#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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CDK11A	728642	broad.mit.edu	37	1	1635743	1635743	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:1635743C>T	ENST00000378633.1	-	15	1693	c.1614G>A	c.(1612-1614)gtG>gtA	p.V538V	CDK11A_ENST00000404249.3_Silent_p.V535V|CDK11A_ENST00000378638.2_Silent_p.V501V|CDK11A_ENST00000358779.5_Silent_p.V525V|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_Silent_p.V534V|CDK11A_ENST00000495016.1_5'UTR|CDK11A_ENST00000356200.3_Silent_p.V501V			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	538	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.V534V(1)|p.V550V(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCAGGTGTTTCACCCCCCGCA	0.662																																					Pancreas(186;965 2119 30274 40311 50569)	uc009vks.2																			2	Substitution - coding silent(2)		lung(2)	stomach(1)	1						c.(1603-1605)GTG>GTA		cell division cycle 2-like 2 isoform 1							55.0	63.0	60.0					1																	1635743		2023	4172	6195	SO:0001819	synonymous_variant	728642				apoptosis|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.chr1:1635743C>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.1614G>A	1.37:g.1635743C>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.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Silent_p.V42V|CDK11A_uc009vkp.2_Silent_p.V152V|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Silent_p.V525V|CDK11A_uc010nys.1_3'UTR	p.V535V	NM_024011	NP_076916	Q9UQ88	CD11A_HUMAN			15	1713	-			538			Protein kinase.		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	ENST00000378633.1	37	c.1605G>A																																																																																					PASS	0.662	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		14	77	14	77	---	---	---	---
SKI	6497	broad.mit.edu	37	1	2160703	2160703	+	Silent	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:2160703C>A	ENST00000378536.4	+	1	570	c.498C>A	c.(496-498)atC>atA	p.I166I		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	166					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I166I(1)		central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TCATGGGCATCCTGCCCTTCT	0.667																																					Ovarian(177;144 1678 13697 20086 27838 40755)	uc001aja.3																			1	Substitution - coding silent(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(496-498)ATC>ATA		v-ski sarcoma viral oncogene homolog							16.0	13.0	14.0					1																	2160703		2181	4283	6464	SO:0001819	synonymous_variant	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2160703C>A	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.498C>A	1.37:g.2160703C>A							p.I166I	NM_003036	NP_003027	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	1	570	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		166					Q5SYT7	Silent	SNP	ENST00000378536.4	37	c.498C>A	CCDS39.1																																																																																				PASS	0.667	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		4	12	4	12	---	---	---	---
AJAP1	55966	broad.mit.edu	37	1	4772184	4772184	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:4772184G>A	ENST00000378191.4	+	2	635	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.R85Q	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	85					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R85Q(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGGCCGCCCCGAGTGGAGCGG	0.766																																						uc001alm.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(253-255)CGA>CAA		adherens junction associated protein 1							5.0	6.0	6.0					1																	4772184		1644	3396	5040	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772184G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.254G>A	1.37:g.4772184G>A	ENSP00000367433:p.Arg85Gln					AJAP1_uc001aln.2_Missense_Mutation_p.R85Q	p.R85Q	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	635	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	85			Extracellular (Potential).		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.254G>A	CCDS54.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516707	0.27123	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.43294	0.95;0.95	5.2	2.28	0.28536	.	0.163060	0.41500	D	0.000869	T	0.22898	0.0553	N	0.24115	0.695	0.09310	N	1	P	0.46327	0.876	B	0.39068	0.289	T	0.08806	-1.0704	10	0.28530	T	0.3	-15.3682	6.8873	0.24209	0.2752:0.0:0.7248:0.0	.	85	Q9UKB5	AJAP1_HUMAN	Q	85	ENSP00000367432:R85Q;ENSP00000367433:R85Q	ENSP00000367432:R85Q	R	+	2	0	AJAP1	4672044	0.001000	0.12720	0.375000	0.26029	0.199000	0.23934	0.192000	0.17096	1.164000	0.42652	0.563000	0.77884	CGA		PASS	0.766	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		9	13	9	13	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10425617	10425617	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:10425617G>A	ENST00000377086.1	+	43	4865	c.4663G>A	c.(4663-4665)Gaa>Aaa	p.E1555K	KIF1B_ENST00000263934.6_Missense_Mutation_p.E1509K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E1555K			O60333	KIF1B_HUMAN	kinesin family member 1B	1555					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E1509K(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACTACCTTTGAAAGCGCCAT	0.552																																						uc001aqx.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(4663-4665)GAA>AAA		kinesin family member 1B isoform b							112.0	104.0	106.0					1																	10425617		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10425617G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4663G>A	1.37:g.10425617G>A	ENSP00000366290:p.Glu1555Lys					KIF1B_uc001aqw.3_Missense_Mutation_p.E1509K|KIF1B_uc001aqy.2_Missense_Mutation_p.E1529K|KIF1B_uc001aqz.2_Missense_Mutation_p.E1555K|KIF1B_uc001ara.2_Missense_Mutation_p.E1515K|KIF1B_uc001arb.2_Missense_Mutation_p.E1541K	p.E1555K	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	43	4865	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1555					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4663G>A		.	.	.	.	.	.	.	.	.	.	G	24.0	4.477571	0.84640	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.73363	-0.66;-0.74;-0.74	5.75	5.75	0.90469	.	0.053649	0.64402	D	0.000001	T	0.66137	0.2759	L	0.34521	1.04	0.80722	D	1	B;B;B;B;B;B	0.31968	0.007;0.255;0.349;0.155;0.013;0.241	B;B;B;B;B;B	0.29862	0.008;0.053;0.108;0.034;0.006;0.046	T	0.61530	-0.7044	10	0.20519	T	0.43	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	1541;1515;1555;1529;1555;1509	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	K	1555;1509;1555;1555	ENSP00000263934:E1509K;ENSP00000366290:E1555K;ENSP00000366284:E1555K	ENSP00000263934:E1509K	E	+	1	0	KIF1B	10348204	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.869000	0.99810	2.701000	0.92244	0.650000	0.86243	GAA		PASS	0.552	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			14	194	14	194	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10431296	10431296	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:10431296C>G	ENST00000377086.1	+	45	5124	c.4922C>G	c.(4921-4923)tCt>tGt	p.S1641C	KIF1B_ENST00000263934.6_Missense_Mutation_p.S1595C|KIF1B_ENST00000377081.1_Missense_Mutation_p.S1641C			O60333	KIF1B_HUMAN	kinesin family member 1B	1641					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.S1595C(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTAGACTCTAGGAGCAAC	0.488																																						uc001aqx.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(4921-4923)TCT>TGT		kinesin family member 1B isoform b							88.0	82.0	84.0					1																	10431296		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10431296C>G	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4922C>G	1.37:g.10431296C>G	ENSP00000366290:p.Ser1641Cys					KIF1B_uc001aqw.3_Missense_Mutation_p.S1595C|KIF1B_uc001aqy.2_Missense_Mutation_p.S1615C|KIF1B_uc001aqz.2_Missense_Mutation_p.S1641C|KIF1B_uc001ara.2_Missense_Mutation_p.S1601C|KIF1B_uc001arb.2_Missense_Mutation_p.S1627C	p.S1641C	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	45	5124	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1641					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4922C>G		.	.	.	.	.	.	.	.	.	.	C	12.78	2.041576	0.35989	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.15952	2.38;2.38;2.38	5.53	2.65	0.31530	.	0.332212	0.32769	N	0.005680	T	0.24699	0.0599	L	0.36672	1.1	0.34220	D	0.675352	D;D;D;D;B;B	0.67145	0.991;0.993;0.996;0.992;0.214;0.32	P;P;P;P;B;B	0.60886	0.784;0.628;0.784;0.88;0.112;0.224	T	0.26608	-1.0098	10	0.59425	D	0.04	.	9.4936	0.38976	0.0:0.7515:0.1185:0.1301	.	1627;1601;1641;1615;1641;1595	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	C	1641;1595;1641;1641	ENSP00000263934:S1595C;ENSP00000366290:S1641C;ENSP00000366284:S1641C	ENSP00000263934:S1595C	S	+	2	0	KIF1B	10353883	0.545000	0.26449	0.000000	0.03702	0.293000	0.27360	2.492000	0.45311	0.397000	0.25310	-0.753000	0.03488	TCT		PASS	0.488	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			7	110	7	110	---	---	---	---
PLOD1	5351	broad.mit.edu	37	1	12017937	12017937	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:12017937C>T	ENST00000196061.4	+	8	807	c.780C>T	c.(778-780)ttC>ttT	p.F260F	PLOD1_ENST00000376369.3_Silent_p.F307F|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	260					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.F262F(1)|p.F260F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	TCCCGCGCTTCTGGACCTTCG	0.637																																						uc001atm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)	3						c.(778-780)TTC>TTT		lysyl hydroxylase 1 precursor	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						125.0	118.0	120.0					1																	12017937		2203	4300	6503	SO:0001819	synonymous_variant	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12017937C>T	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.780C>T	1.37:g.12017937C>T						PLOD1_uc010obb.1_Silent_p.F307F	p.F260F	NM_000302	NP_000293	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	8	871	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	260					B4DR87|Q96AV9|Q9H132	Silent	SNP	ENST00000196061.4	37	c.780C>T	CCDS142.1																																																																																				PASS	0.637	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		75	276	75	276	---	---	---	---
SDHB	6390	broad.mit.edu	37	1	17359560	17359560	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:17359560C>G	ENST00000375499.3	-	3	431	c.281G>C	c.(280-282)aGa>aCa	p.R94T	SDHB_ENST00000466613.1_5'UTR	NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	94	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)	p.R94T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	CTCACCTTCTCTGCATGATCT	0.433			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													uc001bae.2			yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	Mis|N|F	"""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"""			O		paraganglioma|pheochromocytoma			1	Substitution - Missense(1)		lung(1)	breast(1)	1	GRCh37	CM061956	SDHB	M		c.(280-282)AGA>ACA		succinate dehydrogenase complex, subunit B, iron	Succinic acid(DB00139)						75.0	64.0	68.0					1																	17359560		2203	4300	6503	SO:0001583	missense	6390	Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding	g.chr1:17359560C>G	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"""Mitochondrial respiratory chain complex / Complex II"""	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.281G>C	1.37:g.17359560C>G	ENSP00000364649:p.Arg94Thr						p.R94T	NM_003000	NP_002991	P21912	DHSB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	3	432	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	94			2Fe-2S ferredoxin-type.		B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	ENST00000375499.3	37	c.281G>C	CCDS176.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839654	0.71488	.	.	ENSG00000117118	ENST00000375499	D	0.99121	-5.45	5.65	5.65	0.86999	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	H	0.99834	4.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97076	0.9781	10	0.87932	D	0	-18.7097	18.4558	0.90720	0.0:1.0:0.0:0.0	.	94	P21912	DHSB_HUMAN	T	94	ENSP00000364649:R94T	ENSP00000364649:R94T	R	-	2	0	SDHB	17232147	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	6.834000	0.75339	2.941000	0.99782	0.655000	0.94253	AGA		PASS	0.433	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006603.1	NM_003000		4	35	4	35	---	---	---	---
