#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
CDK11A	728642	broad.mit.edu	37	1	1636296	1636296	+	Intron	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:1636296C>T	ENST00000378633.1	-	13	1547				CDK11A_ENST00000356200.3_Intron|CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000495016.1_5'Flank|CDK11A_ENST00000358779.5_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000378638.2_Intron			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A						apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GGGGCCCTGTCGGAAAAGCCT	0.607																																					Pancreas(186;965 2119 30274 40311 50569)	uc010nyt.1																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(1504-1506)cGa>cAa		Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA.							111.0	130.0	124.0					1																	1636296		1945	4126	6071	SO:0001627	intron_variant	728642				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1636296C>T	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1467+46G>A	1.37:g.1636296C>T						CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_5'UTR|CDK11B_uc009vkp.3_Intron|CDK11B_uc009vkq.3_Intron|CDK11B_uc009vkr.3_Intron|CDK11B_uc009vks.3_Intron|CDK11B_uc010nys.2_Intron	p.R502Q			P21127	CD11B_HUMAN			12	1613	-			0			Protein kinase.		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.1505G>A																																																																																					0.607	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011	
HES5	388585	broad.mit.edu	37	1	2461382	2461382	+	Silent	SNP	C	C	G			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:2461382C>G	ENST00000378453.3	-	2	203	c.123G>C	c.(121-123)ctG>ctC	p.L41L		NM_001010926.3	NP_001010926.1	Q5TA89	HES5_HUMAN	hes family bHLH transcription factor 5	41	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				astrocyte differentiation (GO:0048708)|auditory receptor cell differentiation (GO:0042491)|auditory receptor cell fate determination (GO:0042668)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cartilage development (GO:0051216)|cell adhesion (GO:0007155)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|comma-shaped body morphogenesis (GO:0072049)|forebrain radial glial cell differentiation (GO:0021861)|glial cell fate commitment (GO:0021781)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of forebrain neuron differentiation (GO:2000978)|negative regulation of inner ear receptor cell differentiation (GO:2000981)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein complex assembly (GO:0006461)|regulation of cell differentiation (GO:0045595)|regulation of myelination (GO:0031641)|regulation of neurogenesis (GO:0050767)|S-shaped body morphogenesis (GO:0072050)|smoothened signaling pathway (GO:0007224)|specification of loop of Henle identity (GO:0072086)|telencephalon development (GO:0021537)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription factor binding (GO:0008134)			lung(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;4.41e-16)|all_lung(118;6.66e-07)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;2.59e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GCTCCAGCAGCAGCTTCAGCT	0.647																																						uc001ajn.3																			0				lung(1)	1						c.(121-123)ctG>ctC		Homo sapiens hairy and enhancer of split 5 (Drosophila) (HES5), mRNA.							22.0	24.0	24.0					1																	2461382		2017	4179	6196	SO:0001819	synonymous_variant	388585				transcription, DNA-dependent	nucleus		g.chr1:2461382C>G	AL139246	CCDS41233.1	1p36	2013-10-17	2013-10-17		ENSG00000197921	ENSG00000197921		"""Basic helix-loop-helix proteins"""	19764	protein-coding gene	gene with protein product		607348	"""hairy and enhancer of split 5 (Drosophila)"""			7836401	Standard	NM_001010926		Approved	bHLHb38	uc001ajn.3	Q5TA89	OTTHUMG00000000793	ENST00000378453.3:c.123G>C	1.37:g.2461382C>G							p.L41L	NM_001010926	NP_001010926	Q5TA89	HES5_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;2.59e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)	1	204	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;4.41e-16)|all_lung(118;6.66e-07)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	41			Helix-loop-helix motif.		B9DI85	Silent	SNP	ENST00000378453.3	37	c.123G>C	CCDS41233.1																																																																																				0.647	HES5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002102.1		
PTPRF	5792	broad.mit.edu	37	1	44085120	44085120	+	Missense_Mutation	SNP	C	C	A	rs373838949		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:44085120C>A	ENST00000359947.4	+	28	5148	c.4808C>A	c.(4807-4809)gCg>gAg	p.A1603E	PTPRF_ENST00000372414.3_Missense_Mutation_p.A1603E|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.A1594E|PTPRF_ENST00000422171.2_Missense_Mutation_p.A962E|PTPRF_ENST00000438120.1_Missense_Mutation_p.A1594E	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1603	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCCATGAGGCGCTGCTGGAG	0.607																																						uc001cjr.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(4807-4809)gCg>gAg		Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.							70.0	66.0	67.0					1																	44085120		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44085120C>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.4808C>A	1.37:g.44085120C>A	ENSP00000353030:p.Ala1603Glu					PTPRF_uc001cjs.3_Missense_Mutation_p.A1594E|PTPRF_uc001cju.3_Missense_Mutation_p.A992E|PTPRF_uc009vwt.3_Missense_Mutation_p.A1163E|PTPRF_uc001cjv.3_Missense_Mutation_p.A1074E|PTPRF_uc001cjw.3_Missense_Mutation_p.A829E	p.A1603E	NM_002840	NP_002831	P10586	PTPRF_HUMAN			27	5148	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1603			Tyrosine-protein phosphatase 1.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.4808C>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.353441|4.353441	0.82243|0.82243	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895	T;T;T;T;T;T|.	0.34859|.	1.34;1.34;1.34;1.34;1.34;1.34|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.000000|.	0.34133|.	N|.	0.004222|.	D|D	0.91676|0.91676	0.7369|0.7369	H|H	0.99507|0.99507	4.6|4.6	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0|.	D;D;D;D;D|.	0.97110|.	0.997;0.998;0.997;0.994;1.0|.	D|D	0.95283|0.95283	0.8388|0.8388	10|5	0.87932|.	D|.	0|.	.|.	18.9146|18.9146	0.92499|0.92499	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1248;962;1180;1594;1603|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	E|S	1603;1594;1603;1594;962;675|1249	ENSP00000353030:A1603E;ENSP00000398822:A1594E;ENSP00000361491:A1603E;ENSP00000361490:A1594E;ENSP00000387885:A962E;ENSP00000361484:A675E|.	ENSP00000353030:A1603E|.	A|R	+|+	2|1	0|0	PTPRF|PTPRF	43857707|43857707	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.960000|0.960000	0.62799|0.62799	6.014000|6.014000	0.70784|0.70784	2.633000|2.633000	0.89246|0.89246	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.607	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
KANK4	163782	broad.mit.edu	37	1	62728946	62728946	+	Missense_Mutation	SNP	C	C	T	rs374086260		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:62728946C>T	ENST00000371153.4	-	7	2735	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000354381.3_Missense_Mutation_p.R158H|KANK4_ENST00000371150.1_Missense_Mutation_p.R142H	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	786				R -> H (in Ref. 1; BAC03774). {ECO:0000305}.		cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGGAGACGCGGAACCACTC	0.562																																						uc001dah.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(2356-2358)cGc>cAc		Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.		C	HIS/ARG	0,4406		0,0,2203	69.0	55.0	60.0		2357	5.3	1.0	1		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	KANK4	NM_181712.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	786/996	62728946	1,13005	2203	4300	6503	SO:0001583	missense	163782							g.chr1:62728946C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2357G>A	1.37:g.62728946C>T	ENSP00000360195:p.Arg786His					KANK4_uc001dai.4_Missense_Mutation_p.R158H|KANK4_uc001daf.4_5'UTR|KANK4_uc001dag.4_Missense_Mutation_p.R142H	p.R786H	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			6	2734	-			786	R -> H (in Ref. 1; BAC03774).				B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.2357G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008210	0.93346	0.0	1.16E-4	ENSG00000132854	ENST00000371153;ENST00000354381;ENST00000371150	T;T;T	0.57752	0.38;0.47;0.48	5.3	5.3	0.74995	.	0.000000	0.35378	N	0.003260	T	0.73273	0.3566	M	0.85777	2.775	0.50313	D	0.999866	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.943	T	0.77281	-0.2646	10	0.72032	D	0.01	-13.7329	13.1198	0.59318	0.0:0.9161:0.0:0.0839	.	158;786	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	H	786;158;142	ENSP00000360195:R786H;ENSP00000346352:R158H;ENSP00000360192:R142H	ENSP00000346352:R158H	R	-	2	0	KANK4	62501534	0.971000	0.33674	0.960000	0.40013	0.984000	0.73092	2.379000	0.44318	2.654000	0.90174	0.561000	0.74099	CGC		0.562	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712	
CSDE1	7812	broad.mit.edu	37	1	115272925	115272925	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:115272925G>C	ENST00000358528.4	-	12	1736	c.1310C>G	c.(1309-1311)aCt>aGt	p.T437S	CSDE1_ENST00000369530.1_Missense_Mutation_p.T452S|CSDE1_ENST00000261443.5_Missense_Mutation_p.T406S|CSDE1_ENST00000534699.1_Missense_Mutation_p.T437S|CSDE1_ENST00000530886.1_Missense_Mutation_p.T307S|CSDE1_ENST00000339438.6_Missense_Mutation_p.T406S|CSDE1_ENST00000438362.2_Missense_Mutation_p.T483S|Y_RNA_ENST00000365030.1_RNA	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	437					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGGAAAAAGTGGCTTCTTT	0.378																																						uc001efi.3																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1447-1449)aCt>aGt		Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.							125.0	132.0	130.0					1																	115272925		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115272925G>C		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1310C>G	1.37:g.115272925G>C	ENSP00000351329:p.Thr437Ser					CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.T437S|CSDE1_uc001efm.3_Missense_Mutation_p.T452S|CSDE1_uc009wgv.3_Missense_Mutation_p.T437S|CSDE1_uc001efl.3_Missense_Mutation_p.T406S|CSDE1_uc001efn.3_Missense_Mutation_p.T406S	p.T483S	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1970	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	437			CSD 6.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.1448C>G	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649343	0.29336	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.85	5.85	0.93711	.	0.246207	0.42053	D	0.000774	T	0.55847	0.1946	L	0.38531	1.155	0.38485	D	0.947812	B;B;D	0.56035	0.278;0.131;0.974	B;B;D	0.67725	0.057;0.026;0.953	T	0.45512	-0.9256	9	0.08837	T	0.75	-7.3357	20.1731	0.98165	0.0:0.0:1.0:0.0	.	452;437;483	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	S	406;483;437;406;307;452;437	.	ENSP00000261443:T406S	T	-	2	0	CSDE1	115074448	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.265000	0.51561	2.768000	0.95171	0.655000	0.94253	ACT		0.378	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	
