32757152	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr13:32757152C>G	ENST00000380250.3	+	24	3531	c.3035C>G	c.(3034-3036)gCt>gGt	p.A1012G		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1012						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)		ATGAAAGAAGCTCTGGAAAGA	0.323																																						uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(3034-3036)GCT>GGT		furry homolog							56.0	56.0	56.0					13																	32757152		1794	4063	5857	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32757152C>G	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.3035C>G	13.37:g.32757152C>G	ENSP00000369600:p.Ala1012Gly					FRY_uc010tdw.1_RNA	p.A1012G	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)	24	3531	+		Lung SC(185;0.0271)	1012					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.3035C>G	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307879	0.81247	.	.	ENSG00000073910	ENST00000380250	T	0.65364	-0.15	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	M	0.78049	2.395	0.80722	D	1	D	0.71674	0.998	D	0.62955	0.909	T	0.76130	-0.3072	10	0.31617	T	0.26	.	19.1464	0.93471	0.0:1.0:0.0:0.0	.	1012	Q5TBA9	FRY_HUMAN	G	1012	ENSP00000369600:A1012G	ENSP00000369600:A1012G	A	+	2	0	FRY	31655152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.874000	0.63064	2.569000	0.86673	0.655000	0.94253	GCT		0.323	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		32	34	0	0	0	0	32	34				
TRPC4	7223	broad.mit.edu	37	13	38320194	38320194	+	Silent	SNP	C	C	T	rs115609911	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr13:38320194C>T	ENST00000379705.3	-	3	1634	c.777G>A	c.(775-777)acG>acA	p.T259T	TRPC4_ENST00000379673.2_Silent_p.T259T|TRPC4_ENST00000355779.2_Silent_p.T259T|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Silent_p.T259T|TRPC4_ENST00000358477.2_Silent_p.T259T|TRPC4_ENST00000379681.3_Silent_p.T259T|TRPC4_ENST00000447043.1_Silent_p.T259T			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	259	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGGAACTTCTCGTCTGATCCA	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		20095	0.002		0.0	False		,,,				2504	0.0					uc001uws.2		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(775-777)ACG>ACA		transient receptor potential cation channel,							167.0	157.0	160.0					13																	38320194		2203	4300	6503	SO:0001819	synonymous_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38320194C>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.777G>A	13.37:g.38320194C>T						TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Silent_p.T259T|TRPC4_uc010tey.1_Silent_p.T259T|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Silent_p.T259T|TRPC4_uc010aby.2_Silent_p.T259T	p.T259T	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	3	1012	-			259			Potential.|Cytoplasmic (Potential).|Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	c.777G>A	CCDS9365.1																																																																																				0.408	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		11	115	0	0	0	0	11	115				
COL4A1	1282	broad.mit.edu	37	13	110827073	110827073	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr13:110827073G>A	ENST00000375820.4	-	38	3343	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1074	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCTTCCTGGGAAACCCGCTA	0.498																																						uc001vqw.3		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(3220-3222)TTC>TTT		alpha 1 type IV collagen preproprotein							144.0	155.0	151.0					13																	110827073		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110827073G>A	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3222C>T	13.37:g.110827073G>A						COL4A1_uc010agl.2_Intron	p.F1074F	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		38	3344	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1074			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.3222C>T	CCDS9511.1																																																																																				0.498	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			16	180	0	0	0	0	16	180				
TFDP1	7027	broad.mit.edu	37	13	114290326	114290326	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr13:114290326G>A	ENST00000375370.5	+	9	934	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	TFDP1_ENST00000538138.1_Missense_Mutation_p.R146Q|TFDP1_ENST00000544902.1_Missense_Mutation_p.R146Q	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	241	DCB1.|Dimerization. {ECO:0000255}.|Enhances binding of RB protein to E2F.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CAGAGAAACCGGCATGCGGAG	0.587										TSP Lung(29;0.18)																												uc001vtw.2		NA																	0				lung(4)|ovary(2)|skin(1)	7						c.(721-723)CGG>CAG		transcription factor Dp-1							66.0	65.0	65.0					13																	114290326		2203	4300	6503	SO:0001583	missense	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114290326G>A	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.722G>A	13.37:g.114290326G>A	ENSP00000364519:p.Arg241Gln	TSP Lung(29;0.18)				TFDP1_uc010tkd.1_Missense_Mutation_p.R146Q|TFDP1_uc010tke.1_Missense_Mutation_p.R146Q|TFDP1_uc001vty.3_Missense_Mutation_p.R241Q|TFDP1_uc001vtx.2_Missense_Mutation_p.R121Q	p.R241Q	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		9	934	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	241			Dimerization (Potential).|Enhances binding of RB protein to E2F.|DCB1.		B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	c.722G>A	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.232092	0.58777	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902	T;T;T	0.44083	0.93;1.87;0.93	4.02	4.02	0.46733	Transcription factor DP, C-terminal (1);	0.051661	0.85682	D	0.000000	T	0.26376	0.0644	L	0.33710	1.025	0.58432	D	0.999999	P;B;P	0.42456	0.78;0.008;0.497	B;B;B	0.22880	0.042;0.005;0.021	T	0.12811	-1.0533	10	0.32370	T	0.25	.	16.16	0.81698	0.0:0.0:1.0:0.0	.	146;146;241	F5H452;B4DLQ9;Q14186	.;.;TFDP1_HUMAN	Q	146;241;146	ENSP00000443878:R146Q;ENSP00000364519:R241Q;ENSP00000438450:R146Q	ENSP00000364519:R241Q	R	+	2	0	TFDP1	113338327	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.333000	0.52090	1.785000	0.52413	0.491000	0.48974	CGG		0.587	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		9	70	0	0	0	0	9	70				
PTGER2	5732	broad.mit.edu	37	14	52794009	52794009	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:52794009C>G	ENST00000245457.5	+	2	1068	c.914C>G	c.(913-915)tCa>tGa	p.S305*	PTGER2_ENST00000557436.1_Nonsense_Mutation_p.S50*	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	305					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	AGGTTTTTATCAATTAATTCA	0.388																																						uc001wzr.2		NA																	0				lung(1)|breast(1)	2						c.(913-915)TCA>TGA		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						78.0	80.0	79.0					14																	52794009		2203	4300	6503	SO:0001587	stop_gained	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52794009C>G		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.914C>G	14.37:g.52794009C>G	ENSP00000245457:p.Ser305*						p.S305*	NM_000956	NP_000947	P43116	PE2R2_HUMAN			2	1165	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		305			Helical; Name=7; (Potential).		D3DSC0|Q52LG8	Nonsense_Mutation	SNP	ENST00000245457.5	37	c.914C>G	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	C	36	5.951475	0.97139	.	.	ENSG00000125384	ENST00000557436;ENST00000245457	.	.	.	5.65	5.65	0.86999	.	0.061402	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.2405	17.6151	0.88065	0.0:1.0:0.0:0.0	.	.	.	.	X	50;305	.	ENSP00000245457:S305X	S	+	2	0	PTGER2	51863759	0.999000	0.42202	0.969000	0.41365	0.994000	0.84299	5.301000	0.65727	2.835000	0.97688	0.650000	0.86243	TCA		0.388	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			13	47	0	0	0	0	13	47				
SYNE2	23224	broad.mit.edu	37	14	64691756	64691756	+	Missense_Mutation	SNP	G	G	A	rs146398606	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:64691756G>A	ENST00000344113.4	+	114	20655	c.20443G>A	c.(20443-20445)Gag>Aag	p.E6815K	SYNE2_ENST00000555022.1_Missense_Mutation_p.E693K|SYNE2_ENST00000458046.2_Missense_Mutation_p.E486K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E3200K|SYNE2_ENST00000357395.3_Missense_Mutation_p.E3200K|SYNE2_ENST00000554584.1_Missense_Mutation_p.R6735K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3471K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6837K|SYNE2_ENST00000441438.2_Missense_Mutation_p.E359K|SYNE2_ENST00000554805.1_Missense_Mutation_p.E598K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6815					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)		GGAGGAGACAGAGAGCAGGTA	0.488																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(20443-20445)GAG>AAG		spectrin repeat containing, nuclear envelope 2		G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	5,4401	9.9+/-24.2	0,5,2198	78.0	76.0	76.0		20443,1075,1456,20509	4.0	0.7	14	dbSNP_134	76	0,8600		0,0,4300	yes	missense,missense,missense,missense	SYNE2	NM_015180.4,NM_182910.2,NM_182913.2,NM_182914.2	56,56,56,56	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign,benign,benign,benign	6815/6886,359/430,486/557,6837/6908	64691756	5,13001	2203	4300	6503	SO:0001583	missense	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.chr14:64691756G>A	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.20443G>A	14.37:g.64691756G>A	ENSP00000341781:p.Glu6815Lys					SYNE2_uc001xgl.2_Missense_Mutation_p.E6837K|SYNE2_uc010apy.2_Missense_Mutation_p.E3200K|SYNE2_uc001xgn.2_Missense_Mutation_p.E1776K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E785K|SYNE2_uc001xgq.2_Missense_Mutation_p.E1194K|SYNE2_uc001xgr.2_Missense_Mutation_p.E598K|SYNE2_uc010tsi.1_Missense_Mutation_p.E472K|SYNE2_uc001xgs.2_Missense_Mutation_p.E486K|SYNE2_uc001xgt.2_Missense_Mutation_p.E359K	p.E6815K	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)	114	20673	+			6815			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.20443G>A	CCDS41963.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.50|12.50	1.956551|1.956551	0.34565|0.34565	0.001135|0.001135	0.0|0.0	ENSG00000054654|ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438|ENST00000554584;ENST00000261678	T;T;T;T;T;T;T;T;T|T	0.50813|0.56275	0.73;4.03;0.73;4.08;4.03;3.73;3.25;2.94;2.74|0.47	6.17|6.17	4.01|4.01	0.46588|0.46588	.|.	0.637907|.	0.14363|.	N|.	0.324323|.	T|T	0.22742|0.22742	0.0549|0.0549	N|N	0.03608|0.03608	-0.345|-0.345	0.34133|0.34133	D|D	0.665472|0.665472	B;B;P;B;B;B;B|.	0.35226|.	0.033;0.033;0.491;0.113;0.037;0.034;0.011|.	B;B;B;B;B;B;B|.	0.26094|.	0.015;0.062;0.066;0.048;0.015;0.039;0.012|.	T|T	0.28618|0.28618	-1.0038|-1.0038	9|7	.|0.06494	.|T	.|0.89	.|.	7.2493|7.2493	0.26140|0.26140	0.1195:0.1733:0.7072:0.0|0.1195:0.1733:0.7072:0.0	.|.	472;3200;359;486;1217;6815;6837|.	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2|.	.;.;.;.;.;SYNE2_HUMAN;.|.	K|K	6837;3200;6815;3471;3200;693;598;486;359|6735;6741	ENSP00000350719:E6837K;ENSP00000349969:E3200K;ENSP00000341781:E6815K;ENSP00000450831:E3471K;ENSP00000378249:E3200K;ENSP00000451009:E693K;ENSP00000450605:E598K;ENSP00000391937:E486K;ENSP00000396794:E359K|ENSP00000452570:R6735K	.|ENSP00000261678:R6741K	E|R	+|+	1|2	0|0	SYNE2|SYNE2	63761509|63761509	0.056000|0.056000	0.20664|0.20664	0.719000|0.719000	0.30619|0.30619	0.615000|0.615000	0.37417|0.37417	0.886000|0.886000	0.28241|0.28241	1.587000|1.587000	0.49959|0.49959	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.488	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	22	0	0	0	0	7	22				
GTF2A1	2957	broad.mit.edu	37	14	81659171	81659171	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:81659171G>A	ENST00000553612.1	-	7	1028	c.625C>T	c.(625-627)Ctt>Ttt	p.L209F	GTF2A1_ENST00000434192.2_Missense_Mutation_p.L170F	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	209					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		CCTCCAGGAAGAGGAGCCAGC	0.413																																						uc001xvf.1		NA																	0				breast(1)	1						c.(625-627)CTT>TTT		TFIIA alpha, p55 isoform 1							99.0	100.0	100.0					14																	81659171		2203	4300	6503	SO:0001583	missense	2957				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr14:81659171G>A	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.625C>T	14.37:g.81659171G>A	ENSP00000452454:p.Leu209Phe					GTF2A1_uc010atb.1_Missense_Mutation_p.L159F|GTF2A1_uc001xvg.1_Missense_Mutation_p.L170F	p.L209F	NM_015859	NP_056943	P52655	TF2AA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0287)	7	1057	-			209					Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	37	c.625C>T	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382489	0.42207	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.18810	2.19;2.19	5.2	4.18	0.49190	.	0.172440	0.50627	D	0.000105	T	0.18551	0.0445	L	0.46157	1.445	0.45076	D	0.998096	B	0.30406	0.278	B	0.33339	0.162	T	0.02326	-1.1176	10	0.10111	T	0.7	-17.1174	13.0753	0.59083	0.0:0.0:0.7024:0.2976	.	209	P52655	TF2AA_HUMAN	F	209;170;170	ENSP00000452454:L209F;ENSP00000409492:L170F	ENSP00000298173:L209F	L	-	1	0	GTF2A1	80728924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.404000	0.44539	2.577000	0.86979	0.655000	0.94253	CTT		0.413	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		7	137	0	0	0	0	7	137				
KCNK13	56659	broad.mit.edu	37	14	90650623	90650623	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:90650623G>A	ENST00000282146.4	+	2	944	c.503G>A	c.(502-504)cGa>cAa	p.R168Q		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	168					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTCCGGAGACGAGGGGCCCTG	0.607																																						uc001xye.1		NA																	0				skin(1)	1						c.(502-504)CGA>CAA		potassium channel, subfamily K, member 13							70.0	73.0	72.0					14																	90650623		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650623G>A	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.503G>A	14.37:g.90650623G>A	ENSP00000282146:p.Arg168Gln						p.R168Q	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	945	+		all_cancers(154;0.186)	168			Cytoplasmic (Potential).		B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.503G>A	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	9.013	0.982906	0.18889	.	.	ENSG00000152315	ENST00000282146	T	0.13420	2.59	5.09	0.564	0.17302	.	1.017930	0.07926	N	0.976702	T	0.13286	0.0322	L	0.50333	1.59	0.09310	N	1	B	0.23377	0.084	B	0.15052	0.012	T	0.31724	-0.9933	10	0.42905	T	0.14	.	8.0086	0.30340	0.5796:0.0:0.4204:0.0	.	168	Q9HB14	KCNKD_HUMAN	Q	168	ENSP00000282146:R168Q	ENSP00000282146:R168Q	R	+	2	0	KCNK13	89720376	0.043000	0.20138	0.001000	0.08648	0.091000	0.18340	1.372000	0.34261	0.184000	0.20083	-0.136000	0.14681	CGA		0.607	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		22	77	0	0	0	0	22	77				
CHGA	1113	broad.mit.edu	37	14	93397717	93397717	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr14:93397717G>A	ENST00000216492.5	+	6	758	c.478G>A	c.(478-480)Gag>Aag	p.E160K	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	160					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GCCCATGCAGGAGTCCAAGGC	0.617																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	uc001ybc.3		NA																	0				skin(2)	2						c.(478-480)GAG>AAG		chromogranin A precursor							25.0	30.0	29.0					14																	93397717		2203	4300	6503	SO:0001583	missense	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397717G>A		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.478G>A	14.37:g.93397717G>A	ENSP00000216492:p.Glu160Lys					CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_Intron	p.E160K	NM_001275	NP_001266	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	738	+		all_cancers(154;0.0843)	160					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	37	c.478G>A	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481837	0.84747	.	.	ENSG00000100604	ENST00000216492	T	0.01629	4.72	4.94	4.02	0.46733	.	0.905253	0.09748	N	0.761032	T	0.03434	0.0099	L	0.48642	1.525	0.27240	N	0.959164	P	0.42078	0.77	B	0.42827	0.399	T	0.44314	-0.9336	10	0.49607	T	0.09	-2.3236	12.3601	0.55199	0.0:0.1704:0.8296:0.0	.	160	P10645	CMGA_HUMAN	K	160	ENSP00000216492:E160K	ENSP00000216492:E160K	E	+	1	0	CHGA	92467470	0.014000	0.17966	0.002000	0.10522	0.679000	0.39708	2.014000	0.40951	1.162000	0.42619	0.555000	0.69702	GAG		0.617	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		4	20	0	0	0	0	4	20				
ACSBG1	23205	broad.mit.edu	37	15	78465941	78465941	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr15:78465941C>G	ENST00000258873.4	-	13	2288	c.2083G>C	c.(2083-2085)Gag>Cag	p.E695Q	ACSBG1_ENST00000541759.1_Missense_Mutation_p.E453Q|ACSBG1_ENST00000560817.1_Missense_Mutation_p.E453Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	695					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTACCCAACTCTCCACCCGAA	0.587																																						uc002bdh.2		NA																	0				ovary(1)	1						c.(2083-2085)GAG>CAG		lipidosin							65.0	61.0	62.0					15																	78465941		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78465941C>G	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.2083G>C	15.37:g.78465941C>G	ENSP00000258873:p.Glu695Gln					ACSBG1_uc010umw.1_Missense_Mutation_p.E691Q|ACSBG1_uc010umx.1_Missense_Mutation_p.E453Q	p.E695Q	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			13	2139	-			695					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.2083G>C	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623990	0.66901	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.10860	2.83;2.83	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.986	T	0.50608	-0.8808	10	0.87932	D	0	-42.6158	18.0062	0.89210	0.0:1.0:0.0:0.0	.	691;695	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	Q	695;453	ENSP00000258873:E695Q;ENSP00000439955:E453Q	ENSP00000258873:E695Q	E	-	1	0	ACSBG1	76252996	1.000000	0.71417	0.995000	0.50966	0.054000	0.15201	7.588000	0.82629	2.728000	0.93425	0.591000	0.81541	GAG		0.587	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		8	43	0	0	0	0	8	43				
ZNF592	9640	broad.mit.edu	37	15	85328024	85328024	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr15:85328024C>T	ENST00000560079.2	+	4	2406	c.2118C>T	c.(2116-2118)ctC>ctT	p.L706L	ZNF592_ENST00000299927.3_Silent_p.L706L	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	706					cell death (GO:0008219)|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(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTGTGAGGCTCATCCGGTACT	0.582																																						uc002bld.2		NA																	0				ovary(4)|skin(2)	6						c.(2116-2118)CTC>CTT		zinc finger protein 592							81.0	76.0	78.0					15																	85328024		2203	4299	6502	SO:0001819	synonymous_variant	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85328024C>T	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2118C>T	15.37:g.85328024C>T						ZNF592_uc010upb.1_RNA	p.L706L	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	2454	+			706					Q2M1T2|Q504Y9	Silent	SNP	ENST00000560079.2	37	c.2118C>T	CCDS32317.1																																																																																				0.582	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		7	70	0	0	0	0	7	70				
C16orf91	283951	broad.mit.edu	37	16	1470388	1470388	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:1470388G>A	ENST00000442039.2	-	2	334	c.258C>T	c.(256-258)ctC>ctT	p.L86L	C16orf91_ENST00000563974.1_Silent_p.L19L|C16orf91_ENST00000310355.1_Silent_p.L243L	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	86						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TCAGCGCCACGAGGAAGCAGC	0.632																																						uc002clr.2		NA																	0					0						c.(256-258)CTC>CTT		hypothetical protein LOC283951							104.0	100.0	101.0					16																	1470388		2199	4300	6499	SO:0001819	synonymous_variant	283951					integral to membrane		g.chr16:1470388G>A	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.258C>T	16.37:g.1470388G>A						C16orf91_uc010uvd.1_Silent_p.L243L	p.L86L	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN			2	279	-			86			Helical; (Potential).		Q96RZ0	Silent	SNP	ENST00000442039.2	37	c.258C>T																																																																																					0.632	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432502.1	NM_001010878		15	74	0	0	0	0	15	74				
COQ7	10229	broad.mit.edu	37	16	19085308	19085308	+	Silent	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:19085308C>G	ENST00000321998.5	+	3	384	c.318C>G	c.(316-318)gtC>gtG	p.V106V	COQ7_ENST00000544894.2_Silent_p.V68V|COQ7_ENST00000568985.1_Silent_p.V106V|COQ7_ENST00000569127.1_Silent_p.V83V	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	106	2 X approximate tandem repeats.				age-dependent response to oxidative stress (GO:0001306)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|in utero embryonic development (GO:0001701)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrion morphogenesis (GO:0070584)|neural tube formation (GO:0001841)|neurogenesis (GO:0022008)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						CGTTCAGGGTCCGGCCAACAG	0.438																																						uc002dfr.2		NA																	0				skin(1)	1						c.(316-318)GTC>GTG		COQ7 protein							126.0	104.0	112.0					16																	19085308		2197	4300	6497	SO:0001819	synonymous_variant	10229				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding	g.chr16:19085308C>G	U81276	CCDS10574.1, CCDS53993.1	16p12.3	2008-05-14	2001-11-28		ENSG00000167186	ENSG00000167186			2244	protein-coding gene	gene with protein product		601683	"""coenzyme Q, 7 (rat, yeast) homolog"""			9020081, 10373325	Standard	NM_016138		Approved	CLK-1, CAT5	uc002dfr.3	Q99807	OTTHUMG00000131455	ENST00000321998.5:c.318C>G	16.37:g.19085308C>G						COQ7_uc002dfs.2_Silent_p.V92V	p.V106V	NM_016138	NP_057222	Q99807	COQ7_HUMAN			3	378	+			106			1.|2 X approximate tandem repeats.		B2RDA9|Q9BTT7|Q9H0T5|Q9UEW5|Q9UNR5	Silent	SNP	ENST00000321998.5	37	c.318C>G	CCDS10574.1																																																																																				0.438	COQ7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254275.3	NM_016138		5	23	0	0	0	0	5	23				