SDHB	6390	broad.mit.edu	37	1	17371320	17371320	+	Nonsense_Mutation	SNP	G	G	A	rs74315370		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:17371320G>A	ENST00000375499.3	-	2	286	c.136C>T	c.(136-138)Cga>Tga	p.R46*	SDHB_ENST00000466613.1_5'UTR	NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	46	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.		R -> G (in pheochromocytoma). {ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:14500403, ECO:0000269|PubMed:15328326}.|R -> Q (in pheochromocytoma and PGL4). {ECO:0000269|PubMed:12618761, ECO:0000269|PubMed:14500403, ECO:0000269|PubMed:15328326}.		aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)	p.R46*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	GGGTCCCATCGATAGATGGCA	0.438			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													uc001bae.2			yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	Mis|N|F	"""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"""			O		paraganglioma|pheochromocytoma			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1	GRCh37	CM020966|CM030519	SDHB	M	rs74315370	c.(136-138)CGA>TGA		succinate dehydrogenase complex, subunit B, iron	Succinic acid(DB00139)						94.0	92.0	93.0					1																	17371320		2203	4300	6503	SO:0001587	stop_gained	6390	Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding	g.chr1:17371320G>A	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"""Mitochondrial respiratory chain complex / Complex II"""	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.136C>T	1.37:g.17371320G>A	ENSP00000364649:p.Arg46*						p.R46*	NM_003000	NP_002991	P21912	DHSB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	2	287	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	46		R -> Q (in pheochromocytoma and PGL4).|R -> G (in pheochromocytoma).	2Fe-2S ferredoxin-type.		B2R545|Q0QEY7|Q9NQ12	Nonsense_Mutation	SNP	ENST00000375499.3	37	c.136C>T	CCDS176.1	.	.	.	.	.	.	.	.	.	.	G	38	6.999777	0.97994	.	.	ENSG00000117118	ENST00000375499	.	.	.	5.65	2.38	0.29361	.	0.054814	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7499	12.7437	0.57268	0.0:0.0:0.3461:0.6539	.	.	.	.	X	46	.	ENSP00000364649:R46X	R	-	1	2	SDHB	17243907	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	1.773000	0.38563	0.829000	0.34733	0.655000	0.94253	CGA		PASS	0.438	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006603.1	NM_003000		6	126	6	126	---	---	---	---
HEYL	26508	broad.mit.edu	37	1	40092476	40092476	+	Silent	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:40092476C>A	ENST00000372852.3	-	5	1009	c.690G>T	c.(688-690)ctG>ctT	p.L230L	HEYL_ENST00000535435.1_Silent_p.L202L	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	230	Pro-rich.				atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.L230L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TCCGGGCTGGCAGGATGATGC	0.687																																						uc001cdp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(688-690)CTG>CTT		hairy/enhancer-of-split related with YRPW							16.0	17.0	17.0					1																	40092476		2182	4257	6439	SO:0001819	synonymous_variant	26508				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:40092476C>A	BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"""Basic helix-loop-helix proteins"""	4882	protein-coding gene	gene with protein product	"""hairy/enhancer-of-split related with YRPW motif 3"""	609034	"""hairy/enhancer-of-split related with YRPW motif-like"""			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.690G>T	1.37:g.40092476C>A						HEYL_uc010oiw.1_Silent_p.L202L	p.L230L	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		5	741	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	230			Pro-rich.		Q5TG99	Silent	SNP	ENST00000372852.3	37	c.690G>T	CCDS439.1																																																																																				PASS	0.687	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001179.2	NM_014571		6	3	6	3	---	---	---	---
EFCAB7	84455	broad.mit.edu	37	1	64034100	64034100	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:64034100C>T	ENST00000371088.4	+	12	1863	c.1617C>T	c.(1615-1617)aaC>aaT	p.N539N	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	539							calcium ion binding (GO:0005509)	p.N539N(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TTCTTAGCAACGGTGATGCCA	0.368																																						uc001dbf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1615-1617)AAC>AAT		EF-hand calcium binding domain 7							140.0	134.0	136.0					1																	64034100		2203	4300	6503	SO:0001819	synonymous_variant	84455						calcium ion binding	g.chr1:64034100C>T	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1617C>T	1.37:g.64034100C>T							p.N539N	NM_032437	NP_115813	A8K855	EFCB7_HUMAN			12	1911	+			539					Q658P0|Q96B95|Q96JM6	Silent	SNP	ENST00000371088.4	37	c.1617C>T	CCDS30737.1																																																																																				PASS	0.368	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		7	139	7	139	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67185068	67185068	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:67185068C>T	ENST00000371037.4	+	19	1799	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F	SGIP1_ENST00000371035.3_Silent_p.F364F|SGIP1_ENST00000237247.6_Silent_p.F605F|SGIP1_ENST00000371039.1_Silent_p.F377F|SGIP1_ENST00000371036.3_Silent_p.F376F|SGIP1_ENST00000435165.2_Silent_p.F79F	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	574	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.F574F(1)|p.F377F(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATGCCTATTTCAAAGGAGCAG	0.473																																						uc001dcr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1720-1722)TTC>TTT		SH3-domain GRB2-like (endophilin) interacting							74.0	67.0	69.0					1																	67185068		2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67185068C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1722C>T	1.37:g.67185068C>T						SGIP1_uc010opd.1_Silent_p.F174F|SGIP1_uc001dcs.2_Silent_p.F174F|SGIP1_uc001dct.2_Silent_p.F176F|SGIP1_uc009wat.2_Silent_p.F368F|SGIP1_uc001dcu.2_Silent_p.F79F	p.F574F	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			19	1939	+			574					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.1722C>T	CCDS30744.1																																																																																				PASS	0.473	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		10	35	10	35	---	---	---	---
NEXN	91624	broad.mit.edu	37	1	78401632	78401632	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:78401632C>G	ENST00000334785.7	+	11	1560	c.1376C>G	c.(1375-1377)tCt>tGt	p.S459C	NEXN_ENST00000330010.8_Missense_Mutation_p.S395C|NEXN_ENST00000457030.1_Missense_Mutation_p.S445C|NEXN_ENST00000480732.2_3'UTR	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)									p.S459C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GGACAGTTGTCTGAAAAAGAA	0.338																																						uc001dic.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1375-1377)TCT>TGT		nexilin (F actin binding protein)							68.0	69.0	69.0					1																	78401632		1789	4066	5855	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78401632C>G	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1376C>G	1.37:g.78401632C>G	ENSP00000333938:p.Ser459Cys					NEXN_uc001dia.3_Missense_Mutation_p.S445C|NEXN_uc009wcb.1_Missense_Mutation_p.S381C|NEXN_uc001dib.3_Missense_Mutation_p.S395C|NEXN_uc001did.1_Missense_Mutation_p.S369C|NEXN_uc001dif.1_Missense_Mutation_p.S351C|NEXN_uc001dig.3_Missense_Mutation_p.S100C	p.S459C	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	11	1673	+			459			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.1376C>G	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.771799|4.771799	0.90108|0.90108	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000457030;ENST00000330010;ENST00000334785	.|T;T;T	.|0.61040	.|0.17;0.14;0.21	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.000000	.|0.52532	.|D	.|0.000072	T|T	0.69886|0.69886	0.3161|0.3161	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;0.999	.|D;D;D;D	.|0.66716	.|0.935;0.946;0.931;0.935	T|T	0.68443|0.68443	-0.5407|-0.5407	5|10	.|0.54805	.|T	.|0.06	-10.9851|-10.9851	20.263|20.263	0.98456|0.98456	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|395;445;459;395	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	V|C	359|445;395;459	.|ENSP00000388048:S445C;ENSP00000327363:S395C;ENSP00000333938:S459C	.|ENSP00000327363:S395C	L|S	+|+	1|2	2|0	NEXN|NEXN	78174220|78174220	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.742000|7.742000	0.85008|0.85008	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	CTG|TCT		PASS	0.338	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		23	81	23	81	---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84372075	84372075	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:84372075G>A	ENST00000260505.8	-	17	2441	c.2064C>T	c.(2062-2064)ctC>ctT	p.L688L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	688					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.L688L(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCATGTCTTTGAGAACAAATA	0.373																																						uc001djc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2062-2064)CTC>CTT		tubulin tyrosine ligase-like family, member 7							166.0	167.0	167.0					1																	84372075		2203	4300	6503	SO:0001819	synonymous_variant	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84372075G>A	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.2064C>T	1.37:g.84372075G>A						TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	p.L688L	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	17	2460	-			688					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Silent	SNP	ENST00000260505.8	37	c.2064C>T	CCDS690.2																																																																																				PASS	0.373	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		12	164	12	164	---	---	---	---
STRIP1	85369	broad.mit.edu	37	1	110592124	110592124	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:110592124C>A	ENST00000369795.3	+	17	1853	c.1831C>A	c.(1831-1833)Cct>Act	p.P611T	STRIP1_ENST00000369796.1_Missense_Mutation_p.P516T	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	611					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.P611T(1)									CAACTGCATTCCTTTGATCCT	0.468																																						uc001dza.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1831-1833)CCT>ACT		hypothetical protein LOC85369							83.0	84.0	84.0					1																	110592124		2203	4300	6503	SO:0001583	missense	85369					nucleus	protein binding	g.chr1:110592124C>A	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1831C>A	1.37:g.110592124C>A	ENSP00000358810:p.Pro611Thr					FAM40A_uc001dyz.1_Missense_Mutation_p.P516T|FAM40A_uc009wfp.1_Missense_Mutation_p.P435T	p.P611T	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)	17	1850	+		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	611					Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.1831C>A	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817602	0.90790	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.52057	0.69;0.68	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.992;0.994	T	0.75408	-0.3328	10	0.41790	T	0.15	-10.6222	19.7468	0.96255	0.0:1.0:0.0:0.0	.	516;611	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	T	516;611	ENSP00000358811:P516T;ENSP00000358810:P611T	ENSP00000358810:P611T	P	+	1	0	FAM40A	110393647	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.448000	0.80631	2.768000	0.95171	0.491000	0.48974	CCT		PASS	0.468	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		34	241	34	241	---	---	---	---