F11R	50848	broad.mit.edu	37	1	160970003	160970003	+	Missense_Mutation	SNP	G	G	A	rs144844671		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:160970003G>A	ENST00000368026.6	-	5	798	c.524C>T	c.(523-525)aCg>aTg	p.T175M	F11R_ENST00000537746.1_Missense_Mutation_p.T126M|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	175	Ig-like V-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TTTGGGATTCGTAGGCATCAC	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		20917	0.001		0.0	False		,,,				2504	0.0					uc009wtt.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12						c.(523-525)aCg>aTg		Homo sapiens F11 receptor (F11R), mRNA.							150.0	139.0	143.0					1																	160970003		2203	4300	6503	SO:0001583	missense	50848				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		g.chr1:160970003G>A	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.524C>T	1.37:g.160970003G>A	ENSP00000357005:p.Thr175Met					F11R_uc010pjv.2_Missense_Mutation_p.T126M|F11R_uc010pjw.2_Missense_Mutation_p.T179M|F11R_uc001fxf.4_Missense_Mutation_p.T175M	p.T175M	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)		4	794	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		175			Ig-like V-type 2.		B7Z941	Missense_Mutation	SNP	ENST00000368026.6	37	c.524C>T	CCDS1213.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.407	1.079460	0.20227	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.13420	2.59;2.59;2.59	5.16	-5.05	0.02955	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.434430	0.04014	N	0.298614	T	0.02304	0.0071	L	0.28054	0.825	0.09310	N	1	P;P;P;P;P	0.50819	0.939;0.907;0.931;0.931;0.931	B;B;B;B;B	0.41440	0.22;0.313;0.27;0.27;0.357	T	0.23226	-1.0194	10	0.39692	T	0.17	.	0.8353	0.01139	0.3009:0.103:0.2935:0.3026	.	179;126;175;175;175	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	M	175;175;175;126;179	ENSP00000357005:T175M;ENSP00000440812:T126M;ENSP00000394809:T179M	ENSP00000289779:T175M	T	-	2	0	F11R	159236627	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.800000	0.04555	-0.841000	0.04200	0.563000	0.77884	ACG		0.517	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946	
LAMC1	3915	broad.mit.edu	37	1	183101569	183101569	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:183101569G>A	ENST00000258341.4	+	21	3858	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1201	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGTTCGAGTGGCAAAGACAGC	0.388																																						uc001gpy.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(3601-3603)Gca>Aca		Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						133.0	119.0	124.0					1																	183101569		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183101569G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3601G>A	1.37:g.183101569G>A	ENSP00000258341:p.Ala1201Thr						p.A1201T	NM_002293	NP_002284	P11047	LAMC1_HUMAN			20	3858	+			1201			Domain II and I.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.3601G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	35	5.534957	0.96460	.	.	ENSG00000135862	ENST00000258341	T	0.21734	1.99	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54118	-0.8341	10	0.87932	D	0	.	18.8505	0.92227	0.0:0.0:1.0:0.0	.	1201	P11047	LAMC1_HUMAN	T	1201	ENSP00000258341:A1201T	ENSP00000258341:A1201T	A	+	1	0	LAMC1	181368192	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	9.099000	0.94207	2.541000	0.85698	0.655000	0.94253	GCA		0.388	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
ZC3H11A	9877	broad.mit.edu	37	1	203818961	203818961	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:203818961G>A	ENST00000545588.1	+	14	5573	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R	ZC3H11A_ENST00000367214.1_Silent_p.R582R|ZC3H11A_ENST00000332127.4_Silent_p.R582R|ZC3H11A_ENST00000367212.3_Silent_p.R582R|ZC3H11A_ENST00000367210.1_Silent_p.R582R	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	582					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACCTCTTCGGGGAGATGTAG	0.493																																						uc001hac.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1744-1746)cgG>cgA		Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.							100.0	94.0	96.0					1																	203818961		2203	4300	6503	SO:0001819	synonymous_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203818961G>A		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1746G>A	1.37:g.203818961G>A						ZC3H11A_uc001had.3_Silent_p.R582R|ZC3H11A_uc001hae.3_Silent_p.R582R|ZC3H11A_uc001haf.3_Silent_p.R582R|ZC3H11A_uc010pqm.2_Silent_p.R528R|ZC3H11A_uc001hag.1_Silent_p.R582R	p.R582R	NM_014827	NP_055642	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		16	2362	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		582					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Silent	SNP	ENST00000545588.1	37	c.1746G>A	CCDS30978.1																																																																																				0.493	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827	
CEP170	9859	broad.mit.edu	37	1	243362438	243362438	+	Silent	SNP	A	A	G			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:243362438A>G	ENST00000366542.1	-	7	606	c.555T>C	c.(553-555)gaT>gaC	p.D185D	CEP170_ENST00000366543.1_Silent_p.D185D|CEP170_ENST00000366544.1_Silent_p.D185D	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	185						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CCACCTCATCATCCCCCCACC	0.428																																						uc021plo.1																			0				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62						c.(553-555)gaT>gaC		Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.							64.0	58.0	60.0					1																	243362438		1832	4082	5914	SO:0001819	synonymous_variant	9859					centriole|microtubule|spindle		g.chr1:243362438A>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.555T>C	1.37:g.243362438A>G						CEP170_uc021plp.1_Silent_p.D185D|CEP170_uc021plq.1_Silent_p.D185D	p.D185D	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		6	963	-	all_neural(11;0.101)	all_cancers(173;0.003)	185					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Silent	SNP	ENST00000366542.1	37	c.555T>C	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	A	9.454	1.091275	0.20471	.	.	ENSG00000143702	ENST00000336415	.	.	.	5.05	-0.0447	0.13854	.	.	.	.	.	T	0.42630	0.1211	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22836	-1.0205	4	.	.	.	-13.9473	2.447	0.04508	0.5003:0.1139:0.2752:0.1105	.	.	.	.	T	87	.	.	M	-	2	0	CEP170	241429061	0.992000	0.36948	0.968000	0.41197	0.946000	0.59487	0.515000	0.22801	-0.034000	0.13713	-0.566000	0.04163	ATG		0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
ALDH18A1	5832	broad.mit.edu	37	10	97396856	97396856	+	Silent	SNP	A	A	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr10:97396856A>T	ENST00000371224.2	-	5	689	c.552T>A	c.(550-552)gcT>gcA	p.A184A	ALDH18A1_ENST00000371221.3_Silent_p.A184A|ALDH18A1_ENST00000483788.1_5'UTR	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	184	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TCACCTGGGCAGCACAGATGC	0.547																																						uc001kkz.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(550-552)gcT>gcA		Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						53.0	46.0	48.0					10																	97396856		2203	4300	6503	SO:0001819	synonymous_variant	5832				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	g.chr10:97396856A>T	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.552T>A	10.37:g.97396856A>T						ALDH18A1_uc001kky.3_Silent_p.A184A|ALDH18A1_uc010qog.2_Silent_p.A73A|ALDH18A1_uc010qoh.2_Intron	p.A184A	NM_002860	NP_002851	P54886	P5CS_HUMAN		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	4	794	-		Colorectal(252;0.0402)	184			Glutamate 5-kinase.		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	ENST00000371224.2	37	c.552T>A	CCDS7443.1																																																																																				0.547	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860	
ADAM8	101	broad.mit.edu	37	10	135084467	135084467	+	Silent	SNP	G	G	A	rs200740125	byFrequency	TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr10:135084467G>A	ENST00000445355.3	-	14	1532	c.1482C>T	c.(1480-1482)aaC>aaT	p.N494N	ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000485491.2_Silent_p.N455N|ADAM8_ENST00000415217.3_Silent_p.N494N	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	494	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGGGCGTGCCGTTCTCCTGGA	0.667													g|||	3	0.000599042	0.0	0.0014	5008	,	,		18659	0.0		0.002	False		,,,				2504	0.0					uc021qbe.1																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(1480-1482)aaC>aaT		Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.			,,	1,4403	2.1+/-5.4	0,1,2201	43.0	48.0	46.0		1482,1482,1365	-6.9	0.8	10		46	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	ADAM8	NM_001109.4,NM_001164489.1,NM_001164490.1	,,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,,	494/825,494/743,455/734	135084467	1,12995	2202	4296	6498	SO:0001819	synonymous_variant	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135084467G>A	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1482C>T	10.37:g.135084467G>A						ADAM8_uc009ybi.3_Silent_p.N494N|ADAM8_uc010qva.2_Silent_p.N455N	p.N494N	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	13	1568	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	455					B4DVM6|H0YL36|H0YLR0|H0YN39	Silent	SNP	ENST00000445355.3	37	c.1482C>T	CCDS31319.2																																																																																				0.667	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109	
LMNTD2	256329	broad.mit.edu	37	11	558885	558885	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:558885G>A	ENST00000329451.3	-	2	191	c.129C>T	c.(127-129)ccC>ccT	p.P43P	RASSF7_ENST00000431809.1_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000454668.2_5'Flank|RASSF7_ENST00000397583.3_5'Flank|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_5'Flank|RASSF7_ENST00000344375.4_5'Flank	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		43										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)		CCACCGGTGCGGGGTGGGGCG	0.692																																						uc001lpx.3																			0				NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8						c.(127-129)ccC>ccT		Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.							34.0	41.0	39.0					11																	558885		2203	4297	6500	SO:0001819	synonymous_variant	256329							g.chr11:558885G>A																												ENST00000329451.3:c.129C>T	11.37:g.558885G>A						AX748330_uc001lpy.3_Non-coding_Transcript|BC031953_uc001lpz.3_5'Flank|RASSF7_uc001lqb.3_5'Flank|RASSF7_uc001lqc.3_5'Flank|RASSF7_uc001lqd.3_5'Flank	p.P43P	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)	1	192	-		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)	43						Silent	SNP	ENST00000329451.3	37	c.129C>T	CCDS7701.1																																																																																				0.692	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2		
OR51E2	81285	broad.mit.edu	37	11	4703127	4703127	+	Missense_Mutation	SNP	C	C	T	rs138231892		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:4703127C>T	ENST00000396950.3	-	2	1054	c.815G>A	c.(814-816)cGt>cAt	p.R272H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	272					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CATGACAACACGCACAATGGG	0.507																																						uc001lzk.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(814-816)cGt>cAt		Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.		C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	180.0	131.0	148.0		815	1.3	0.6	11	dbSNP_134	148	0,8596		0,0,4298	yes	missense	OR51E2	NM_030774.3	29	0,2,6497	TT,TC,CC		0.0,0.0454,0.0154	benign	272/321	4703127	2,12996	2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703127C>T	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.815G>A	11.37:g.4703127C>T	ENSP00000380153:p.Arg272His					OR51E2_uc021qcr.1_Missense_Mutation_p.R272H	p.R272H	NM_030774	NP_110401	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	1059	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	272					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.815G>A	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.546775	0.00140	4.54E-4	0.0	ENSG00000167332	ENST00000396950	T	0.00115	8.71	4.97	1.3	0.21679	GPCR, rhodopsin-like superfamily (1);	0.139482	0.32987	N	0.005414	T	0.00039	0.0001	N	0.00166	-1.94	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	10	0.02654	T	1	.	4.5007	0.11863	0.0:0.1826:0.1654:0.6521	.	272	Q9H255	O51E2_HUMAN	H	272	ENSP00000380153:R272H	ENSP00000380153:R272H	R	-	2	0	OR51E2	4659703	0.000000	0.05858	0.642000	0.29436	0.042000	0.13812	-0.122000	0.10627	0.051000	0.15978	-0.302000	0.09304	CGT		0.507	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774	