TMC5	79838	broad.mit.edu	37	16	19505660	19505660	+	Missense_Mutation	SNP	C	C	T	rs369268664		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:19505660C>T	ENST00000396229.2	+	20	3652	c.2903C>T	c.(2902-2904)tCa>tTa	p.S968L	TMC5_ENST00000564959.1_Missense_Mutation_p.S651L|TMC5_ENST00000541464.1_Missense_Mutation_p.S916L|TMC5_ENST00000381414.4_Missense_Mutation_p.S910L|TMC5_ENST00000219821.5_Missense_Mutation_p.S722L|TMC5_ENST00000542583.2_Missense_Mutation_p.S968L|TMC5_ENST00000561503.1_Missense_Mutation_p.S609L	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	968					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AACCCCAGCTCACTTGTTCTG	0.488																																						uc002dgc.3		NA																	0				skin(1)	1						c.(2902-2904)TCA>TTA		transmembrane channel-like 5 isoform a		C	LEU/SER,LEU/SER,LEU/SER	0,4394		0,0,2197	105.0	111.0	109.0		2903,2729,2165	3.5	0.1	16		109	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TMC5	NM_001105248.1,NM_001105249.1,NM_024780.4	145,145,145	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	968/1007,910/949,722/761	19505660	1,12993	2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19505660C>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2903C>T	16.37:g.19505660C>T	ENSP00000379531:p.Ser968Leu					TMC5_uc010vaq.1_Missense_Mutation_p.S916L|TMC5_uc002dgb.3_Missense_Mutation_p.S910L|TMC5_uc010var.1_Missense_Mutation_p.S968L|TMC5_uc002dge.3_Missense_Mutation_p.S722L|TMC5_uc002dgf.3_Missense_Mutation_p.S651L|TMC5_uc002dgg.3_Missense_Mutation_p.S609L	p.S968L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			20	3652	+			968			Extracellular (Potential).		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.2903C>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743537	0.30865	0.0	1.16E-4	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.69806	-0.18;-0.11;-0.27;-0.27;-0.43	5.57	3.49	0.39957	.	3.891660	0.00465	N	0.000108	T	0.56934	0.2019	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.12630	0.004;0.004;0.006;0.003;0.006	B;B;B;B;B	0.11329	0.004;0.002;0.006;0.002;0.006	T	0.38178	-0.9673	10	0.35671	T	0.21	0.1701	6.0654	0.19860	0.0:0.6707:0.1532:0.1761	.	916;651;722;968;910	F5GYU8;E7EU57;Q6UXY8-3;Q6UXY8;Q6UXY8-2	.;.;.;TMC5_HUMAN;.	L	916;910;968;968;722;651	ENSP00000441227:S916L;ENSP00000370822:S910L;ENSP00000379531:S968L;ENSP00000446274:S968L;ENSP00000219821:S722L	ENSP00000219821:S722L	S	+	2	0	TMC5	19413161	0.000000	0.05858	0.056000	0.19401	0.002000	0.02628	0.164000	0.16542	0.724000	0.32296	-0.176000	0.13171	TCA		0.488	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		23	116	0	0	0	0	23	116				
ATXN2L	11273	broad.mit.edu	37	16	28843600	28843600	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:28843600C>T	ENST00000336783.4	+	11	1563	c.1396C>T	c.(1396-1398)Ccc>Tcc	p.P466S	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P466S|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P466S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P466S|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P466S|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P472S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P466S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	466					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCAGAGCCTCCCATCGGCTC	0.587																																						uc002drc.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1396-1398)CCC>TCC		ataxin 2 related protein isoform A							62.0	63.0	63.0					16																	28843600		2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28843600C>T		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1396C>T	16.37:g.28843600C>T	ENSP00000338718:p.Pro466Ser					uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.P466S|ATXN2L_uc002drb.2_Missense_Mutation_p.P466S|ATXN2L_uc002dqy.2_Missense_Mutation_p.P466S|ATXN2L_uc002dra.2_Missense_Mutation_p.P466S|ATXN2L_uc002dqz.2_Missense_Mutation_p.P466S|ATXN2L_uc010vdb.1_Missense_Mutation_p.P472S|ATXN2L_uc002dre.2_Missense_Mutation_p.P466S|ATXN2L_uc002drf.2_Intron|ATXN2L_uc002drg.2_5'Flank	p.P466S	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN			11	1564	+			466					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.1396C>T	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.388625	0.82902	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.49720	0.77;0.77;0.8;0.8;0.77	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000007	T	0.66386	0.2784	M	0.62723	1.935	0.53005	D	0.99996	D;D;D;D;D;D;D;D	0.89917	0.996;1.0;0.993;1.0;0.996;0.996;0.993;1.0	D;D;D;D;D;D;D;D	0.87578	0.986;0.998;0.968;0.992;0.986;0.986;0.968;0.996	T	0.59700	-0.7405	10	0.25751	T	0.34	-12.8054	18.5257	0.90971	0.0:1.0:0.0:0.0	.	466;466;466;466;466;466;466;466	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	S	466	ENSP00000341459:P466S;ENSP00000378917:P466S;ENSP00000338718:P466S;ENSP00000372133:P466S;ENSP00000315650:P466S	ENSP00000315650:P466S	P	+	1	0	ATXN2L	28751101	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	2.842000	0.48230	2.677000	0.91161	0.491000	0.48974	CCC		0.587	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		10	53	0	0	0	0	10	53				
SETD1A	9739	broad.mit.edu	37	16	30990939	30990939	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:30990939G>C	ENST00000262519.8	+	14	4518	c.3832G>C	c.(3832-3834)Gag>Cag	p.E1278Q		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1278					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TGAAGACTCAGAGGCCACAGA	0.701																																						uc002ead.1		NA																	0				ovary(2)|skin(1)	3						c.(3832-3834)GAG>CAG		SET domain containing 1A							16.0	21.0	20.0					16																	30990939		2189	4281	6470	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30990939G>C	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3832G>C	16.37:g.30990939G>C	ENSP00000262519:p.Glu1278Gln						p.E1278Q	NM_014712	NP_055527	O15047	SET1A_HUMAN			14	4518	+			1278					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.3832G>C	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	9.163	1.019318	0.19355	.	.	ENSG00000099381	ENST00000262519	D	0.95171	-3.63	4.96	3.93	0.45458	.	0.250912	0.36444	N	0.002595	D	0.87144	0.6104	N	0.19112	0.55	0.48452	D	0.999656	P	0.43094	0.799	B	0.36845	0.234	D	0.86055	0.1528	10	0.27082	T	0.32	.	11.9943	0.53191	0.0:0.1752:0.8248:0.0	.	1278	O15047	SET1A_HUMAN	Q	1278	ENSP00000262519:E1278Q	ENSP00000262519:E1278Q	E	+	1	0	SETD1A	30898440	1.000000	0.71417	0.932000	0.37286	0.086000	0.17979	3.295000	0.51794	2.292000	0.77174	0.563000	0.77884	GAG		0.701	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		6	21	0	0	0	0	6	21				
ZNF423	23090	broad.mit.edu	37	16	49672148	49672148	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:49672148G>A	ENST00000561648.1	-	4	968	c.915C>T	c.(913-915)gtC>gtT	p.V305V	ZNF423_ENST00000567169.1_Silent_p.V188V|ZNF423_ENST00000562871.1_Silent_p.V245V|ZNF423_ENST00000563137.2_Silent_p.V245V|ZNF423_ENST00000535559.1_Silent_p.V188V|ZNF423_ENST00000262383.2_Silent_p.V305V|ZNF423_ENST00000562520.1_Silent_p.V245V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	305					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGTTCTCGTCGACGAAGACCT	0.607																																						uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(913-915)GTC>GTT		zinc finger protein 423							119.0	82.0	95.0					16																	49672148		2198	4300	6498	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672148G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.915C>T	16.37:g.49672148G>A						ZNF423_uc010vgn.1_Silent_p.V188V	p.V305V	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	1213	-		all_cancers(37;0.0155)	305			C2H2-type 7.		O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.915C>T	CCDS32445.1																																																																																				0.607	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		10	31	0	0	0	0	10	31				
GSE1	23199	broad.mit.edu	37	16	85697133	85697133	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr16:85697133G>A	ENST00000253458.7	+	11	2733	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	GSE1_ENST00000393243.1_Missense_Mutation_p.E780K|GSE1_ENST00000405402.2_Missense_Mutation_p.E749K	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	853																	CAGCCCTGATGAGATGAACAA	0.562																																						uc002fix.2		NA																	0				large_intestine(3)|ovary(1)|skin(1)	5						c.(2557-2559)GAG>AAG		genetic suppressor element 1 isoform 1							86.0	83.0	84.0					16																	85697133		2198	4300	6498	SO:0001583	missense	23199						protein binding	g.chr16:85697133G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2557G>A	16.37:g.85697133G>A	ENSP00000253458:p.Glu853Lys					KIAA0182_uc002fiw.2_Missense_Mutation_p.E749K|KIAA0182_uc002fiy.2_Missense_Mutation_p.E780K|KIAA0182_uc002fiz.2_Missense_Mutation_p.E33K|KIAA0182_uc010cho.2_Missense_Mutation_p.E33K	p.E853K	NM_014615	NP_055430	Q14687	GSE1_HUMAN			11	2631	+			853					D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.2557G>A	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.521722|5.521722	0.96416|0.96416	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243|ENST00000412692;ENST00000438180	T;T;T|.	0.32515|.	1.45;1.46;1.45|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.294110|.	0.38005|.	N|.	0.001851|.	T|T	0.60612|0.60612	0.2282|0.2282	L|L	0.36672|0.36672	1.1|1.1	0.45025|0.45025	D|D	0.99804|0.99804	P;D;D;D|.	0.67145|.	0.939;0.978;0.978;0.996|.	P;P;P;D|.	0.64506|.	0.735;0.796;0.796;0.926|.	T|T	0.55848|0.55848	-0.8076|-0.8076	10|5	0.56958|.	D|.	0.05|.	-9.595|-9.595	18.3654|18.3654	0.90389|0.90389	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	616;749;780;853|.	Q59GZ0;Q14687-2;Q14687-3;Q14687|.	.;.;.;GSE1_HUMAN|.	K|I	749;853;780|659;54	ENSP00000384839:E749K;ENSP00000253458:E853K;ENSP00000376934:E780K|.	ENSP00000253458:E853K|.	E|M	+|+	1|3	0|0	KIAA0182|KIAA0182	84254634|84254634	1.000000|1.000000	0.71417|0.71417	0.803000|0.803000	0.32268|0.32268	0.840000|0.840000	0.47671|0.47671	5.745000|5.745000	0.68672|0.68672	2.438000|2.438000	0.82558|0.82558	0.561000|0.561000	0.74099|0.74099	GAG|ATG		0.562	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		21	55	0	0	0	0	21	55				
PER1	5187	broad.mit.edu	37	17	8045157	8045157	+	Missense_Mutation	SNP	C	C	T	rs568837329	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:8045157C>T	ENST00000317276.4	-	22	3803	c.3566G>A	c.(3565-3567)cGg>cAg	p.R1189Q	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.R1166Q	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1189	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGGCCCTTCCGGACCCAGGA	0.577			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					C|||	2	0.000399361	0.0	0.0	5008	,	,		14918	0.002		0.0	False		,,,				2504	0.0					uc002gkd.2		NA		Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		0				lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(3565-3567)CGG>CAG	Other_conserved_DNA_damage_response_genes	period 1							69.0	80.0	77.0					17																	8045157		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8045157C>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3566G>A	17.37:g.8045157C>T	ENSP00000314420:p.Arg1189Gln					PER1_uc010cns.2_Missense_Mutation_p.R63Q|PER1_uc010vuq.1_RNA	p.R1189Q	NM_002616	NP_002607	O15534	PER1_HUMAN			22	3804	-			1189			CRY binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3566G>A	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261325	0.59431	.	.	ENSG00000179094	ENST00000317276	T	0.12672	2.66	5.67	5.67	0.87782	Period circadian-like, C-terminal (1);	0.062472	0.64402	D	0.000007	T	0.16599	0.0399	N	0.21448	0.665	0.80722	D	1	D;D	0.76494	0.999;0.98	P;P	0.60949	0.881;0.598	T	0.07868	-1.0750	10	0.10636	T	0.68	-12.3424	10.6584	0.45688	0.0:0.9136:0.0:0.0863	.	1180;1189	A2I2P6;O15534	.;PER1_HUMAN	Q	1189	ENSP00000314420:R1189Q	ENSP00000314420:R1189Q	R	-	2	0	PER1	7985882	0.939000	0.31865	1.000000	0.80357	0.987000	0.75469	1.457000	0.35212	2.697000	0.92050	0.655000	0.94253	CGG		0.577	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			20	116	0	0	0	0	20	116				
DNAH9	1770	broad.mit.edu	37	17	11520897	11520897	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:11520897G>A	ENST00000262442.4	+	5	1142	c.1074G>A	c.(1072-1074)ctG>ctA	p.L358L	DNAH9_ENST00000454412.2_Silent_p.L358L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	358	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)		CGGGAAGGCTGACTGTGCTGC	0.612																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(1072-1074)CTG>CTA		dynein, axonemal, heavy chain 9 isoform 2							64.0	64.0	64.0					17																	11520897		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.chr17:11520897G>A	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.1074G>A	17.37:g.11520897G>A							p.L358L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	5	1142	+		Breast(5;0.0122)|all_epithelial(5;0.131)	358			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.1074G>A	CCDS11160.1																																																																																				0.612	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		5	79	0	0	0	0	5	79				
MYO15A	51168	broad.mit.edu	37	17	18025472	18025472	+	Missense_Mutation	SNP	C	C	T	rs375451997		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:18025472C>T	ENST00000205890.5	+	2	3696	c.3358C>T	c.(3358-3360)Cgt>Tgt	p.R1120C		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1120					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGTCATGCCTCGTGTGCAGAA	0.652																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(3358-3360)CGT>TGT		myosin XV							46.0	52.0	50.0					17																	18025472		2021	4183	6204	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18025472C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3358C>T	17.37:g.18025472C>T	ENSP00000205890:p.Arg1120Cys						p.R1120C	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			2	3696	+	all_neural(463;0.228)		1120			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.3358C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	15.39	2.820901	0.50633	.	.	ENSG00000091536	ENST00000205890	D	0.89196	-2.48	5.08	4.11	0.48088	.	.	.	.	.	T	0.77485	0.4137	N	0.19112	0.55	0.34625	D	0.718986	P	0.51537	0.946	B	0.33521	0.165	T	0.82804	-0.0276	9	0.72032	D	0.01	.	11.081	0.48059	0.0:0.9085:0.0:0.0915	.	1120	Q9UKN7	MYO15_HUMAN	C	1120	ENSP00000205890:R1120C	ENSP00000205890:R1120C	R	+	1	0	MYO15A	17966197	0.101000	0.21875	0.061000	0.19648	0.885000	0.51271	1.974000	0.40559	1.128000	0.42052	0.561000	0.74099	CGT		0.652	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		12	44	0	0	0	0	12	44				
CCDC144NL	339184	broad.mit.edu	37	17	20799179	20799179	+	Missense_Mutation	SNP	C	C	G	rs201978220		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:20799179C>G	ENST00000327925.5	-	1	274	c.155G>C	c.(154-156)aGc>aCc	p.S52T	RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	52										large_intestine(3)|lung(3)|skin(1)	7						CTTCCACCAGCTGTAGGAGAA	0.622																																						uc002gyf.2		NA																	0					0						c.(154-156)AGC>ACC		coiled-coil domain containing 144 family,		C	THR/SER	0,4406		0,0,2203	77.0	79.0	78.0		155		0.0	17		78	4,8596	3.7+/-12.6	0,4,4296	no	missense	CCDC144NL	NM_001004306.1	58	0,4,6499	GG,GC,CC		0.0465,0.0,0.0308	possibly-damaging	52/222	20799179	4,13002	2203	4300	6503	SO:0001583	missense	339184							g.chr17:20799179C>G		CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.155G>C	17.37:g.20799179C>G	ENSP00000328054:p.Ser52Thr					uc002gyg.1_Intron|uc002gyh.1_Intron	p.S52T	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN			1	275	-			52						Missense_Mutation	SNP	ENST00000327925.5	37	c.155G>C	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	c	5.941	0.357579	0.11239	0.0	4.65E-4	ENSG00000205212	ENST00000327925	T	0.22945	1.93	.	.	.	.	.	.	.	.	T	0.11580	0.0282	N	0.14661	0.345	0.09310	N	1	P	0.45594	0.862	B	0.34931	0.192	T	0.14420	-1.0473	7	0.62326	D	0.03	.	.	.	.	.	52	Q6NUI1	C144L_HUMAN	T	52	ENSP00000328054:S52T	ENSP00000328054:S52T	S	-	2	0	CCDC144NL	20739771	0.002000	0.14202	0.003000	0.11579	0.000000	0.00434	0.064000	0.14437	0.442000	0.26555	0.000000	0.15137	AGC		0.622	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306		4	72	0	0	0	0	4	72				
SEZ6	124925	broad.mit.edu	37	17	27286455	27286455	+	Missense_Mutation	SNP	C	C	T	rs370021808		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:27286455C>T	ENST00000317338.12	-	9	2235	c.1807G>A	c.(1807-1809)Gtg>Atg	p.V603M	SEZ6_ENST00000442608.3_Missense_Mutation_p.V603M|SEZ6_ENST00000360295.9_Missense_Mutation_p.V603M|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	603	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GAGAGTACCACGCCAGCCGAG	0.587																																						uc002hdp.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1807-1809)GTG>ATG		seizure related 6 homolog isoform 1		C	MET/VAL,MET/VAL	1,4185		0,1,2092	60.0	68.0	65.0		1807,1807	5.2	1.0	17		65	0,8460		0,0,4230	no	missense,missense	SEZ6	NM_001098635.1,NM_178860.4	21,21	0,1,6322	TT,TC,CC		0.0,0.0239,0.0079	probably-damaging,probably-damaging	603/994,603/995	27286455	1,12645	2093	4230	6323	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27286455C>T	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1807G>A	17.37:g.27286455C>T	ENSP00000312942:p.Val603Met					SEZ6_uc010crx.1_5'Flank|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.V603M|SEZ6_uc002hdq.1_Missense_Mutation_p.V478M	p.V603M	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		9	2001	-	Lung NSC(42;0.0137)		603			Extracellular (Potential).|CUB 2.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.1807G>A	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789866	0.50102	2.39E-4	0.0	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T	0.36699	1.24;1.24	5.25	5.25	0.73442	CUB (5);	0.152140	0.41605	D	0.000855	T	0.66025	0.2748	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.87578	0.998;0.79	T	0.71679	-0.4520	10	0.66056	D	0.02	.	16.7249	0.85419	0.0:1.0:0.0:0.0	.	603;603	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	M	603;603;478;603	ENSP00000403784:V603M;ENSP00000353440:V603M	ENSP00000312942:V478M	V	-	1	0	SEZ6	24310581	0.999000	0.42202	0.967000	0.41034	0.277000	0.26821	4.006000	0.57083	2.611000	0.88343	0.655000	0.94253	GTG		0.587	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			13	42	0	0	0	0	13	42				
STAT5A	6776	broad.mit.edu	37	17	40458324	40458324	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:40458324G>A	ENST00000345506.4	+	14	2181	c.1539G>A	c.(1537-1539)atG>atA	p.M513I	STAT5A_ENST00000587646.1_Start_Codon_SNP_p.M1I|STAT5A_ENST00000590949.1_Missense_Mutation_p.M513I|STAT5A_ENST00000588868.1_Missense_Mutation_p.M482I|STAT5A_ENST00000452307.2_Missense_Mutation_p.M513I|STAT5A_ENST00000546010.2_Missense_Mutation_p.M483I	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	513					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CGCTCAACATGAAATTCAAGG	0.572																																						uc002hzj.1		NA																	0				lung(1)	1						c.(1537-1539)ATG>ATA		signal transducer and activator of transcription							90.0	80.0	83.0					17																	40458324		2203	4300	6503	SO:0001583	missense	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40458324G>A	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1539G>A	17.37:g.40458324G>A	ENSP00000341208:p.Met513Ile					STAT5A_uc010cya.1_Missense_Mutation_p.M513I|STAT5A_uc010cyb.1_Missense_Mutation_p.M482I|STAT5A_uc010cyc.1_Missense_Mutation_p.M483I|STAT5A_uc010cyd.1_Missense_Mutation_p.M1I|STAT5A_uc010cye.1_Missense_Mutation_p.M1I	p.M513I	NM_003152	NP_003143	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	14	2181	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	513					Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	c.1539G>A	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948713	0.73787	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	D;D;D	0.86432	-2.12;-2.12;-2.12	4.65	4.65	0.58169	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	L	0.35341	1.055	0.80722	D	1	B;B;B;B;B	0.31383	0.216;0.321;0.321;0.034;0.216	B;B;B;B;B	0.40782	0.242;0.34;0.34;0.063;0.242	T	0.83015	-0.0170	10	0.33141	T	0.24	-58.9189	17.8824	0.88844	0.0:0.0:1.0:0.0	.	513;513;483;484;513	A8K6I5;Q8WWS9;Q1KLZ6;Q59GY7;P42229	.;.;.;.;STA5A_HUMAN	I	513;483;484;513	ENSP00000341208:M513I;ENSP00000443107:M483I;ENSP00000400320:M513I	ENSP00000341208:M513I	M	+	3	0	STAT5A	37711850	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.793000	0.99091	2.293000	0.77203	0.561000	0.74099	ATG		0.572	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		12	65	0	0	0	0	12	65				
BRCA1	672	broad.mit.edu	37	17	41243826	41243826	+	Missense_Mutation	SNP	G	G	A	rs80357143|rs80359882		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:41243826G>A	ENST00000357654.3	-	10	3840	c.3722C>T	c.(3721-3723)tCt>tTt	p.S1241F	BRCA1_ENST00000471181.2_Missense_Mutation_p.S1241F|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.S1241F|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.S1241F|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.S945F|BRCA1_ENST00000493795.1_Missense_Mutation_p.S1194F	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1241					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATGCCTAGTAGACTGAGAAGG	0.388			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52	GRCh37	CM065008	BRCA1	M	rs80357143	c.(3721-3723)TCT>TTT	Homologous_recombination	breast cancer 1, early onset isoform 1							110.0	105.0	107.0					17																	41243826		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41243826G>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3722C>T	17.37:g.41243826G>A	ENSP00000350283:p.Ser1241Phe	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.S1170F|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.S1194F|BRCA1_uc002ict.2_Missense_Mutation_p.S1241F|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.S1241F|BRCA1_uc002ide.1_Missense_Mutation_p.S1072F|BRCA1_uc010cyy.1_Missense_Mutation_p.S1241F|BRCA1_uc010whs.1_Missense_Mutation_p.S1241F|BRCA1_uc010cyz.2_Missense_Mutation_p.S1194F|BRCA1_uc010cza.2_Missense_Mutation_p.S1215F|BRCA1_uc010wht.1_Missense_Mutation_p.S945F	p.S1241F	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	3954	-		Breast(137;0.000717)	1241					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.3722C>T	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	5.870	0.344600	0.11126	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.19	4.22	0.49857	.	0.832376	0.10580	N	0.658040	T	0.77485	0.4137	L	0.59436	1.845	0.09310	N	1	B;P;B;B;B;B	0.38250	0.314;0.624;0.314;0.314;0.303;0.441	B;B;B;B;B;B	0.43478	0.241;0.241;0.241;0.241;0.305;0.421	T	0.68318	-0.5440	10	0.62326	D	0.03	.	8.2084	0.31469	0.2393:0.0:0.7607:0.0	.	1241;1200;1241;1241;1241;1241	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	F	1241;1241;1241;1241;945;1241;1194	ENSP00000350283:S1241F;ENSP00000326002:S1241F;ENSP00000246907:S1241F;ENSP00000310938:S945F;ENSP00000418960:S1241F;ENSP00000418775:S1194F	ENSP00000310938:S945F	S	-	2	0	BRCA1	38497352	0.000000	0.05858	0.005000	0.12908	0.011000	0.07611	0.576000	0.23744	1.395000	0.46643	0.655000	0.94253	TCT		0.388	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		6	116	0	0	0	0	6	116				
BRCA1	672	broad.mit.edu	37	17	41245102	41245102	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:41245102G>A	ENST00000357654.3	-	10	2564	c.2446C>T	c.(2446-2448)Cat>Tat	p.H816Y	BRCA1_ENST00000471181.2_Missense_Mutation_p.H816Y|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.H816Y|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.H816Y|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.H520Y|BRCA1_ENST00000493795.1_Missense_Mutation_p.H769Y	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	816					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H816fs*3(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAACAACCATGAATTAGTCCC	0.398			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Deletion - Frameshift(1)		ovary(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(2446-2448)CAT>TAT	Homologous_recombination	breast cancer 1, early onset isoform 1							217.0	216.0	217.0					17																	41245102		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41245102G>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2446C>T	17.37:g.41245102G>A	ENSP00000350283:p.His816Tyr	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.H745Y|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.H769Y|BRCA1_uc002ict.2_Missense_Mutation_p.H816Y|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.H816Y|BRCA1_uc002ide.1_Missense_Mutation_p.H647Y|BRCA1_uc010cyy.1_Missense_Mutation_p.H816Y|BRCA1_uc010whs.1_Missense_Mutation_p.H816Y|BRCA1_uc010cyz.2_Missense_Mutation_p.H769Y|BRCA1_uc010cza.2_Missense_Mutation_p.H790Y|BRCA1_uc010wht.1_Missense_Mutation_p.H520Y	p.H816Y	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2678	-		Breast(137;0.000717)	816					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.2446C>T	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	9.561	1.118432	0.20877	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.26	1.98	0.26296	.	1.299820	0.05046	N	0.477225	D	0.83801	0.5333	M	0.74881	2.28	0.09310	N	1	P;P;B;B;B;B	0.50710	0.812;0.938;0.045;0.1;0.021;0.082	P;P;B;B;B;B	0.48952	0.472;0.596;0.139;0.14;0.196;0.086	T	0.67887	-0.5554	10	0.51188	T	0.08	.	7.6685	0.28445	0.0:0.3125:0.3972:0.2902	.	816;775;816;816;816;816	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	Y	816;816;816;816;520;816;769	ENSP00000350283:H816Y;ENSP00000326002:H816Y;ENSP00000246907:H816Y;ENSP00000310938:H520Y;ENSP00000418960:H816Y;ENSP00000418775:H769Y	ENSP00000310938:H520Y	H	-	1	0	BRCA1	38498628	0.001000	0.12720	0.001000	0.08648	0.354000	0.29330	0.826000	0.27407	0.769000	0.33313	0.484000	0.47621	CAT		0.398	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		14	248	0	0	0	0	14	248				