OTUD7B	56957	broad.mit.edu	37	1	149931639	149931639	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:149931639C>T	ENST00000369135.4	-	7	1103	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	OTUD7B_ENST00000479905.1_5'Flank	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	270	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R270Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TAGATGCATTCGGGGTTCACT	0.527																																						uc001etn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(808-810)CGA>CAA		zinc finger protein Cezanne							239.0	227.0	231.0					1																	149931639		1971	4176	6147	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149931639C>T	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.809G>A	1.37:g.149931639C>T	ENSP00000358131:p.Arg270Gln						p.R270Q	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		7	1165	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		270			Catalytic.|OTU.|TRAF-binding.		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.809G>A	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571108	0.96553	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.39787	1.06;1.24	5.47	5.47	0.80525	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62238	-0.6896	9	.	.	.	-18.3954	18.4869	0.90833	0.0:1.0:0.0:0.0	.	270	Q6GQQ9	OTU7B_HUMAN	Q	270	ENSP00000358131:R270Q;ENSP00000408231:R270Q	.	R	-	2	0	OTUD7B	148198263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.285000	0.78660	2.844000	0.97970	0.650000	0.86243	CGA		PASS	0.527	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		49	285	49	285	---	---	---	---
CTSS	1520	broad.mit.edu	37	1	150727507	150727507	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:150727507C>G	ENST00000368985.3	-	4	629	c.369G>C	c.(367-369)gaG>gaC	p.E123D	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	123					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.E123D(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CACACCCTTTCTCTCTCCAGT	0.428																																						uc001evn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)GAG>GAC		cathepsin S preproprotein							215.0	205.0	208.0					1																	150727507		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150727507C>G	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.369G>C	1.37:g.150727507C>G	ENSP00000357981:p.Glu123Asp					CTSS_uc010pcj.1_Intron|CTSS_uc001evo.1_Missense_Mutation_p.E123D	p.E123D	NM_004079	NP_004070	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		4	502	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		123					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.369G>C	CCDS968.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493173	0.26774	.	.	ENSG00000163131	ENST00000368985	T	0.21734	1.99	5.47	-1.47	0.08772	Peptidase C1A, papain C-terminal (2);	0.423271	0.28712	N	0.014386	T	0.03564	0.0102	N	0.17379	0.485	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30001	-0.9993	10	0.25751	T	0.34	.	8.0983	0.30842	0.0:0.3013:0.4866:0.2121	.	123	P25774	CATS_HUMAN	D	123	ENSP00000357981:E123D	ENSP00000357981:E123D	E	-	3	2	CTSS	148994131	0.013000	0.17824	0.994000	0.49952	0.918000	0.54935	-1.523000	0.02235	-0.005000	0.14395	-0.216000	0.12614	GAG		PASS	0.428	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079		71	465	71	465	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152279632	152279632	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:152279632G>C	ENST00000368799.1	-	3	7765	c.7730C>G	c.(7729-7731)tCa>tGa	p.S2577*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2577	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S2577*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGTCTTCTGAGTGTCCCTG	0.567									Ichthyosis																													uc001ezu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7729-7731)TCA>TGA		filaggrin							133.0	147.0	142.0					1																	152279632		2203	4298	6501	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279632G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7730C>G	1.37:g.152279632G>C	ENSP00000357789:p.Ser2577*						p.S2577*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7766	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2577			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.7730C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	46	12.397111	0.99664	.	.	ENSG00000143631	ENST00000368799	.	.	.	3.08	2.15	0.27550	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.2662	0.20928	0.1461:0.0:0.8539:0.0	.	.	.	.	X	2577	.	ENSP00000357789:S2577X	S	-	2	0	FLG	150546256	0.002000	0.14202	0.001000	0.08648	0.119000	0.20118	0.468000	0.22051	0.617000	0.30160	0.306000	0.20318	TCA		PASS	0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		75	657	75	657	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152280742	152280742	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:152280742C>G	ENST00000368799.1	-	3	6655	c.6620G>C	c.(6619-6621)gGg>gCg	p.G2207A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2207	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G2207A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGATGCGACCCTGAGTGCCT	0.567									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6619-6621)GGG>GCG		filaggrin							417.0	367.0	384.0					1																	152280742		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280742C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6620G>C	1.37:g.152280742C>G	ENSP00000357789:p.Gly2207Ala						p.G2207A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6656	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2207			Ser-rich.|Filaggrin 13.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6620G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	3.392	-0.124054	0.06795	.	.	ENSG00000143631	ENST00000368799	T	0.07114	3.22	2.2	1.07	0.20283	.	.	.	.	.	T	0.04363	0.0120	M	0.83852	2.665	0.09310	N	1	D	0.55172	0.97	P	0.45558	0.485	T	0.32481	-0.9905	9	0.10111	T	0.7	.	5.259	0.15563	0.3397:0.6603:0.0:0.0	.	2207	P20930	FILA_HUMAN	A	2207	ENSP00000357789:G2207A	ENSP00000357789:G2207A	G	-	2	0	FLG	150547366	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	0.045000	0.14013	1.226000	0.43582	0.485000	0.47835	GGG		PASS	0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		170	577	170	577	---	---	---	---
PYGO2	90780	broad.mit.edu	37	1	154933468	154933468	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:154933468C>G	ENST00000368457.2	-	2	309	c.138G>C	c.(136-138)agG>agC	p.R46S	RP11-307C12.12_ENST00000605085.1_RNA|SHC1_ENST00000490667.1_5'Flank|PYGO2_ENST00000368456.1_Missense_Mutation_p.R9S|PYGO2_ENST00000483463.1_5'UTR	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	46	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)	p.R46S(1)		endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TATTTGACTTCCTTCGCTTCT	0.502																																					NSCLC(87;357 1460 1955 21029 23522)	uc001fft.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(136-138)AGG>AGC		pygopus homolog 2							334.0	329.0	331.0					1																	154933468		2203	4300	6503	SO:0001583	missense	90780				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	g.chr1:154933468C>G	BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.138G>C	1.37:g.154933468C>G	ENSP00000357442:p.Arg46Ser						p.R46S	NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	344	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		46			Nuclear localization signal (Potential).|Pro-rich.		Q8WYZ4|Q96CY2	Missense_Mutation	SNP	ENST00000368457.2	37	c.138G>C	CCDS1075.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163377	0.57476	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.62941	-0.01;0.04	4.57	-4.51	0.03483	.	0.061001	0.64402	D	0.000012	T	0.45054	0.1323	L	0.34521	1.04	0.26314	N	0.977777	P	0.51653	0.947	D	0.67231	0.95	T	0.50259	-0.8849	10	0.72032	D	0.01	-8.035	6.2615	0.20903	0.0:0.2169:0.3177:0.4654	.	46	Q9BRQ0	PYGO2_HUMAN	S	46;9	ENSP00000357442:R46S;ENSP00000357441:R9S	ENSP00000357441:R9S	R	-	3	2	PYGO2	153200092	0.822000	0.29219	0.936000	0.37596	0.906000	0.53458	-0.163000	0.09997	-0.684000	0.05183	-0.678000	0.03780	AGG		PASS	0.502	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090949.1	NM_138300		46	864	46	864	---	---	---	---
CLK2	1196	broad.mit.edu	37	1	155240700	155240700	+	Silent	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:155240700C>G	ENST00000368361.4	-	2	384	c.69G>C	c.(67-69)cgG>cgC	p.R23R	CLK2_ENST00000355560.4_Silent_p.R23R|CLK2_ENST00000536801.1_Silent_p.R23R|CLK2_ENST00000361168.5_Silent_p.R23R|CLK2_ENST00000497188.1_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2	23					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R23R(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTTTCGGCTCCGATAGTGTT	0.572								Other conserved DNA damage response genes																														uc001fjy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(67-69)CGG>CGC	Other_conserved_DNA_damage_response_genes	CDC-like kinase 2							128.0	121.0	124.0					1																	155240700		2203	4300	6503	SO:0001819	synonymous_variant	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155240700C>G	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.69G>C	1.37:g.155240700C>G						RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Silent_p.R23R|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Silent_p.R23R	p.R23R	NM_003993	NP_003984	P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	359	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		23					B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	ENST00000368361.4	37	c.69G>C																																																																																					PASS	0.572	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		11	374	11	374	---	---	---	---
PEAR1	375033	broad.mit.edu	37	1	156883063	156883063	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:156883063C>T	ENST00000338302.3	+	20	2725	c.2500C>T	c.(2500-2502)Ccc>Tcc	p.P834S	PEAR1_ENST00000292357.7_Missense_Mutation_p.P834S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	834	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.P834S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAACCCCCCACCCCCTAACAA	0.607																																						uc001fqj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2500-2502)CCC>TCC		platelet endothelial aggregation receptor 1							94.0	95.0	95.0					1																	156883063		2203	4300	6503	SO:0001583	missense	375033					integral to membrane		g.chr1:156883063C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2500C>T	1.37:g.156883063C>T	ENSP00000344465:p.Pro834Ser					PEAR1_uc001fqk.1_Missense_Mutation_p.P459S	p.P834S	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			19	2616	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		834			Pro-rich.		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	c.2500C>T	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231352	0.58777	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	D;D	0.88431	-2.38;-2.38	5.41	5.41	0.78517	.	0.000000	0.46442	D	0.000285	T	0.78799	0.4340	L	0.59436	1.845	0.52501	D	0.999958	B	0.26744	0.158	B	0.19946	0.027	T	0.75950	-0.3137	10	0.08599	T	0.76	.	16.7426	0.85463	0.0:1.0:0.0:0.0	.	834	Q5VY43	PEAR1_HUMAN	S	834	ENSP00000344465:P834S;ENSP00000292357:P834S	ENSP00000292357:P834S	P	+	1	0	PEAR1	155149687	0.849000	0.29639	0.968000	0.41197	0.481000	0.33189	2.358000	0.44134	2.816000	0.96949	0.563000	0.77884	CCC		PASS	0.607	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		41	354	41	354	---	---	---	---