OR52N4	390072	broad.mit.edu	37	11	5776764	5776764	+	Missense_Mutation	SNP	G	G	A	rs574734485		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:5776764G>A	ENST00000317254.3	+	1	842	c.794G>A	c.(793-795)cGc>cAc	p.R265H	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTTTCCCACCGCTTTGGGGAA	0.468																																						uc001mbu.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(793-795)cGc>cAc		Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.							194.0	183.0	187.0					11																	5776764		1971	4186	6157	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776764G>A	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.794G>A	11.37:g.5776764G>A	ENSP00000323224:p.Arg265His					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	p.R265H	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	0	842	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	265					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.794G>A	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494430	0.64186	.	.	ENSG00000181074	ENST00000317254	T	0.37235	1.21	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001355	T	0.48892	0.1525	M	0.82823	2.61	0.27867	N	0.94018	B	0.19200	0.034	B	0.26693	0.072	T	0.49437	-0.8940	10	0.66056	D	0.02	.	18.5053	0.90894	0.0:0.0:1.0:0.0	.	265	Q8NGI2	O52N4_HUMAN	H	265	ENSP00000323224:R265H	ENSP00000323224:R265H	R	+	2	0	OR52N4	5733340	0.024000	0.19004	0.742000	0.31022	0.978000	0.69477	1.992000	0.40737	2.705000	0.92388	0.644000	0.83932	CGC		0.468	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175	
OR8I2	120586	broad.mit.edu	37	11	55861299	55861299	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:55861299C>A	ENST00000302124.2	+	1	547	c.516C>A	c.(514-516)agC>agA	p.S172R		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTGATTCCAGCATCAATCATT	0.448																																						uc010rix.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(514-516)agC>agA		Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.							163.0	153.0	156.0					11																	55861299		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861299C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.516C>A	11.37:g.55861299C>A	ENSP00000303864:p.Ser172Arg						p.S172R	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			0	516	+	Esophageal squamous(21;0.00693)		172					B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.516C>A	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	5.691	0.311977	0.10789	.	.	ENSG00000172154	ENST00000302124	T	0.00099	8.73	4.33	-3.45	0.04781	GPCR, rhodopsin-like superfamily (1);	2.086290	0.02733	N	0.115390	T	0.00073	0.0002	N	0.01091	-1.02	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.43065	-0.9414	10	0.87932	D	0	0.0088	11.9976	0.53212	0.0:0.28:0.0:0.72	.	172	Q8N0Y5	OR8I2_HUMAN	R	172	ENSP00000303864:S172R	ENSP00000303864:S172R	S	+	3	2	OR8I2	55617875	0.000000	0.05858	0.001000	0.08648	0.176000	0.22953	-2.151000	0.01289	-0.749000	0.04747	-0.423000	0.05987	AGC		0.448	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750	
TBC1D10C	374403	broad.mit.edu	37	11	67177159	67177159	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:67177159delC	ENST00000542590.1	+	9	1289	c.1275delC	c.(1273-1275)ggcfs	p.G425fs	TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000312390.5_Frame_Shift_Del_p.G425fs			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	425	Interaction with calcineurin.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGGCCCGGGGCCCCCCCATCG	0.682																																						uc001ola.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(1273-1275)ggcfs		Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.							9.0	13.0	11.0					11																	67177159		1944	3973	5917	SO:0001589	frameshift_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67177159delC	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1275delC	11.37:g.67177159delC	ENSP00000443654:p.Gly425fs					PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_3'UTR|TBC1D10C_uc001olb.3_Non-coding_Transcript	p.G425fs	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		9	1304	+			425			Interaction with calcineurin.		G3V1D6	Frame_Shift_Del	DEL	ENST00000542590.1	37	c.1275delC	CCDS8162.1																																																																																				0.682	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517	
ST14	6768	broad.mit.edu	37	11	130069857	130069857	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:130069857C>T	ENST00000278742.5	+	16	2237	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	607					keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CTGTGGGCTGCGGTCATTCAC	0.612																																						uc001qfw.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(1819-1821)Cgg>Tgg		Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	Urokinase(DB00013)						83.0	80.0	81.0					11																	130069857		2201	4297	6498	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130069857C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1819C>T	11.37:g.130069857C>T	ENSP00000278742:p.Arg607Trp						p.R607W	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	15	2012	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	607					Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.1819C>T	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341752	0.81911	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.93811	-3.29	5.52	5.52	0.82312	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.34386	N	0.004008	D	0.96895	0.8986	M	0.83852	2.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.70487	0.969	D	0.97267	0.9908	10	0.87932	D	0	.	19.0319	0.92960	0.0:1.0:0.0:0.0	.	607	Q9Y5Y6	ST14_HUMAN	W	607;509	ENSP00000278742:R607W	ENSP00000278742:R607W	R	+	1	2	ST14	129575067	0.993000	0.37304	0.988000	0.46212	0.859000	0.49053	2.364000	0.44187	2.599000	0.87857	0.655000	0.94253	CGG		0.612	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1		
FOXJ2	55810	broad.mit.edu	37	12	8201337	8201337	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:8201337A>G	ENST00000162391.3	+	8	2415	c.1270A>G	c.(1270-1272)Agc>Ggc	p.S424G	FOXJ2_ENST00000428177.2_Missense_Mutation_p.S424G	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	424					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TTTAAAGGAAAGCTTCAAGAT	0.428																																						uc001qtu.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(1270-1272)Agc>Ggc		Homo sapiens forkhead box J2 (FOXJ2), mRNA.							203.0	200.0	201.0					12																	8201337		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8201337A>G	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1270A>G	12.37:g.8201337A>G	ENSP00000162391:p.Ser424Gly					FOXJ2_uc001qtt.1_Missense_Mutation_p.S424G	p.S424G	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	7	2355	+			424					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.1270A>G	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535835	0.85812	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.99121	-5.42;-5.45	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	L	0.55743	1.74	0.47407	D	0.999416	P;D	0.71674	0.956;0.998	D;D	0.76071	0.931;0.987	D	0.99850	1.1070	10	0.87932	D	0	.	14.1055	0.65085	1.0:0.0:0.0:0.0	.	424;424	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	G	424	ENSP00000162391:S424G;ENSP00000403411:S424G	ENSP00000162391:S424G	S	+	1	0	FOXJ2	8092604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.042000	0.89430	2.217000	0.71921	0.528000	0.53228	AGC		0.428	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416	
CACNB3	784	broad.mit.edu	37	12	49217552	49217552	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:49217552A>G	ENST00000301050.2	+	3	456	c.257A>G	c.(256-258)aAc>aGc	p.N86S	CACNB3_ENST00000550168.1_3'UTR|CACNB3_ENST00000536187.2_Missense_Mutation_p.N85S|CACNB3_ENST00000540990.1_Missense_Mutation_p.N73S|CACNB3_ENST00000547230.1_Intron|CACNB3_ENST00000547392.1_Missense_Mutation_p.N86S	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	86	SH3.				axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTGGAGTCAACTTTGAGGCC	0.493																																						uc001rsl.2																			0				autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12						c.(256-258)aAc>aGc		Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	Verapamil(DB00661)						110.0	109.0	109.0					12																	49217552		2203	4300	6503	SO:0001583	missense	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49217552A>G		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.257A>G	12.37:g.49217552A>G	ENSP00000301050:p.Asn86Ser					CACNB3_uc010slx.2_Missense_Mutation_p.N73S|CACNB3_uc010sly.2_Missense_Mutation_p.N73S|CACNB3_uc010slz.2_Missense_Mutation_p.N85S|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Intron	p.N86S	NM_000725	NP_000716	P54284	CACB3_HUMAN			2	716	+			86			SH3.		A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	ENST00000301050.2	37	c.257A>G	CCDS8769.1	.	.	.	.	.	.	.	.	.	.	A	4.683	0.127007	0.08931	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000548279;ENST00000550190	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	4.89	4.89	0.63831	Src homology-3 domain (2);	0.046276	0.85682	D	0.000000	T	0.57784	0.2077	N	0.00066	-2.3	0.80722	D	1	D;P;B;P	0.61697	0.99;0.604;0.025;0.956	D;B;B;D	0.72982	0.979;0.218;0.004;0.931	T	0.69101	-0.5234	10	0.02654	T	1	-31.3857	13.6115	0.62080	1.0:0.0:0.0:0.0	.	85;73;73;86	F5GZW7;F5H2P6;B7Z6T5;P54284	.;.;.;CACB3_HUMAN	S	73;85;86;86;86;37	ENSP00000445495:N73S;ENSP00000444160:N85S;ENSP00000446529:N86S;ENSP00000301050:N86S;ENSP00000449497:N86S;ENSP00000447261:N37S	ENSP00000301050:N86S	N	+	2	0	CACNB3	47503819	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.723000	0.47277	2.064000	0.61679	0.260000	0.18958	AAC		0.493	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1		
ESPL1	9700	broad.mit.edu	37	12	53662942	53662942	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:53662942G>A	ENST00000257934.4	+	3	307	c.216G>A	c.(214-216)ggG>ggA	p.G72G	ESPL1_ENST00000552462.1_Silent_p.G72G	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	72					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCATCTGGGGAGCCTGCTGG	0.567																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(214-216)ggG>ggA		Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.							90.0	87.0	88.0					12																	53662942		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53662942G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.216G>A	12.37:g.53662942G>A						ESPL1_uc001scj.2_5'UTR	p.G72G	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			2	307	+			72						Silent	SNP	ENST00000257934.4	37	c.216G>A	CCDS8852.1																																																																																				0.567	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
NEDD1	121441	broad.mit.edu	37	12	97345747	97345747	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:97345747G>A	ENST00000266742.4	+	16	2238	c.1899G>A	c.(1897-1899)ctG>ctA	p.L633L	NEDD1_ENST00000457368.2_Silent_p.L544L|NEDD1_ENST00000429527.2_Silent_p.L633L|NEDD1_ENST00000411739.2_Silent_p.L544L|NEDD1_ENST00000557644.1_Silent_p.L640L	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	633					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATTCTTTGCTGGAAAGATACT	0.323																																						uc001tew.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						c.(1918-1920)ctG>ctA		Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.							76.0	77.0	77.0					12																	97345747		2203	4300	6503	SO:0001819	synonymous_variant	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97345747G>A		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1899G>A	12.37:g.97345747G>A						NEDD1_uc001teu.4_Silent_p.L633L|NEDD1_uc001tev.4_Silent_p.L633L|NEDD1_uc010svc.2_Silent_p.L544L|NEDD1_uc001tex.3_Silent_p.L544L	p.L640L	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN			14	2066	+			633					B0AZN0|B4E145|G3V3F1|Q8NA30	Silent	SNP	ENST00000266742.4	37	c.1920G>A	CCDS9063.1																																																																																				0.323	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1		