HID1	283987	broad.mit.edu	37	17	72955024	72955024	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:72955024C>A	ENST00000425042.2	-	9	1208	c.1131G>T	c.(1129-1131)aaG>aaT	p.K377N		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	377					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											AGTCGCAGAGCTTCCAGAAGA	0.602											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jmj.3		NA																	0					0						c.(1129-1131)AAG>AAT		hypothetical protein LOC283987							65.0	51.0	56.0					17																	72955024		2203	4300	6503	SO:0001583	missense	283987					integral to membrane|plasma membrane	protein binding	g.chr17:72955024C>A		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1131G>T	17.37:g.72955024C>A	ENSP00000413520:p.Lys377Asn		OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1141	C17orf28_uc010wrs.1_Missense_Mutation_p.K176N|C17orf28_uc002jmk.2_Missense_Mutation_p.K376N	p.K377N	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN			9	1280	-	all_lung(278;0.151)|Lung NSC(278;0.185)		377					Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.1131G>T	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509940	0.44660	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	4.97	2.95	0.34219	.	0.106372	0.64402	D	0.000008	T	0.75162	0.3812	M	0.86178	2.8	0.49798	D	0.999824	P;P	0.45428	0.858;0.836	P;P	0.57244	0.816;0.776	T	0.77205	-0.2673	9	0.87932	D	0	-12.7273	8.8745	0.35337	0.0:0.6968:0.0:0.3032	.	376;377	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	N	149;377;149	.	ENSP00000317795:K149N	K	-	3	2	C17orf28	70466619	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	0.263000	0.18478	1.068000	0.40764	0.449000	0.29647	AAG		0.602	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		3	14	1	0	6.4e-05	7.15e-05	3	14				
OGFOD3	79701	broad.mit.edu	37	17	80363226	80363226	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:80363226G>A	ENST00000313056.5	-	6	670	c.519C>T	c.(517-519)ttC>ttT	p.F173F	OGFOD3_ENST00000329197.5_Silent_p.F173F	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	173						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|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)										CCTCCTCTGAGAAGATGTTCT	0.517																																						uc002keu.1		NA																	0				ovary(1)	1						c.(517-519)TTC>TTT		hypothetical protein LOC79701 isoform 1							72.0	72.0	72.0					17																	80363226		2203	4300	6503	SO:0001819	synonymous_variant	79701					integral to membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:80363226G>A	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.519C>T	17.37:g.80363226G>A						C17orf101_uc002ket.1_Silent_p.F173F|C17orf101_uc010dip.1_RNA	p.F173F	NM_024648	NP_078924	Q6PK18	CQ101_HUMAN			6	620	-			173			Lumenal (Potential).		C9JDC8|Q8IZ37|Q9H6J2	Silent	SNP	ENST00000313056.5	37	c.519C>T	CCDS11811.1																																																																																				0.517	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1	NM_175902		12	31	0	0	0	0	12	31				
MTCL1	23255	broad.mit.edu	37	18	8784808	8784808	+	Silent	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr18:8784808G>C	ENST00000306329.11	+	5	2778	c.2778G>C	c.(2776-2778)ggG>ggC	p.G926G	SOGA2_ENST00000400050.3_Silent_p.G566G|SOGA2_ENST00000359865.3_Silent_p.G566G|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Silent_p.G566G																							CCCCCATCGGGAACCTGGGGA	0.632																																						uc002knr.2		NA																	0					0						c.(1696-1698)GGG>GGC		hypothetical protein LOC23255							50.0	52.0	51.0					18																	8784808		2203	4300	6503	SO:0001819	synonymous_variant	23255							g.chr18:8784808G>C																												ENST00000306329.11:c.2778G>C	18.37:g.8784808G>C						KIAA0802_uc002knq.2_Silent_p.G566G|KIAA0802_uc010dkw.1_Silent_p.G404G	p.G566G	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			6	1840	+			917						Silent	SNP	ENST00000306329.11	37	c.1698G>C																																																																																					0.632	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			11	58	0	0	0	0	11	58				
CFAP53	220136	broad.mit.edu	37	18	47765019	47765019	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr18:47765019C>T	ENST00000398545.4	-	7	1387	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTAAGACTTTCATTTATGTGT	0.328																																						uc002lee.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1270-1272)GAA>AAA		coiled-coil domain containing 11							193.0	191.0	191.0					18																	47765019		1835	4086	5921	SO:0001583	missense	220136							g.chr18:47765019C>T																												ENST00000398545.4:c.1270G>A	18.37:g.47765019C>T	ENSP00000381553:p.Glu424Lys						p.E424K	NM_145020	NP_659457	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	7	1361	-			424			Potential.			Missense_Mutation	SNP	ENST00000398545.4	37	c.1270G>A	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	C	16.10	3.025946	0.54683	.	.	ENSG00000172361	ENST00000398545	T	0.10763	2.84	6.02	3.94	0.45596	.	0.176912	0.47093	D	0.000243	T	0.08626	0.0214	L	0.38531	1.155	0.29788	N	0.833413	B	0.24186	0.099	B	0.23574	0.047	T	0.12268	-1.0554	10	0.23891	T	0.37	-8.0681	9.3358	0.38049	0.0:0.8147:0.0:0.1853	.	424	Q96M91	CCD11_HUMAN	K	424	ENSP00000381553:E424K	ENSP00000381553:E424K	E	-	1	0	CCDC11	46019017	0.922000	0.31269	0.937000	0.37676	0.950000	0.60333	1.066000	0.30604	1.570000	0.49709	0.655000	0.94253	GAA		0.328	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			9	33	0	0	0	0	9	33				
MIER2	54531	broad.mit.edu	37	19	327204	327204	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:327204G>T	ENST00000264819.4	-	5	432	c.422C>A	c.(421-423)tCa>tAa	p.S141*	MIER2_ENST00000592722.1_5'Flank	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GTCAGCAGATGATTGCGTCTC	0.468																																						uc002lok.1		NA																	0					0						c.(421-423)TCA>TAA		mesoderm induction early response 1, family							262.0	238.0	246.0					19																	327204		2203	4300	6503	SO:0001587	stop_gained	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:327204G>T	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.422C>A	19.37:g.327204G>T	ENSP00000264819:p.Ser141*						p.S141*	NM_017550	NP_060020	Q8N344	MIER2_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)	5	431	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	141					Q9ULM7	Nonsense_Mutation	SNP	ENST00000264819.4	37	c.422C>A	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.042037	0.75732	.	.	ENSG00000105556	ENST00000264819	.	.	.	5.27	5.27	0.74061	.	0.000000	0.46758	D	0.000273	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.2769	16.085	0.81038	0.0:0.0:1.0:0.0	.	.	.	.	X	141	.	ENSP00000264819:S141X	S	-	2	0	MIER2	278204	1.000000	0.71417	0.922000	0.36590	0.109000	0.19521	8.384000	0.90160	2.474000	0.83562	0.650000	0.86243	TCA		0.468	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		12	216	1	0	3.07e-06	3.47e-06	12	216				
MPND	84954	broad.mit.edu	37	19	4359198	4359198	+	Silent	SNP	C	C	T	rs141733787		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:4359198C>T	ENST00000262966.8	+	11	1342	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000599840.1_Silent_p.L455L|MPND_ENST00000359935.4_Silent_p.L405L	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	425							peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCTGACCTCGTGAGGCTCC	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17803	0.0		0.001	False		,,,				2504	0.0					uc002mae.2		NA																	0				breast(1)	1						c.(1273-1275)CTC>CTT		MPN domain containing isoform 1		C	,	0,3942		0,0,1971	58.0	65.0	62.0		1215,1275	-10.0	0.9	19	dbSNP_134	62	3,8281		0,3,4139	no	coding-synonymous,coding-synonymous	MPND	NM_001159846.1,NM_032868.4	,	0,3,6110	TT,TC,CC		0.0362,0.0,0.0245	,	405/452,425/472	4359198	3,12223	1971	4142	6113	SO:0001819	synonymous_variant	84954						peptidase activity	g.chr19:4359198C>T		CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.1275C>T	19.37:g.4359198C>T						MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Silent_p.L405L|MPND_uc002maf.2_Silent_p.L455L|MPND_uc002mah.2_Silent_p.L313L|MPND_uc002mai.2_Silent_p.L314L	p.L425L	NM_032868	NP_116257	Q8N594	MPND_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1342	+			425					Q96SJ0|Q9Y2P1|Q9Y2P2	Silent	SNP	ENST00000262966.8	37	c.1275C>T	CCDS42470.1																																																																																				0.622	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		10	55	0	0	0	0	10	55				
ZNF98	148198	broad.mit.edu	37	19	22575483	22575483	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:22575483T>C	ENST00000357774.5	-	4	675	c.554A>G	c.(553-555)aAa>aGa	p.K185R		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTCACATTCTTTACACTTGAA	0.303																																						uc002nqt.2		NA																	0				ovary(1)|skin(1)	2						c.(553-555)AAA>AGA		zinc finger protein 98							24.0	24.0	24.0					19																	22575483		2012	4196	6208	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22575483T>C		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.554A>G	19.37:g.22575483T>C	ENSP00000350418:p.Lys185Arg						p.K185R	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	676	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	185			C2H2-type 1.			Missense_Mutation	SNP	ENST00000357774.5	37	c.554A>G	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	10.22	1.290824	0.23564	.	.	ENSG00000197360	ENST00000357774	T	0.07688	3.17	1.28	-0.00959	0.14000	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11922	0.0290	L	0.37850	1.14	0.09310	N	1	P	0.49185	0.92	P	0.58130	0.833	T	0.20306	-1.0279	9	0.59425	D	0.04	.	2.8287	0.05492	0.0:0.1858:0.2593:0.5549	.	185	A6NK75	ZNF98_HUMAN	R	185	ENSP00000350418:K185R	ENSP00000350418:K185R	K	-	2	0	ZNF98	22367323	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-3.744000	0.00377	-0.230000	0.09840	0.254000	0.18369	AAA		0.303	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		2	8	0	0	0	0	2	8				
PVRL2	5819	broad.mit.edu	37	19	45375325	45375325	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:45375325G>A	ENST00000252483.5	+	3	694	c.694G>A	c.(694-696)Gat>Aat	p.D232N	PVRL2_ENST00000252485.4_Missense_Mutation_p.D232N	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	232	Ig-like C2-type 1.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GGGCCGAGCAGATGGTGTCAC	0.597																																						uc002ozw.1		NA																	0					0						c.(694-696)GAT>AAT		poliovirus receptor related 2 isoform delta							141.0	107.0	119.0					19																	45375325		2203	4300	6503	SO:0001583	missense	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45375325G>A	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.694G>A	19.37:g.45375325G>A	ENSP00000252483:p.Asp232Asn					PVRL2_uc002ozv.2_Missense_Mutation_p.D232N	p.D232N	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	3	1084	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	232			Ig-like C2-type 1.|Extracellular (Potential).		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	c.694G>A	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634022	0.29068	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.75154	2.93;-0.91	4.25	2.06	0.26882	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.610555	0.14970	N	0.287844	T	0.70202	0.3197	L	0.39898	1.24	0.09310	N	1	B;B	0.30236	0.225;0.274	P;B	0.45119	0.47;0.219	T	0.60156	-0.7318	10	0.27082	T	0.32	.	6.6204	0.22800	0.2264:0.0:0.7736:0.0	.	232;232	Q92692;Q92692-2	PVRL2_HUMAN;.	N	232	ENSP00000252483:D232N;ENSP00000252485:D232N	ENSP00000252483:D232N	D	+	1	0	PVRL2	50067165	0.014000	0.17966	0.005000	0.12908	0.935000	0.57460	0.256000	0.18351	1.000000	0.39049	0.561000	0.74099	GAT		0.597	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		5	63	0	0	0	0	5	63				
PVRL2	5819	broad.mit.edu	37	19	45375367	45375367	+	Missense_Mutation	SNP	G	G	A	rs138153191		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:45375367G>A	ENST00000252483.5	+	3	736	c.736G>A	c.(736-738)Gag>Aag	p.E246K	PVRL2_ENST00000252485.4_Missense_Mutation_p.E246K	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	246	Ig-like C2-type 1.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGAGAGCTTCGAGGAACCAGC	0.592																																						uc002ozw.1		NA																	0					0						c.(736-738)GAG>AAG		poliovirus receptor related 2 isoform delta		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	183.0	135.0	151.0		736,736	-8.5	0.0	19	dbSNP_134	151	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PVRL2	NM_001042724.1,NM_002856.2	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	246/539,246/480	45375367	1,13005	2203	4300	6503	SO:0001583	missense	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45375367G>A	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.736G>A	19.37:g.45375367G>A	ENSP00000252483:p.Glu246Lys					PVRL2_uc002ozv.2_Missense_Mutation_p.E246K	p.E246K	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	3	1126	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	246			Ig-like C2-type 1.|Extracellular (Potential).		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	c.736G>A	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.261482	0.23051	0.0	1.16E-4	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.76578	-1.03;-1.03	4.25	-8.5	0.00927	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.642500	0.03334	N	0.193855	T	0.59404	0.2191	L	0.28400	0.85	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.17433	0.018;0.01	T	0.45571	-0.9252	10	0.49607	T	0.09	.	1.2	0.01883	0.1661:0.2023:0.4301:0.2015	.	246;246	Q92692;Q92692-2	PVRL2_HUMAN;.	K	246	ENSP00000252483:E246K;ENSP00000252485:E246K	ENSP00000252483:E246K	E	+	1	0	PVRL2	50067207	0.000000	0.05858	0.001000	0.08648	0.909000	0.53808	-3.557000	0.00432	-2.217000	0.00731	-0.367000	0.07326	GAG		0.592	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		5	73	0	0	0	0	5	73				
NLRP12	91662	broad.mit.edu	37	19	54313983	54313983	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:54313983C>A	ENST00000324134.6	-	3	1098	c.930G>T	c.(928-930)tgG>tgT	p.W310C	NLRP12_ENST00000391773.1_Missense_Mutation_p.W310C|NLRP12_ENST00000391775.3_Missense_Mutation_p.W310C|NLRP12_ENST00000345770.5_Missense_Mutation_p.W310C|NLRP12_ENST00000535162.1_Missense_Mutation_p.W310C|NLRP12_ENST00000354278.3_Missense_Mutation_p.W310C|NLRP12_ENST00000391772.1_Missense_Mutation_p.W310C|NLRP12_ENST00000351894.4_Missense_Mutation_p.W310C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	310	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.W310*(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCAGAGGCACCAGGGTCCCT	0.572																																						uc002qch.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(928-930)TGG>TGT		NLR family, pyrin domain containing 12 isoform							45.0	47.0	46.0					19																	54313983		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313983C>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.930G>T	19.37:g.54313983C>A	ENSP00000319377:p.Trp310Cys					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.W310C|NLRP12_uc002qcj.3_Missense_Mutation_p.W310C|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.W310C	p.W310C	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1150	-	Ovarian(34;0.19)		310			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.930G>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	7.858	0.725545	0.15439	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.73575	-0.69;-0.72;-0.76;-0.76;-0.74;-0.69;-0.74	4.47	0.668	0.17912	NACHT nucleoside triphosphatase (1);	0.770639	0.11134	N	0.596045	T	0.50599	0.1625	N	0.04355	-0.22	0.25645	N	0.986168	B;B;B;B	0.16166	0.016;0.006;0.006;0.007	B;B;B;B	0.17433	0.018;0.018;0.018;0.016	T	0.47169	-0.9138	10	0.87932	D	0	.	7.3617	0.26750	0.3275:0.5125:0.16:0.0	.	310;310;310;310	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	C	310	ENSP00000319377:W310C;ENSP00000438030:W310C;ENSP00000340473:W310C;ENSP00000346231:W310C;ENSP00000375655:W310C;ENSP00000375653:W310C;ENSP00000375652:W310C	ENSP00000319377:W310C	W	-	3	0	NLRP12	59005795	0.001000	0.12720	0.802000	0.32245	0.808000	0.45660	0.352000	0.20113	0.415000	0.25817	0.306000	0.20318	TGG		0.572	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		6	57	1	0	3.6e-05	4.04e-05	6	57				
PEG3	5178	broad.mit.edu	37	19	57335885	57335885	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:57335885G>C	ENST00000326441.9	-	4	502	c.139C>G	c.(139-141)Cag>Gag	p.Q47E	PEG3_ENST00000423103.2_Missense_Mutation_p.Q47E|PEG3_ENST00000593695.1_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593931.1_5'Flank|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	47	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)		CGAAACCTCTGATGAAAAAAC	0.502																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(139-141)CAG>GAG		paternally expressed 3 isoform 1							73.0	74.0	74.0					19																	57335885		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335885G>C	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.139C>G	19.37:g.57335885G>C	ENSP00000326581:p.Gln47Glu					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_Missense_Mutation_p.Q47E|PEG3_uc002qnv.2_Missense_Mutation_p.Q47E|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.Q47E	p.Q47E	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	1	490	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	47			SCAN box.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.139C>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859964	0.71834	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.07327	3.2;3.2	4.88	2.78	0.32641	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.39020	N	0.001498	T	0.20901	0.0503	M	0.69463	2.115	.	.	.	D	0.63046	0.992	D	0.77004	0.989	T	0.13602	-1.0503	8	.	.	.	-32.2303	6.4963	0.22144	0.2105:0.0:0.7895:0.0	.	47	Q9GZU2	PEG3_HUMAN	E	47	ENSP00000326581:Q47E;ENSP00000403051:Q47E	.	Q	-	1	0	ZIM2	62027697	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.801000	0.27055	1.386000	0.46466	0.655000	0.94253	CAG		0.502	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			14	51	0	0	0	0	14	51				
ZNF547	284306	broad.mit.edu	37	19	57889020	57889020	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr19:57889020C>G	ENST00000282282.3	+	4	826	c.676C>G	c.(676-678)Cac>Gac	p.H226D	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTGTAAGTCTCACCTTGTTCG	0.433																																						uc002qol.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(676-678)CAC>GAC		zinc finger protein 547							103.0	94.0	97.0					19																	57889020		2203	4300	6503	SO:0001583	missense	284306				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57889020C>G	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.676C>G	19.37:g.57889020C>G	ENSP00000282282:p.His226Asp					ZNF547_uc002qpm.3_Missense_Mutation_p.H152D|ZNF547_uc010ygx.1_Missense_Mutation_p.H226D	p.H226D	NM_173631	NP_775902	Q8IVP9	ZN547_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	869	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	226			C2H2-type 4.		A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	c.676C>G	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	C	3.822	-0.037534	0.07497	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.13089	2.62	1.87	-3.74	0.04385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.04355	-0.22	0.09310	N	1	B;B;B	0.21225	0.002;0.053;0.0	B;B;B	0.26094	0.002;0.066;0.003	T	0.41395	-0.9511	9	0.11182	T	0.66	.	1.6135	0.02698	0.4405:0.1745:0.2666:0.1184	.	226;226;226	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	D	226	ENSP00000282282:H226D	ENSP00000282282:H226D	H	+	1	0	ZNF547	62580832	0.000000	0.05858	0.000000	0.03702	0.978000	0.69477	-7.883000	0.00028	-1.192000	0.02691	0.491000	0.48974	CAC		0.433	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465787.1	NM_173631		5	84	0	0	0	0	5	84				
KIDINS220	57498	broad.mit.edu	37	2	8934023	8934023	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:8934023T>C	ENST00000256707.3	-	12	1374	c.1193A>G	c.(1192-1194)tAt>tGt	p.Y398C	KIDINS220_ENST00000418530.1_Missense_Mutation_p.Y356C|KIDINS220_ENST00000473731.1_Missense_Mutation_p.Y398C|KIDINS220_ENST00000319688.5_Missense_Mutation_p.Y399C|KIDINS220_ENST00000427284.1_Missense_Mutation_p.Y398C	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	398					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTGGGCCTATAAAGTAATCG	0.403																																						uc002qzc.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1192-1194)TAT>TGT		kinase D-interacting substrate of 220 kDa							87.0	80.0	82.0					2																	8934023		1821	4077	5898	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8934023T>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1193A>G	2.37:g.8934023T>C	ENSP00000256707:p.Tyr398Cys					KIDINS220_uc010yiv.1_Missense_Mutation_p.Y164C|KIDINS220_uc002qzd.2_Missense_Mutation_p.Y356C|KIDINS220_uc010yiw.1_Missense_Mutation_p.Y399C	p.Y398C	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			12	1375	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		398			Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.1193A>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	t	15.75	2.924975	0.52759	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.53206	0.63;2.41;2.41;2.41;2.41;2.41;2.41	5.83	5.83	0.93111	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.64538	0.2607	L	0.49126	1.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.999;1.0;0.999	T	0.66575	-0.5889	10	0.72032	D	0.01	.	16.2533	0.82498	0.0:0.0:0.0:1.0	.	399;399;356;398	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	C	145;82;398;398;356;398;399;399	ENSP00000420364:Y145C;ENSP00000256707:Y398C;ENSP00000411849:Y398C;ENSP00000414923:Y356C;ENSP00000418974:Y398C;ENSP00000419964:Y399C;ENSP00000319947:Y399C	ENSP00000256707:Y398C	Y	-	2	0	KIDINS220	8851474	1.000000	0.71417	0.136000	0.22124	0.135000	0.20990	7.631000	0.83237	2.240000	0.73641	0.515000	0.50301	TAT		0.403	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		15	46	0	0	0	0	15	46				