PEAR1	375033	broad.mit.edu	37	1	156883186	156883186	+	Missense_Mutation	SNP	C	C	G	rs147076416|rs377511638	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:156883186C>G	ENST00000338302.3	+	21	2740	c.2515C>G	c.(2515-2517)Cca>Gca	p.P839A	PEAR1_ENST00000292357.7_Missense_Mutation_p.P839A			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	839	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.P839A(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCTTAGGTTCCAGGCCCGCT	0.642																																						uc001fqj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2515-2517)CCA>GCA		platelet endothelial aggregation receptor 1							49.0	53.0	52.0					1																	156883186		2194	4300	6494	SO:0001583	missense	375033					integral to membrane		g.chr1:156883186C>G	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2515C>G	1.37:g.156883186C>G	ENSP00000344465:p.Pro839Ala					PEAR1_uc001fqk.1_Missense_Mutation_p.P464A	p.P839A	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			20	2631	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		839			Pro-rich.		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	c.2515C>G	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803703	0.50315	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	D;D	0.87887	-2.31;-2.31	5.65	4.74	0.60224	.	0.000000	0.47852	D	0.000216	T	0.65026	0.2652	L	0.41236	1.265	0.28065	N	0.932794	B	0.21520	0.057	B	0.19946	0.027	T	0.48490	-0.9031	10	0.08837	T	0.75	.	9.5284	0.39178	0.0:0.9064:0.0:0.0936	.	839	Q5VY43	PEAR1_HUMAN	A	839	ENSP00000344465:P839A;ENSP00000292357:P839A	ENSP00000292357:P839A	P	+	1	0	PEAR1	155149810	0.434000	0.25570	0.994000	0.49952	0.278000	0.26855	1.221000	0.32503	2.663000	0.90544	0.563000	0.77884	CCA		PASS	0.642	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		50	235	50	235	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157504602	157504602	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:157504602C>G	ENST00000361835.3	-	8	1640	c.1483G>C	c.(1483-1485)Gaa>Caa	p.E495Q	FCRL5_ENST00000368189.3_Missense_Mutation_p.E495Q|FCRL5_ENST00000368190.3_Missense_Mutation_p.E495Q|FCRL5_ENST00000368191.3_Missense_Mutation_p.E410Q|FCRL5_ENST00000356953.4_Missense_Mutation_p.E495Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	495	Ig-like C2-type 5.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.E495Q(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTCTGGACTTCACAGTGAAGT	0.517																																						uc001fqu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(1483-1485)GAA>CAA		Fc receptor-like 5							54.0	52.0	53.0					1																	157504602		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157504602C>G	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1483G>C	1.37:g.157504602C>G	ENSP00000354691:p.Glu495Gln					FCRL5_uc009wsm.2_Missense_Mutation_p.E495Q|FCRL5_uc010phv.1_Missense_Mutation_p.E495Q|FCRL5_uc010phw.1_Missense_Mutation_p.E410Q|FCRL5_uc001fqv.1_Missense_Mutation_p.E495Q|FCRL5_uc010phx.1_Missense_Mutation_p.E246Q	p.E495Q	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			8	1641	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	495			Extracellular (Potential).|Ig-like C2-type 5.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1483G>C	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	7.207	0.594691	0.13875	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	3.34	-1.16	0.09678	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.09512	0.0234	M	0.64170	1.965	0.09310	N	1	D;P;D;D;D;D	0.89917	0.998;0.832;0.985;1.0;0.959;1.0	D;B;P;D;P;D	0.97110	0.966;0.426;0.828;1.0;0.749;0.999	T	0.13045	-1.0524	9	0.25751	T	0.34	.	3.7068	0.08404	0.0:0.4569:0.1876:0.3554	.	526;410;495;495;495;495	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	Q	495;495;495;410;495	ENSP00000354691:E495Q;ENSP00000349434:E495Q;ENSP00000357173:E495Q;ENSP00000357174:E410Q;ENSP00000357172:E495Q	ENSP00000349434:E495Q	E	-	1	0	FCRL5	155771226	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-1.594000	0.02094	-0.362000	0.08113	0.313000	0.20887	GAA		PASS	0.517	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		30	80	30	80	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158606445	158606445	+	Missense_Mutation	SNP	C	C	T	rs369304211		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:158606445C>T	ENST00000368147.4	-	37	5476	c.5296G>A	c.(5296-5298)Gag>Aag	p.E1766K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1766					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E1766K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATGGCAGGCTCATGGGCCACC	0.473																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5296-5298)GAG>AAG		spectrin, alpha, erythrocytic 1		C	LYS/GLU	0,3748		0,0,1874	96.0	95.0	96.0		5296	5.3	1.0	1		96	1,8211		0,1,4105	no	missense	SPTA1	NM_003126.2	56	0,1,5979	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	1766/2420	158606445	1,11959	1874	4106	5980	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158606445C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5296G>A	1.37:g.158606445C>T	ENSP00000357129:p.Glu1766Lys						p.E1766K	NM_003126	NP_003117	P02549	SPTA1_HUMAN			37	5495	-	all_hematologic(112;0.0378)		1766			Spectrin 17.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5296G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716791	0.89205	0.0	1.22E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50001	0.76;0.76	5.27	5.27	0.74061	.	.	.	.	.	T	0.61048	0.2316	M	0.74647	2.275	0.58432	D	0.999995	D	0.58620	0.983	D	0.68943	0.961	T	0.59563	-0.7431	9	0.44086	T	0.13	.	15.7602	0.78073	0.0:1.0:0.0:0.0	.	1766	P02549	SPTA1_HUMAN	K	1766	ENSP00000357130:E1766K;ENSP00000357129:E1766K	ENSP00000357129:E1766K	E	-	1	0	SPTA1	156873069	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	6.793000	0.75130	2.748000	0.94277	0.655000	0.94253	GAG		PASS	0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		9	197	9	197	---	---	---	---
PYHIN1	149628	broad.mit.edu	37	1	158913720	158913720	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:158913720G>C	ENST00000368140.1	+	6	1388	c.1143G>C	c.(1141-1143)aaG>aaC	p.K381N	PYHIN1_ENST00000392254.2_Missense_Mutation_p.K381N|PYHIN1_ENST00000368138.3_Missense_Mutation_p.K372N|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.K372N	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	381	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.K381N(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GACTGAGAAAGAGGGAAAATA	0.358																																						uc001ftb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1141-1143)AAG>AAC		pyrin and HIN domain family, member 1 alpha 1							78.0	80.0	79.0					1																	158913720		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158913720G>C	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1143G>C	1.37:g.158913720G>C	ENSP00000357122:p.Lys381Asn					PYHIN1_uc001ftc.2_Missense_Mutation_p.K372N|PYHIN1_uc001ftd.2_Missense_Mutation_p.K381N|PYHIN1_uc001fte.2_Missense_Mutation_p.K372N	p.K381N	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			6	1388	+	all_hematologic(112;0.0378)		381			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1143G>C	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	6.203	0.405595	0.11754	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	2.98	-1.2	0.09554	HIN-200/IF120x (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.07007	0.0178	L	0.44542	1.39	0.09310	N	1	P;P;P;P	0.40000	0.698;0.558;0.698;0.572	B;B;B;B	0.39935	0.231;0.314;0.231;0.11	T	0.22906	-1.0203	9	0.40728	T	0.16	.	2.1601	0.03822	0.4298:0.0:0.3264:0.2438	.	372;381;372;381	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	N	381;372;381;372	ENSP00000357122:K381N;ENSP00000357120:K372N;ENSP00000376083:K381N;ENSP00000376082:K372N	ENSP00000357120:K372N	K	+	3	2	PYHIN1	157180344	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.536000	0.02208	-0.018000	0.14079	-0.302000	0.09304	AAG		PASS	0.358	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		23	149	23	149	---	---	---	---
ADAMTS4	9507	broad.mit.edu	37	1	161166625	161166625	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:161166625C>G	ENST00000367996.5	-	2	1107	c.679G>C	c.(679-681)Gat>Cat	p.D227H	ADAMTS4_ENST00000478394.1_5'Flank|NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000367995.3_Missense_Mutation_p.D227H	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	227	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.D227H(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	ATCTTGTCATCTGCCACCACC	0.542																																						uc001fyt.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(679-681)GAT>CAT		ADAM metallopeptidase with thrombospondin type 1							186.0	184.0	185.0					1																	161166625		2203	4300	6503	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161166625C>G	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.679G>C	1.37:g.161166625C>G	ENSP00000356975:p.Asp227His					ADAMTS4_uc001fyu.2_Missense_Mutation_p.D227H|NDUFS2_uc001fyv.2_5'Flank	p.D227H	NM_005099	NP_005090	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		2	1107	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		227			Peptidase M12B.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.679G>C	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269808	0.80469	.	.	ENSG00000158859	ENST00000367996;ENST00000367995	D;D	0.95482	-3.72;-3.72	4.64	4.64	0.57946	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.177470	0.37012	N	0.002295	D	0.98378	0.9461	H	0.95816	3.725	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.99564	1.0969	10	0.87932	D	0	.	16.5111	0.84286	0.0:1.0:0.0:0.0	.	227;227	Q5VTW1;O75173	.;ATS4_HUMAN	H	227	ENSP00000356975:D227H;ENSP00000356974:D227H	ENSP00000356974:D227H	D	-	1	0	ADAMTS4	159433249	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.612000	0.82975	2.418000	0.82041	0.650000	0.86243	GAT		PASS	0.542	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		224	614	224	614	---	---	---	---
RXRG	6258	broad.mit.edu	37	1	165397991	165397991	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:165397991G>C	ENST00000359842.5	-	2	564	c.262C>G	c.(262-264)Cca>Gca	p.P88A		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	88	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.P88A(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TTGATTCCTGGAGGCGCTGCA	0.587																																						uc001gda.2																			1	Substitution - Missense(1)		lung(1)		0						c.(262-264)CCA>GCA		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						53.0	59.0	57.0					1																	165397991		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165397991G>C	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.262C>G	1.37:g.165397991G>C	ENSP00000352900:p.Pro88Ala						p.P88A	NM_006917	NP_008848	P48443	RXRG_HUMAN			2	562	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		88			Modulating (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.262C>G	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282347	0.40394	.	.	ENSG00000143171	ENST00000359842	D	0.92397	-3.03	4.71	2.83	0.33086	.	0.892994	0.09874	N	0.744570	D	0.83760	0.5324	M	0.64080	1.96	0.37949	D	0.932607	P	0.34462	0.454	B	0.38156	0.266	T	0.74881	-0.3513	9	0.46703	T	0.11	.	4.2525	0.10702	0.086:0.1574:0.594:0.1626	.	88	P48443	RXRG_HUMAN	A	88	ENSP00000352900:P88A	ENSP00000352900:P88A	P	-	1	0	RXRG	163664615	1.000000	0.71417	0.986000	0.45419	0.299000	0.27559	4.690000	0.61731	0.585000	0.29608	0.561000	0.74099	CCA		PASS	0.587	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		53	109	53	109	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181479628	181479628	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:181479628G>A	ENST00000367573.2	+	2	282	c.282G>A	c.(280-282)atG>atA	p.M94I	CACNA1E_ENST00000360108.3_Missense_Mutation_p.M94I|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.M94I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.M94I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.M45I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M45I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	94					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.M94I(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGAGTACATGATCCTGGCCA	0.522																																						uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(280-282)ATG>ATA		calcium channel, voltage-dependent, R type,							132.0	128.0	130.0					1																	181479628		2118	4230	6348	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181479628G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.282G>A	1.37:g.181479628G>A	ENSP00000356545:p.Met94Ile					CACNA1E_uc009wxr.2_Missense_Mutation_p.M1I|CACNA1E_uc009wxs.2_Missense_Mutation_p.M1I	p.M94I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			2	447	+			94			I.|Helical; Name=S1 of repeat I.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.282G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962422	0.74016	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.42	5.42	0.78866	.	0.129366	0.64402	D	0.000001	T	0.49847	0.1581	L	0.46567	1.45	0.80722	D	1	B;B	0.33807	0.426;0.426	B;B	0.32090	0.14;0.14	T	0.53940	-0.8367	10	0.66056	D	0.02	.	18.8037	0.92028	0.0:0.0:1.0:0.0	.	94;94	Q15878-2;Q15878-3	.;.	I	94;94;94;45;45;94;94	ENSP00000432038:M94I;ENSP00000356542:M94I;ENSP00000434814:M94I;ENSP00000350183:M45I;ENSP00000351101:M45I;ENSP00000353222:M94I;ENSP00000356545:M94I	ENSP00000350183:M45I	M	+	3	0	CACNA1E	179746251	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.726000	0.98782	2.525000	0.85131	0.561000	0.74099	ATG		PASS	0.522	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		19	99	19	99	---	---	---	---