ATXN2	6311	broad.mit.edu	37	12	111895056	111895056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:111895056G>A	ENST00000377617.3	-	22	3639	c.3478C>T	c.(3478-3480)Caa>Taa	p.Q1160*	ATXN2_ENST00000535949.1_Nonsense_Mutation_p.Q853*|ATXN2_ENST00000608853.1_Nonsense_Mutation_p.Q1000*|ATXN2_ENST00000389153.4_Nonsense_Mutation_p.Q897*|ATXN2_ENST00000542287.2_Nonsense_Mutation_p.Q895*|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1160					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CCACCATGTTGGCTTTGCTGC	0.552																																						uc001tsj.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3478-3480)Caa>Taa		Homo sapiens ataxin 2 (ATXN2), mRNA.							217.0	155.0	176.0					12																	111895056		2203	4300	6503	SO:0001587	stop_gained	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111895056G>A	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3478C>T	12.37:g.111895056G>A	ENSP00000366843:p.Gln1160*					ATXN2_uc001tsh.3_Nonsense_Mutation_p.Q895*|ATXN2_uc001tsi.3_Nonsense_Mutation_p.Q853*|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Nonsense_Mutation_p.Q161*	p.Q1160*	NM_002973	NP_002964	Q99700	ATX2_HUMAN			21	3640	-			1160					A6NLD4|Q6ZQZ7|Q99493	Nonsense_Mutation	SNP	ENST00000377617.3	37	c.3478C>T	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	42	9.579803	0.99210	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-7.703	20.6243	0.99512	0.0:0.0:1.0:0.0	.	.	.	.	X	215;897;1160;161;895;853;85	.	ENSP00000366843:Q1160X	Q	-	1	0	ATXN2	110379439	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	8.829000	0.92055	2.879000	0.98667	0.650000	0.86243	CAA		0.552	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973	
FZD10	11211	broad.mit.edu	37	12	130648665	130648665	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:130648665C>T	ENST00000229030.4	+	1	1662	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	FZD10_ENST00000539839.1_Silent_p.R360R|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	393					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GACGTCAACGCGCTCACCGGC	0.657																																						uc001uii.3																			0		p.A393S(1)|p.N392K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1177-1179)gCg>gTg		Homo sapiens frizzled family receptor 10 (FZD10), mRNA.							117.0	106.0	110.0					12																	130648665		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648665C>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1178C>T	12.37:g.130648665C>T	ENSP00000229030:p.Ala393Val					FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	p.A393V	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	0	1662	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		393						Missense_Mutation	SNP	ENST00000229030.4	37	c.1178C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014380	0.93404	.	.	ENSG00000111432	ENST00000229030	D	0.82526	-1.62	5.21	5.21	0.72293	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	D	0.90386	0.6991	M	0.87456	2.885	0.80722	D	1	D	0.59767	0.986	P	0.55222	0.771	D	0.91076	0.4896	10	0.46703	T	0.11	.	18.7539	0.91825	0.0:1.0:0.0:0.0	.	393	Q9ULW2	FZD10_HUMAN	V	393	ENSP00000229030:A393V	ENSP00000229030:A393V	A	+	2	0	FZD10	129214618	1.000000	0.71417	0.230000	0.23976	0.975000	0.68041	7.644000	0.83416	2.432000	0.82394	0.561000	0.74099	GCG		0.657	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CYP46A1	10858	broad.mit.edu	37	14	100166408	100166408	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr14:100166408G>A	ENST00000261835.3	+	5	517	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R41Q	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	138					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CACAAGCAGCGGAGAGTCATA	0.627																																						uc001ygo.3																			0		p.Q137Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(412-414)cGg>cAg		Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.							74.0	63.0	67.0					14																	100166408		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100166408G>A	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.413G>A	14.37:g.100166408G>A	ENSP00000261835:p.Arg138Gln					CYP46A1_uc001ygn.1_Missense_Mutation_p.R100Q	p.R138Q	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN			4	413	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	138					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.413G>A	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790642	0.90367	.	.	ENSG00000036530	ENST00000261835;ENST00000423126	D;D	0.92752	-2.03;-3.1	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	M	0.77486	2.375	0.51482	D	0.999927	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	D	0.95778	0.8814	10	0.87932	D	0	.	14.1712	0.65510	0.0:0.0:1.0:0.0	.	138;109	Q9Y6A2;Q59ER2	CP46A_HUMAN;.	Q	138;41	ENSP00000261835:R138Q;ENSP00000405779:R41Q	ENSP00000261835:R138Q	R	+	2	0	CYP46A1	99236161	1.000000	0.71417	0.954000	0.39281	0.930000	0.56654	5.110000	0.64622	2.618000	0.88619	0.655000	0.94253	CGG		0.627	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1		
AHNAK2	113146	broad.mit.edu	37	14	105410901	105410901	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr14:105410901C>A	ENST00000333244.5	-	7	11006	c.10887G>T	c.(10885-10887)aaG>aaT	p.K3629N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3629						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTCACGTCCTTGTCAGCCA	0.597																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10885-10887)aaG>aaT		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							168.0	180.0	176.0					14																	105410901		2030	4189	6219	SO:0001583	missense	113146					nucleus		g.chr14:105410901C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10887G>T	14.37:g.105410901C>A	ENSP00000353114:p.Lys3629Asn					AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.K3529N	p.K3629N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	11007	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3629					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10887G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	14.39	2.521475	0.44866	.	.	ENSG00000185567	ENST00000333244	T	0.00730	5.77	3.89	2.02	0.26589	.	.	.	.	.	T	0.03220	0.0094	M	0.85945	2.785	0.09310	N	1	D	0.76494	0.999	D	0.72075	0.976	T	0.39563	-0.9608	9	0.16896	T	0.51	.	5.9028	0.18976	0.0:0.568:0.0:0.432	.	3629	Q8IVF2	AHNK2_HUMAN	N	3629	ENSP00000353114:K3629N	ENSP00000353114:K3629N	K	-	3	2	AHNAK2	104481946	0.297000	0.24408	0.102000	0.21198	0.055000	0.15305	-0.022000	0.12480	0.158000	0.19367	0.491000	0.48974	AAG		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105418389	105418389	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr14:105418389G>A	ENST00000333244.5	-	7	3518	c.3399C>T	c.(3397-3399)gtC>gtT	p.V1133V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1133						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGGGGCCTCGACGTCCACCT	0.632																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3397-3399)gtC>gtT		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							131.0	155.0	148.0					14																	105418389		1946	4143	6089	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418389G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3399C>T	14.37:g.105418389G>A						AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.V1033V	p.V1133V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	3519	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1133					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.3399C>T	CCDS45177.1																																																																																				0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
LOC101927079	101927079	broad.mit.edu	37	15	22332433	22332433	+	RNA	SNP	G	G	A	rs556704891		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr15:22332433G>A	ENST00000558896.1	+	0	240																											AGATTCTAACGTGACAGAACT	0.343													.|||	1	0.000199681	0.0	0.0	5008	,	,		29975	0.0		0.0	False		,,,				2504	0.001					uc001yuc.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40								Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.																																						283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22332433G>A																													15.37:g.22332433G>A						abParts_uc001yuj.2_Intron|OR4N4_uc001ytz.1_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron		NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	2		+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)							Translation_Start_Site	SNP	ENST00000558896.1	37																																																																																						0.343	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1		
DUOX2	50506	broad.mit.edu	37	15	45393418	45393418	+	Missense_Mutation	SNP	C	C	T	rs146664125		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr15:45393418C>T	ENST00000603300.1	-	22	3108	c.2906G>A	c.(2905-2907)cGg>cAg	p.R969Q	DUOX2_ENST00000389039.6_Missense_Mutation_p.R969Q	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	969	Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCCAGGTGTCCGAGTGATGAA	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20000	0.0		0.0	False		,,,				2504	0.0					uc001zun.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(2905-2907)cGg>cAg		Homo sapiens dual oxidase 2 (DUOX2), mRNA.		C	GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	43.0	44.0	44.0		2906	2.0	1.0	15	dbSNP_134	44	12,8584	8.4+/-32.0	0,12,4286	yes	missense	DUOX2	NM_014080.4	43	0,13,6483	TT,TC,CC		0.1396,0.0227,0.1001	benign	969/1549	45393418	13,12979	2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45393418C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2906G>A	15.37:g.45393418C>T	ENSP00000475084:p.Arg969Gln					DUOX2_uc010bea.3_Missense_Mutation_p.R969Q	p.R969Q	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	21	3109	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	969			Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.2906G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165525	0.21538	2.27E-4	0.001396	ENSG00000140279	ENST00000389039	.	.	.	4.91	2.03	0.26663	.	0.765681	0.12472	N	0.465936	T	0.28067	0.0692	L	0.34521	1.04	0.19945	N	0.999943	B	0.06786	0.001	B	0.04013	0.001	T	0.17440	-1.0369	9	0.27082	T	0.32	-13.6793	6.4602	0.21952	0.0:0.7069:0.0:0.2931	.	969	Q9NRD8	DUOX2_HUMAN	Q	969	.	ENSP00000373691:R969Q	R	-	2	0	DUOX2	43180710	0.115000	0.22152	0.966000	0.40874	0.648000	0.38561	0.462000	0.21956	0.780000	0.33566	0.609000	0.83330	CGG		0.547	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	
CCPG1	9236	broad.mit.edu	37	15	55652558	55652559	+	Frame_Shift_Ins	INS	-	-	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr15:55652558_55652559insC	ENST00000310958.6	-	8	1710_1711	c.1412_1413insG	c.(1411-1413)ggcfs	p.G471fs	CCPG1_ENST00000442196.3_Frame_Shift_Ins_p.G471fs|CCPG1_ENST00000569205.1_Frame_Shift_Ins_p.G471fs|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	471					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GGCTTCCTCTGCCCCCTTTCTT	0.391																																						uc010bfk.2																			0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(1411-1413)ggcfs		Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.																																				SO:0001589	frameshift_variant	9236				cell cycle	integral to membrane		g.chr15:55652558_55652559insC	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1413dupG	15.37:g.55652563_55652563dupC	ENSP00000311656:p.Gly471fs					CCPG1_uc002acy.3_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acu.2_Frame_Shift_Ins_p.G327fs|CCPG1_uc002acz.2_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acw.2_Frame_Shift_Ins_p.G196fs|CCPG1_uc002acx.3_Intron|CCPG1_uc002acv.2_Frame_Shift_Ins_p.G471fs|CCPG1_uc021smu.1_Frame_Shift_Ins_p.G91fs	p.G471fs	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	7	1711_1712	-			471					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Frame_Shift_Ins	INS	ENST00000310958.6	37	c.1412_1413insG	CCDS42039.1																																																																																				0.391	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748	