SLC8A1	6546	broad.mit.edu	37	2	40655980	40655980	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:40655980C>G	ENST00000403092.1	-	2	1474	c.1441G>C	c.(1441-1443)Gat>Cat	p.D481H	SLC8A1_ENST00000408028.2_Missense_Mutation_p.D481H|SLC8A1_ENST00000406785.2_Missense_Mutation_p.D481H|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D481H|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D481H|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D481H|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D481H|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D481H|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D481H|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D481H			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	481	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATATCATCATCTATGATACCC	0.418																																						uc002rrx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1441-1443)GAT>CAT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						75.0	70.0	72.0					2																	40655980		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40655980C>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1441G>C	2.37:g.40655980C>G	ENSP00000384763:p.Asp481His					SLC8A1_uc002rry.2_Missense_Mutation_p.D481H|SLC8A1_uc002rrz.2_Missense_Mutation_p.D481H|SLC8A1_uc002rsa.2_Missense_Mutation_p.D481H|SLC8A1_uc002rsd.3_Missense_Mutation_p.D481H|SLC8A1_uc002rsb.1_Missense_Mutation_p.D481H|SLC8A1_uc010fan.1_Missense_Mutation_p.D481H|SLC8A1_uc002rsc.1_Missense_Mutation_p.D481H	p.D481H	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	1465	-			481			Calx-beta 1.|Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.1441G>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059553	0.55325	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	6.17	6.17	0.99709	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	H	0.96269	3.795	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.989;1.0;1.0;1.0	T	0.83341	-0.0008	10	0.87932	D	0	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	481;481;481;481;481	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	H	481	ENSP00000383886:D481H;ENSP00000440727:D481H;ENSP00000384763:D481H;ENSP00000385678:D481H;ENSP00000385188:D481H;ENSP00000385535:D481H;ENSP00000332931:D481H;ENSP00000384908:D481H;ENSP00000385811:D481H;ENSP00000443515:D481H	ENSP00000332931:D481H	D	-	1	0	SLC8A1	40509484	1.000000	0.71417	0.971000	0.41717	0.726000	0.41606	7.663000	0.83820	2.941000	0.99782	0.655000	0.94253	GAT		0.418	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		4	59	0	0	0	0	4	59				
BCL11A	53335	broad.mit.edu	37	2	60688312	60688312	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:60688312C>T	ENST00000335712.6	-	4	1962	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.E545K|BCL11A_ENST00000538214.1_Missense_Mutation_p.E545K|BCL11A_ENST00000356842.4_Missense_Mutation_p.E579K|BCL11A_ENST00000537768.1_Missense_Mutation_p.E248K	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	579					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTGTGGCCCTCGGCCTCGGCC	0.667			T	IGH@	B-CLL																																	uc002sae.1		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1735-1737)GAG>AAG		B-cell CLL/lymphoma 11A isoform 1							22.0	24.0	23.0					2																	60688312		2191	4275	6466	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688312C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1735G>A	2.37:g.60688312C>T	ENSP00000338774:p.Glu579Lys					BCL11A_uc002sab.2_Missense_Mutation_p.E579K|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Missense_Mutation_p.E248K|BCL11A_uc010ypj.1_Missense_Mutation_p.E545K|BCL11A_uc002sad.1_Missense_Mutation_p.E427K|BCL11A_uc002saf.1_Missense_Mutation_p.E545K	p.E579K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1963	-			579					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1735G>A	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	9.327	1.059440	0.19987	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.08193	3.12;3.42;3.29;3.41;3.36	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000002	T	0.05227	0.0139	N	0.08118	0	0.53688	D	0.999972	P;P;P;P;P	0.39131	0.661;0.628;0.611;0.611;0.659	B;B;B;B;B	0.27796	0.078;0.053;0.059;0.053;0.083	T	0.46275	-0.9203	10	0.52906	T	0.07	-3.0403	20.1195	0.97955	0.0:1.0:0.0:0.0	.	545;248;545;579;579	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	K	579;604;545;248;579;545	ENSP00000349300:E579K;ENSP00000438303:E545K;ENSP00000443712:E248K;ENSP00000338774:E579K;ENSP00000351307:E545K	ENSP00000338774:E579K	E	-	1	0	BCL11A	60541816	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.446000	0.44908	2.759000	0.94783	0.650000	0.86243	GAG		0.667	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		6	24	0	0	0	0	6	24				
REG3G	130120	broad.mit.edu	37	2	79255340	79255340	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:79255340C>G	ENST00000272324.5	+	6	650	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	REG3G_ENST00000393897.2_Missense_Mutation_p.L156V|REG3G_ENST00000409471.1_Missense_Mutation_p.L110V	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	156	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTAGGATTTCTGAAGTGGAA	0.483																																						uc002snw.2		NA																	0					0						c.(466-468)CTG>GTG		regenerating islet-derived 3 gamma precursor							72.0	70.0	71.0					2																	79255340		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79255340C>G	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.466C>G	2.37:g.79255340C>G	ENSP00000272324:p.Leu156Val					REG3G_uc002snx.2_Missense_Mutation_p.L156V|REG3G_uc010ffu.2_Missense_Mutation_p.L110V	p.L156V	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			6	551	+			156			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.466C>G	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298056	0.23650	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.18810	2.19;2.19;2.19	4.66	3.79	0.43588	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.504996	0.16109	N	0.229185	T	0.33876	0.0878	M	0.80982	2.52	0.28119	N	0.930693	D;B	0.53312	0.959;0.123	P;B	0.52823	0.71;0.437	T	0.16630	-1.0396	10	0.16896	T	0.51	.	8.7405	0.34554	0.0:0.8972:0.0:0.1028	.	110;156	Q3SYE6;Q6UW15	.;REG3G_HUMAN	V	156;156;110	ENSP00000377475:L156V;ENSP00000272324:L156V;ENSP00000387105:L110V	ENSP00000272324:L156V	L	+	1	2	REG3G	79108848	0.017000	0.18338	0.824000	0.32777	0.019000	0.09904	0.257000	0.18369	1.329000	0.45376	0.650000	0.86243	CTG		0.483	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		12	54	0	0	0	0	12	54				
REG1A	5967	broad.mit.edu	37	2	79349207	79349207	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:79349207A>T	ENST00000233735.1	+	4	380	c.277A>T	c.(277-279)Act>Tct	p.T93S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	93	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.T93P(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GGAGAGTGGCACTGATGACTT	0.507																																						uc002snz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(277-279)ACT>TCT		regenerating islet-derived 1 alpha precursor							144.0	127.0	133.0					2																	79349207		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349207A>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.277A>T	2.37:g.79349207A>T	ENSP00000233735:p.Thr93Ser					REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.T93S	p.T93S	NM_002909	NP_002900	P05451	REG1A_HUMAN			4	380	+			93			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.277A>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	a	9.812	1.183444	0.21870	.	.	ENSG00000115386	ENST00000233735	T	0.07327	3.2	3.51	1.03	0.20045	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.757532	0.10897	N	0.622005	T	0.05823	0.0152	N	0.20357	0.565	0.09310	N	1	P	0.43352	0.804	B	0.42087	0.375	T	0.36696	-0.9737	10	0.38643	T	0.18	.	5.1058	0.14783	0.7353:0.0:0.2647:0.0	.	93	P05451	REG1A_HUMAN	S	93	ENSP00000233735:T93S	ENSP00000233735:T93S	T	+	1	0	REG1A	79202715	0.000000	0.05858	0.002000	0.10522	0.706000	0.40770	-0.420000	0.07062	0.110000	0.17919	0.460000	0.39030	ACT		0.507	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		17	59	0	0	0	0	17	59				
IMMT	10989	broad.mit.edu	37	2	86398430	86398430	+	Missense_Mutation	SNP	C	C	T	rs368629905		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:86398430C>T	ENST00000410111.3	-	5	847	c.460G>A	c.(460-462)Gat>Aat	p.D154N	IMMT_ENST00000254636.5_Missense_Mutation_p.D56N|IMMT_ENST00000449247.2_Missense_Mutation_p.D143N|IMMT_ENST00000409051.2_Intron|IMMT_ENST00000442664.2_Missense_Mutation_p.D154N|IMMT_ENST00000490238.1_5'Flank	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	154				D -> E (in Ref. 4; BAG35183). {ECO:0000305}.	mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GACAGGGTATCACCTGCTGCA	0.438																																						uc002sqz.3		NA																	0				skin(1)	1						c.(460-462)GAT>AAT		inner membrane protein, mitochondrial isoform 1							56.0	56.0	56.0					2																	86398430		1914	4122	6036	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86398430C>T	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.460G>A	2.37:g.86398430C>T	ENSP00000387262:p.Asp154Asn					IMMT_uc002sqy.3_5'UTR|IMMT_uc002srb.3_Missense_Mutation_p.D143N|IMMT_uc002sra.3_Missense_Mutation_p.D154N|IMMT_uc010ytd.1_Missense_Mutation_p.D142N|IMMT_uc010yte.1_Intron|IMMT_uc002src.1_5'UTR|IMMT_uc002srd.2_Missense_Mutation_p.D154N|IMMT_uc002sre.3_Missense_Mutation_p.D143N|IMMT_uc010ytf.1_Intron|IMMT_uc010fgs.1_Missense_Mutation_p.D151N	p.D154N	NM_006839	NP_006830	Q16891	IMMT_HUMAN			5	848	-			154	D -> E (in Ref. 4; BAG35183).		Mitochondrial intermembrane (Potential).		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.460G>A	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460894	0.63513	.	.	ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000545283;ENST00000377310;ENST00000398211	T;T;T;T	0.33438	1.41;1.5;1.42;1.45	4.9	4.9	0.64082	.	0.106709	0.64402	D	0.000006	T	0.44603	0.1301	L	0.36672	1.1	0.80722	D	1	P;D;D;B;P;P;P	0.89917	0.775;1.0;0.976;0.27;0.734;0.734;0.775	P;D;D;B;P;P;P	0.91635	0.678;0.999;0.95;0.222;0.549;0.549;0.735	T	0.20405	-1.0276	10	0.33940	T	0.23	-17.9907	14.7977	0.69889	0.0:1.0:0.0:0.0	.	142;151;143;154;143;154;154	B4DKR1;Q05DN3;B4E2B5;F8W9I1;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;.;IMMT_HUMAN	N	56;143;154;154;143;154;143	ENSP00000254636:D56N;ENSP00000396899:D143N;ENSP00000387262:D154N;ENSP00000407788:D154N	ENSP00000254636:D56N	D	-	1	0	IMMT	86251941	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.446000	0.66600	2.274000	0.75844	0.491000	0.48974	GAT		0.438	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		3	10	0	0	0	0	3	10				
LIPT1	51601	broad.mit.edu	37	2	99779504	99779504	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:99779504T>C	ENST00000393473.2	+	3	1308	c.1084T>C	c.(1084-1086)Tgg>Cgg	p.W362R	LIPT1_ENST00000393477.3_Missense_Mutation_p.W362R|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000340066.1_Missense_Mutation_p.W362R|LIPT1_ENST00000393471.2_Missense_Mutation_p.W362R|LIPT1_ENST00000393474.3_Missense_Mutation_p.W362R	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	362					cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	AAACAGTAAATGGAATATTCT	0.303																																					GBM(84;665 1268 21657 25485 30647)	uc002szm.3		NA																	0					0						c.(1084-1086)TGG>CGG		lipoyltransferase 1 precursor	Lipoic Acid(DB00166)						41.0	42.0	42.0					2																	99779504		2047	4219	6266	SO:0001583	missense	51601				lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity	g.chr2:99779504T>C	AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.1084T>C	2.37:g.99779504T>C	ENSP00000377115:p.Trp362Arg					MRPL30_uc002szl.1_Intron|LIPT1_uc002szn.3_Missense_Mutation_p.W362R|LIPT1_uc002szo.3_Missense_Mutation_p.W362R|LIPT1_uc002szp.3_Missense_Mutation_p.W362R|LIPT1_uc002szq.3_Missense_Mutation_p.W362R|MRPL30_uc002szr.2_Intron	p.W362R	NM_145198	NP_660199	Q9Y234	LIPT_HUMAN			4	1424	+			362					Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	c.1084T>C	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.288713	0.40494	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471	.	.	.	5.17	5.17	0.71159	.	0.330045	0.32068	N	0.006624	T	0.51805	0.1696	L	0.57536	1.79	0.80722	D	1	P	0.44690	0.841	B	0.40134	0.32	T	0.50750	-0.8791	9	0.13853	T	0.58	-10.7316	14.3529	0.66716	0.0:0.0:0.0:1.0	.	362	Q9Y234	LIPT_HUMAN	R	362	.	ENSP00000342071:W362R	W	+	1	0	LIPT1	99145936	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.438000	0.59961	2.175000	0.68902	0.528000	0.53228	TGG		0.303	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929		8	66	0	0	0	0	8	66				
MARCO	8685	broad.mit.edu	37	2	119750046	119750046	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:119750046G>A	ENST00000327097.4	+	15	1381	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	MARCO_ENST00000541757.1_Missense_Mutation_p.E338K	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	416	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGAAAAAGGTGAAAGAGGTAA	0.433																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1246-1248)GAA>AAA		macrophage receptor with collagenous structure							113.0	122.0	119.0					2																	119750046		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119750046G>A	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1246G>A	2.37:g.119750046G>A	ENSP00000318916:p.Glu416Lys					MARCO_uc010yyf.1_Missense_Mutation_p.E338K	p.E416K	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			15	1378	+			416			Collagen-like.|Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.1246G>A	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275414	0.23307	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	T;T	0.25579	1.79;1.79	4.32	1.34	0.21922	.	0.447542	0.21443	N	0.074444	T	0.41305	0.1153	M	0.68317	2.08	0.26119	N	0.980573	P	0.48911	0.917	P	0.57679	0.825	T	0.29518	-1.0009	9	.	.	.	.	12.8444	0.57821	0.0:0.5561:0.4439:0.0	.	416	Q9UEW3	MARCO_HUMAN	K	416;416;338	ENSP00000318916:E416K;ENSP00000441769:E338K	.	E	+	1	0	MARCO	119466516	0.390000	0.25213	0.998000	0.56505	0.217000	0.24651	-0.585000	0.05794	0.267000	0.21916	-0.165000	0.13383	GAA		0.433	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		4	38	0	0	0	0	4	38				
NEB	4703	broad.mit.edu	37	2	152521102	152521102	+	Nonsense_Mutation	SNP	C	C	T	rs201636991		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:152521102C>T	ENST00000172853.10	-	44	5511	c.5364G>A	c.(5362-5364)tgG>tgA	p.W1788*	NEB_ENST00000604864.1_Nonsense_Mutation_p.W1788*|NEB_ENST00000409198.1_Nonsense_Mutation_p.W1788*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W1788*|NEB_ENST00000397345.3_Nonsense_Mutation_p.W1788*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W1788*			P20929	NEBU_HUMAN	nebulin	1788					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTCCTCTTCCCAGCCAGCTT	0.418																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(5362-5364)TGG>TGA		nebulin isoform 3							101.0	93.0	96.0					2																	152521102		1853	4102	5955	SO:0001587	stop_gained	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152521102C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5364G>A	2.37:g.152521102C>T	ENSP00000172853:p.Trp1788*						p.W1788*	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	44	5555	-			1788			Nebulin 46.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	ENST00000172853.10	37	c.5364G>A		.	.	.	.	.	.	.	.	.	.	C	47	12.989727	0.99711	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.91	5.91	0.95273	.	0.156458	0.47455	D	0.000227	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	.	.	.	X	1788	.	ENSP00000172853:W1788X	W	-	3	0	NEB	152229348	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.154000	0.42291	2.813000	0.96785	0.655000	0.94253	TGG		0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	14	0	0	0	0	5	14				
SLC4A10	57282	broad.mit.edu	37	2	162735688	162735688	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:162735688G>A	ENST00000446997.1	+	9	1089	c.996G>A	c.(994-996)tcG>tcA	p.S332S	SLC4A10_ENST00000421911.1_Silent_p.S332S|SLC4A10_ENST00000535165.1_Silent_p.S332S|SLC4A10_ENST00000375514.5_Silent_p.S313S|SLC4A10_ENST00000272716.5_Silent_p.S302S|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Silent_p.S302S	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	332					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)	CTGAAGCATCGAACATCTTAG	0.418																																						uc002ubx.3		NA																	0				ovary(2)|lung(2)|pancreas(1)	5						c.(994-996)TCG>TCA		solute carrier family 4, sodium bicarbonate							135.0	132.0	133.0					2																	162735688		1896	4121	6017	SO:0001819	synonymous_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162735688G>A		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.996G>A	2.37:g.162735688G>A						SLC4A10_uc010fpa.1_Silent_p.S344S|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Silent_p.S302S|SLC4A10_uc010zcs.1_Silent_p.S313S	p.S332S	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			9	1180	+			332			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	c.996G>A	CCDS54411.1																																																																																				0.418	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		9	51	0	0	0	0	9	51				
XIRP2	129446	broad.mit.edu	37	2	168106863	168106863	+	Silent	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:168106863G>C	ENST00000409195.1	+	9	9050	c.8961G>C	c.(8959-8961)ctG>ctC	p.L2987L	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.L2987L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L2765L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2812					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.L2987L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGGATGGCTGATAAGTGAAG	0.343																																						uc002udx.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(7)|ovary(6)|pancreas(1)	14						c.(8959-8961)CTG>CTC		xin actin-binding repeat containing 2 isoform 1							88.0	86.0	87.0					2																	168106863		1831	4087	5918	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106863G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8961G>C	2.37:g.168106863G>C						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L2812L|XIRP2_uc010fpq.2_Silent_p.L2765L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Silent_p.L333L	p.L2987L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8979	+			2812					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.8961G>C	CCDS42769.1																																																																																				0.343	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		22	96	0	0	0	0	22	96				
PDK1	5163	broad.mit.edu	37	2	173429352	173429352	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:173429352C>G	ENST00000282077.3	+	4	714	c.532C>G	c.(532-534)Cag>Gag	p.Q178E	PDK1_ENST00000544863.1_Missense_Mutation_p.Q23E|PDK1_ENST00000392571.2_Missense_Mutation_p.Q198E|PDK1_ENST00000410055.1_Missense_Mutation_p.Q178E|PDK1_ENST00000543905.1_Missense_Mutation_p.Q102E			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	178	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CCAGAATGTTCAGTACTTTTT	0.433									Autosomal Dominant Polycystic Kidney Disease																													uc002uhr.2		NA																	0				lung(3)|central_nervous_system(1)	4						c.(532-534)CAG>GAG		pyruvate dehydrogenase kinase 1 precursor							144.0	126.0	132.0					2																	173429352		2203	4300	6503	SO:0001583	missense	5163	Autosomal_Dominant_Polycystic_Kidney_Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr2:173429352C>G	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.532C>G	2.37:g.173429352C>G	ENSP00000282077:p.Gln178Glu					PDK1_uc010zdz.1_Missense_Mutation_p.Q23E|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Missense_Mutation_p.Q198E|PDK1_uc002uhs.2_Missense_Mutation_p.Q178E|PDK1_uc010zeb.1_Missense_Mutation_p.Q198E	p.Q178E	NM_002610	NP_002601	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		4	632	+			178			Histidine kinase.		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	c.532C>G	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984085	0.93044	.	.	ENSG00000152256	ENST00000443353;ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055;ENST00000416991;ENST00000439519	T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.3	5.3	0.74995	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.052174	0.85682	D	0.000000	T	0.69424	0.3109	H	0.96547	3.84	0.80722	D	1	D;P	0.56035	0.974;0.697	P;P	0.57371	0.793;0.819	T	0.79885	-0.1614	10	0.54805	T	0.06	-18.5215	18.9557	0.92658	0.0:1.0:0.0:0.0	.	178;198	Q15118;E9PD65	PDK1_HUMAN;.	E	102;102;23;178;198;178;96;102	ENSP00000399558:Q102E;ENSP00000438567:Q102E;ENSP00000437502:Q23E;ENSP00000282077:Q178E;ENSP00000376352:Q198E;ENSP00000386985:Q178E;ENSP00000399160:Q96E;ENSP00000388366:Q102E	ENSP00000282077:Q178E	Q	+	1	0	PDK1	173137598	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.467000	0.83353	0.585000	0.79938	CAG		0.433	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		6	65	0	0	0	0	6	65				
TTN	7273	broad.mit.edu	37	2	179411092	179411092	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:179411092G>C	ENST00000591111.1	-	292	90267	c.90043C>G	c.(90043-90045)Cta>Gta	p.L30015V	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L29088V|TTN_ENST00000589042.1_Missense_Mutation_p.L31656V|TTN_ENST00000342175.6_Missense_Mutation_p.L22783V|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L22591V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L22716V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30015	Ig-like 136.				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)			CAGAGATCTAGCTCCTTGTCT	0.438																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(87262-87264)CTA>GTA		titin isoform N2-A							136.0	135.0	135.0					2																	179411092		1965	4150	6115	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411092G>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.90043C>G	2.37:g.179411092G>C	ENSP00000465570:p.Leu30015Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L22783V|TTN_uc010zfi.1_Missense_Mutation_p.L22716V|TTN_uc010zfj.1_Missense_Mutation_p.L22591V	p.L29088V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		291	87486	-			30015					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.87262C>G		.	.	.	.	.	.	.	.	.	.	G	13.76	2.334287	0.41297	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.81	3.7	0.42460	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72946	0.3524	N	0.20610	0.595	0.45594	D	0.998533	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.76963	-0.2764	9	0.87932	D	0	.	13.2038	0.59785	0.1975:0.0:0.8025:0.0	.	22591;22716;22783;30015	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	29088;22591;22783;22716;22588	ENSP00000343764:L29088V;ENSP00000434586:L22591V;ENSP00000340554:L22783V;ENSP00000352154:L22716V	ENSP00000340554:L22783V	L	-	1	2	TTN	179119338	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.260000	0.32968	1.460000	0.47911	0.655000	0.94253	CTA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	74	0	0	0	0	14	74				