RGL1	23179	broad.mit.edu	37	1	183866988	183866988	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:183866988A>G	ENST00000360851.3	+	10	1365	c.1187A>G	c.(1186-1188)aAc>aGc	p.N396S	RGL1_ENST00000539189.1_Missense_Mutation_p.N396S|RGL1_ENST00000536277.1_Missense_Mutation_p.N394S|RGL1_ENST00000304685.4_Missense_Mutation_p.N431S			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	396	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.N431S(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GTGAAAGAAAACCAGAAGCGT	0.517																																						uc001gqo.2																			1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(4)|lung(2)	11						c.(1186-1188)AAC>AGC		ral guanine nucleotide dissociation							90.0	90.0	90.0					1																	183866988		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183866988A>G	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1187A>G	1.37:g.183866988A>G	ENSP00000354097:p.Asn396Ser					RGL1_uc010pof.1_Missense_Mutation_p.N201S|RGL1_uc001gqm.2_Missense_Mutation_p.N431S|RGL1_uc010pog.1_Missense_Mutation_p.N394S|RGL1_uc010poh.1_Missense_Mutation_p.N394S|RGL1_uc010poi.1_Missense_Mutation_p.N396S	p.N396S	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			10	1344	+			396			Ras-GEF.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.1187A>G		.	.	.	.	.	.	.	.	.	.	A	13.98	2.397670	0.42512	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.51574	0.7;0.7;0.73;0.71;0.83	5.34	5.34	0.76211	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.052686	0.85682	D	0.000000	T	0.48995	0.1531	M	0.70787	2.145	0.48040	D	0.999572	B;B;B;B;B	0.26445	0.123;0.149;0.097;0.149;0.149	B;B;B;B;B	0.28849	0.057;0.095;0.059;0.056;0.095	T	0.44682	-0.9312	10	0.21014	T	0.42	.	15.304	0.73979	1.0:0.0:0.0:0.0	.	396;394;201;396;431	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	S	431;431;394;201;396;396	ENSP00000303192:N431S;ENSP00000356501:N431S;ENSP00000438662:N394S;ENSP00000354097:N396S;ENSP00000437355:N396S	ENSP00000303192:N431S	N	+	2	0	RGL1	182133611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.249000	0.78278	2.019000	0.59389	0.533000	0.62120	AAC		PASS	0.517	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		25	60	25	60	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185934984	185934984	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:185934984G>A	ENST00000271588.4	+	14	2378	c.2149G>A	c.(2149-2151)Gat>Aat	p.D717N	HMCN1_ENST00000367492.2_Missense_Mutation_p.D717N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	717	Ig-like C2-type 4.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.D717N(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGCCCTTGGGGATATAACCGT	0.398																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(2149-2151)GAT>AAT		hemicentin 1 precursor							191.0	178.0	182.0					1																	185934984		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185934984G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2149G>A	1.37:g.185934984G>A	ENSP00000271588:p.Asp717Asn					HMCN1_uc001grr.1_Missense_Mutation_p.D58N	p.D717N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			14	2378	+			717			Ig-like C2-type 4.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.2149G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808592	0.70797	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.30981	1.51;1.51	5.7	5.7	0.88788	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.208140	0.49916	D	0.000137	T	0.42607	0.1210	L	0.38649	1.16	0.35848	D	0.826556	D;D	0.65815	0.962;0.995	P;D	0.68039	0.528;0.955	T	0.36553	-0.9743	10	0.23302	T	0.38	.	14.6544	0.68823	0.0:0.0:0.8547:0.1453	.	101;717	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	N	717	ENSP00000271588:D717N;ENSP00000356462:D717N	ENSP00000271588:D717N	D	+	1	0	HMCN1	184201607	1.000000	0.71417	0.998000	0.56505	0.662000	0.39071	4.678000	0.61641	2.683000	0.91414	0.655000	0.94253	GAT		PASS	0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		25	171	25	171	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190423988	190423988	+	Missense_Mutation	SNP	C	C	A	rs527770000		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:190423988C>A	ENST00000367462.3	-	2	264	c.33G>T	c.(31-33)ttG>ttT	p.L11F	BRINP3_ENST00000534846.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	11					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.L11F(1)									TCAGAGAGAACAATTCAGCAC	0.498																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(31-33)TTG>TTT		family with sequence similarity 5, member C							80.0	80.0	80.0					1																	190423988		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190423988C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.33G>T	1.37:g.190423988C>A	ENSP00000356432:p.Leu11Phe					FAM5C_uc010pot.1_5'UTR	p.L11F	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			2	265	-	Prostate(682;0.198)		11					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.33G>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238353	0.22711	.	.	ENSG00000162670	ENST00000367462;ENST00000445957	T;T	0.48836	2.4;0.8	5.57	2.63	0.31362	.	0.324485	0.26289	N	0.025233	T	0.32496	0.0831	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06588	-1.0818	10	0.22109	T	0.4	.	9.1108	0.36725	0.0:0.6438:0.2791:0.077	.	11	Q76B58	FAM5C_HUMAN	F	11	ENSP00000356432:L11F;ENSP00000393441:L11F	ENSP00000356432:L11F	L	-	3	2	FAM5C	188690611	0.988000	0.35896	0.965000	0.40720	0.631000	0.37964	0.886000	0.28241	0.289000	0.22422	-0.136000	0.14681	TTG		PASS	0.498	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		15	53	15	53	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196398851	196398851	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:196398851C>A	ENST00000294725.9	-	9	1590	c.675G>T	c.(673-675)aaG>aaT	p.K225N	KCNT2_ENST00000609185.1_Missense_Mutation_p.K225N|KCNT2_ENST00000367433.5_Missense_Mutation_p.K225N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.K225N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	225					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.K225N(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GATTCAGCTTCTTTCCTATTC	0.383																																						uc001gtd.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(673-675)AAG>AAT		potassium channel, subfamily T, member 2							86.0	78.0	81.0					1																	196398851		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196398851C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.675G>T	1.37:g.196398851C>A	ENSP00000294725:p.Lys225Asn					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.K225N|KCNT2_uc001gtf.1_Missense_Mutation_p.K225N|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.K225N|KCNT2_uc009wyv.1_Missense_Mutation_p.K200N	p.K225N	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			9	735	-			225			Extracellular (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.675G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404648	0.25378	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.30714	1.52;1.52;1.52	5.31	4.33	0.51752	Ion transport 2 (1);	0.104281	0.42420	D	0.000716	T	0.15478	0.0373	N	0.11064	0.09	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.002;0.001;0.003	T	0.06320	-1.0833	10	0.34782	T	0.22	-20.3842	8.7593	0.34665	0.1315:0.6036:0.2649:0.0	.	225;225;225;225	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	N	225;225;46;225	ENSP00000356403:K225N;ENSP00000356401:K225N;ENSP00000294725:K225N	ENSP00000294725:K225N	K	-	3	2	KCNT2	194665474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.900000	0.28431	2.487000	0.83934	0.655000	0.94253	AAG		PASS	0.383	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		12	63	12	63	---	---	---	---
DDX59	83479	broad.mit.edu	37	1	200617581	200617581	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:200617581C>T	ENST00000331314.6	-	7	1795	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	DDX59_ENST00000367348.3_Missense_Mutation_p.E528K|DDX59_ENST00000447706.2_Missense_Mutation_p.E528K	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	528	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.E528K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TGGACATACTCATCCATACTT	0.403																																						uc009wzk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1582-1584)GAG>AAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							148.0	133.0	138.0					1																	200617581		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200617581C>T	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1582G>A	1.37:g.200617581C>T	ENSP00000330460:p.Glu528Lys					DDX59_uc010ppl.1_Missense_Mutation_p.E528K	p.E528K	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN			7	1825	-			528			Helicase C-terminal.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.1582G>A	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053951	0.93793	.	.	ENSG00000118197	ENST00000447706;ENST00000413408;ENST00000367348;ENST00000367346;ENST00000331314;ENST00000433235	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.41	4.49	0.54785	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	M	0.64260	1.97	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.989;0.992	D	0.84625	0.0686	10	0.72032	D	0.01	-38.7059	13.5441	0.61693	0.0:0.9252:0.0:0.0748	.	528;528	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	K	528;166;528;114;528;171	ENSP00000394367:E528K;ENSP00000394304:E166K;ENSP00000356317:E528K;ENSP00000330460:E528K;ENSP00000409954:E171K	ENSP00000330460:E528K	E	-	1	0	DDX59	198884204	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.066000	0.71185	2.529000	0.85273	0.579000	0.79373	GAG		PASS	0.403	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		10	205	10	205	---	---	---	---
TNNT2	7139	broad.mit.edu	37	1	201334331	201334331	+	Silent	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:201334331G>C	ENST00000509001.1	-	9	655	c.369C>G	c.(367-369)ctC>ctG	p.L123L	TNNT2_ENST00000360372.4_Silent_p.L118L|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000367318.5_Silent_p.L123L|TNNT2_ENST00000421663.2_Silent_p.L125L|TNNT2_ENST00000367317.4_Silent_p.L123L|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000236918.7_Silent_p.L128L|TNNT2_ENST00000367322.1_Silent_p.L123L|TNNT2_ENST00000367315.2_Silent_p.L123L|TNNT2_ENST00000458432.2_Silent_p.L135L	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	133					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)	p.L123L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCCTGTCTTTGAGAGAAACGA	0.552																																						uc001gwf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(397-399)CTC>CTG		troponin T type 2, cardiac isoform 1							201.0	172.0	181.0					1																	201334331		2203	4300	6503	SO:0001819	synonymous_variant	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201334331G>C	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.369C>G	1.37:g.201334331G>C						TNNT2_uc001gwg.2_Silent_p.L123L|TNNT2_uc001gwh.2_Silent_p.L118L|TNNT2_uc001gwi.2_Intron|TNNT2_uc009wzr.2_Silent_p.L64L|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Silent_p.L98L|TNNT2_uc001gwk.1_Silent_p.L64L|TNNT2_uc009wzt.1_Silent_p.L123L	p.L133L	NM_000364	NP_000355	P45379	TNNT2_HUMAN			10	468	-			133					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Silent	SNP	ENST00000509001.1	37	c.399C>G	CCDS30969.1																																																																																				PASS	0.552	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		23	517	23	517	---	---	---	---