GFOD2	81577	broad.mit.edu	37	16	67709764	67709764	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr16:67709764C>T	ENST00000268797.7	-	3	797	c.452G>A	c.(451-453)cGc>cAc	p.R151H	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	151					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGAGTAGATGCGGGCATCACA	0.592																																						uc002eub.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(451-453)cGc>cAc		Homo sapiens glucose-fructose oxidoreductase domain containing 2 (GFOD2), transcript variant 1, mRNA.							81.0	73.0	76.0					16																	67709764		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709764C>T	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.452G>A	16.37:g.67709764C>T	ENSP00000268797:p.Arg151His					GFOD2_uc002euc.3_Missense_Mutation_p.R46H|GFOD2_uc002eua.1_Non-coding_Transcript	p.R151H	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	2	747	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	151					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.452G>A	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973844	0.74246	.	.	ENSG00000141098	ENST00000268797	T	0.43294	0.95	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	L	0.56769	1.78	0.80722	D	1	P	0.51351	0.944	P	0.46917	0.531	T	0.44498	-0.9324	10	0.34782	T	0.22	-20.5	18.2572	0.90023	0.0:1.0:0.0:0.0	.	151	Q3B7J2	GFOD2_HUMAN	H	151	ENSP00000268797:R151H	ENSP00000268797:R151H	R	-	2	0	GFOD2	66267265	0.998000	0.40836	0.989000	0.46669	0.508000	0.34012	3.974000	0.56852	2.475000	0.83589	0.557000	0.71058	CGC		0.592	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819	
CBFA2T3	863	broad.mit.edu	37	16	88945788	88945788	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr16:88945788C>T	ENST00000268679.4	-	11	1948	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	RP11-830F9.5_ENST00000569249.1_RNA|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.E432K|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.E442K|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.E480K|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.E432K	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	518			E -> K (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E518K(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GTGATGAGCTCGTGCGCTTTG	0.657			T	RUNX1	AML																																	uc002fmm.2				Dom	yes		16	16q24	863	T	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""			L	RUNX1		AML		1	Substitution - Missense(1)	p.E518K(2)|p.H517H(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1552-1554)Gag>Aag		Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.							81.0	70.0	73.0					16																	88945788		2198	4298	6496	SO:0001583	missense	863				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:88945788C>T	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1552G>A	16.37:g.88945788C>T	ENSP00000268679:p.Glu518Lys					CBFA2T3_uc002fml.2_Missense_Mutation_p.E432K|CBFA2T3_uc002fmk.2_Missense_Mutation_p.E17K	p.E518K	NM_005187	NP_005178	O75081	MTG16_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0275)	10	1841	-			518		E -> K (in a colorectal cancer sample; somatic mutation).			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	c.1552G>A	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166906	0.94768	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.7	4.7	0.59300	.	0.116434	0.56097	D	0.000024	T	0.64702	0.2622	M	0.82323	2.585	0.80722	D	1	D;D	0.63046	0.992;0.987	P;P	0.59012	0.812;0.85	T	0.72880	-0.4158	10	0.87932	D	0	-2.3526	17.6401	0.88133	0.0:1.0:0.0:0.0	.	518;432	O75081;O75081-2	MTG16_HUMAN;.	K	432;518;480;442;432	ENSP00000332122:E432K;ENSP00000268679:E518K;ENSP00000395739:E480K;ENSP00000401254:E442K;ENSP00000353449:E432K	ENSP00000268679:E518K	E	-	1	0	CBFA2T3	87473289	1.000000	0.71417	0.912000	0.35992	0.434000	0.31775	7.536000	0.82023	2.145000	0.66743	0.462000	0.41574	GAG		0.657	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187	
GPR179	440435	broad.mit.edu	37	17	36499303	36499303	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr17:36499303C>G	ENST00000342292.4	-	1	390	c.370G>C	c.(370-372)Gag>Cag	p.E124Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	124					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACATCCTCCTCCACACTGGAC	0.627																																						uc002hpz.3																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(370-372)Gag>Cag		Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.							46.0	46.0	46.0					17																	36499303		2139	4252	6391	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36499303C>G		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.370G>C	17.37:g.36499303C>G	ENSP00000345060:p.Glu124Gln						p.E124Q	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			0	391	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	124						Missense_Mutation	SNP	ENST00000342292.4	37	c.370G>C	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314671	0.60524	.	.	ENSG00000188888	ENST00000342292	T	0.79033	-1.23	5.14	5.14	0.70334	.	0.067944	0.56097	D	0.000032	T	0.65417	0.2689	L	0.39898	1.24	0.27372	N	0.95567	P	0.43431	0.807	B	0.39217	0.294	T	0.60414	-0.7268	10	0.27082	T	0.32	-17.9939	7.9078	0.29771	0.0:0.8317:0.0:0.1683	.	124	Q6PRD1	GP179_HUMAN	Q	124	ENSP00000345060:E124Q	ENSP00000345060:E124Q	E	-	1	0	GPR179	33752829	0.932000	0.31603	1.000000	0.80357	0.994000	0.84299	1.162000	0.31786	2.837000	0.97791	0.655000	0.94253	GAG		0.627	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
TMEM241	85019	broad.mit.edu	37	18	20889650	20889650	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr18:20889650G>A	ENST00000383233.3	-	14	876	c.824C>T	c.(823-825)aCg>aTg	p.T275M	TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000450466.2_Missense_Mutation_p.T154M|TMEM241_ENST00000475185.1_5'UTR	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	275						integral component of membrane (GO:0016021)											TTACCATCCCGTGGTTGCACT	0.403																																						uc002kuf.3																			0											c.(823-825)aCg>aTg		Homo sapiens transmembrane protein 241 (TMEM241), mRNA.							143.0	133.0	136.0					18																	20889650		1941	4143	6084	SO:0001583	missense	85019					integral to membrane		g.chr18:20889650G>A	BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"""chromosome 18 open reading frame 45"""	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.824C>T	18.37:g.20889650G>A	ENSP00000372720:p.Thr275Met					TMEM241_uc010xaq.2_Non-coding_Transcript|TMEM241_uc010xar.2_Non-coding_Transcript|TMEM241_uc002kug.3_Non-coding_Transcript|TMEM241_uc002kuh.3_Non-coding_Transcript|TMEM241_uc002kue.3_Non-coding_Transcript	p.T275M	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN			13	933	-			275					I0J130|Q6ZTS7|Q6ZW41	Missense_Mutation	SNP	ENST00000383233.3	37	c.824C>T	CCDS11876.2	.	.	.	.	.	.	.	.	.	.	G	2.424	-0.332352	0.05314	.	.	ENSG00000134490	ENST00000450466;ENST00000383233	T;T	0.68903	0.93;-0.36	4.44	0.547	0.17202	.	.	.	.	.	T	0.45054	0.1323	N	0.14661	0.345	0.58432	D	0.999991	B	0.06786	0.001	B	0.04013	0.001	T	0.19063	-1.0317	9	0.35671	T	0.21	-12.9142	9.1839	0.37158	0.9023:0.0:0.0977:0.0	.	275	Q24JQ0	CR045_HUMAN	M	154;275	ENSP00000414899:T154M;ENSP00000372720:T275M	ENSP00000372720:T275M	T	-	2	0	C18orf45	19143648	0.800000	0.28916	0.428000	0.26697	0.018000	0.09664	1.363000	0.34159	0.285000	0.22329	-1.417000	0.01113	ACG		0.403	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254702.3	NM_032933	
MIER2	54531	broad.mit.edu	37	19	307371	307371	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr19:307371T>C	ENST00000264819.4	-	13	1374	c.1364A>G	c.(1363-1365)tAc>tGc	p.Y455C	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	455					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)		AGCTGGCTGGTATGAGGCTGG	0.687																																						uc002lok.1																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1363-1365)tAc>tGc		Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.							15.0	16.0	16.0					19																	307371		2199	4298	6497	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:307371T>C	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.1364A>G	19.37:g.307371T>C	ENSP00000264819:p.Tyr455Cys						p.Y455C	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)	12	1373	-		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)	455					Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.1364A>G	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	T	6.402	0.442314	0.12164	.	.	ENSG00000105556	ENST00000264819	T	0.22539	1.95	3.66	-1.95	0.07548	.	1.412380	0.04861	N	0.444155	T	0.14787	0.0357	L	0.32530	0.975	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.32134	-0.9918	10	0.59425	D	0.04	-6.0952	3.0293	0.06102	0.4065:0.1943:0.0:0.3992	.	455	Q8N344	MIER2_HUMAN	C	455	ENSP00000264819:Y455C	ENSP00000264819:Y455C	Y	-	2	0	MIER2	258371	0.000000	0.05858	0.002000	0.10522	0.034000	0.12701	-0.470000	0.06639	-0.695000	0.05105	-0.371000	0.07208	TAC		0.687	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843	
CHAF1A	10036	broad.mit.edu	37	19	4409704	4409704	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr19:4409704C>A	ENST00000301280.5	+	3	1009	c.908C>A	c.(907-909)cCa>cAa	p.P303Q		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	303	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCTCCCCCAAAGCAGCAC	0.612								Chromatin Structure																														uc002mal.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(907-909)cCa>cAa	Chromatin Structure	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.							80.0	71.0	74.0					19																	4409704		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4409704C>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.908C>A	19.37:g.4409704C>A	ENSP00000301280:p.Pro303Gln						p.P303Q	NM_005483	NP_005474	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1008	+		Hepatocellular(1079;0.137)	303			Binds to CBX1 chromo shadow domain.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.908C>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766852	0.31320	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.20881	2.04	5.78	-7.63	0.01290	.	.	.	.	.	T	0.10380	0.0254	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39210	-0.9625	9	0.87932	D	0	10.1966	9.1843	0.37160	0.1895:0.4752:0.3353:0.0	.	303	Q13111	CAF1A_HUMAN	Q	303	ENSP00000301280:P303Q	ENSP00000301280:P303Q	P	+	2	0	CHAF1A	4360704	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.128000	0.10531	-1.870000	0.01139	-0.340000	0.08031	CCA		0.612	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483	
PLEKHG2	64857	broad.mit.edu	37	19	39913972	39913972	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr19:39913972G>A	ENST00000409794.3	+	18	3128	c.2278G>A	c.(2278-2280)Gca>Aca	p.A760T	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.A731T|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.A701T|PLEKHG2_ENST00000409797.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	760					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGATGAGCTGGCATTCCGCTC	0.597																																						uc010xuz.2																			0				breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(2278-2280)Gca>Aca		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.							40.0	45.0	43.0					19																	39913972		2203	4299	6502	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39913972G>A	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2278G>A	19.37:g.39913972G>A	ENSP00000386733:p.Ala760Thr					PLEKHG2_uc010xuy.2_Missense_Mutation_p.A701T|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.A538T	p.A760T	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		17	2603	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		760					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.2278G>A	CCDS33022.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.94|11.94	1.789312|1.789312	0.31685|0.31685	.|.	.|.	ENSG00000090924|ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000458508|ENST00000205135	T;T;T|.	0.70045|.	-0.31;-0.31;-0.45|.	5.35|5.35	3.15|3.15	0.36227|0.36227	.|.	1.111920|.	0.06862|.	N|.	0.799319|.	T|.	0.39600|.	0.1084|.	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B;B;B|.	0.29716|.	0.187;0.067;0.255|.	B;B;B|.	0.26969|.	0.075;0.034;0.071|.	T|.	0.11203|.	-1.0597|.	10|.	0.49607|.	T|.	0.09|.	.|.	12.4308|12.4308	0.55573|0.55573	0.0:0.3243:0.6757:0.0|0.0:0.3243:0.6757:0.0	.|.	731;760;701|.	Q9H7P9-3;Q9H7P9;E7ESZ3|.	.;PKHG2_HUMAN;.|.	T|X	760;731;701|627	ENSP00000386733:A760T;ENSP00000392906:A731T;ENSP00000408857:A701T|.	ENSP00000386733:A760T|.	A|W	+|+	1|3	0|0	PLEKHG2|PLEKHG2	44605812|44605812	0.393000|0.393000	0.25237|0.25237	0.916000|0.916000	0.36221|0.36221	0.140000|0.140000	0.21249|0.21249	0.947000|0.947000	0.29082|0.29082	0.707000|0.707000	0.31934|0.31934	0.561000|0.561000	0.74099|0.74099	GCA|TGG		0.597	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835	