TTN	7273	broad.mit.edu	37	2	179411461	179411461	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:179411461G>C	ENST00000591111.1	-	291	89995	c.89771C>G	c.(89770-89772)tCt>tGt	p.S29924C	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S28997C|TTN_ENST00000589042.1_Missense_Mutation_p.S31565C|TTN_ENST00000342175.6_Missense_Mutation_p.S22692C|TTN_ENST00000460472.2_Missense_Mutation_p.S22500C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22625C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29924	Fibronectin type-III 118. {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)			GAAATTGTCAGATACAATGGT	0.483																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(86989-86991)TCT>TGT		titin isoform N2-A							104.0	104.0	104.0					2																	179411461		2081	4209	6290	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411461G>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.89771C>G	2.37:g.179411461G>C	ENSP00000465570:p.Ser29924Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S22692C|TTN_uc010zfi.1_Missense_Mutation_p.S22625C|TTN_uc010zfj.1_Missense_Mutation_p.S22500C	p.S28997C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		290	87214	-			29924					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.86990C>G		.	.	.	.	.	.	.	.	.	.	G	15.90	2.969150	0.53614	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77432	0.4129	M	0.74647	2.275	0.40250	D	0.978052	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.68943	0.947;0.961;0.961;0.961	T	0.78570	-0.2153	9	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	22500;22625;22692;29924	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	28997;22500;22692;22625;22497	ENSP00000343764:S28997C;ENSP00000434586:S22500C;ENSP00000340554:S22692C;ENSP00000352154:S22625C	ENSP00000340554:S22692C	S	-	2	0	TTN	179119707	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	6.585000	0.74062	2.854000	0.98071	0.655000	0.94253	TCT		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	43	0	0	0	0	15	43				
TTN	7273	broad.mit.edu	37	2	179585815	179585815	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:179585815C>T	ENST00000591111.1	-	77	22204	c.21980G>A	c.(21979-21981)cGa>cAa	p.R7327Q	RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R6400Q|TTN_ENST00000589042.1_Missense_Mutation_p.R7644Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12890	Ig-like 55.				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)			GCTGTCATTTCGGAACCATGA	0.393																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(19198-19200)CGA>CAA		titin isoform N2-A							108.0	102.0	104.0					2																	179585815		1865	4112	5977	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585815C>T	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.21980G>A	2.37:g.179585815C>T	ENSP00000465570:p.Arg7327Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3061Q	p.R6400Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		76	19423	-			7327					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.19199G>A		.	.	.	.	.	.	.	.	.	.	C	13.16	2.153191	0.38021	.	.	ENSG00000155657	ENST00000342992	T	0.47177	0.85	6.16	5.28	0.74379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40956	0.1138	L	0.49778	1.585	0.80722	D	1	D	0.53151	0.958	B	0.41917	0.37	T	0.41288	-0.9517	9	0.87932	D	0	.	8.3473	0.32281	0.0:0.7736:0.0:0.2264	.	7327	Q8WZ42	TITIN_HUMAN	Q	6400	ENSP00000343764:R6400Q	ENSP00000343764:R6400Q	R	-	2	0	TTN	179294060	0.128000	0.22383	1.000000	0.80357	0.932000	0.56968	0.408000	0.21065	2.937000	0.99478	0.650000	0.86243	CGA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	73	0	0	0	0	15	73				
SPHKAP	80309	broad.mit.edu	37	2	228882641	228882641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr2:228882641G>A	ENST00000392056.3	-	7	2975	c.2929C>T	c.(2929-2931)Cga>Tga	p.R977*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.R977*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	977						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCAAGGATCGGCAGGGTACG	0.532																																						uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(2929-2931)CGA>TGA		sphingosine kinase type 1-interacting protein							83.0	76.0	79.0					2																	228882641		2203	4300	6503	SO:0001587	stop_gained	80309					cytoplasm	protein binding	g.chr2:228882641G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2929C>T	2.37:g.228882641G>A	ENSP00000375909:p.Arg977*					SPHKAP_uc002vpp.2_Nonsense_Mutation_p.R977*|SPHKAP_uc010zlx.1_Nonsense_Mutation_p.R977*	p.R977*	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	2976	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	977					Q68DA3|Q68DR8|Q9C0I5	Nonsense_Mutation	SNP	ENST00000392056.3	37	c.2929C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	38	6.745373	0.97809	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	.	.	.	6.08	3.22	0.36961	.	0.056630	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	8.5602	0.33505	0.0708:0.0:0.5178:0.4114	.	.	.	.	X	977	.	ENSP00000339886:R977X	R	-	1	2	SPHKAP	228590885	1.000000	0.71417	0.990000	0.47175	0.505000	0.33919	3.078000	0.50096	0.836000	0.34901	0.655000	0.94253	CGA		0.532	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		22	56	0	0	0	0	22	56				
CSNK2A1	1457	broad.mit.edu	37	20	468206	468206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:468206G>A	ENST00000217244.3	-	12	1213	c.838C>T	c.(838-840)Cga>Tga	p.R280*	CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.R280*|CSNK2A1_ENST00000400217.2_Nonsense_Mutation_p.R144*|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.R280*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.R280*(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CGTTCCCATCGCTTTCGAGAG	0.507																																						uc002wdw.1		NA																	1	Substitution - Nonsense(1)		prostate(1)	ovary(1)	1						c.(838-840)CGA>TGA		casein kinase II alpha 1 subunit isoform a							83.0	75.0	77.0					20																	468206		2203	4300	6503	SO:0001587	stop_gained	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:468206G>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.838C>T	20.37:g.468206G>A	ENSP00000217244:p.Arg280*					CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.R280*|CSNK2A1_uc002wdy.1_Nonsense_Mutation_p.R144*	p.R280*	NM_177559	NP_808227	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		12	1231	-		Breast(17;0.231)	280			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Nonsense_Mutation	SNP	ENST00000217244.3	37	c.838C>T	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	G	40	8.278738	0.98740	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-6.9053	12.992	0.58625	0.0:0.0:0.8387:0.1613	.	.	.	.	X	280;280;280;280;144	.	ENSP00000217244:R280X	R	-	1	2	CSNK2A1	416206	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.346000	0.59367	2.713000	0.92767	0.585000	0.79938	CGA		0.507	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		5	61	0	0	0	0	5	61				
SLC4A11	83959	broad.mit.edu	37	20	3209061	3209061	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:3209061G>A	ENST00000380056.3	-	18	2497	c.2450C>T	c.(2449-2451)cCg>cTg	p.P817L	SLC4A11_ENST00000539553.2_Missense_Mutation_p.P801L|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Missense_Mutation_p.P844L	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	817	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTAGTGTGTCGGGGGGTACGC	0.672																																					NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2		NA																	0				ovary(1)	1						c.(2449-2451)CCG>CTG		solute carrier family 4 member 11							92.0	90.0	91.0					20																	3209061		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3209061G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2450C>T	20.37:g.3209061G>A	ENSP00000369396:p.Pro817Leu					SLC4A11_uc010zqe.1_Missense_Mutation_p.P844L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.P801L	p.P817L	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			18	2498	-			817			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.2450C>T	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160050	0.78226	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.78595	-1.19;-1.19;-1.19	5.37	5.37	0.77165	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82728	0.5100	M	0.74467	2.265	0.80722	D	1	D;D;P	0.54207	0.957;0.965;0.762	B;P;B	0.47891	0.424;0.56;0.293	D	0.85527	0.1207	10	0.72032	D	0.01	.	19.0884	0.93215	0.0:0.0:1.0:0.0	.	801;844;817	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	L	844;817;801	ENSP00000369399:P844L;ENSP00000369396:P817L;ENSP00000441370:P801L	ENSP00000369396:P817L	P	-	2	0	SLC4A11	3157061	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	9.788000	0.99064	2.515000	0.84797	0.455000	0.32223	CCG		0.672	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			16	97	0	0	0	0	16	97				
MROH8	140699	broad.mit.edu	37	20	35783534	35783534	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:35783534C>G	ENST00000400441.3	-	9	1005	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q	MROH8_ENST00000441008.2_Missense_Mutation_p.E322Q|MROH8_ENST00000217333.8_Intron			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	243																	CGTTCCCGCTCATGGTCTTTG	0.498																																						uc010zvu.1		NA																	0					0						c.(1036-1038)GAG>CAG		hypothetical protein LOC140699 isoform 1							128.0	122.0	124.0					20																	35783534		1931	4144	6075	SO:0001583	missense	140699							g.chr20:35783534C>G	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1006G>C	20.37:g.35783534C>G	ENSP00000383291:p.Glu336Gln					C20orf132_uc002xgk.2_Intron|C20orf132_uc002xgm.2_Missense_Mutation_p.E346Q|C20orf132_uc002xgn.2_Intron	p.E346Q	NM_152503	NP_689716	Q9H579	CT132_HUMAN			11	1127	-		Myeloproliferative disorder(115;0.00878)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.1036G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.99|17.99	3.522557|3.522557	0.64747|0.64747	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441|ENST00000343811;ENST00000400440	T;T|.	0.67345|.	-0.26;1.44|.	5.57|5.57	4.63|4.63	0.57726|0.57726	.|.	0.081086|.	0.52532|.	D|.	0.000066|.	T|T	0.70465|0.70465	0.3227|0.3227	M|M	0.83223|0.83223	2.63|2.63	0.33446|0.33446	D|D	0.583105|0.583105	D;D|.	0.76494|.	0.997;0.999|.	P;D|.	0.69479|.	0.887;0.964|.	T|T	0.79964|0.79964	-0.1581|-0.1581	10|5	0.40728|.	T|.	0.16|.	-7.5485|-7.5485	10.6879|10.6879	0.45854|0.45854	0.0:0.9119:0.0:0.0881|0.0:0.9119:0.0:0.0881	.|.	336;346|.	E7ETR9;Q6PF12|.	.;.|.	Q|I	322;336|362;366	ENSP00000392144:E322Q;ENSP00000383291:E336Q|.	ENSP00000383291:E336Q|.	E|M	-|-	1|3	0|0	C20orf132|C20orf132	35216948|35216948	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.618000|0.618000	0.37518|0.37518	3.746000|3.746000	0.55127|0.55127	1.507000|1.507000	0.48752|0.48752	-0.136000|-0.136000	0.14681|0.14681	GAG|ATG		0.498	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		26	97	0	0	0	0	26	97				
PTPRT	11122	broad.mit.edu	37	20	41100954	41100954	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:41100954C>T	ENST00000373187.1	-	8	1401	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	PTPRT_ENST00000356100.2_Missense_Mutation_p.E468K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E468K|PTPRT_ENST00000373198.4_Missense_Mutation_p.E468K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E468K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E468K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E468K			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	468	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATTCGGCCCTCGGGGTTAGAC	0.592																																						uc002xkg.2		NA																	0				skin(8)|ovary(7)|lung(5)	20						c.(1402-1404)GAG>AAG		protein tyrosine phosphatase, receptor type, T							56.0	60.0	58.0					20																	41100954		2084	4216	6300	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41100954C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1402G>A	20.37:g.41100954C>T	ENSP00000362283:p.Glu468Lys					PTPRT_uc010ggj.2_Missense_Mutation_p.E468K	p.E468K	NM_007050	NP_008981	O14522	PTPRT_HUMAN			8	1586	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	468			Extracellular (Potential).|Fibronectin type-III 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1402G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343487	0.95783	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.28	5.28	0.74379	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69513	0.3119	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.67231	0.95;0.893	T	0.70622	-0.4821	10	0.45353	T	0.12	.	18.8977	0.92430	0.0:1.0:0.0:0.0	.	468;468	O14522-1;O14522	.;PTPRT_HUMAN	K	468	ENSP00000362286:E468K;ENSP00000362283:E468K;ENSP00000362289:E468K;ENSP00000348408:E468K;ENSP00000362294:E468K;ENSP00000362280:E468K;ENSP00000362297:E468K	ENSP00000348408:E468K	E	-	1	0	PTPRT	40534368	1.000000	0.71417	0.992000	0.48379	0.957000	0.61999	7.652000	0.83633	2.480000	0.83734	0.455000	0.32223	GAG		0.592	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			20	60	0	0	0	0	20	60				
ELMO2	63916	broad.mit.edu	37	20	45000318	45000318	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:45000318C>G	ENST00000290246.6	-	18	1787	c.1593G>C	c.(1591-1593)gaG>gaC	p.E531D	ELMO2_ENST00000372176.1_Missense_Mutation_p.E443D|ELMO2_ENST00000439931.2_Missense_Mutation_p.E543D|ELMO2_ENST00000352077.2_Missense_Mutation_p.E529D|ELMO2_ENST00000396391.1_Missense_Mutation_p.E531D|ELMO2_ENST00000454865.2_Missense_Mutation_p.E263D|ELMO2_ENST00000445496.2_Missense_Mutation_p.E348D|ELMO2_ENST00000488853.1_5'Flank	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	531					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GCTGGATCTTCTCCCTCAGCT	0.617																																						uc002xrt.1		NA																	0				ovary(1)	1						c.(1591-1593)GAG>GAC		engulfment and cell motility 2							41.0	41.0	41.0					20																	45000318		2203	4300	6503	SO:0001583	missense	63916				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding	g.chr20:45000318C>G	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1593G>C	20.37:g.45000318C>G	ENSP00000290246:p.Glu531Asp					ELMO2_uc010zxq.1_Missense_Mutation_p.E263D|ELMO2_uc002xrs.1_Missense_Mutation_p.E278D|ELMO2_uc002xru.1_Missense_Mutation_p.E531D|ELMO2_uc010zxr.1_Missense_Mutation_p.E543D|ELMO2_uc010zxs.1_Missense_Mutation_p.E348D|ELMO2_uc002xrv.1_Missense_Mutation_p.E250D	p.E531D	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN			18	1803	-		Myeloproliferative disorder(115;0.0122)	531					E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	37	c.1593G>C	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413582	0.42817	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	4.69	3.75	0.43078	.	0.048279	0.85682	D	0.000000	T	0.44850	0.1313	M	0.67517	2.055	0.58432	D	0.999999	B;B;B;B	0.16396	0.0;0.017;0.001;0.001	B;B;B;B	0.19391	0.001;0.025;0.004;0.004	T	0.47787	-0.9090	10	0.66056	D	0.02	-28.4708	8.7785	0.34776	0.0:0.8287:0.0:0.1713	.	543;263;348;531	B4DRL5;B4DZ20;B7Z1S8;Q96JJ3	.;.;.;ELMO2_HUMAN	D	531;443;98;531;543;348;263;529	ENSP00000290246:E531D;ENSP00000361249:E443D;ENSP00000414329:E98D;ENSP00000379673:E531D;ENSP00000396519:E543D;ENSP00000409920:E348D;ENSP00000415641:E263D;ENSP00000326172:E529D	ENSP00000290246:E531D	E	-	3	2	ELMO2	44433725	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.159000	0.50731	1.329000	0.45376	0.655000	0.94253	GAG		0.617	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086		8	37	0	0	0	0	8	37				
PREX1	57580	broad.mit.edu	37	20	47274751	47274751	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:47274751C>T	ENST00000371941.3	-	17	1919	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	PREX1_ENST00000396220.1_Missense_Mutation_p.E633K	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	633	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCATAGTCCTCCTCCTGGGGC	0.672											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xtw.1		NA																	0				lung(3)|ovary(2)|pancreas(1)	6						c.(1897-1899)GAG>AAG		phosphatidylinositol-3,4,							211.0	194.0	200.0					20																	47274751		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47274751C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1897G>A	20.37:g.47274751C>T	ENSP00000361009:p.Glu633Lys		OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PREX1_uc002xtv.1_5'Flank	p.E633K	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		17	1920	-			633			PDZ.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.1897G>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381272	0.61845	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.13778	2.56;2.56	4.98	4.98	0.66077	Winged helix-turn-helix transcription repressor DNA-binding (1);PDZ/DHR/GLGF (3);	0.894650	0.09316	U	0.818865	T	0.12518	0.0304	N	0.19112	0.55	0.49687	D	0.999814	B	0.23185	0.081	B	0.19946	0.027	T	0.26849	-1.0091	10	0.24483	T	0.36	.	18.2743	0.90078	0.0:1.0:0.0:0.0	.	633	Q8TCU6	PREX1_HUMAN	K	633	ENSP00000361009:E633K;ENSP00000379522:E633K	ENSP00000361009:E633K	E	-	1	0	PREX1	46708158	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	5.563000	0.67352	2.284000	0.76573	0.655000	0.94253	GAG		0.672	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		14	206	0	0	0	0	14	206				
MYT1	4661	broad.mit.edu	37	20	62839693	62839693	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr20:62839693G>C	ENST00000328439.1	+	7	1508	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.E382Q	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGGCCTCCTGGAGCAGGCCAT	0.647																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	0				ovary(2)	2						c.(1144-1146)GAG>CAG		myelin transcription factor 1							63.0	56.0	58.0					20																	62839693		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839693G>C	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1144G>C	20.37:g.62839693G>C	ENSP00000327465:p.Glu382Gln					MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_Missense_Mutation_p.E14Q	p.E382Q	NM_004535	NP_004526	Q01538	MYT1_HUMAN			7	1508	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		382					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.1144G>C	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	18.78	3.696399	0.68386	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.71934	-0.61;1.53	4.46	4.46	0.54185	.	0.132938	0.48767	D	0.000177	D	0.84759	0.5543	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	D	0.87573	0.2479	10	0.72032	D	0.01	-22.7852	17.157	0.86794	0.0:0.0:1.0:0.0	.	382;382	F5H7M8;Q01538	.;MYT1_HUMAN	Q	382	ENSP00000327465:E382Q;ENSP00000442412:E382Q	ENSP00000327465:E382Q	E	+	1	0	MYT1	62310137	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.529000	0.98049	2.051000	0.60960	0.450000	0.29827	GAG		0.647	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		11	50	0	0	0	0	11	50				
PKNOX1	5316	broad.mit.edu	37	21	44450050	44450050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr21:44450050C>T	ENST00000291547.5	+	11	1361	c.1150C>T	c.(1150-1152)Cag>Tag	p.Q384*	PKNOX1_ENST00000432907.2_Nonsense_Mutation_p.Q267*	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	384					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GGACAGCCTTCAGTCTCTGTC	0.567																																						uc002zcq.1		NA																	0				large_intestine(2)	2						c.(1150-1152)CAG>TAG		PBX/knotted 1 homeobox 1							127.0	114.0	118.0					21																	44450050		2203	4300	6503	SO:0001587	stop_gained	5316						sequence-specific DNA binding	g.chr21:44450050C>T		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.1150C>T	21.37:g.44450050C>T	ENSP00000291547:p.Gln384*					PKNOX1_uc011aex.1_Nonsense_Mutation_p.Q267*	p.Q384*	NM_004571	NP_004562	P55347	PKNX1_HUMAN			11	1338	+			384					O00528|Q8IWT7	Nonsense_Mutation	SNP	ENST00000291547.5	37	c.1150C>T	CCDS13692.1	.	.	.	.	.	.	.	.	.	.	C	35	5.535192	0.96460	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-7.4164	19.2668	0.93990	0.0:1.0:0.0:0.0	.	.	.	.	X	384;267	.	ENSP00000291547:Q384X	Q	+	1	0	PKNOX1	43323119	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	7.084000	0.76866	2.547000	0.85894	0.591000	0.81541	CAG		0.567	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			18	87	0	0	0	0	18	87				
MN1	4330	broad.mit.edu	37	22	28193511	28193511	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr22:28193511C>T	ENST00000302326.4	-	1	3975	c.3021G>A	c.(3019-3021)tcG>tcA	p.S1007S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1007					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCCAGGATGGCGACGTGAGCG	0.697			T	ETV6	"""AML, meningioma"""																																	uc003adj.2		NA		Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		0				central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(3019-3021)TCG>TCA		meningioma  1							29.0	34.0	33.0					22																	28193511		2002	4149	6151	SO:0001819	synonymous_variant	4330						binding	g.chr22:28193511C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3021G>A	22.37:g.28193511C>T							p.S1007S	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	3976	-			1007					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.3021G>A	CCDS42998.1																																																																																				0.697	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		15	58	0	0	0	0	15	58				
ARL8B	55207	broad.mit.edu	37	3	5215724	5215724	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:5215724G>C	ENST00000256496.3	+	5	641	c.395G>C	c.(394-396)aGa>aCa	p.R132T	ARL8B_ENST00000419534.2_Intron|AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000468010.1_Intron	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	132					cell cycle (GO:0007049)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		GGAAACAAGAGAGATCTTCCT	0.313																																						uc003bqg.2		NA																	0					0						c.(394-396)AGA>ACA		ADP-ribosylation factor-like 10C							145.0	157.0	153.0					3																	5215724		2203	4300	6503	SO:0001583	missense	55207				cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity	g.chr3:5215724G>C	AK001564	CCDS2566.1	3p26.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000134108	ENSG00000134108		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25564	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10C"""	ARL10C		12477932	Standard	NM_018184		Approved	FLJ10702, Gie1	uc003bqg.3	Q9NVJ2	OTTHUMG00000090463	ENST00000256496.3:c.395G>C	3.37:g.5215724G>C	ENSP00000256496:p.Arg132Thr					ARL8B_uc011asx.1_Missense_Mutation_p.R123T|ARL8B_uc011asy.1_Intron	p.R132T	NM_018184	NP_060654	Q9NVJ2	ARL8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)	5	616	+			132			GTP.		B4DI85	Missense_Mutation	SNP	ENST00000256496.3	37	c.395G>C	CCDS2566.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906867	0.33628	.	.	ENSG00000134108	ENST00000256496;ENST00000438743	T	0.62788	-0.0	5.24	5.24	0.73138	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	N	0.16066	0.365	0.80722	D	1	B;B	0.31730	0.107;0.337	B;B	0.35073	0.061;0.195	T	0.57728	-0.7761	10	0.87932	D	0	-24.3322	19.1982	0.93698	0.0:0.0:1.0:0.0	.	123;132	B4DQT8;Q9NVJ2	.;ARL8B_HUMAN	T	132;184	ENSP00000256496:R132T	ENSP00000256496:R132T	R	+	2	0	ARL8B	5190724	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.716000	0.84723	2.613000	0.88420	0.650000	0.86243	AGA		0.313	ARL8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206910.2	NM_018184		17	177	0	0	0	0	17	177				