SLC26A9	115019	broad.mit.edu	37	1	205896719	205896719	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:205896719G>A	ENST00000367135.3	-	10	1229	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	SLC26A9_ENST00000367134.2_Silent_p.L372L|SLC26A9_ENST00000340781.4_Silent_p.L372L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	372					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)	p.L372L(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGCTGCAGCCGAGAGCGATCA	0.557																																						uc001hdq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1114-1116)CTC>CTT		solute carrier family 26, member 9 isoform a							56.0	56.0	56.0					1																	205896719		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205896719G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1116C>T	1.37:g.205896719G>A						SLC26A9_uc001hdo.2_Silent_p.L40L|SLC26A9_uc001hdp.2_Silent_p.L372L	p.L372L	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		10	1230	-	Breast(84;0.201)		372					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.1116C>T	CCDS30990.1																																																																																				PASS	0.557	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		15	47	15	47	---	---	---	---
EIF2D	1939	broad.mit.edu	37	1	206784717	206784717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:206784717G>A	ENST00000271764.2	-	2	275	c.67C>T	c.(67-69)Cga>Tga	p.R23*	EIF2D_ENST00000367114.3_Nonsense_Mutation_p.R23*	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	23					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)	p.R23*(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ACATCAGCTCGAAGCTTTCTC	0.438																																						uc001heh.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(67-69)CGA>TGA		ligatin							84.0	74.0	77.0					1																	206784717		2203	4300	6503	SO:0001587	stop_gained	1939				intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity	g.chr1:206784717G>A	BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.67C>T	1.37:g.206784717G>A	ENSP00000271764:p.Arg23*					LGTN_uc009xbw.2_Nonsense_Mutation_p.R23*|LGTN_uc010prw.1_Nonsense_Mutation_p.R23*	p.R23*	NM_006893	NP_008824	P41214	EIF2D_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		2	276	-	Breast(84;0.183)		23					Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Nonsense_Mutation	SNP	ENST00000271764.2	37	c.67C>T	CCDS1465.1	.	.	.	.	.	.	.	.	.	.	G	38	6.825460	0.97865	.	.	ENSG00000143486	ENST00000367114;ENST00000271764;ENST00000367111;ENST00000437518	.	.	.	5.99	5.99	0.97316	.	0.127979	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.9062	19.1338	0.93418	0.0:0.0:1.0:0.0	.	.	.	.	X	23	.	ENSP00000271764:R23X	R	-	1	2	EIF2D	204851340	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.463000	0.66712	2.864000	0.98301	0.552000	0.68991	CGA		PASS	0.438	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088475.1	NM_006893		16	99	16	99	---	---	---	---
TGFB2	7042	broad.mit.edu	37	1	218520311	218520311	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:218520311G>A	ENST00000366930.4	+	1	735	c.268G>A	c.(268-270)Gag>Aag	p.E90K	TGFB2_ENST00000366929.4_Missense_Mutation_p.E90K|RP11-224O19.2_ENST00000414452.1_RNA	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	90					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.E90K(2)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GGCCGCCTGCGAGCGCGAGAG	0.572																																						uc001hlm.2																			2	Substitution - Missense(2)		lung(2)		0						c.(268-270)GAG>AAG		transforming growth factor, beta 2 isoform 2							23.0	21.0	22.0					1																	218520311		2200	4293	6493	SO:0001583	missense	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218520311G>A	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.268G>A	1.37:g.218520311G>A	ENSP00000355897:p.Glu90Lys					TGFB2_uc001hll.2_Missense_Mutation_p.E90K|TGFB2_uc001hln.2_Missense_Mutation_p.E90K|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	p.E90K	NM_003238	NP_003229	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	1	921	+			90					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	c.268G>A	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	G	35	5.447175	0.96205	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.66638	-0.22;-0.22	5.45	5.45	0.79879	Transforming growth factor-beta, N-terminal (1);	0.099122	0.64402	D	0.000002	T	0.75583	0.3869	L	0.48362	1.52	0.80722	D	1	P;P;D	0.76494	0.928;0.869;0.999	P;B;D	0.65874	0.473;0.313;0.939	T	0.68108	-0.5496	10	0.19147	T	0.46	.	19.4714	0.94965	0.0:0.0:1.0:0.0	.	90;90;91	P61812-2;P61812;Q59EG9	.;TGFB2_HUMAN;.	K	90	ENSP00000355897:E90K;ENSP00000355896:E90K	ENSP00000355896:E90K	E	+	1	0	TGFB2	216586934	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.620000	0.98373	2.837000	0.97791	0.591000	0.81541	GAG		PASS	0.572	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		6	31	6	31	---	---	---	---
HLX	3142	broad.mit.edu	37	1	221053402	221053402	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:221053402C>T	ENST00000366903.6	+	1	1704	c.203C>T	c.(202-204)tCg>tTg	p.S68L	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_5'Flank	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	68					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S68L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GCAGGGGCCTCGGCCGCCGCC	0.731																																						uc001hmv.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(202-204)TCG>TTG		H2.0-like homeobox							5.0	6.0	6.0					1																	221053402		1769	3782	5551	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221053402C>T	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.203C>T	1.37:g.221053402C>T	ENSP00000355870:p.Ser68Leu						p.S68L	NM_021958	NP_068777	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	1	660	+			68					B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.203C>T	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925193	0.92319	.	.	ENSG00000136630	ENST00000366903	T	0.35421	1.31	4.65	4.65	0.58169	.	0.000000	0.52532	D	0.000073	T	0.41789	0.1174	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.55965	0.788	T	0.31752	-0.9932	10	0.56958	D	0.05	-13.5171	15.3861	0.74703	0.0:1.0:0.0:0.0	.	68	Q14774	HLX_HUMAN	L	68	ENSP00000355870:S68L	ENSP00000355870:S68L	S	+	2	0	HLX	219120025	0.998000	0.40836	0.999000	0.59377	0.782000	0.44232	3.945000	0.56637	2.570000	0.86706	0.585000	0.79938	TCG		PASS	0.731	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		5	7	5	7	---	---	---	---
CAPN2	824	broad.mit.edu	37	1	223958166	223958166	+	Silent	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:223958166C>A	ENST00000295006.5	+	18	2151	c.1842C>A	c.(1840-1842)atC>atA	p.I614I	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.I536I	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	614	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)	p.I614I(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		ACCGAGAAATCGACGTTGACA	0.418																																						uc001hob.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|breast(1)|skin(1)	5						c.(1840-1842)ATC>ATA		calpain 2 isoform 1							81.0	74.0	76.0					1																	223958166		2203	4300	6503	SO:0001819	synonymous_variant	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223958166C>A	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1842C>A	1.37:g.223958166C>A						CAPN2_uc010puy.1_Silent_p.I536I|CAPN2_uc001hoc.2_Silent_p.I195I	p.I614I	NM_001748	NP_001739	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	18	2066	+			614			Domain IV.|EF-hand 2.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	ENST00000295006.5	37	c.1842C>A	CCDS31035.1																																																																																				PASS	0.418	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		32	64	32	64	---	---	---	---
NVL	4931	broad.mit.edu	37	1	224514112	224514112	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:224514112C>G	ENST00000281701.6	-	2	371	c.112G>C	c.(112-114)Gat>Cat	p.D38H	NVL_ENST00000468673.1_5'UTR|NVL_ENST00000469075.1_Missense_Mutation_p.D38H|NVL_ENST00000340871.4_Intron|NVL_ENST00000361463.3_Intron|NVL_ENST00000482491.1_Intron|NVL_ENST00000391875.2_Intron	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	38						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.D38H(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTTTGTAAATCAGACGCTAAG	0.318																																						uc001hok.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(112-114)GAT>CAT		nuclear VCP-like isoform 1							100.0	102.0	101.0					1																	224514112		2203	4300	6503	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224514112C>G	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.112G>C	1.37:g.224514112C>G	ENSP00000281701:p.Asp38His					NVL_uc001hol.2_Intron|NVL_uc010pvd.1_Missense_Mutation_p.D38H|NVL_uc010pve.1_Intron|NVL_uc010pvf.1_Intron|NVL_uc010pvg.1_Missense_Mutation_p.D38H	p.D38H	NM_002533	NP_002524	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	2	155	-			38					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.112G>C	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919339	0.73098	.	.	ENSG00000143748	ENST00000281701;ENST00000469075;ENST00000488718;ENST00000461546	D;D	0.95137	-3.57;-3.62	5.91	4.99	0.66335	.	0.056445	0.64402	D	0.000002	D	0.96390	0.8822	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.988	D;P;P	0.76575	0.988;0.84;0.808	D	0.95940	0.8946	10	0.59425	D	0.04	-22.6247	13.6855	0.62513	0.0:0.9278:0.0:0.0722	.	38;38;38	B4DF43;B4DP98;O15381	.;.;NVL_HUMAN	H	38	ENSP00000281701:D38H;ENSP00000417826:D38H	ENSP00000281701:D38H	D	-	1	0	NVL	222580735	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.262000	0.51538	2.802000	0.96397	0.655000	0.94253	GAT		PASS	0.318	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		24	177	24	177	---	---	---	---
GJC2	57165	broad.mit.edu	37	1	228345525	228345525	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:228345525C>T	ENST00000366714.2	+	2	241	c.66C>T	c.(64-66)ttC>ttT	p.F22F		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	22					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)	p.F22F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				ACTCCACCTTCGTGGGCAAGG	0.652																																						uc001hsk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(64-66)TTC>TTT		gap junction protein, gamma 2, 47kDa							48.0	31.0	37.0					1																	228345525		2197	4296	6493	SO:0001819	synonymous_variant	57165				cell death	connexon complex|integral to membrane		g.chr1:228345525C>T	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.66C>T	1.37:g.228345525C>T							p.F22F	NM_020435	NP_065168	Q5T442	CXG2_HUMAN			2	241	+		Prostate(94;0.0405)	22			Cytoplasmic (Potential).		O43440|Q7Z7J2|Q8IWJ9	Silent	SNP	ENST00000366714.2	37	c.66C>T	CCDS1569.1																																																																																				PASS	0.652	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435		5	12	5	12	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237758861	237758861	+	Silent	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:237758861C>G	ENST00000366574.2	+	34	4817	c.4500C>G	c.(4498-4500)cgC>cgG	p.R1500R	RYR2_ENST00000360064.6_Silent_p.R1498R|RYR2_ENST00000542537.1_Silent_p.R1484R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1500	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R1498R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCAAGGACGCAACAATAATG	0.483																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4498-4500)CGC>CGG		cardiac muscle ryanodine receptor							92.0	100.0	97.0					1																	237758861		2108	4229	6337	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237758861C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4500C>G	1.37:g.237758861C>G							p.R1500R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		34	4620	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1500			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.4500C>G	CCDS55691.1																																																																																				PASS	0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	61	18	61	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237944913	237944913	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:237944913G>C	ENST00000366574.2	+	89	12246	c.11929G>C	c.