WASH2P	375260	broad.mit.edu	37	2	114357557	114357557	+	RNA	SNP	A	A	G	rs377652994		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:114357557A>G	ENST00000538033.2	+	0	2800							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GCCTACTTCTAGTGAAACTGG	0.567																																						uc010yxx.1																			0											c.(382-384)Tag>Cag		Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																																						84771							g.chr2:114357557A>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114357557A>G							p.*128Q							2	709	-									Nonstop_Mutation	SNP	ENST00000538033.2	37	c.382T>C																																																																																					0.567	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943	
TTN	7273	broad.mit.edu	37	2	179442793	179442793	+	Nonsense_Mutation	SNP	G	G	A	rs371678190		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:179442793G>A	ENST00000591111.1	-	272	63750	c.63526C>T	c.(63526-63528)Cga>Tga	p.R21176*	TTN_ENST00000342992.6_Nonsense_Mutation_p.R20249*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R13944*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R13877*|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R13752*|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R22817*|RP11-171I2.5_ENST00000604215.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21176	Fibronectin type-III 53. {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)	p.R13944*(1)|p.R20247*(1)|p.R20249*(1)|p.R13752*(1)|p.R13877*(1)		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)			GCCATAACTCGGAATTCATAT	0.423																																						uc021vsy.1																			5	Substitution - Nonsense(5)	p.R13944*(1)|p.R20247*(1)|p.R20249*(1)|p.R13752*(1)|p.R13877*(1)	breast(5)	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						c.(60745-60747)Cga>Tga		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							115.0	108.0	110.0					2																	179442793		1888	4122	6010	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442793G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63526C>T	2.37:g.179442793G>A	ENSP00000465570:p.Arg21176*					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R13944*|TTN_uc021vta.1_Nonsense_Mutation_p.R13877*|TTN_uc021vtb.1_Nonsense_Mutation_p.R13752*|AX746670_uc002umv.1_5'Flank	p.R20249*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		270	60970	-			21176			Ig-like 111.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.60745C>T		.	.	.	.	.	.	.	.	.	.	G	62	64.110339	0.99990	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.83	1.36	0.22044	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.4749	0.75471	0.0:0.0:0.2295:0.7705	.	.	.	.	X	20249;13752;13944;13877;13750	.	ENSP00000340554:R13944X	R	-	1	2	TTN	179151039	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.767000	0.38501	0.312000	0.23038	0.650000	0.86243	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
KCTD18	130535	broad.mit.edu	37	2	201371625	201371625	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:201371625C>A	ENST00000359878.3	-	2	625	c.115G>T	c.(115-117)Gca>Tca	p.A39S	KCTD18_ENST00000468413.1_5'UTR|KCTD18_ENST00000409157.1_Missense_Mutation_p.A39S	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	39	BTB.				protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AACATAGATGCCAACATGGAG	0.458																																						uc002uvs.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(115-117)Gca>Tca		Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.							83.0	88.0	86.0					2																	201371625		2203	4300	6503	SO:0001583	missense	130535					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:201371625C>A	AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 18"""				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.115G>T	2.37:g.201371625C>A	ENSP00000352941:p.Ala39Ser					KCTD18_uc002uvt.3_Missense_Mutation_p.A39S|KCTD18_uc002uvu.1_Missense_Mutation_p.A39S	p.A39S	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN			1	632	-			39			BTB.		Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	ENST00000359878.3	37	c.115G>T	CCDS2330.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988625	0.53934	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	T;T	0.76060	-0.99;-0.99	5.46	4.59	0.56863	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000005	T	0.60064	0.2240	N	0.25890	0.77	0.32592	N	0.526991	B;P	0.37061	0.004;0.58	B;B	0.37550	0.004;0.253	T	0.67126	-0.5749	10	0.33141	T	0.24	-21.711	8.9979	0.36063	0.1467:0.7789:0.0:0.0744	.	39;39	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	S	39	ENSP00000352941:A39S;ENSP00000386751:A39S	ENSP00000352941:A39S	A	-	1	0	KCTD18	201079870	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	1.564000	0.36375	1.545000	0.49373	0.655000	0.94253	GCA		0.458	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256188.1	NM_152387	
PARD3B	117583	broad.mit.edu	37	2	205986432	205986432	+	Silent	SNP	T	T	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:205986432T>C	ENST00000406610.2	+	8	1131	c.924T>C	c.(922-924)ggT>ggC	p.G308G	PARD3B_ENST00000462231.1_Silent_p.G308G|PARD3B_ENST00000349953.3_Silent_p.G308G|PARD3B_ENST00000351153.1_Silent_p.G308G|PARD3B_ENST00000358768.2_Silent_p.G308G	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	308					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACATTTTTGGTAATAATGATG	0.453																																						uc002var.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(922-924)ggT>ggC		Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.							119.0	111.0	114.0					2																	205986432		1908	4140	6048	SO:0001819	synonymous_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205986432T>C	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.924T>C	2.37:g.205986432T>C						PARD3B_uc010fub.2_Silent_p.G308G|PARD3B_uc002vao.2_Silent_p.G308G|PARD3B_uc002vap.2_Silent_p.G308G|PARD3B_uc002vaq.2_Silent_p.G308G	p.G308G	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	7	1131	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	308					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37	c.924T>C																																																																																					0.453	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177	
ALPP	250	broad.mit.edu	37	2	233244353	233244353	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:233244353G>A	ENST00000392027.2	+	4	709	c.440G>A	c.(439-441)cGc>cAc	p.R147H	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	147					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AACACGACACGCGGCAACGAG	0.607																																						uc002vsq.3																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(439-441)cGc>cAc		Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.							43.0	40.0	41.0					2																	233244353		2203	4296	6499	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233244353G>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.440G>A	2.37:g.233244353G>A	ENSP00000375881:p.Arg147His						p.R147H	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	3	605	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	147					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.440G>A	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	.	3.490	-0.103998	0.06967	.	.	ENSG00000163283	ENST00000392027	D	0.96334	-3.98	2.22	-4.45	0.03546	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.930262	0.09331	N	0.816823	D	0.88636	0.6490	L	0.27975	0.815	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.77621	-0.2519	10	0.23302	T	0.38	.	0.951	0.01376	0.4227:0.1124:0.1479:0.317	.	147	P05187	PPB1_HUMAN	H	147	ENSP00000375881:R147H	ENSP00000375881:R147H	R	+	2	0	ALPP	232952597	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-3.989000	0.00319	-1.159000	0.02807	0.298000	0.19748	CGC		0.607	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632	
TGM3	7053	broad.mit.edu	37	20	2320632	2320632	+	Splice_Site	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr20:2320632G>A	ENST00000381458.5	+	12	1996	c.1933G>A	c.(1933-1935)Gac>Aac	p.D645N		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	645					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CCTGAAGATCGAGTGAGTCCT	0.642																																						uc002wfx.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.e12+1		Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	L-Glutamine(DB00130)						77.0	54.0	62.0					20																	2320632		2203	4300	6503	SO:0001630	splice_region_variant	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2320632G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1934+1G>A	20.37:g.2320632G>A							p.D645_splice	NM_003245	NP_003236	Q08188	TGM3_HUMAN			12	2031	+			645					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.1934_splice	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	6.356	0.433794	0.12045	.	.	ENSG00000125780	ENST00000381458	T	0.68181	-0.31	5.26	3.28	0.37604	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	1.071550	0.07151	N	0.849146	T	0.48502	0.1503	L	0.32530	0.975	0.33331	D	0.56856	P	0.37997	0.614	B	0.28139	0.086	T	0.48210	-0.9055	10	0.09590	T	0.72	-1.7848	8.6708	0.34149	0.1828:0.0:0.8172:0.0	.	645	Q08188	TGM3_HUMAN	N	645	ENSP00000370867:D645N	ENSP00000370867:D645N	D	+	1	0	TGM3	2268632	0.959000	0.32827	0.947000	0.38551	0.327000	0.28475	1.545000	0.36169	1.208000	0.43306	0.561000	0.74099	GAC		0.642	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	Missense_Mutation
SEMG1	6406	broad.mit.edu	37	20	43836470	43836470	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr20:43836470G>A	ENST00000372781.3	+	2	589	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	SEMG1_ENST00000244069.6_Missense_Mutation_p.V178I	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	178	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ACAAACTTCCGTCTCTGGTGC	0.423																																						uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36								Homo sapiens semenogelin II (SEMG2), mRNA.							81.0	76.0	78.0					20																	43836470		2203	4300	6503	SO:0001583	missense	6406				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836470G>A		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.532G>A	20.37:g.43836470G>A	ENSP00000361867:p.Val178Ile					SEMG2_uc002xni.2_Missense_Mutation_p.V178I|SEMG2_uc002xnj.2_Missense_Mutation_p.V178I		NM_003008	NP_002999	Q02383	SEMG2_HUMAN					+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37		CCDS13345.1	.	.	.	.	.	.	.	.	.	.	G	4.789	0.146628	0.09134	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.08102	3.13;3.13	1.02	-2.04	0.07343	.	.	.	.	.	T	0.10895	0.0266	L	0.57536	1.79	0.09310	N	1	P;B;D	0.53745	0.941;0.14;0.962	B;B;P	0.48770	0.304;0.062;0.589	T	0.19257	-1.0311	9	0.28530	T	0.3	.	6.5467	0.22410	0.0:0.3717:0.6283:0.0	.	178;178;178	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	I	178	ENSP00000244069:V178I;ENSP00000361867:V178I	ENSP00000244069:V178I	V	+	1	0	SEMG1	43269884	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.602000	0.05680	-0.657000	0.05373	-0.357000	0.07601	GTC		0.423	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007	
KRTAP6-1	337966	broad.mit.edu	37	21	31986055	31986055	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr21:31986055A>T	ENST00000329122.2	-	1	194	c.169T>A	c.(169-171)Tgt>Agt	p.C57S	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	57						cytosol (GO:0005829)|intermediate filament (GO:0005882)				breast(2)|endometrium(1)|lung(7)	10						CCATAGCCACAGAGGGAGCGG	0.567																																						uc002yop.3																			0				breast(2)|endometrium(1)|lung(7)	10						c.(169-171)Tgt>Agt		Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.							103.0	109.0	107.0					21																	31986055		2203	4300	6503	SO:0001583	missense	337966					cytosol|intermediate filament		g.chr21:31986055A>T	AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"""Keratin associated proteins"""	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.169T>A	21.37:g.31986055A>T	ENSP00000332690:p.Cys57Ser					KRTAP20-1_uc011ade.2_5'Flank	p.C57S	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN			0	169	-			57						Missense_Mutation	SNP	ENST00000329122.2	37	c.169T>A	CCDS13602.1	.	.	.	.	.	.	.	.	.	.	A	6.781	0.512996	0.12944	.	.	ENSG00000184724	ENST00000329122	T	0.17854	2.25	4.1	1.49	0.22878	.	0.388604	0.18562	U	0.137595	T	0.11623	0.0283	.	.	.	0.09310	N	1	B	0.19817	0.039	B	0.20955	0.032	T	0.21552	-1.0242	9	0.87932	D	0	.	5.4794	0.16715	0.7243:0.1741:0.1016:0.0	.	57	Q3LI64	KRA61_HUMAN	S	57	ENSP00000332690:C57S	ENSP00000332690:C57S	C	-	1	0	KRTAP6-1	30907926	0.927000	0.31430	0.561000	0.28357	0.481000	0.33189	1.849000	0.39318	0.742000	0.32697	0.472000	0.43445	TGT		0.567	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128240.2	NM_181602	