NR1D2	9975	broad.mit.edu	37	3	24018766	24018766	+	Silent	SNP	C	C	T	rs138945807	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:24018766C>T	ENST00000312521.4	+	8	1915	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	532	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AGGAAACTCTCATTCGTGCAC	0.368																																						uc003ccs.2		NA																	0				urinary_tract(1)|kidney(1)|skin(1)	3						c.(1594-1596)CTC>CTT		nuclear receptor subfamily 1, group D, member 2							70.0	74.0	73.0					3																	24018766		2203	4300	6503	SO:0001819	synonymous_variant	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24018766C>T	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1596C>T	3.37:g.24018766C>T						NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Silent_p.L457L	p.L532L	NM_005126	NP_005117	Q14995	NR1D2_HUMAN			8	1915	+			532					B2R8Q3|O00402|Q86XD4	Silent	SNP	ENST00000312521.4	37	c.1596C>T	CCDS33718.1																																																																																				0.368	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3			5	32	0	0	0	0	5	32				
UQCRC1	7384	broad.mit.edu	37	3	48641703	48641703	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:48641703G>C	ENST00000203407.5	-	5	1005	c.589C>G	c.(589-591)Cta>Gta	p.L197V		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	197					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTGGGCTAGAGGTGTGCCC	0.572																																					NSCLC(81;1112 1427 27031 32409 45529)	uc003cub.1		NA																	0					0						c.(589-591)CTA>GTA		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						140.0	121.0	128.0					3																	48641703		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48641703G>C	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.589C>G	3.37:g.48641703G>C	ENSP00000203407:p.Leu197Val					UQCRC1_uc003cua.1_Missense_Mutation_p.L82V|UQCRC1_uc003cuc.1_Missense_Mutation_p.L197V|UQCRC1_uc003cud.1_Missense_Mutation_p.L197V	p.L197V	NM_003365	NP_003356	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	634	-			197					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.589C>G	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689956	0.68271	.	.	ENSG00000010256	ENST00000203407	T	0.49720	0.77	5.83	4.96	0.65561	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.996	T	0.81223	-0.1030	10	0.87932	D	0	-11.1034	11.9188	0.52781	0.1389:0.0:0.8611:0.0	.	82;197	B4DUL5;P31930	.;QCR1_HUMAN	V	197	ENSP00000203407:L197V	ENSP00000203407:L197V	L	-	1	2	UQCRC1	48616707	1.000000	0.71417	0.324000	0.25361	0.726000	0.41606	3.456000	0.53000	1.481000	0.48307	0.561000	0.74099	CTA		0.572	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		5	93	0	0	0	0	5	93				
QTRTD1	79691	broad.mit.edu	37	3	113798870	113798870	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:113798870C>A	ENST00000493014.1	+	4	614	c.546C>A	c.(544-546)ttC>ttA	p.F182L	QTRTD1_ENST00000281273.4_Missense_Mutation_p.F288L|QTRTD1_ENST00000485050.1_Missense_Mutation_p.F300L|QTRTD1_ENST00000479882.1_Missense_Mutation_p.F165L	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CCCTGACTTTCAGTTTTGATT	0.413																																						uc003eay.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(862-864)TTC>TTA		queuine tRNA-ribosyltransferase domain							177.0	176.0	176.0					3																	113798870		2203	4300	6503	SO:0001583	missense	79691				queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr3:113798870C>A	AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.546C>A	3.37:g.113798870C>A	ENSP00000419169:p.Phe182Leu					QTRTD1_uc003eaz.2_Missense_Mutation_p.F300L|QTRTD1_uc011biq.1_Missense_Mutation_p.F165L|QTRTD1_uc011bir.1_Missense_Mutation_p.F182L	p.F288L	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN			8	1094	+			288						Missense_Mutation	SNP	ENST00000493014.1	37	c.864C>A	CCDS58845.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782328	0.90282	.	.	ENSG00000151576	ENST00000485050;ENST00000281273;ENST00000479882;ENST00000493014	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.77343	0.4116	M	0.68317	2.08	0.58432	D	0.999999	D;D	0.89917	1.0;0.988	D;D	0.76071	0.987;0.944	T	0.78548	-0.2162	9	0.72032	D	0.01	-12.7262	15.2448	0.73499	0.0:0.9311:0.0:0.0689	.	182;288	B7Z472;Q9H974	.;QTRD1_HUMAN	L	300;288;165;182	.	ENSP00000281273:F288L	F	+	3	2	QTRTD1	115281560	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.919000	0.48836	2.755000	0.94549	0.650000	0.86243	TTC		0.413	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000354711.1	NM_024638		32	194	1	0	6.71e-13	7.69e-13	32	194				
NEK11	79858	broad.mit.edu	37	3	131068603	131068603	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:131068603C>T	ENST00000510769.1	+	14	1859	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	RP11-933H2.4_ENST00000502521.1_RNA|NEK11_ENST00000429253.2_Missense_Mutation_p.L641F|NEK11_ENST00000383366.4_Missense_Mutation_p.L641F|NEK11_ENST00000510688.1_3'UTR|NEK11_ENST00000508196.1_Missense_Mutation_p.L641F|NEK11_ENST00000412440.2_Missense_Mutation_p.L457F|RP11-933H2.4_ENST00000513905.1_RNA					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGAACCTACTCTCCAGAACCA	0.403																																						uc003eny.2		NA																	0				large_intestine(4)|stomach(1)|central_nervous_system(1)	6						c.(1921-1923)CTC>TTC		NIMA-related kinase 11 isoform 1							71.0	70.0	70.0					3																	131068603		2203	4300	6503	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:131068603C>T	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1606C>T	3.37:g.131068603C>T	ENSP00000421549:p.Leu536Phe					uc003eoc.1_Intron|NEK11_uc003eoa.2_3'UTR|NEK11_uc003enz.2_Missense_Mutation_p.L459F|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Missense_Mutation_p.L457F|NEK11_uc011bll.1_Missense_Mutation_p.L536F	p.L641F	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN			18	2247	+			641						Missense_Mutation	SNP	ENST00000510769.1	37	c.1921C>T		.	.	.	.	.	.	.	.	.	.	C	15.24	2.774343	0.49786	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000383366;ENST00000412440;ENST00000508196	T;T;T;T;T	0.77358	-1.09;-0.86;-0.86;-1.06;-0.86	5.65	0.183	0.15082	.	1.324840	0.05727	N	0.598923	T	0.62392	0.2424	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.001	T	0.49943	-0.8885	10	0.56958	D	0.05	.	2.8884	0.05668	0.123:0.5397:0.1195:0.2178	.	536;457;641	E9PHI8;B4DDN2;Q8NG66	.;.;NEK11_HUMAN	F	536;641;641;457;641	ENSP00000421549:L536F;ENSP00000397180:L641F;ENSP00000372857:L641F;ENSP00000411888:L457F;ENSP00000421851:L641F	ENSP00000372857:L641F	L	+	1	0	NEK11	132551293	0.000000	0.05858	0.000000	0.03702	0.450000	0.32258	0.114000	0.15520	0.011000	0.14865	0.561000	0.74099	CTC		0.403	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		5	78	0	0	0	0	5	78				
ZBTB38	253461	broad.mit.edu	37	3	141163374	141163374	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:141163374C>T	ENST00000514251.1	+	4	2423	c.2144C>T	c.(2143-2145)tCg>tTg	p.S715L	ZBTB38_ENST00000321464.5_Missense_Mutation_p.S716L|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S715L					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TCTGCACCCTCGGTCATTGTA	0.522																																						uc003etw.2		NA																	0				ovary(3)	3						c.(2143-2145)TCG>TTG		zinc finger and BTB domain containing 38							75.0	77.0	76.0					3																	141163374		2069	4203	6272	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163374C>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2144C>T	3.37:g.141163374C>T	ENSP00000426387:p.Ser715Leu					ZBTB38_uc010hun.2_Missense_Mutation_p.S712L|ZBTB38_uc010huo.2_Missense_Mutation_p.S715L|ZBTB38_uc003ety.2_Missense_Mutation_p.S715L|ZBTB38_uc010hup.2_Missense_Mutation_p.S716L	p.S715L	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	3126	+			715						Missense_Mutation	SNP	ENST00000514251.1	37	c.2144C>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260662	0.95368	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.20598	2.6;2.07;2.07;2.06	5.55	5.55	0.83447	.	0.181621	0.39615	N	0.001318	T	0.46425	0.1392	M	0.63843	1.955	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.19224	-1.0312	9	.	.	.	-14.2599	19.505	0.95111	0.0:1.0:0.0:0.0	.	716;715	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	L	715;715;715;716	ENSP00000424254:S715L;ENSP00000426387:S715L;ENSP00000406955:S715L;ENSP00000372635:S716L	.	S	+	2	0	ZBTB38	142646064	1.000000	0.71417	0.956000	0.39512	0.943000	0.58893	7.395000	0.79876	2.603000	0.88011	0.650000	0.86243	TCG		0.522	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			19	128	0	0	0	0	19	128				
SI	6476	broad.mit.edu	37	3	164754187	164754187	+	Silent	SNP	T	T	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:164754187T>C	ENST00000264382.3	-	22	2567	c.2505A>G	c.(2503-2505)ggA>ggG	p.G835G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	835	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTTTAGTTTCTCCATCATCCC	0.343										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2503-2505)GGA>GGG		sucrase-isomaltase	Acarbose(DB00284)						113.0	116.0	115.0					3																	164754187		2203	4299	6502	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.chr3:164754187T>C	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.2505A>G	3.37:g.164754187T>C		HNSCC(35;0.089)					p.G835G	NM_001041	NP_001032	P14410	SUIS_HUMAN			22	2567	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	835			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.2505A>G	CCDS3196.1																																																																																				0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		4	74	0	0	0	0	4	74				
PLD1	5337	broad.mit.edu	37	3	171404477	171404477	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:171404477G>A	ENST00000351298.4	-	16	1991	c.1865C>T	c.(1864-1866)gCt>gTt	p.A622V	PLD1_ENST00000340989.4_Missense_Mutation_p.A622V|PLD1_ENST00000356327.5_Intron|PLD1_ENST00000342215.6_Intron	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	622	Catalytic.		A -> S (in dbSNP:rs2290480).		chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTACTTACCAGCATGAGGTCT	0.443																																					NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	0				ovary(2)|lung(1)	3						c.(1864-1866)GCT>GTT		phospholipase D1 isoform a	Choline(DB00122)						131.0	135.0	134.0					3																	171404477		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171404477G>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1865C>T	3.37:g.171404477G>A	ENSP00000342793:p.Ala622Val					PLD1_uc003fht.2_Intron	p.A622V	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		16	1981	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		622			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.1865C>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.397077	0.25205	.	.	ENSG00000075651	ENST00000351298;ENST00000340989	T;T	0.06608	3.43;3.28	5.46	-10.9	0.00192	.	3.181240	0.00582	N	0.000327	T	0.03136	0.0092	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32455	-0.9906	10	0.18710	T	0.47	-16.2411	4.3545	0.11172	0.1169:0.0903:0.3926:0.4002	.	622	Q13393	PLD1_HUMAN	V	622	ENSP00000342793:A622V;ENSP00000340326:A622V	ENSP00000340326:A622V	A	-	2	0	PLD1	172887171	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.866000	0.01647	-2.203000	0.00744	-0.262000	0.10625	GCT		0.443	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		17	225	0	0	0	0	17	225				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			6	66	0	0	0	0	6	66				
ATP13A4	84239	broad.mit.edu	37	3	193175211	193175211	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:193175211G>A	ENST00000342695.4	-	15	2040	c.1718C>T	c.(1717-1719)cCg>cTg	p.P573L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.P554L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	573						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGCATGTGCCGGCACTCCCTT	0.458																																						uc003ftd.2		NA																	0				ovary(2)	2						c.(1717-1719)CCG>CTG		ATPase type 13A4							173.0	171.0	172.0					3																	193175211		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193175211G>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1718C>T	3.37:g.193175211G>A	ENSP00000339182:p.Pro573Leu					ATP13A4_uc003fte.1_Missense_Mutation_p.P573L|ATP13A4_uc011bsr.1_Missense_Mutation_p.P44L|ATP13A4_uc010hzi.2_RNA	p.P573L	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	15	1826	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		573			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.1718C>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591176	0.28357	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	D;D	0.86627	-1.88;-2.15	5.03	4.15	0.48705	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.295841	0.29587	N	0.011729	T	0.66655	0.2811	N	0.01800	-0.715	0.80722	D	1	B;B;B	0.19073	0.008;0.003;0.033	B;B;B	0.15484	0.009;0.005;0.013	T	0.59878	-0.7371	10	0.21540	T	0.41	-22.0958	8.9035	0.35510	0.1058:0.0:0.8942:0.0	.	554;573;573	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	L	554;573	ENSP00000376238:P554L;ENSP00000339182:P573L	ENSP00000339182:P573L	P	-	2	0	ATP13A4	194657905	0.774000	0.28592	0.794000	0.32065	0.608000	0.37181	2.473000	0.45145	1.223000	0.43536	0.655000	0.94253	CCG		0.458	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		13	185	0	0	0	0	13	185				
TNK2	10188	broad.mit.edu	37	3	195608990	195608990	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr3:195608990C>T	ENST00000333602.6	-	6	1436	c.819G>A	c.(817-819)ctG>ctA	p.L273L	TNK2_ENST00000468819.1_Intron|TNK2_ENST00000428187.1_Silent_p.L305L|TNK2_ENST00000316664.3_Silent_p.L273L|TNK2_ENST00000392400.1_Silent_p.L273L|TNK2_ENST00000381916.2_Silent_p.L336L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTGCTCGCATCAGCCCAAAGT	0.592																																						uc003fvu.1		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10						c.(817-819)CTG>CTA		tyrosine kinase, non-receptor, 2 isoform 1	Adenosine triphosphate(DB00171)						137.0	100.0	112.0					3																	195608990		2203	4300	6503	SO:0001819	synonymous_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195608990C>T	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.819G>A	3.37:g.195608990C>T						TNK2_uc003fvs.1_Silent_p.L305L|TNK2_uc003fvt.1_Silent_p.L336L|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_Silent_p.L103L|TNK2_uc010hzx.1_Intron	p.L273L	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	6	1362	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	273			Protein kinase.		Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	ENST00000333602.6	37	c.819G>A	CCDS33928.1																																																																																				0.592	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781		14	110	0	0	0	0	14	110				
ALB	213	broad.mit.edu	37	4	74274401	74274401	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr4:74274401G>C	ENST00000295897.4	+	4	450	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.E121Q|ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Intron	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACAAGAACCTGAGAGAAATGA	0.433																																						uc003hgs.3		NA																	0				ovary(3)|skin(3)	6						c.(361-363)GAG>CAG		albumin preproprotein	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						93.0	87.0	89.0					4																	74274401		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74274401G>C	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.361G>C	4.37:g.74274401G>C	ENSP00000295897:p.Glu121Gln					ALB_uc003hgw.3_Intron|ALB_uc011cbe.1_Intron|ALB_uc003hgt.3_Missense_Mutation_p.E121Q|ALB_uc010iii.2_Intron|ALB_uc003hgu.3_Intron|ALB_uc003hgv.3_Intron|ALB_uc011cbf.1_Missense_Mutation_p.E11Q|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_5'Flank	p.E121Q	NM_000477	NP_000468	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		4	434	+	Breast(15;0.00102)		121		E -> G.	Albumin 1.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000295897.4	37	c.361G>C	CCDS3555.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182931	0.78677	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000329326;ENST00000509063;ENST00000430202	T;T;T	0.77358	-1.09;-1.09;-1.09	6.04	6.04	0.98038	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.185717	0.44902	D	0.000414	D	0.88303	0.6400	M	0.74467	2.265	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.72075	0.976;0.947	D	0.88299	0.2948	10	0.72032	D	0.01	-16.1675	19.1586	0.93522	0.0:0.0:1.0:0.0	.	121;121	A6NBZ8;P02768	.;ALBU_HUMAN	Q	123;121;121;121;130	ENSP00000392541:E123Q;ENSP00000295897:E121Q;ENSP00000422784:E121Q	ENSP00000295897:E121Q	E	+	1	0	ALB	74493265	1.000000	0.71417	0.824000	0.32777	0.590000	0.36582	6.045000	0.71020	2.873000	0.98535	0.563000	0.77884	GAG		0.433	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477		7	44	0	0	0	0	7	44				
GPRIN3	285513	broad.mit.edu	37	4	90171030	90171030	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr4:90171030T>C	ENST00000609438.1	-	2	750	c.232A>G	c.(232-234)Atg>Gtg	p.M78V	GPRIN3_ENST00000333209.4_Missense_Mutation_p.M78V	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	78										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGAGAAGACATATCTGGTTGG	0.582																																						uc003hsm.1		NA																	0				ovary(3)	3						c.(232-234)ATG>GTG		G protein-regulated inducer of neurite outgrowth							85.0	88.0	87.0					4																	90171030		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90171030T>C	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.232A>G	4.37:g.90171030T>C	ENSP00000476603:p.Met78Val						p.M78V	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	751	-		Hepatocellular(203;0.114)	78					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.232A>G	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	T	7.626	0.677888	0.14841	.	.	ENSG00000185477	ENST00000333209	T	0.12361	2.69	5.28	4.07	0.47477	.	0.000000	0.41097	D	0.000947	T	0.12220	0.0297	L	0.29908	0.895	0.28307	N	0.922862	D	0.54207	0.965	P	0.47402	0.546	T	0.06427	-1.0827	10	0.35671	T	0.21	-8.5347	7.5791	0.27955	0.0:0.0753:0.1438:0.7809	.	78	Q6ZVF9	GRIN3_HUMAN	V	78	ENSP00000328672:M78V	ENSP00000328672:M78V	M	-	1	0	GPRIN3	90390053	0.996000	0.38824	0.608000	0.28969	0.009000	0.06853	1.799000	0.38824	0.980000	0.38523	0.528000	0.53228	ATG		0.582	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		26	63	0	0	0	0	26	63				
ZNF827	152485	broad.mit.edu	37	4	146824152	146824152	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr4:146824152C>T	ENST00000508784.1	-	2	486	c.259G>A	c.(259-261)Gac>Aac	p.D87N	ZNF827_ENST00000379448.4_Missense_Mutation_p.D87N|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	87					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(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACCTCACTGTCCAGTGCCACC	0.602																																						uc003ikn.2		NA																	0					0						c.(259-261)GAC>AAC		zinc finger protein 827							72.0	63.0	66.0					4																	146824152		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146824152C>T	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.259G>A	4.37:g.146824152C>T	ENSP00000421863:p.Asp87Asn					ZNF827_uc003ikm.2_Missense_Mutation_p.D87N|ZNF827_uc010iox.2_Intron	p.D87N	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			2	307	-	all_hematologic(180;0.151)		87					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.259G>A		.	.	.	.	.	.	.	.	.	.	C	12.62	1.991862	0.35131	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.10573	2.86;2.9	5.93	5.09	0.68999	.	0.086220	0.85682	D	0.000000	T	0.09335	0.0230	N	0.19112	0.55	0.49299	D	0.999778	B;B	0.10296	0.001;0.003	B;B	0.13407	0.004;0.009	T	0.08848	-1.0702	10	0.72032	D	0.01	-26.0842	15.1601	0.72778	0.0:0.9325:0.0:0.0675	.	87;87	Q17R98;Q17R98-2	ZN827_HUMAN;.	N	87;87;86	ENSP00000421863:D87N;ENSP00000368761:D87N	ENSP00000281318:D86N	D	-	1	0	ZNF827	147043602	1.000000	0.71417	0.051000	0.19133	0.328000	0.28507	7.416000	0.80143	1.524000	0.49035	-0.258000	0.10820	GAC		0.602	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		8	27	0	0	0	0	8	27				
PRKAA1	5562	broad.mit.edu	37	5	40798216	40798216	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr5:40798216G>T	ENST00000397128.2	-	1	84	c.76C>A	c.(76-78)Cac>Aac	p.H26N	PRKAA1_ENST00000296800.4_Missense_Mutation_p.H17N|PRKAA1_ENST00000354209.3_Missense_Mutation_p.H26N	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	26					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AGAATGTAGTGGCCGATCTTC	0.652																																						uc003jmc.2		NA																	0				breast(1)	1						c.(76-78)CAC>AAC		protein kinase, AMP-activated, alpha 1 catalytic	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)						57.0	75.0	69.0					5																	40798216		2201	4300	6501	SO:0001583	missense	5562				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	g.chr5:40798216G>T		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.76C>A	5.37:g.40798216G>T	ENSP00000380317:p.His26Asn					PRKAA1_uc003jmb.2_Missense_Mutation_p.H26N	p.H26N	NM_006251	NP_006242	Q13131	AAPK1_HUMAN			1	82	-			26					A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	ENST00000397128.2	37	c.76C>A	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	G	9.203	1.029015	0.19512	.	.	ENSG00000132356	ENST00000397128;ENST00000354209;ENST00000296800	T;T;T	0.21734	1.99;1.99;1.99	4.07	4.07	0.47477	Protein kinase-like domain (1);	0.051554	0.85682	D	0.000000	T	0.10078	0.0247	N	0.03209	-0.39	0.80722	D	1	B;B	0.31548	0.115;0.328	B;B	0.36092	0.114;0.217	T	0.09729	-1.0661	10	0.02654	T	1	-6.4801	16.3732	0.83371	0.0:0.0:1.0:0.0	.	26;26	Q13131;Q13131-2	AAPK1_HUMAN;.	N	26;26;17	ENSP00000380317:H26N;ENSP00000346148:H26N;ENSP00000296800:H17N	ENSP00000296800:H17N	H	-	1	0	AC008810.1	40833973	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.877000	0.87225	2.250000	0.74265	0.205000	0.17691	CAC		0.652	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251		5	32	1	0	2.01e-06	2.28e-06	5	32				
IRF1	3659	broad.mit.edu	37	5	131822224	131822224	+	Intron	SNP	T	T	C	rs9282761	byFrequency	TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr5:131822224T>C	ENST00000245414.4	-	6	803				IRF1_ENST00000405885.2_Intron|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CTGTGGGGTCTCCTGCCAGAC	0.612													C|||	2036	0.40655	0.4758	0.3588	5008	,	,		21354	0.3829		0.3449	False		,,,				2504	0.4346					uc010jds.1		NA																	0					0						c.(385-387)TCC>CCC		Homo sapiens full length insert cDNA clone ZA99C08.		C	,	2163,2243	579.6+/-385.0	521,1121,561	46.0	46.0	46.0		,	-0.9	0.0	5	dbSNP_118	46	2822,5778	667.9+/-402.5	459,1904,1937	no	utr-3,intron	IRF1,C5orf56	NM_001207002.1,NM_002198.2	,	980,3025,2498	CC,CT,TT		32.814,49.0921,38.3285	,	,	131822224	4985,8021	2203	4300	6503	SO:0001627	intron_variant	441108							g.chr5:131822224T>C		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.544+24A>G	5.37:g.131822224T>C						IRF1_uc003kxd.2_Intron|IRF1_uc003kxa.2_Intron|IRF1_uc003kxb.2_Intron|IRF1_uc010jdt.1_Intron	p.S129P			Q8N8D9	CE056_HUMAN			4	560	+			Error:Variant_position_missing_in_Q8N8D9_after_alignment					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.385T>C	CCDS4155.1																																																																																				0.612	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		3	17	0	0	0	0	3	17				