(11929-11931)Gat>Cat	p.D3977H	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.D3983H|RYR2_ENST00000542537.1_Missense_Mutation_p.D3961H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3977					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.D3975H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGCAGAAGGATATGGTGGT	0.328																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11929-11931)GAT>CAT		cardiac muscle ryanodine receptor							125.0	121.0	122.0					1																	237944913		1914	4173	6087	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237944913G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11929G>C	1.37:g.237944913G>C	ENSP00000355533:p.Asp3977His					RYR2_uc010pya.1_Missense_Mutation_p.D392H	p.D3977H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		89	12049	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3977					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11929G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869554	0.91587	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97114	-4.25;-4.22;-4.24	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000008	D	0.98239	0.9417	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	D	0.99157	1.0860	10	0.87932	D	0	-18.7709	19.7167	0.96124	0.0:0.0:1.0:0.0	.	951;3977	B4DGV4;Q92736	.;RYR2_HUMAN	H	3977;3983;3961;951	ENSP00000355533:D3977H;ENSP00000353174:D3983H;ENSP00000443798:D3961H	ENSP00000353174:D3983H	D	+	1	0	RYR2	236011536	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.667000	0.90743	0.655000	0.94253	GAT		PASS	0.328	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	10	4	10	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240286514	240286514	+	Missense_Mutation	SNP	G	G	A	rs370593818		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:240286514G>A	ENST00000319653.9	+	2	1881	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	551					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.E694K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGCCAGCAGGAGAACGGGCC	0.532																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1651-1653)GAG>AAG		formin 2							115.0	105.0	109.0					1																	240286514		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240286514G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1651G>A	1.37:g.240286514G>A	ENSP00000318884:p.Glu551Lys					FMN2_uc010pye.1_Missense_Mutation_p.E551K	p.E551K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		2	1876	+	Ovarian(103;0.127)	all_cancers(173;0.013)	551					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1651G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764844	0.49574	.	.	ENSG00000155816	ENST00000319653	T	0.78595	-1.19	5.5	5.5	0.81552	DEP domain (1);	0.080429	0.51477	D	0.000083	T	0.65770	0.2723	L	0.42245	1.32	0.80722	D	1	P	0.43750	0.816	B	0.32762	0.152	T	0.66348	-0.5946	10	0.29301	T	0.29	.	13.0365	0.58875	0.0742:0.0:0.9258:0.0	.	551	Q9NZ56	FMN2_HUMAN	K	551	ENSP00000318884:E551K	ENSP00000318884:E551K	E	+	1	0	FMN2	238353137	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.240000	0.58701	2.744000	0.94065	0.591000	0.81541	GAG		PASS	0.532	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		43	190	43	190	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240371515	240371515	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:240371515C>G	ENST00000319653.9	+	5	3633	c.3403C>G	c.(3403-3405)Ctt>Gtt	p.L1135V		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1135	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.L1278V(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCTCCCCCTCTTCCCGGAGC	0.706																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(3403-3405)CTT>GTT		formin 2							6.0	8.0	7.0					1																	240371515		2068	4077	6145	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371515C>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3403C>G	1.37:g.240371515C>G	ENSP00000318884:p.Leu1135Val					FMN2_uc010pye.1_Missense_Mutation_p.L1139V	p.L1135V	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3628	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1135			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3403C>G	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	c	8.743	0.919392	0.17982	.	.	ENSG00000155816	ENST00000319653	T	0.63255	-0.03	3.08	3.08	0.35506	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (3);	1.661710	0.04634	U	0.404230	T	0.78078	0.4227	M	0.79805	2.47	0.80722	D	1	D	0.63046	0.992	P	0.57244	0.816	T	0.70223	-0.4931	9	.	.	.	.	11.9468	0.52932	0.0:1.0:0.0:0.0	.	1135	Q9NZ56	FMN2_HUMAN	V	1135	ENSP00000318884:L1135V	.	L	+	1	0	FMN2	238438138	0.008000	0.16893	0.025000	0.17156	0.003000	0.03518	0.076000	0.14712	1.717000	0.51406	0.471000	0.43371	CTT		PASS	0.706	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		3	35	3	35	---	---	---	---
OR2C3	81472	broad.mit.edu	37	1	247695440	247695440	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:247695440G>T	ENST00000366487.3	-	2	735	c.374C>A	c.(373-375)gCt>gAt	p.A125D	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A124D(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCAGATGGCAGCGTAGCGGTC	0.567																																						uc009xgy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(373-375)GCT>GAT		olfactory receptor, family 2, subfamily C,							73.0	74.0	74.0					1																	247695440		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695440G>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.374C>A	1.37:g.247695440G>T	ENSP00000355443:p.Ala125Asp					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.A125D	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	736	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	125			Cytoplasmic (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.374C>A	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930607	0.73327	.	.	ENSG00000196242	ENST00000366487	T	0.01902	4.57	3.89	2.0	0.26442	GPCR, rhodopsin-like superfamily (1);	0.238056	0.21479	U	0.073861	T	0.06416	0.0165	M	0.88906	2.99	0.25094	N	0.990838	P	0.50943	0.94	P	0.48030	0.564	T	0.14117	-1.0484	10	0.87932	D	0	.	5.1891	0.15199	0.3407:0.0:0.6593:0.0	.	125	Q8N628	OR2C3_HUMAN	D	125	ENSP00000355443:A125D	ENSP00000355443:A125D	A	-	2	0	OR2C3	245762063	0.002000	0.14202	0.861000	0.33841	0.972000	0.66771	1.695000	0.37763	0.971000	0.38288	0.650000	0.86243	GCT		PASS	0.567	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		19	86	19	86	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248028218	248028218	+	Missense_Mutation	SNP	C	C	T	rs200576401	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:248028218C>T	ENST00000366481.3	+	3	776	c.728C>T	c.(727-729)cCg>cTg	p.P243L		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	243						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.P243L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCCAGCGCCCGGCCCTGGGT	0.622													C|||	3	0.000599042	0.0023	0.0	5008	,	,		15794	0.0		0.0	False		,,,				2504	0.0					uc001ido.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(727-729)CCG>CTG		tripartite motif-containing 58		C	LEU/PRO	9,4359		0,9,2175	8.0	12.0	11.0		728	2.5	0.0	1		11	0,8566		0,0,4283	yes	missense	TRIM58	NM_015431.3	98	0,9,6458	TT,TC,CC		0.0,0.206,0.0696	possibly-damaging	243/487	248028218	9,12925	2184	4283	6467	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248028218C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.728C>T	1.37:g.248028218C>T	ENSP00000355437:p.Pro243Leu						p.P243L	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	776	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	243					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.728C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412926	0.25465	0.00206	0.0	ENSG00000162722	ENST00000366481	T	0.08008	3.14	4.35	2.48	0.30137	.	0.711529	0.12751	N	0.442172	T	0.09774	0.0240	M	0.62088	1.915	0.09310	N	0.999998	P	0.50710	0.938	B	0.39503	0.301	T	0.20009	-1.0288	10	0.62326	D	0.03	.	7.9724	0.30134	0.1601:0.7483:0.0:0.0916	.	243	Q8NG06	TRI58_HUMAN	L	243	ENSP00000355437:P243L	ENSP00000355437:P243L	P	+	2	0	TRIM58	246094841	0.000000	0.05858	0.001000	0.08648	0.672000	0.39443	0.720000	0.25896	0.218000	0.20820	-0.808000	0.03180	CCG		PASS	0.622	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		8	17	8	17	---	---	---	---
OR2L2	26246	broad.mit.edu	37	1	248202246	248202246	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:248202246G>T	ENST00000366479.2	+	1	773	c.677G>T	c.(676-678)cGc>cTc	p.R226L	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R226L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCTGTCTACCGCATGCACTCT	0.483																																						uc001idw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(676-678)CGC>CTC		olfactory receptor, family 2, subfamily L,							245.0	216.0	226.0					1																	248202246		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202246G>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.677G>T	1.37:g.248202246G>T	ENSP00000355435:p.Arg226Leu					OR2L13_uc001ids.2_Intron	p.R226L	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	773	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		226			Cytoplasmic (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.677G>T	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.057802	0.36277	.	.	ENSG00000203663	ENST00000366479	T	0.00262	8.4	1.9	-3.73	0.04398	GPCR, rhodopsin-like superfamily (1);	0.845232	0.09637	U	0.775456	T	0.00356	0.0011	M	0.85859	2.78	0.09310	N	1	P	0.47545	0.897	P	0.49922	0.626	T	0.07908	-1.0748	10	0.72032	D	0.01	.	9.4994	0.39008	0.261:0.0:0.739:0.0	.	226	Q8NH16	OR2L2_HUMAN	L	226	ENSP00000355435:R226L	ENSP00000355435:R226L	R	+	2	0	OR2L2	246268869	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.737000	0.01843	-1.044000	0.03254	0.194000	0.17425	CGC		PASS	0.483	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		113	333	113	333	---	---	---	---
OR2L3	391192	broad.mit.edu	37	1	248224439	248224439	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:248224439G>T	ENST00000359959.3	+	1	456	c.456G>T	c.(454-456)tcG>tcT	p.S152S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S152S(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCATAGGCTCGATCAATGCTT	0.433																																						uc001idx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(454-456)TCG>TCT		olfactory receptor, family 2, subfamily L,							170.0	195.0	186.0					1																	248224439		2203	4300	6503	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224439G>T	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.456G>T	1.37:g.248224439G>T						OR2L13_uc001ids.2_Intron	p.S152S	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	456	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		152			Helical; Name=4; (Potential).		B9EH44	Silent	SNP	ENST00000359959.3	37	c.456G>T	CCDS31104.1																																																																																				PASS	0.433	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		174	290	174	290	---	---	---	---
OR2T3	343173	broad.mit.edu	37	1	248637513	248637513	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:248637513C>T	ENST00000359594.2	+	1	887	c.862C>T	c.(862-864)Cct>Tct	p.P288S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P288S(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCTTCACTCCTGTGCTGAA	0.498																																						uc001iel.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(862-864)CCT>TCT		olfactory receptor, family 2, subfamily T,							170.0	167.0	168.0					1																	248637513		2202	4296	6498	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637513C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.862C>T	1.37:g.248637513C>T	ENSP00000352604:p.Pro288Ser						p.P288S	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	862	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		288			Helical; Name=7; (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.862C>T	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	c	17.42	3.385131	0.61956	.	.	ENSG00000196539	ENST00000359594	T	0.00330	8.08	2.37	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01029	0.0034	M	0.93854	3.465	0.32252	N	0.571273	D	0.76494	0.999	D	0.77004	0.989	T	0.07539	-1.0767	9	0.87932	D	0	.	10.4397	0.44457	0.0:1.0:0.0:0.0	.	288	Q8NH03	OR2T3_HUMAN	S	288	ENSP00000352604:P288S	ENSP00000352604:P288S	P	+	1	0	OR2T3	246704136	0.244000	0.23889	0.004000	0.12327	0.187000	0.23431	1.638000	0.37165	1.014000	0.39417	0.186000	0.17326	CCT		PASS	0.498	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		31	620	31	620	---	---	---	---