MYH9	4627	broad.mit.edu	37	22	36689392	36689392	+	Missense_Mutation	SNP	C	C	T	rs569649580		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr22:36689392C>T	ENST00000216181.5	-	30	4308	c.4078G>A	c.(4078-4080)Gcc>Acc	p.A1360T		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1360					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGAGGGTGGCGATCTGCTTC	0.662			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.3				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4078-4080)Gcc>Acc		Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.							73.0	73.0	73.0					22																	36689392		2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36689392C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4078G>A	22.37:g.36689392C>T	ENSP00000216181:p.Ala1360Thr						p.A1360T	NM_002473	NP_002464	P35579	MYH9_HUMAN			29	4309	-			1360					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.4078G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	9.154	1.016950	0.19355	.	.	ENSG00000100345	ENST00000216181	T	0.78924	-1.22	5.27	-1.05	0.10036	Myosin tail (1);	0.855692	0.10532	N	0.663684	T	0.57330	0.2046	N	0.12569	0.235	0.24098	N	0.995885	B	0.02656	0.0	B	0.08055	0.003	T	0.49835	-0.8897	10	0.87932	D	0	.	6.6576	0.22996	0.5714:0.2754:0.0:0.1532	.	1360	P35579	MYH9_HUMAN	T	1360	ENSP00000216181:A1360T	ENSP00000216181:A1360T	A	-	1	0	MYH9	35019338	0.000000	0.05858	0.358000	0.25811	0.960000	0.62799	0.015000	0.13355	0.034000	0.15491	-0.500000	0.04577	GCC		0.662	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
HES1	3280	broad.mit.edu	37	3	193855643	193855643	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr3:193855643A>C	ENST00000232424.3	+	4	700	c.464A>C	c.(463-465)tAc>tCc	p.Y155S		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GCCATGACCTACCCCGGGCAG	0.731																																						uc003ftq.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(463-465)tAc>tCc		Homo sapiens hairy and enhancer of split 1, (Drosophila) (HES1), mRNA.							36.0	37.0	37.0					3																	193855643		2203	4300	6503	SO:0001583	missense	3280				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr3:193855643A>C	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"""Basic helix-loop-helix proteins"""	5192	protein-coding gene	gene with protein product		139605	"""hairy homolog (Drosophila)"", ""hairy and enhancer of split 1, (Drosophila)"""	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.464A>C	3.37:g.193855643A>C	ENSP00000232424:p.Tyr155Ser						p.Y155S	NM_005524	NP_005515	Q14469	HES1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	3	703	+	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		155					A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	ENST00000232424.3	37	c.464A>C	CCDS3305.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.538844	0.45176	.	.	ENSG00000114315	ENST00000232424	T	0.18338	2.22	4.6	3.4	0.38934	.	0.091745	0.44097	U	0.000491	T	0.13114	0.0318	L	0.39898	1.24	0.54753	D	0.999988	B	0.29481	0.245	B	0.24269	0.052	T	0.07868	-1.0750	10	0.34782	T	0.22	-4.353	9.9087	0.41392	0.8473:0.0:0.0:0.1527	.	155	Q14469	HES1_HUMAN	S	155	ENSP00000232424:Y155S	ENSP00000232424:Y155S	Y	+	2	0	HES1	195338337	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.603000	0.67619	0.688000	0.31529	0.454000	0.30748	TAC		0.731	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1		
PLCXD3	345557	broad.mit.edu	37	5	41313846	41313846	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr5:41313846A>T	ENST00000377801.3	-	3	913	c.839T>A	c.(838-840)gTc>gAc	p.V280D	PLCXD3_ENST00000328457.3_Missense_Mutation_p.V280D			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	280					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTGCGTGCGGACCCACTGCAT	0.433																																						uc003jmm.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(838-840)gTc>gAc		Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.							77.0	72.0	74.0					5																	41313846		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41313846A>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.839T>A	5.37:g.41313846A>T	ENSP00000367032:p.Val280Asp						p.V280D	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	941	-			280					A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.839T>A	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583737	0.86748	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.116192	0.64402	D	0.000016	T	0.53658	0.1810	L	0.46819	1.47	0.80722	D	1	P	0.48407	0.91	B	0.41271	0.352	T	0.60647	-0.7222	9	0.72032	D	0.01	-6.8615	15.8879	0.79264	1.0:0.0:0.0:0.0	.	280	Q63HM9	PLCX3_HUMAN	D	280	.	ENSP00000333751:V280D	V	-	2	0	PLCXD3	41349603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.886000	0.92447	2.163000	0.67991	0.533000	0.62120	GTC		0.433	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875	
NMUR2	56923	broad.mit.edu	37	5	151784217	151784217	+	Missense_Mutation	SNP	C	C	T	rs370782921		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr5:151784217C>T	ENST00000255262.3	-	1	623	c.458G>A	c.(457-459)cGc>cAc	p.R153H	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	153					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CAGTTTGGCGCGGAACGGGTG	0.637																																						uc003luv.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(457-459)cGc>cAc		Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.							47.0	53.0	51.0					5																	151784217		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784217C>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.458G>A	5.37:g.151784217C>T	ENSP00000255262:p.Arg153His						p.R153H	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		0	624	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	153					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.458G>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072172	0.55646	.	.	ENSG00000132911	ENST00000255262	T	0.39406	1.08	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.170414	0.42548	D	0.000689	T	0.58192	0.2105	M	0.62723	1.935	0.44330	D	0.997219	D	0.89917	1.0	D	0.68353	0.957	T	0.57883	-0.7734	10	0.48119	T	0.1	-15.3605	11.5244	0.50571	0.0:0.9184:0.0:0.0816	.	153	Q9GZQ4	NMUR2_HUMAN	H	153	ENSP00000255262:R153H	ENSP00000255262:R153H	R	-	2	0	NMUR2	151764410	0.070000	0.21116	0.918000	0.36340	0.403000	0.30841	0.584000	0.23864	2.502000	0.84385	0.591000	0.81541	CGC		0.637	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
DOCK2	1794	broad.mit.edu	37	5	169508958	169508958	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr5:169508958G>A	ENST00000256935.8	+	51	5480	c.5400G>A	c.(5398-5400)cgG>cgA	p.R1800R	DOCK2_ENST00000520908.1_Silent_p.R1292R|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.R861R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1800					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACTCACACGGAAGAAGGTCA	0.527																																						uc003maf.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(5398-5400)cgG>cgA		Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.							112.0	104.0	106.0					5																	169508958		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169508958G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5400G>A	5.37:g.169508958G>A						DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.R1292R|DOCK2_uc003mah.3_Silent_p.R356R	p.R1800R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		50	5480	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1800					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.5400G>A	CCDS4371.1																																																																																				0.527	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
C6orf195	154386	broad.mit.edu	37	6	2623743	2623743	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:2623743G>C	ENST00000296847.3	-	3	837	c.314C>G	c.(313-315)gCc>gGc	p.A105G		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	105										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GCAGGGAGTGGCCTGGTCACT	0.547																																						uc003mtw.2																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)	5						c.(313-315)gCc>gGc		Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA.							61.0	66.0	64.0					6																	2623743		2015	4189	6204	SO:0001583	missense	154386							g.chr6:2623743G>C	AK056496	CCDS43416.1	6p25.2	2008-10-21			ENSG00000164385	ENSG00000164385			21600	protein-coding gene	gene with protein product							Standard	NM_152554		Approved	FLJ31934, bA145H9.2	uc003mtw.2	Q96MT4	OTTHUMG00000014122	ENST00000296847.3:c.314C>G	6.37:g.2623743G>C	ENSP00000296847:p.Ala105Gly					C6orf195_uc021ykp.1_Missense_Mutation_p.A105G	p.A105G	NM_152554	NP_689767	Q96MT4	CF195_HUMAN			2	1299	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	105					Q3SY08|Q3SY09|Q3SY10|Q5TAW4	Missense_Mutation	SNP	ENST00000296847.3	37	c.314C>G	CCDS43416.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597638	0.28445	.	.	ENSG00000164385	ENST00000296847	T	0.38560	1.13	4.07	-1.17	0.09648	.	.	.	.	.	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.33266	-0.9875	9	0.87932	D	0	.	4.039	0.09743	0.4258:0.3628:0.2113:0.0	.	105	Q96MT4	CF195_HUMAN	G	105	ENSP00000296847:A105G	ENSP00000296847:A105G	A	-	2	0	C6orf195	2568742	0.000000	0.05858	0.000000	0.03702	0.622000	0.37654	-0.351000	0.07711	-0.180000	0.10637	-0.302000	0.09304	GCC		0.547	C6orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039633.1	NM_152554	
LRRC1	55227	broad.mit.edu	37	6	53784332	53784332	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:53784332G>C	ENST00000370888.1	+	12	1420	c.1143G>C	c.(1141-1143)aaG>aaC	p.K381N	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	381						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTGCCTTGAAGTTGAAGGCTC	0.398																																						uc003pcd.1																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1141-1143)aaG>aaC		Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.							90.0	81.0	84.0					6																	53784332		1922	4135	6057	SO:0001583	missense	55227					cytoplasm|membrane		g.chr6:53784332G>C	AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1143G>C	6.37:g.53784332G>C	ENSP00000359925:p.Lys381Asn						p.K381N	NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0745)	11	1664	+	Lung NSC(77;0.0147)		381					Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	ENST00000370888.1	37	c.1143G>C	CCDS4953.2	.	.	.	.	.	.	.	.	.	.	G	6.220	0.408820	0.11812	.	.	ENSG00000137269	ENST00000370888	T	0.76968	-1.06	5.69	1.91	0.25777	.	0.206543	0.41712	D	0.000825	T	0.28532	0.0706	N	0.13327	0.33	0.80722	D	1	B	0.32245	0.361	B	0.24155	0.051	T	0.43572	-0.9383	10	0.05436	T	0.98	.	7.2111	0.25935	0.2053:0.1228:0.6719:0.0	.	381	Q9BTT6	LRRC1_HUMAN	N	381	ENSP00000359925:K381N	ENSP00000359925:K381N	K	+	3	2	LRRC1	53892291	1.000000	0.71417	0.575000	0.28536	0.996000	0.88848	2.070000	0.41491	0.063000	0.16370	0.655000	0.94253	AAG		0.398	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040970.2	NM_025168	