PCDHGC3	5098	broad.mit.edu	37	5	140855927	140855927	+	Missense_Mutation	SNP	G	G	C	rs370299433		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr5:140855927G>C	ENST00000308177.3	+	1	348	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	82	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAACCGGGAGACCGGAGA	0.572																																						uc003lkv.1		NA																	0				ovary(1)|skin(1)	2						c.(244-246)GAG>CAG		protocadherin gamma subfamily C, 3 isoform 1							137.0	141.0	140.0					5																	140855927		2203	4300	6503	SO:0001583	missense	5098				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140855927G>C	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.244G>C	5.37:g.140855927G>C	ENSP00000312070:p.Glu82Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.E82Q|PCDHGC3_uc003lkw.1_Intron	p.E82Q	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	359	+			82			Cadherin 1.|Extracellular (Potential).		O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.244G>C	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707342	0.30322	.	.	ENSG00000240184	ENST00000308177	T	0.28255	1.62	5.54	4.67	0.58626	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22399	0.0540	L	0.28115	0.83	0.27051	N	0.963785	B;P	0.35272	0.193;0.493	B;B	0.33890	0.172;0.165	T	0.10405	-1.0631	9	0.41790	T	0.15	.	11.0148	0.47682	0.1931:0.0:0.8069:0.0	.	82;82	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	Q	82	ENSP00000312070:E82Q	ENSP00000312070:E82Q	E	+	1	0	PCDHGC3	140836111	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	2.644000	0.46613	1.577000	0.49804	0.655000	0.94253	GAG		0.572	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		7	120	0	0	0	0	7	120				
LY6G5C	80741	broad.mit.edu	37	6	31646945	31646945	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:31646945G>A	ENST00000383237.4	-	2	225	c.222C>T	c.(220-222)tgC>tgT	p.C74C	LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000375858.3_Silent_p.C71C|LY6G5C_ENST00000375860.2_Silent_p.C72C			Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	74	UPAR/Ly6.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						ATCCCAGAAGGCACCCTAACT	0.542																																						uc003nvu.1		NA																	0					0						c.(211-213)TGC>TGT		lymphocyte antigen 6 complex G5C							244.0	220.0	229.0					6																	31646945		1511	2709	4220	SO:0001819	synonymous_variant	80741					extracellular region		g.chr6:31646945G>A		CCDS34401.1, CCDS34401.2	6p21	2010-02-17	2002-07-29	2002-08-01	ENSG00000204428	ENSG00000204428			13932	protein-coding gene	gene with protein product		610434	"""chromosome 6 open reading frame 20"""	C6orf20		12079290	Standard	NM_025262		Approved	G5c, NG33	uc003nvu.2	Q5SRR4	OTTHUMG00000031228	ENST00000383237.4:c.222C>T	6.37:g.31646945G>A						LY6G5C_uc003nvw.1_RNA|LY6G5C_uc010jtb.1_RNA	p.C71C	NM_025262	NP_079538	Q5SRR4	LY65C_HUMAN			2	213	-			74			UPAR/Ly6.		A6NCW4|B0UXB3|B0UXB4|B0UZ69|B0UZQ0|B1B0L9|O95871|Q5SQ59|Q8NDY0|Q8NDY1	Silent	SNP	ENST00000383237.4	37	c.213C>T	CCDS34401.2	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125031	0.20959	.	.	ENSG00000204428	ENST00000375863	.	.	.	3.46	0.644	0.17776	.	.	.	.	.	T	0.34978	0.0916	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20405	-1.0276	4	.	.	.	-16.4386	4.8404	0.13487	0.4843:0.0:0.5157:0.0	.	.	.	.	V	149	.	.	A	-	2	0	LY6G5C	31754924	1.000000	0.71417	0.987000	0.45799	0.932000	0.56968	1.012000	0.29924	0.226000	0.20979	0.462000	0.41574	GCC		0.542	LY6G5C-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076473.4			35	136	0	0	0	0	35	136				
ABHD16A	7920	broad.mit.edu	37	6	31655463	31655463	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:31655463C>T	ENST00000395952.3	-	18	1664	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	ABHD16A_ENST00000440843.2_Missense_Mutation_p.R468H|ABHD16A_ENST00000375842.4_Missense_Mutation_p.R282H|ABHD16A_ENST00000471644.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	501						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CTGGTAGGAGCGGAGGACAGA	0.597																																						uc003nvy.1		NA																	0					0						c.(1501-1503)CGC>CAC		HLA-B associated transcript 5							47.0	49.0	49.0					6																	31655463		1507	2707	4214	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31655463C>T	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.1502G>A	6.37:g.31655463C>T	ENSP00000379282:p.Arg501His					BAT5_uc003nvx.1_Missense_Mutation_p.R282H|BAT5_uc011dny.1_Missense_Mutation_p.R468H|BAT5_uc003nvz.1_Missense_Mutation_p.R282H|BAT5_uc011dnz.1_Missense_Mutation_p.R282H	p.R501H	NM_021160	NP_066983	O95870	ABHGA_HUMAN			18	1532	-			501					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.1502G>A	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059516	0.55325	.	.	ENSG00000204427	ENST00000395952;ENST00000375842;ENST00000440843	.	.	.	5.66	3.87	0.44632	.	0.061496	0.64402	D	0.000002	T	0.11707	0.0285	L	0.27053	0.805	0.80722	D	1	B;P	0.49783	0.148;0.928	B;B	0.35971	0.004;0.215	T	0.04621	-1.0938	9	0.13108	T	0.6	-11.7789	7.1669	0.25695	0.0:0.7435:0.0:0.2565	.	468;501	B7Z4R6;O95870	.;ABHGA_HUMAN	H	501;282;468	.	ENSP00000365002:R282H	R	-	2	0	ABHD16A	31763442	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.872000	0.48467	1.396000	0.46663	0.555000	0.69702	CGC		0.597	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4			8	43	0	0	0	0	8	43				
TNXB	7148	broad.mit.edu	37	6	32016196	32016196	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:32016196A>T	ENST00000375244.3	-	29	10190	c.9989T>A	c.(9988-9990)cTc>cAc	p.L3330H	TNXB_ENST00000375247.2_Missense_Mutation_p.L3328H|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3375	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGTCCAAAGAGCAGGAACTT	0.701																																						uc003nzl.2		NA																	0					0						c.(9982-9984)CTC>CAC		tenascin XB isoform 1 precursor							26.0	31.0	29.0					6																	32016196		1954	4121	6075	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32016196A>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9989T>A	6.37:g.32016196A>T	ENSP00000364393:p.Leu3330His					TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	p.L3328H	NM_019105	NP_061978	P22105	TENX_HUMAN			29	10185	-			3375			Fibronectin type-III 25.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.9983T>A		.	.	.	.	.	.	.	.	.	.	A	21.8	4.200284	0.79015	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59638	0.25;0.25	4.34	4.34	0.51931	.	0.000000	0.43110	D	0.000607	T	0.75708	0.3886	H	0.94462	3.54	0.21220	N	0.999757	D	0.89917	1.0	D	0.97110	1.0	T	0.71919	-0.4447	10	0.87932	D	0	.	12.6317	0.56661	1.0:0.0:0.0:0.0	.	3328	P22105-3	.	H	3330;3328	ENSP00000364393:L3330H;ENSP00000364396:L3328H	ENSP00000364393:L3330H	L	-	2	0	TNXB	32124174	0.999000	0.42202	0.478000	0.27316	0.955000	0.61496	4.832000	0.62759	1.819000	0.53055	0.402000	0.26972	CTC		0.701	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		6	31	0	0	0	0	6	31				
TNXB	7148	broad.mit.edu	37	6	32017777	32017777	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:32017777G>A	ENST00000375244.3	-	27	9638	c.9437C>T	c.(9436-9438)aCg>aTg	p.T3146M	TNXB_ENST00000375247.2_Missense_Mutation_p.T3144M			P22105	TENX_HUMAN	tenascin XB	3191	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCACTCACCCGTCACCCCAAT	0.602																																						uc003nzl.2		NA																	0					0						c.(9430-9432)ACG>ATG		tenascin XB isoform 1 precursor							62.0	68.0	66.0					6																	32017777		1277	2548	3825	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017777G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9437C>T	6.37:g.32017777G>A	ENSP00000364393:p.Thr3146Met						p.T3144M	NM_019105	NP_061978	P22105	TENX_HUMAN			27	9633	-			3191					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.9431C>T		.	.	.	.	.	.	.	.	.	.	g	18.71	3.683100	0.68157	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.61627	0.09;0.09	3.59	3.59	0.41128	.	0.000000	0.48767	D	0.000176	T	0.72162	0.3426	M	0.89414	3.03	0.33379	D	0.574664	D	0.89917	1.0	D	0.85130	0.997	T	0.77435	-0.2589	10	0.87932	D	0	.	12.2757	0.54733	0.0:0.0:1.0:0.0	.	3144	P22105-3	.	M	3146;3144	ENSP00000364393:T3146M;ENSP00000364396:T3144M	ENSP00000364393:T3146M	T	-	2	0	TNXB	32125755	1.000000	0.71417	0.872000	0.34217	0.101000	0.19017	5.040000	0.64191	1.832000	0.53329	0.456000	0.33151	ACG		0.602	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		8	83	0	0	0	0	8	83				
LAMA4	3910	broad.mit.edu	37	6	112510392	112510392	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:112510392C>T	ENST00000230538.7	-	7	1131	c.734G>A	c.(733-735)gGa>gAa	p.G245E	LAMA4_ENST00000389463.4_Missense_Mutation_p.G245E|LAMA4_ENST00000424408.2_Missense_Mutation_p.G245E|LAMA4_ENST00000524032.1_5'Flank|LAMA4_ENST00000522006.1_Missense_Mutation_p.G245E	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	245	Laminin EGF-like 4; truncated. {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)		ACATGGGCCTCCCCCGCAGTT	0.428																																						uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(733-735)GGA>GAA		laminin, alpha 4 isoform 1 precursor							90.0	76.0	81.0					6																	112510392		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.chr6:112510392C>T		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.734G>A	6.37:g.112510392C>T	ENSP00000230538:p.Gly245Glu					LAMA4_uc003pvv.2_Missense_Mutation_p.G245E|LAMA4_uc003pvt.2_Missense_Mutation_p.G245E	p.G245E	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)	7	1043	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	245			Laminin EGF-like 4; truncated.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.734G>A	CCDS43491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.333169|4.333169	0.81801|0.81801	.|.	.|.	ENSG00000112769|ENSG00000112769	ENST00000368640|ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588	.|T;T;T;T;T	.|0.32272	.|2.14;2.09;2.09;2.09;1.46	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.115453	.|0.64402	.|D	.|0.000013	T|T	0.15696|0.15696	0.0378|0.0378	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28350	.|0.166;0.208	.|B;B	.|0.25759	.|0.043;0.063	T|T	0.02294|0.02294	-1.1181|-1.1181	5|10	.|0.37606	.|T	.|0.19	.|.	13.0305|13.0305	0.58839|0.58839	0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738	.|.	.|245;245	.|Q16363;Q16363-2	.|LAMA4_HUMAN;.	K|E	49|245	.|ENSP00000230538:G245E;ENSP00000429488:G245E;ENSP00000374114:G245E;ENSP00000416470:G245E;ENSP00000430336:G245E	.|ENSP00000230538:G245E	E|G	-|-	1|2	0|0	LAMA4|LAMA4	112617085|112617085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.869000|4.869000	0.63028|0.63028	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.428	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		5	28	0	0	0	0	5	28				
RGS17	26575	broad.mit.edu	37	6	153365099	153365099	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr6:153365099G>A	ENST00000367225.2	-	1	79	c.55C>T	c.(55-57)Cct>Tct	p.P19S	RGS17_ENST00000206262.1_Missense_Mutation_p.P19S			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	19					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TGGTTTCCAGGAGCTTGAGAC	0.493																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	uc003qpm.2		NA																	0				pancreas(1)	1						c.(55-57)CCT>TCT		regulator of G-protein signalling 17							174.0	173.0	173.0					6																	153365099		2203	4300	6503	SO:0001583	missense	26575	Lung_Cancer_Familial_Clustering_of			negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr6:153365099G>A	AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.55C>T	6.37:g.153365099G>A	ENSP00000356194:p.Pro19Ser						p.P19S	NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)	2	211	-		Ovarian(120;0.126)	19					Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	ENST00000367225.2	37	c.55C>T	CCDS5244.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.552458	0.27739	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.41758	0.99;0.99	5.29	4.41	0.53225	.	1.452860	0.04828	N	0.438197	T	0.30978	0.0782	M	0.63428	1.95	0.80722	D	1	B	0.28439	0.212	B	0.30316	0.114	T	0.14587	-1.0467	10	0.38643	T	0.18	-17.2513	13.7605	0.62963	0.0746:0.0:0.9254:0.0	.	19	Q9UGC6	RGS17_HUMAN	S	19	ENSP00000356194:P19S;ENSP00000206262:P19S	ENSP00000206262:P19S	P	-	1	0	RGS17	153406792	1.000000	0.71417	0.611000	0.29010	0.326000	0.28443	5.529000	0.67135	1.218000	0.43458	0.460000	0.39030	CCT		0.493	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			7	149	0	0	0	0	7	149				
HOXA1	3198	broad.mit.edu	37	7	27135348	27135348	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr7:27135348C>T	ENST00000343060.4	-	1	245	c.184G>A	c.(184-186)Ggt>Agt	p.G62S	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.G62S|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	62					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						tggGGCGAACCGATCTGCACC	0.647											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003sye.2		NA																	0				ovary(3)	3						c.(184-186)GGT>AGT		homeobox A1 isoform a							36.0	39.0	38.0					7																	27135348		2202	4300	6502	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135348C>T		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.184G>A	7.37:g.27135348C>T	ENSP00000343246:p.Gly62Ser		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA1_uc003syd.2_Missense_Mutation_p.G62S|uc003syg.2_5'Flank	p.G62S	NM_005522	NP_005513	P49639	HXA1_HUMAN			1	278	-			62					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.184G>A	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	C	3.912	-0.019791	0.07634	.	.	ENSG00000105991	ENST00000343060;ENST00000355633	D;T	0.89050	-2.46;1.09	5.26	2.77	0.32553	.	0.390879	0.26331	N	0.024999	T	0.73241	0.3562	N	0.17474	0.49	0.24451	N	0.994482	B;B	0.10296	0.0;0.003	B;B	0.12156	0.0;0.007	T	0.56908	-0.7901	10	0.02654	T	1	.	5.6711	0.17723	0.0:0.0948:0.1714:0.7338	.	62;62	P49639;E7ERT8	HXA1_HUMAN;.	S	62	ENSP00000343246:G62S;ENSP00000347851:G62S	ENSP00000343246:G62S	G	-	1	0	HOXA1	27101873	0.965000	0.33210	0.991000	0.47740	0.270000	0.26580	1.006000	0.29847	0.863000	0.35553	0.297000	0.19635	GGT		0.647	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			7	32	0	0	0	0	7	32				
HECW1	23072	broad.mit.edu	37	7	43519316	43519316	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr7:43519316G>A	ENST00000395891.2	+	17	3812	c.3207G>A	c.(3205-3207)caG>caA	p.Q1069Q	HECW1_ENST00000453890.1_Silent_p.Q1035Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1069					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCACCTCCAGAGGCTCCGAA	0.557																																						uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(3205-3207)CAG>CAA		NEDD4-like ubiquitin-protein ligase 1							136.0	131.0	133.0					7																	43519316		1946	4144	6090	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43519316G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3207G>A	7.37:g.43519316G>A						HECW1_uc011kbi.1_Silent_p.Q1035Q	p.Q1069Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			17	3812	+			1069					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.3207G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	8.559	0.877312	0.17395	.	.	ENSG00000002746	ENST00000429529	.	.	.	5.66	2.45	0.29901	.	.	.	.	.	T	0.59348	0.2187	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55082	-0.8196	4	.	.	.	.	10.3726	0.44064	0.295:0.0:0.705:0.0	.	.	.	.	K	22	.	.	R	+	2	0	HECW1	43485841	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	3.584000	0.53936	0.761000	0.33130	0.561000	0.74099	AGA		0.557	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		7	120	0	0	0	0	7	120				
C7orf62	219557	broad.mit.edu	37	7	88423630	88423630	+	Silent	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr7:88423630G>C	ENST00000297203.2	-	2	812	c.627C>G	c.(625-627)ctC>ctG	p.L209L	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	209										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTTGTTCTGGGAGGAGTAGGT	0.413																																						uc003ujv.2		NA																	0					0						c.(625-627)CTC>CTG		hypothetical protein LOC219557							167.0	144.0	152.0					7																	88423630		2203	4300	6503	SO:0001819	synonymous_variant	219557							g.chr7:88423630G>C	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.627C>G	7.37:g.88423630G>C						ZNF804B_uc011khi.1_Intron	p.L209L	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)		2	809	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		209						Silent	SNP	ENST00000297203.2	37	c.627C>G	CCDS34678.1																																																																																				0.413	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		13	73	0	0	0	0	13	73				
SLC26A3	1811	broad.mit.edu	37	7	107432371	107432371	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr7:107432371G>C	ENST00000340010.5	-	4	470	c.286C>G	c.(286-288)Ctg>Gtg	p.L96V	SLC26A3_ENST00000422236.2_Missense_Mutation_p.L61V	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	96					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCGACCAGCAGAGCAAATGCT	0.438																																						uc003ver.2		NA																	0				ovary(3)|skin(1)	4						c.(286-288)CTG>GTG		solute carrier family 26, member 3							106.0	88.0	94.0					7																	107432371		2203	4300	6503	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107432371G>C	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.286C>G	7.37:g.107432371G>C	ENSP00000345873:p.Leu96Val					SLC26A3_uc003ves.2_Missense_Mutation_p.L61V	p.L96V	NM_000111	NP_000102	P40879	S26A3_HUMAN			4	497	-			96			Helical; (Potential).			Missense_Mutation	SNP	ENST00000340010.5	37	c.286C>G	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073797	0.55646	.	.	ENSG00000091138	ENST00000422236;ENST00000340010;ENST00000453332	D;D;D	0.91464	-2.85;-2.85;-2.85	5.56	4.49	0.54785	.	0.000000	0.64402	D	0.000001	D	0.93930	0.8057	M	0.75884	2.315	0.47245	D	0.999365	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93048	0.6463	10	0.49607	T	0.09	.	9.9821	0.41819	0.1544:0.0:0.8456:0.0	.	61;96	G5E9U3;P40879	.;S26A3_HUMAN	V	61;96;96	ENSP00000415817:L61V;ENSP00000345873:L96V;ENSP00000395955:L96V	ENSP00000345873:L96V	L	-	1	2	SLC26A3	107219607	0.997000	0.39634	1.000000	0.80357	0.695000	0.40330	2.080000	0.41586	2.614000	0.88457	0.467000	0.42956	CTG		0.438	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		3	39	0	0	0	0	3	39				
TRPV6	55503	broad.mit.edu	37	7	142569516	142569516	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr7:142569516G>A	ENST00000359396.3	-	15	2367	c.2122C>T	c.(2122-2124)Cgt>Tgt	p.R708C		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	708	Interaction with calmodulin.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATTATCCCACGCAGGTCTCTC	0.567																																						uc003wbx.1		NA																	0				ovary(2)	2						c.(2122-2124)CGT>TGT		transient receptor potential cation channel,							72.0	72.0	72.0					7																	142569516		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142569516G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.2122C>T	7.37:g.142569516G>A	ENSP00000352358:p.Arg708Cys					TRPV6_uc003wbw.1_Missense_Mutation_p.R494C|TRPV6_uc010lou.1_Missense_Mutation_p.R579C	p.R708C	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			15	2338	-	Melanoma(164;0.059)		708			Interaction with calmodulin.|Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.2122C>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369247	0.24771	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.57273	0.41	5.41	-1.3	0.09259	.	1.216240	0.05804	N	0.612710	T	0.47414	0.1444	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47636	-0.9102	10	0.46703	T	0.11	-4.4072	12.767	0.57396	0.0841:0.0:0.7625:0.1534	.	708	Q9H1D0	TRPV6_HUMAN	C	708;540	ENSP00000352358:R708C	ENSP00000310825:R540C	R	-	1	0	TRPV6	142279638	0.000000	0.05858	0.051000	0.19133	0.471000	0.32888	0.158000	0.16422	-0.085000	0.12573	0.561000	0.74099	CGT		0.567	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		8	62	0	0	0	0	8	62				
CHD7	55636	broad.mit.edu	37	8	61764696	61764696	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr8:61764696G>A	ENST00000423902.2	+	29	6263	c.5784G>A	c.(5782-5784)caG>caA	p.Q1928Q	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1928					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAGGCAACAGATGAGGCAAG	0.527																																						uc003xue.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(5782-5784)CAG>CAA		chromodomain helicase DNA binding protein 7							56.0	57.0	57.0					8																	61764696		1898	4097	5995	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61764696G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5784G>A	8.37:g.61764696G>A							p.Q1928Q	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		29	6261	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1928					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.5784G>A	CCDS47865.1																																																																																				0.527	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		7	41	0	0	0	0	7	41				
CHMP4C	92421	broad.mit.edu	37	8	82670413	82670413	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr8:82670413G>A	ENST00000297265.4	+	4	713	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	174	Intramolecular interaction with N- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						ATTGGAACAGGAGGAATTAAA	0.433																																						uc003ycl.2		NA																	0				ovary(2)	2						c.(520-522)GAG>AAG		chromatin modifying protein 4C							110.0	109.0	109.0					8																	82670413		2203	4300	6503	SO:0001583	missense	92421				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr8:82670413G>A	AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"""Charged multivesicular body proteins"""	30599	protein-coding gene	gene with protein product	"""Snf7 homologue associated with Alix 3"""	610899	"""chromatin modifying protein 4C"""			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.520G>A	8.37:g.82670413G>A	ENSP00000297265:p.Glu174Lys						p.E174K	NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN			4	694	+			174			Potential.|Intramolecular interaction with N- terminus (By similarity).		B2RBZ1	Missense_Mutation	SNP	ENST00000297265.4	37	c.520G>A	CCDS6233.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915696	0.92178	.	.	ENSG00000164695	ENST00000297265	T	0.79653	-1.29	6.17	6.17	0.99709	.	0.087981	0.85682	D	0.000000	D	0.92642	0.7662	M	0.93507	3.425	0.80722	D	1	D	0.58620	0.983	D	0.66351	0.943	D	0.92904	0.6342	10	0.62326	D	0.03	-30.3657	20.8794	0.99867	0.0:0.0:1.0:0.0	.	174	Q96CF2	CHM4C_HUMAN	K	174	ENSP00000297265:E174K	ENSP00000297265:E174K	E	+	1	0	CHMP4C	82832968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.577000	0.82486	2.941000	0.99782	0.655000	0.94253	GAG		0.433	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284		4	52	0	0	0	0	4	52				
TRPS1	7227	broad.mit.edu	37	8	116426463	116426463	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr8:116426463C>T	ENST00000220888.5	-	6	3793	c.3634G>A	c.(3634-3636)Gaa>Aaa	p.E1212K	TRPS1_ENST00000395715.3_Missense_Mutation_p.E1225K|TRPS1_ENST00000519076.1_Missense_Mutation_p.E966K|TRPS1_ENST00000520276.1_Missense_Mutation_p.E1216K			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1212	Transcriptional repressor domain. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTTGAAAGTTCATCTTGAGTA	0.418									Langer-Giedion syndrome																													uc003ynz.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(3634-3636)GAA>AAA		zinc finger transcription factor TRPS1							108.0	102.0	104.0					8																	116426463		1990	4168	6158	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116426463C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3634G>A	8.37:g.116426463C>T	ENSP00000220888:p.Glu1212Lys					TRPS1_uc011lhy.1_Missense_Mutation_p.E1216K|TRPS1_uc003yny.2_Missense_Mutation_p.E1225K|TRPS1_uc010mcy.2_Missense_Mutation_p.E1212K	p.E1212K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		6	4093	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1212			Transcriptional repressor domain (By similarity).		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.3634G>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.397749	0.83120	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.48	5.48	0.80851	.	0.106319	0.64402	D	0.000006	T	0.54919	0.1888	L	0.53729	1.69	0.80722	D	1	D;D;D	0.63880	0.993;0.988;0.993	P;P;P	0.60789	0.879;0.76;0.879	T	0.56535	-0.7963	10	0.87932	D	0	.	19.3595	0.94431	0.0:1.0:0.0:0.0	.	1216;1212;1225	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	1225;1212;966;1216	ENSP00000379065:E1225K;ENSP00000220888:E1212K;ENSP00000428910:E966K;ENSP00000428680:E1216K	ENSP00000220888:E1212K	E	-	1	0	TRPS1	116495639	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.590000	0.82653	2.550000	0.86006	0.655000	0.94253	GAA		0.418	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		12	62	0	0	0	0	12	62				
TTC39B	158219	broad.mit.edu	37	9	15214144	15214144	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr9:15214144G>A	ENST00000512701.2	-	4	511	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	TTC39B_ENST00000297615.5_Intron|TTC39B_ENST00000541445.1_Missense_Mutation_p.R93C|TTC39B_ENST00000380850.4_Missense_Mutation_p.R159C|TTC39B_ENST00000507993.1_5'UTR|TTC39B_ENST00000507285.1_5'UTR|TTC39B_ENST00000355694.2_Missense_Mutation_p.R93C|TTC39B_ENST00000582994.1_5'UTR			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	159										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TACCAGGGGCGAAGCAATTCT	0.368																																						uc003zlr.1		NA																	0				ovary(1)	1						c.(277-279)CGC>TGC		tetratricopeptide repeat domain 39B							86.0	88.0	87.0					9																	15214144		2203	4300	6503	SO:0001583	missense	158219						binding	g.chr9:15214144G>A	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.475C>T	9.37:g.15214144G>A	ENSP00000422496:p.Arg159Cys					TTC39B_uc003zlq.1_Missense_Mutation_p.R62C|TTC39B_uc011lmp.1_5'UTR|TTC39B_uc010mie.1_Missense_Mutation_p.R93C|TTC39B_uc011lmq.1_Missense_Mutation_p.R93C|TTC39B_uc011lmr.1_Intron|TTC39B_uc010mif.1_Missense_Mutation_p.R93C|TTC39B_uc003zls.1_5'UTR|TTC39B_uc010mig.1_Missense_Mutation_p.R62C|TTC39B_uc011lms.1_RNA	p.R93C	NM_152574	NP_689787	Q5VTQ0	TT39B_HUMAN			4	398	-			93					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	ENST00000512701.2	37	c.277C>T	CCDS6477.2	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689611	0.68271	.	.	ENSG00000155158	ENST00000380850;ENST00000355694;ENST00000512701;ENST00000541445	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.42	5.42	0.78866	.	0.061321	0.64402	D	0.000011	T	0.69061	0.3069	M	0.75264	2.295	0.58432	D	0.99999	D;D;D;D	0.89917	0.999;1.0;0.997;0.997	D;D;P;P	0.65773	0.932;0.938;0.892;0.892	T	0.71210	-0.4660	10	0.62326	D	0.03	-4.8541	19.1874	0.93649	0.0:0.0:1.0:0.0	.	159;159;93;93	E9PAQ9;E9PE60;A5PLN1;Q5VTQ0	.;.;.;TT39B_HUMAN	C	159;93;159;93	ENSP00000370231:R159C;ENSP00000347920:R93C;ENSP00000422496:R159C;ENSP00000442880:R93C	ENSP00000347920:R93C	R	-	1	0	TTC39B	15204144	1.000000	0.71417	0.993000	0.49108	0.599000	0.36880	4.831000	0.62752	2.689000	0.91719	0.655000	0.94253	CGC		0.368	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		17	43	0	0	0	0	17	43				
CEP78	84131	broad.mit.edu	37	9	80856706	80856706	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr9:80856706G>A	ENST00000424347.2	+	4	883	c.594G>A	c.(592-594)aaG>aaA	p.K198K	CEP78_ENST00000376598.2_Silent_p.K198K|CEP78_ENST00000277082.5_Silent_p.K198K|CEP78_ENST00000415759.2_Silent_p.K198K|CEP78_ENST00000376597.4_Silent_p.K198K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	198					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						ACATGGCCAAGATCTTAAAGG	0.343																																						uc004akx.2		NA																	0				ovary(1)	1						c.(592-594)AAG>AAA		centrosomal protein 78kDa isoform b							110.0	108.0	109.0					9																	80856706		1923	4134	6057	SO:0001819	synonymous_variant	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80856706G>A	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.594G>A	9.37:g.80856706G>A						CEP78_uc004aky.3_Silent_p.K198K|CEP78_uc010mpp.2_Silent_p.K198K|CEP78_uc011lsp.1_Silent_p.K111K	p.K198K	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN			4	870	+			198					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	ENST00000424347.2	37	c.594G>A																																																																																					0.343	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		13	38	0	0	0	0	13	38				
EGFL6	25975	broad.mit.edu	37	X	13645320	13645320	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:13645320G>A	ENST00000361306.1	+	11	1733	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	EGFL6_ENST00000380602.3_Silent_p.E493E	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	492	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGGCATGGGAGAAGACCACGA	0.433																																						uc004cvi.2		NA																	0				breast(2)	2						c.(1474-1476)GAG>GAA		epidermal growth factor-like protein 6							140.0	129.0	133.0					X																	13645320		2203	4300	6503	SO:0001819	synonymous_variant	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13645320G>A	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1476G>A	X.37:g.13645320G>A						EGFL6_uc004cvj.2_Silent_p.E493E	p.E492E	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN			11	1716	+			492			MAM.		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Silent	SNP	ENST00000361306.1	37	c.1476G>A	CCDS14155.1																																																																																				0.433	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		6	58	0	0	0	0	6	58				
ZMYM3	9203	broad.mit.edu	37	X	70470533	70470533	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:70470533G>A	ENST00000353904.2	-	5	1009	c.822C>T	c.(820-822)ccC>ccT	p.P274P	ZMYM3_ENST00000373982.1_Silent_p.P276P|ZMYM3_ENST00000373998.1_Silent_p.P274P|ZMYM3_ENST00000314425.5_Silent_p.P274P|ZMYM3_ENST00000373981.1_Silent_p.P274P|ZMYM3_ENST00000373988.1_Silent_p.P276P|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.P276P|ZMYM3_ENST00000373978.1_Intron	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	274					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCTCATCATTGGGGTCATCTA	0.572																																						uc004dzh.1		NA																	0				ovary(1)	1						c.(820-822)CCC>CCT		zinc finger protein 261							54.0	39.0	44.0					X																	70470533		2202	4298	6500	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70470533G>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.822C>T	X.37:g.70470533G>A						BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.P274P|ZMYM3_uc004dzj.1_Silent_p.P274P|ZMYM3_uc011mpu.1_Silent_p.P5P|ZMYM3_uc004dzk.3_Silent_p.P274P|ZMYM3_uc004dzl.3_Silent_p.P274P|ZMYM3_uc004dzm.3_Silent_p.P274P	p.P274P	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			5	909	-	Renal(35;0.156)		274					D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.822C>T	CCDS14409.1																																																																																				0.572	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		4	3	0	0	0	0	4	3				
PCDH19	57526	broad.mit.edu	37	X	99657583	99657583	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:99657583G>C	ENST00000373034.4	-	3	4230	c.2555C>G	c.(2554-2556)tCt>tGt	p.S852C	PCDH19_ENST00000255531.7_Missense_Mutation_p.S805C|PCDH19_ENST00000420881.2_Missense_Mutation_p.S805C	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	852					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCTGTTGAAAGAGTGATGGTA	0.577																																						uc010nmz.2		NA																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(2554-2556)TCT>TGT		protocadherin 19 isoform b							111.0	104.0	106.0					X																	99657583		2036	4177	6213	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99657583G>C	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2555C>G	X.37:g.99657583G>C	ENSP00000362125:p.Ser852Cys					PCDH19_uc004efw.3_Missense_Mutation_p.S805C|PCDH19_uc004efx.3_Missense_Mutation_p.S805C	p.S852C	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			3	4231	-			852			Cytoplasmic (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.2555C>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	g	23.6	4.435729	0.83885	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.55052	0.57;0.54;0.55	5.64	5.64	0.86602	.	0.163057	0.53938	D	0.000046	T	0.59851	0.2224	L	0.27053	0.805	0.47511	D	0.999448	P;D;D	0.59767	0.906;0.986;0.975	B;P;P	0.61003	0.36;0.882;0.765	T	0.62746	-0.6789	10	0.56958	D	0.05	.	18.7104	0.91655	0.0:0.0:1.0:0.0	.	852;805;805	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	C	805;852;805	ENSP00000400327:S805C;ENSP00000362125:S852C;ENSP00000255531:S805C	ENSP00000255531:S805C	S	-	2	0	PCDH19	99544239	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.223000	0.65283	2.363000	0.80096	0.594000	0.82650	TCT		0.577	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		3	9	0	0	0	0	3	9				
BEX4	56271	broad.mit.edu	37	X	102471381	102471381	+	Silent	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:102471381G>A	ENST00000372695.5	+	3	535	c.300G>A	c.(298-300)agG>agA	p.R100R	BEX4_ENST00000372691.3_Silent_p.R100R	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	100						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						AGCAGATGAGGCACTATATGC	0.418																																						uc004ejv.3		NA																	0				skin(1)	1						c.(298-300)AGG>AGA		BEX family member 4							202.0	173.0	183.0					X																	102471381		2203	4300	6503	SO:0001819	synonymous_variant	56271					cytoplasm|nucleus		g.chrX:102471381G>A	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.300G>A	X.37:g.102471381G>A						BEX4_uc004ejw.3_Silent_p.R100R	p.R100R	NM_001080425	NP_001073894	Q9NWD9	BEX4_HUMAN			3	535	+			100						Silent	SNP	ENST00000372695.5	37	c.300G>A	CCDS35355.1																																																																																				0.418	BEX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057694.1	XM_043653		6	59	0	0	0	0	6	59				
GUCY2F	2986	broad.mit.edu	37	X	108691319	108691319	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:108691319G>C	ENST00000218006.2	-	6	1839	c.1548C>G	c.(1546-1548)atC>atG	p.I516M		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	516					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGTGGGGATTGATAAACGTTA	0.413																																						uc004eod.3		NA																	0				lung(4)|breast(3)|central_nervous_system(1)	8						c.(1546-1548)ATC>ATG		guanylate cyclase 2F precursor							152.0	130.0	137.0					X																	108691319		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108691319G>C	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1548C>G	X.37:g.108691319G>C	ENSP00000218006:p.Ile516Met					GUCY2F_uc011msq.1_RNA	p.I516M	NM_001522	NP_001513	P51841	GUC2F_HUMAN			6	1824	-			516			Cytoplasmic (Potential).		Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.1548C>G	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597026	0.46318	.	.	ENSG00000101890	ENST00000218006	T	0.80123	-1.34	4.38	1.35	0.21983	.	0.050712	0.85682	D	0.000000	D	0.85137	0.5628	M	0.69523	2.12	0.44194	D	0.997014	D	0.76494	0.999	D	0.73380	0.98	T	0.81291	-0.0999	10	0.49607	T	0.09	.	6.2135	0.20642	0.588:0.0:0.412:0.0	.	516	P51841	GUC2F_HUMAN	M	516	ENSP00000218006:I516M	ENSP00000218006:I516M	I	-	3	3	GUCY2F	108577975	1.000000	0.71417	0.998000	0.56505	0.827000	0.46813	0.943000	0.29030	0.147000	0.19030	0.600000	0.82982	ATC		0.413	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		14	24	0	0	0	0	14	24				
PGRMC1	10857	broad.mit.edu	37	X	118370416	118370416	+	Silent	SNP	C	C	T			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:118370416C>T	ENST00000217971.7	+	1	201	c.90C>T	c.(88-90)ctC>ctT	p.L30L	PGRMC1_ENST00000535419.1_Silent_p.L30L	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	30					axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	CGTCGCCGCTCAACCTGCTGC	0.667																																						uc004erb.2		NA																	0					0						c.(88-90)CTC>CTT		progesterone receptor membrane component 1							35.0	25.0	29.0					X																	118370416		2200	4294	6494	SO:0001819	synonymous_variant	10857					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding	g.chrX:118370416C>T		CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.90C>T	X.37:g.118370416C>T						PGRMC1_uc011mts.1_Silent_p.L30L	p.L30L	NM_006667	NP_006658	O00264	PGRC1_HUMAN			1	206	+			30			Helical; (Potential).		B7Z1L3|Q9UGJ9	Silent	SNP	ENST00000217971.7	37	c.90C>T	CCDS14576.1																																																																																				0.667	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058024.1	NM_006667		11	4	0	0	0	0	11	4				
CXorf66	347487	broad.mit.edu	37	X	139038791	139038792	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:139038791_139038792TC>AA	ENST00000370540.1	-	3	372_373	c.349_350GA>TT	c.(349-351)GAc>TTc	p.D117F		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	117	Ser-rich.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AGATGACTTGTCTGCAGTAGAT	0.441																																						uc004fbb.2		NA																	0					0						c.(349-351)GAC>TTC		hypothetical protein LOC347487 precursor																																				SO:0001583	missense	347487					integral to membrane		g.chrX:139038791_139038792TC>AA		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.349_350delinsAA	X.37:g.139038791_139038792delinsAA	ENSP00000359571:p.Asp117Phe						p.D117F	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			3	371_372	-			117			Ser-rich.|Cytoplasmic (Potential).			Missense_Mutation	DNP	ENST00000370540.1	37	c.349_350GA>TT	CCDS35411.1																																																																																				0.441	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		10	60	0	0	0	0	10	60				
SLITRK4	139065	broad.mit.edu	37	X	142716823	142716823	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:142716823C>A	ENST00000381779.4	-	2	2327	c.2102G>T	c.(2101-2103)gGc>gTc	p.G701V	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G701V|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G701V	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	701						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)					CTCTTTCAAGCCACAAGTGTG	0.403																																						uc004fbx.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(2101-2103)GGC>GTC		slit and trk like 4 protein precursor							95.0	94.0	94.0					X																	142716823		2203	4299	6502	SO:0001583	missense	139065					integral to membrane		g.chrX:142716823C>A	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.2102G>T	X.37:g.142716823C>A	ENSP00000371198:p.Gly701Val					SLITRK4_uc004fby.2_Missense_Mutation_p.G701V	p.G701V	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2478	-	Acute lymphoblastic leukemia(192;6.56e-05)		701			Cytoplasmic (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.2102G>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861583	0.51482	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52754	0.65;0.65;0.65	5.49	5.49	0.81192	.	0.070703	0.56097	U	0.000024	T	0.44180	0.1281	L	0.44542	1.39	0.80722	D	1	P	0.43352	0.804	B	0.41571	0.36	T	0.29212	-1.0019	10	0.28530	T	0.3	-5.5823	16.82	0.85743	0.0:1.0:0.0:0.0	.	701	Q8IW52	SLIK4_HUMAN	V	701	ENSP00000371198:G701V;ENSP00000349400:G701V;ENSP00000336627:G701V	ENSP00000336627:G701V	G	-	2	0	SLITRK4	142544489	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.759000	0.68785	2.288000	0.76882	0.600000	0.82982	GGC		0.403	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		22	67	1	0	2.89e-11	3.3e-11	22	67				
PLXNB3	5365	broad.mit.edu	37	X	153043515	153043515	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chrX:153043515G>A	ENST00000361971.5	+	32	5488	c.5374G>A	c.(5374-5376)Gac>Aac	p.D1792N	PLXNB3_ENST00000538966.1_Missense_Mutation_p.D1815N|SRPK3_ENST00000370101.3_5'Flank|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D1445N|PLXNB3_ENST00000485980.1_3'UTR|SRPK3_ENST00000393786.3_5'Flank|SRPK3_ENST00000370108.3_5'Flank|SRPK3_ENST00000370104.1_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1792					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GACCTTCATTGACTCCTGTAC	0.572																																						uc004fii.2		NA																	0				lung(1)	1						c.(5374-5376)GAC>AAC		plexin B3 isoform 1							89.0	70.0	76.0					X																	153043515		2203	4300	6503	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153043515G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5374G>A	X.37:g.153043515G>A	ENSP00000355378:p.Asp1792Asn					PLXNB3_uc010nuk.2_Missense_Mutation_p.D1815N|PLXNB3_uc011mzd.1_Missense_Mutation_p.D1431N|SRPK3_uc004fik.2_5'UTR|SRPK3_uc010nul.2_5'Flank|SRPK3_uc004fin.2_5'Flank|SRPK3_uc004fil.2_5'Flank|SRPK3_uc004fim.2_5'Flank	p.D1792N	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			32	5548	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1792			Cytoplasmic (Potential).		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.5374G>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199741	0.94997	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776	T;T;T	0.26810	1.71;1.71;1.71	5.22	5.22	0.72569	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.72523	-0.4267	10	0.54805	T	0.06	.	16.8097	0.85716	0.0:0.0:1.0:0.0	.	1445;1815;1792	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	N	1815;1792;1445	ENSP00000442736:D1815N;ENSP00000355378:D1792N;ENSP00000445569:D1445N	ENSP00000355378:D1792N	D	+	1	0	PLXNB3	152696709	1.000000	0.71417	0.971000	0.41717	0.676000	0.39594	9.869000	0.99810	2.317000	0.78254	0.529000	0.55759	GAC		0.572	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			13	18	0	0	0	0	13	18				
B2M	567	broad.mit.edu	37	15	45007775	45007775	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr15:45007775delG	ENST00000558401.1	+	2	292	c.222delG	c.(220-222)ttgfs	p.L74fs	B2M_ENST00000559916.1_Frame_Shift_Del_p.L74fs|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Frame_Shift_Del_p.L74fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	74	Ig-like C1-type.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ATTCAGACTTGTCTTTCAGCA	0.418																																						uc001zuc.2		NA																	0				ovary(2)|skin(1)	3						c.(220-222)TTGfs		beta-2-microglobulin precursor							209.0	209.0	209.0					15																	45007775		2198	4298	6496	SO:0001589	frameshift_variant	567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45007775delG	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.222delG	15.37:g.45007775delG	ENSP00000452780:p.Leu74fs					B2M_uc010uek.1_Frame_Shift_Del_p.L74fs|B2M_uc010bdx.1_Intron	p.L74fs	NM_004048	NP_004039	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	2	282	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	74			Ig-like C1-type.		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	ENST00000558401.1	37	c.222delG	CCDS10113.1																																																																																				0.418	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		8	131	NA	NA	NA	NA	8	131	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80790043	80790044	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr17:80790043_80790044delAG	ENST00000269394.3	-	2	1120_1121	c.287_288delCT	c.(286-288)tctfs	p.S96fs	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	96					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTCGAAGGCAGAGAGTCCATT	0.574																																						uc002kga.2		NA																	0				central_nervous_system(1)	1						c.(286-288)TCTfs		zinc finger protein 750																																				SO:0001589	frameshift_variant	79755					intracellular	zinc ion binding	g.chr17:80790043_80790044delAG	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.287_288delCT	17.37:g.80790047_80790048delAG	ENSP00000269394:p.Ser96fs					TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	p.S96fs	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	598_599	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	96					Q9H899	Frame_Shift_Del	DEL	ENST00000269394.3	37	c.287_288delCT	CCDS11819.1																																																																																				0.574	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		11	66	NA	NA	NA	NA	11	66	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37064919	37064929	+	Frame_Shift_Del	DEL	TGCTAATAAGC	TGCTAATAAGC	-			TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr5:37064919_37064929delTGCTAATAAGC	ENST00000282516.8	+	47	8839_8849	c.8340_8350delTGCTAATAAGC	c.(8338-8352)agtgctaataagctgfs	p.ANKL2781fs		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2781					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTCTAACGAGTGCTAATAAGCTGACTAATAA	0.427																																						uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(8338-8352)AGTGCTAATAAGCTGfs		delangin isoform A																																				SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37064919_37064929delTGCTAATAAGC	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8340_8350delTGCTAATAAGC	5.37:g.37064919_37064929delTGCTAATAAGC	ENSP00000282516:p.Ala2781fs					NIPBL_uc003jkk.3_3'UTR|NIPBL_uc003jkn.2_3'UTR	p.S2780fs	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		47	8839_8849	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2780_2784					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	c.8340_8350delTGCTAATAAGC	CCDS3920.1																																																																																				0.427	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		14	62	NA	NA	NA	NA	14	62	---	---	---	---
MAPK15	225689	broad.mit.edu	37	8	144803822	144803823	+	Frame_Shift_Ins	INS	-	-	C	rs202226126		TCGA-CR-7404-01A-11D-2129-08	TCGA-CR-7404-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1c1a8920-9163-4d56-a982-61c4e792cee7	3e2ad549-5764-4780-a8f5-22d2a57c5e8f	g.chr8:144803822_144803823insC	ENST00000338033.4	+	12	1427_1428	c.1308_1309insC	c.(1309-1311)cccfs	p.P437fs	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	437					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGAAGGAAGCGCCCCCCTTGAC	0.644																																						uc003yzj.2		NA																	0				lung(2)	2						c.(1306-1311)GCGCCCfs		mitogen-activated protein kinase 15				0,3654		0,0,1827						1.1	0.0			75	3,7865		0,3,3931	no	frameshift	MAPK15	NM_139021.2		0,3,5758	A1A1,A1R,RR		0.0381,0.0,0.026				3,11519				SO:0001589	frameshift_variant	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144803822_144803823insC	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1314dupC	8.37:g.144803828_144803828dupC	ENSP00000337691:p.Pro437fs						p.A436fs	NM_139021	NP_620590	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		12	1349_1350	+	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)		436_437					Q2TCF9|Q8N362	Frame_Shift_Ins	INS	ENST00000338033.4	37	c.1308_1309insC	CCDS6409.2																																																																																				0.644	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	NM_139021		7	135	NA	NA	NA	NA	7	135	---	---	---	---