AK9	221264	broad.mit.edu	37	6	109993332	109993332	+	Missense_Mutation	SNP	C	C	T	rs536856236		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:109993332C>T	ENST00000424296.2	-	4	296	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	AK9_ENST00000368948.2_Missense_Mutation_p.E74K|AK9_ENST00000285397.5_Missense_Mutation_p.E74K|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	74	Adenylate kinase 1.|NMPbind 1. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ACTCCTGATTCGGTTTCAGCA	0.279													C|||	1	0.000199681	0.0	0.0	5008	,	,		20098	0.001		0.0	False		,,,				2504	0.0					uc003ptn.2																			0				endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						c.(220-222)Gaa>Aaa		Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.							67.0	64.0	65.0					6																	109993332		2202	4299	6501	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109993332C>T	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.220G>A	6.37:g.109993332C>T	ENSP00000410186:p.Glu74Lys					AKD1_uc003ptr.4_Missense_Mutation_p.E74K|AKD1_uc003pts.2_Non-coding_Transcript	p.E74K	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			3	297	-			74					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.220G>A	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	C	9.490	1.100551	0.20552	.	.	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000532976	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.7	-1.5	0.08691	ATPase, AAA+ type, core (1);	0.579487	0.19752	N	0.106866	T	0.56455	0.1986	L	0.46614	1.455	0.09310	N	0.999998	B;P	0.40230	0.372;0.708	B;B	0.44278	0.03;0.445	T	0.57929	-0.7726	9	.	.	.	-2.8792	10.4999	0.44800	0.0:0.3078:0.5383:0.1539	.	74;74	Q5TCS8-2;Q5TCS8	.;AKD1_HUMAN	K	74	ENSP00000410186:E74K;ENSP00000357944:E74K;ENSP00000285397:E74K;ENSP00000436325:E74K	.	E	-	1	0	AKD1	110100025	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.555000	0.05999	-0.204000	0.10235	-0.142000	0.14014	GAA		0.279	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	
VNN1	8876	broad.mit.edu	37	6	133005540	133005540	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:133005540G>A	ENST00000367928.4	-	6	1306	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	431					acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ACTGGGTTCCGAAAGTGCCAC	0.418																																						uc003qdo.3																			0				NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1291-1293)ttC>ttT		Homo sapiens vanin 1 (VNN1), mRNA.							90.0	85.0	87.0					6																	133005540		2203	4300	6503	SO:0001819	synonymous_variant	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133005540G>A	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.1293C>T	6.37:g.133005540G>A						VNN1_uc003qdn.3_Non-coding_Transcript	p.F431F	NM_004666	NP_004657	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	5	1313	-	Breast(56;0.135)		431					A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	ENST00000367928.4	37	c.1293C>T	CCDS5159.1																																																																																				0.418	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1		
CCZ1	51622	broad.mit.edu	37	7	5959509	5959509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr7:5959509C>T	ENST00000325974.6	+	12	1084	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	CCZ1_ENST00000537980.1_Nonsense_Mutation_p.R197*	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	340						lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						GGATTTTTGCCGAAGACTGGA	0.468																																						uc003spf.3																			0				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						c.(1018-1020)Cga>Tga		Homo sapiens CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) (CCZ1), mRNA.																																				SO:0001587	stop_gained	51622					lysosomal membrane		g.chr7:5959509C>T	AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 28A"""	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.1018C>T	7.37:g.5959509C>T	ENSP00000325681:p.Arg340*						p.R340*	NM_015622	NP_932765	P86790	CCZ1L_HUMAN			11	1108	+			340					A2RU45|O95766|Q9UG65|Q9Y359	Nonsense_Mutation	SNP	ENST00000325974.6	37	c.1018C>T	CCDS34597.1	.	.	.	.	.	.	.	.	.	.	C	39	7.778327	0.98483	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	4.95	4.05	0.47172	.	0.137334	0.49916	D	0.000137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2092	12.9362	0.58316	0.2924:0.7076:0.0:0.0	.	.	.	.	X	340;197	.	ENSP00000325681:R340X	R	+	1	2	CCZ1	5926035	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.420000	0.52735	1.068000	0.40764	0.454000	0.30748	CGA		0.468	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340391.1	NM_015622	
EGFR	1956	broad.mit.edu	37	7	55210077	55210078	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr7:55210077_55210078GG>AA	ENST00000275493.2	+	2	364_365	c.187_188GG>AA	c.(187-189)GGg>AAg	p.G63K	EGFR_ENST00000342916.3_Missense_Mutation_p.G63K|EGFR_ENST00000455089.1_Missense_Mutation_p.G63K|EGFR_ENST00000420316.2_Missense_Mutation_p.G63K|EGFR_ENST00000344576.2_Missense_Mutation_p.G63K|EGFR_ENST00000442591.1_Missense_Mutation_p.G63K|EGFR_ENST00000454757.2_Missense_Mutation_p.G10K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	63			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G63R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGTGGTCCTTGGGAATTTGGAA	0.396		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - Missense(1)	p.V30_R297>G(5)|p.G63R(2)|p.L62R(2)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(187-189)ggg>AAg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210077_55210078GG>AA		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	Exception_encountered	7.37:g.55210077_55210078delinsAA	ENSP00000275493:p.Gly63Lys	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.G63K|EGFR_uc003tqi.3_Missense_Mutation_p.G63K|EGFR_uc003tqj.3_Missense_Mutation_p.G63K|EGFR_uc022adm.1_Missense_Mutation_p.G63K|EGFR_uc010kzg.2_Missense_Mutation_p.G63K|EGFR_uc022adn.1_Missense_Mutation_p.G63K|EGFR_uc011kco.2_Missense_Mutation_p.G10K	p.G63K	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		1	433_434	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		63					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	DNP	ENST00000275493.2	37	c.187_188GG>AA	CCDS5514.1																																																																																				0.396	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
STEAP1	26872	broad.mit.edu	37	7	89794038	89794038	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr7:89794038C>A	ENST00000297205.2	+	5	1210	c.1010C>A	c.(1009-1011)tCc>tAc	p.S337Y	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	337					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GAGATATGTTCCCAGTTGTAG	0.299																																						uc003ujx.3																			0				kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1009-1011)tCc>tAc		Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA.							48.0	47.0	47.0					7																	89794038		2202	4299	6501	SO:0001583	missense	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89794038C>A	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.1010C>A	7.37:g.89794038C>A	ENSP00000297205:p.Ser337Tyr					STEAP2_uc003ujy.2_5'Flank	p.S337Y	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN			4	1210	+	all_hematologic(106;0.112)		337					A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	c.1010C>A	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303099	0.40795	.	.	ENSG00000164647	ENST00000297205	T	0.08008	3.14	5.79	3.64	0.41730	.	0.231087	0.31092	N	0.008276	T	0.12092	0.0294	M	0.70595	2.14	0.34334	D	0.687967	P	0.42785	0.79	B	0.39876	0.312	T	0.24154	-1.0168	10	0.87932	D	0	0.1626	11.1798	0.48620	0.0:0.7915:0.1308:0.0776	.	337	Q9UHE8	STEA1_HUMAN	Y	337	ENSP00000297205:S337Y	ENSP00000297205:S337Y	S	+	2	0	STEAP1	89631974	0.892000	0.30473	0.958000	0.39756	0.736000	0.42039	2.006000	0.40874	1.435000	0.47434	0.655000	0.94253	TCC		0.299	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449	
LHFPL3	375612	broad.mit.edu	37	7	104377161	104377161	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr7:104377161G>C	ENST00000401970.2	+	2	565	c.443G>C	c.(442-444)gGc>gCc	p.G148A	LHFPL3_ENST00000535008.1_Missense_Mutation_p.G162A|LHFPL3-AS1_ENST00000449764.1_RNA|LHFPL3_ENST00000543266.1_Missense_Mutation_p.G162A|LHFPL3_ENST00000424859.1_Missense_Mutation_p.G148A|LHFPL3-AS1_ENST00000433514.1_RNA			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	162						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						TTCCCTGATGGCTGGGACTCA	0.418																																						uc003vce.3																			0				kidney(1)|large_intestine(2)|lung(6)	9						c.(484-486)gGc>gCc		Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), mRNA.							62.0	59.0	60.0					7																	104377161		1916	4140	6056	SO:0001583	missense	375612					integral to membrane		g.chr7:104377161G>C	AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.443G>C	7.37:g.104377161G>C	ENSP00000385374:p.Gly148Ala					LHFPL3_uc003vcf.3_Missense_Mutation_p.G162A	p.G162A	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN			1	609	+			148					A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000401970.2	37	c.485G>C		.	.	.	.	.	.	.	.	.	.	G	26.2	4.717815	0.89205	.	.	ENSG00000187416	ENST00000424859;ENST00000535008;ENST00000401970;ENST00000543266	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.12	5.12	0.69794	.	0.101366	0.64402	D	0.000002	D	0.90686	0.7078	M	0.91406	3.205	0.80722	D	1	D;D	0.76494	0.981;0.999	D;D	0.74674	0.956;0.984	D	0.92264	0.5819	10	0.87932	D	0	.	19.116	0.93340	0.0:0.0:1.0:0.0	.	162;162	A1L384;A4D0Q5	.;.	A	148;162;148;162	ENSP00000393128:G148A;ENSP00000444350:G162A;ENSP00000385374:G148A;ENSP00000445976:G162A	ENSP00000385374:G148A	G	+	2	0	LHFPL3	104164397	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.601000	0.98297	2.821000	0.97095	0.650000	0.86243	GGC		0.418	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000348284.1	NM_199000	
DAB2IP	153090	broad.mit.edu	37	9	124538504	124538504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr9:124538504C>T	ENST00000408936.3	+	14	3330	c.3148C>T	c.(3148-3150)Cga>Tga	p.R1050*	DAB2IP_ENST00000259371.2_Nonsense_Mutation_p.R1022*|DAB2IP_ENST00000309989.1_Nonsense_Mutation_p.R926*			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1050					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGACAAGCTGCGAATCTCCAC	0.622																																						uc004bln.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(3064-3066)Cga>Tga		Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.							42.0	33.0	36.0					9																	124538504		2197	4295	6492	SO:0001587	stop_gained	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124538504C>T	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.3148C>T	9.37:g.124538504C>T	ENSP00000386183:p.Arg1050*					DAB2IP_uc004blo.3_Nonsense_Mutation_p.R926*|DAB2IP_uc004blp.3_Nonsense_Mutation_p.R455*	p.R1022*	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN			13	3133	+			1050					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Nonsense_Mutation	SNP	ENST00000408936.3	37	c.3064C>T		.	.	.	.	.	.	.	.	.	.	C	43	10.144957	0.99346	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	.	.	.	4.99	4.99	0.66335	.	0.295381	0.38217	N	0.001778	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2888	0.87150	0.0:1.0:0.0:0.0	.	.	.	.	X	1022;1050;959;926	.	ENSP00000259371:R1022X	R	+	1	2	DAB2IP	123578325	1.000000	0.71417	0.984000	0.44739	0.969000	0.65631	3.983000	0.56916	2.305000	0.77605	0.561000	0.74099	CGA		0.622	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552	
MAGEB18	286514	broad.mit.edu	37	X	26157310	26157310	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chrX:26157310A>G	ENST00000325250.1	+	2	395	c.208A>G	c.(208-210)Acc>Gcc	p.T70A		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	70						cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGCCCCATCCACCACCAATGC	0.532																																						uc022bub.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						c.(208-210)Acc>Gcc		Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.							44.0	38.0	40.0					X																	26157310		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157310A>G	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.208A>G	X.37:g.26157310A>G	ENSP00000314543:p.Thr70Ala					MAGEB18_uc004dbq.2_Missense_Mutation_p.T70A	p.T70A	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			0	208	+			70						Missense_Mutation	SNP	ENST00000325250.1	37	c.208A>G	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.243317	0.22796	.	.	ENSG00000176774	ENST00000325250	T	0.05139	3.49	3.97	-2.91	0.05631	Melanoma associated antigen, MAGE, N-terminal (1);	74.368000	0.00541	N	0.000234	T	0.05868	0.0153	L	0.42686	1.345	0.09310	N	1	B	0.26935	0.164	B	0.25884	0.064	T	0.30650	-0.9971	10	0.35671	T	0.21	.	1.1596	0.01803	0.3015:0.1724:0.3552:0.171	.	70	Q96M61	MAGBI_HUMAN	A	70	ENSP00000314543:T70A	ENSP00000314543:T70A	T	+	1	0	MAGEB18	26067231	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.122000	0.10627	-0.739000	0.04809	0.486000	0.48141	ACC		0.532	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699	