OR2T34	127068	broad.mit.edu	37	1	248737197	248737197	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:248737197G>A	ENST00000328782.2	-	1	883	c.862C>T	c.(862-864)Cct>Tct	p.P288S		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P288S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCAGCACAGGAGTGAAGATG	0.498																																						uc001iep.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(862-864)CCT>TCT		olfactory receptor, family 2, subfamily T,							16.0	14.0	15.0					1																	248737197		2024	4087	6111	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737197G>A	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.862C>T	1.37:g.248737197G>A	ENSP00000330904:p.Pro288Ser						p.P288S	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	862	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		288			Helical; Name=7; (Potential).		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.862C>T	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	11.62	1.693092	0.30052	.	.	ENSG00000183310	ENST00000328782	T	0.00330	8.08	2.37	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01061	0.0035	M	0.92880	3.355	0.26789	N	0.969431	D	0.76494	0.999	D	0.83275	0.996	T	0.18023	-1.0350	9	0.87932	D	0	.	11.6319	0.51181	0.0:0.0:1.0:0.0	.	288	Q8NGX1	O2T34_HUMAN	S	288	ENSP00000330904:P288S	ENSP00000330904:P288S	P	-	1	0	OR2T34	246803820	1.000000	0.71417	0.989000	0.46669	0.283000	0.27025	4.214000	0.58527	1.169000	0.42739	0.123000	0.15791	CCT		PASS	0.498	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		11	148	11	148	---	---	---	---
ZNF692	55657	broad.mit.edu	37	1	249149643	249149643	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr1:249149643C>T	ENST00000306601.4	-	9	1140	c.974G>A	c.(973-975)aGa>aAa	p.R325K	ZNF692_ENST00000427146.1_Missense_Mutation_p.R280K|ZNF692_ENST00000451251.1_Missense_Mutation_p.R330K|ZNF692_ENST00000468455.1_5'Flank|ZNF692_ENST00000366471.3_Missense_Mutation_p.R280K|ZNF692_ENST00000366469.5_Missense_Mutation_p.R324K	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R325K(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CATCAGCTCTCTTTTGGCAGC	0.577																																						uc001ifc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(973-975)AGA>AAA		zinc finger protein 692 isoform 2							87.0	73.0	78.0					1																	249149643		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249149643C>T	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.974G>A	1.37:g.249149643C>T	ENSP00000305483:p.Arg325Lys					ZNF692_uc001iez.1_Missense_Mutation_p.R47K|ZNF692_uc001ifa.1_Missense_Mutation_p.R47K|ZNF692_uc001ifb.1_Missense_Mutation_p.R121K|ZNF692_uc001ifd.1_Missense_Mutation_p.R324K|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.R280K|ZNF692_uc010pzr.1_Missense_Mutation_p.R330K	p.R325K	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		9	1141	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	325					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.974G>A	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.938127	0.34189	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366470;ENST00000366471;ENST00000366469;ENST00000451251	T;T;T;T;T	0.08807	3.07;3.13;3.13;3.05;3.06	4.11	2.22	0.28083	.	0.110503	0.37304	N	0.002146	T	0.08044	0.0201	L	0.52364	1.645	0.80722	D	1	B;B;B;B;B	0.12013	0.005;0.004;0.004;0.005;0.001	B;B;B;B;B	0.14578	0.004;0.011;0.011;0.003;0.001	T	0.19063	-1.0317	10	0.31617	T	0.26	-8.6887	8.1122	0.30922	0.0:0.7967:0.0:0.2033	.	330;280;153;325;58	B4DXZ0;Q9BU19-2;Q9BU19-3;Q9BU19;Q59EV5	.;.;.;ZN692_HUMAN;.	K	325;280;153;280;324;330	ENSP00000305483:R325K;ENSP00000390044:R280K;ENSP00000355427:R280K;ENSP00000355425:R324K;ENSP00000391200:R330K	ENSP00000305483:R325K	R	-	2	0	ZNF692	247116266	0.638000	0.27225	0.922000	0.36590	0.992000	0.81027	0.836000	0.27545	0.506000	0.28125	0.563000	0.77884	AGA		PASS	0.577	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		22	185	22	185	---	---	---	---
TPO	7173	broad.mit.edu	37	2	1437379	1437379	+	Splice_Site	SNP	G	G	A	rs577561417		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:1437379G>A	ENST00000345913.4	+	4	440	c.349G>A	c.(349-351)Gat>Aat	p.D117N	TPO_ENST00000539820.1_Splice_Site_p.D117N|TPO_ENST00000349624.3_Splice_Site_p.D117N|TPO_ENST00000346956.3_Splice_Site_p.D117N|TPO_ENST00000329066.4_Splice_Site_p.D117N|TPO_ENST00000382198.1_Splice_Site_p.D117N|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Splice_Site_p.D117N|TPO_ENST00000337415.3_Splice_Site_p.D117N|TPO_ENST00000382269.3_Splice_Site_p.D117N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	117					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.D117N(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCATCCAACGGGTAATGTGTG	0.498																																						uc002qww.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	GRCh37	CS002686	TPO	S		c.(349-351)GAT>AAT		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						78.0	65.0	69.0					2																	1437379		2203	4300	6503	SO:0001630	splice_region_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1437379G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.349+1G>A	2.37:g.1437379G>A						TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Missense_Mutation_p.D117N|TPO_uc002qwu.2_Missense_Mutation_p.D117N|TPO_uc002qwr.2_Missense_Mutation_p.D117N|TPO_uc002qwx.2_Missense_Mutation_p.D117N|TPO_uc010yio.1_Missense_Mutation_p.D117N|TPO_uc010yip.1_Missense_Mutation_p.D117N	p.D117N	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	4	440	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	117			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.349G>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898779	0.72639	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	4.26	4.26	0.50523	.	0.833578	0.10551	N	0.661518	T	0.73621	0.3610	M	0.83603	2.65	0.35008	D	0.756603	D;D;D;D;D	0.76494	0.999;0.998;0.997;0.997;0.984	D;D;P;D;P	0.66351	0.943;0.924;0.907;0.911;0.748	T	0.77694	-0.2492	10	0.51188	T	0.08	-25.516	13.9712	0.64242	0.0:0.0:1.0:0.0	.	117;117;117;117;117	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	N	117;117;117;117;117;117;117;117;117;117;46	ENSP00000371704:D117N;ENSP00000337263:D117N;ENSP00000318820:D117N;ENSP00000263886:D117N;ENSP00000332044:D117N;ENSP00000444840:D117N;ENSP00000329869:D117N;ENSP00000371636:D117N;ENSP00000390994:D117N;ENSP00000371633:D117N;ENSP00000405788:D46N	ENSP00000329869:D117N	D	+	1	0	TPO	1416386	1.000000	0.71417	0.190000	0.23270	0.005000	0.04900	4.984000	0.63838	2.076000	0.62316	0.563000	0.77884	GAT		PASS	0.498	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	Missense_Mutation	19	56	19	56	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1653434	1653434	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:1653434G>A	ENST00000252804.4	-	17	2168	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	706					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.N706N(2)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACACCAGGTCGTTGTAGTGGT	0.592																																						uc002qxa.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	pancreas(6)|ovary(2)	8						c.(2116-2118)AAC>AAT		peroxidasin precursor							53.0	54.0	54.0					2																	1653434		2101	4222	6323	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653434G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2118C>T	2.37:g.1653434G>A							p.N706N	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2182	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	706					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.2118C>T	CCDS46221.1																																																																																				PASS	0.592	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		35	158	35	158	---	---	---	---
CMPK2	129607	broad.mit.edu	37	2	7003644	7003644	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:7003644G>A	ENST00000256722.5	-	2	740	c.741C>T	c.(739-741)atC>atT	p.I247I	CMPK2_ENST00000458098.1_Silent_p.I247I|CMPK2_ENST00000404168.1_Silent_p.I247I|CMPK2_ENST00000478738.1_5'UTR	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	247					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)	p.I247I(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTCCTTTCTGGATCTGTTTTG	0.453																																						uc002qyo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(739-741)ATC>ATT		UMP-CMP kinase 2 precursor							131.0	129.0	129.0					2																	7003644		1897	4116	6013	SO:0001819	synonymous_variant	129607				dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	g.chr2:7003644G>A		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.741C>T	2.37:g.7003644G>A						CMPK2_uc010yis.1_Silent_p.I247I|CMPK2_uc010ewv.2_Silent_p.I247I	p.I247I	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN			2	850	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		247					A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Silent	SNP	ENST00000256722.5	37	c.741C>T	CCDS42648.1																																																																																				PASS	0.453	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		26	285	26	285	---	---	---	---
PDIA6	10130	broad.mit.edu	37	2	10930911	10930911	+	Silent	SNP	C	C	T	rs145487229	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:10930911C>T	ENST00000272227.3	-	7	780	c.633G>A	c.(631-633)acG>acA	p.T211T	PDIA6_ENST00000404371.2_Silent_p.T263T|PDIA6_ENST00000381611.4_Silent_p.T216T|PDIA6_ENST00000404824.2_Silent_p.T259T|PDIA6_ENST00000540494.1_Silent_p.T208T	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	211	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)	p.T211T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CTTTTCCTTTCGTCTGCTCTT	0.443													C|||	3	0.000599042	0.0015	0.0	5008	,	,		21947	0.0		0.001	False		,,,				2504	0.0				GBM(73;509 1219 34219 41343 41551)	uc002rau.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(631-633)ACG>ACA		protein disulfide isomerase A6 precursor		C		6,4400	11.4+/-27.6	0,6,2197	152.0	146.0	148.0		633	-11.9	0.0	2	dbSNP_134	148	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	PDIA6	NM_005742.2		0,14,6489	TT,TC,CC		0.093,0.1362,0.1076		211/441	10930911	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10930911C>T	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.633G>A	2.37:g.10930911C>T						PDIA6_uc010yjg.1_Silent_p.T208T|PDIA6_uc002rav.2_Silent_p.T263T|PDIA6_uc010yjh.1_Silent_p.T216T|PDIA6_uc002raw.2_Silent_p.T259T	p.T211T	NM_005742	NP_005733	Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	7	771	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		211			Thioredoxin 2.		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Silent	SNP	ENST00000272227.3	37	c.633G>A	CCDS1675.1																																																																																				PASS	0.443	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		24	160	24	160	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15676580	15676580	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:15676580G>A	ENST00000281513.5	-	8	634	c.609C>T	c.(607-609)gtC>gtT	p.V203V	NBAS_ENST00000441750.1_Silent_p.V203V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	203					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.V203V(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGTAATTGATGACCAGGAGTT	0.363																																						uc002rcc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(607-609)GTC>GTT		neuroblastoma-amplified protein							106.0	111.0	109.0					2																	15676580		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15676580G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.609C>T	2.37:g.15676580G>A						NBAS_uc002rcd.1_RNA	p.V203V	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			8	635	-			203					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.609C>T	CCDS1685.1																																																																																				PASS	0.363	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		45	249	45	249	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24494810	24494810	+	Splice_Site	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:24494810C>T	ENST00000355123.4	-	19	2525	c.2082G>A	c.(2080-2082)agG>agA	p.R694R	ITSN2_ENST00000406921.3_Splice_Site_p.R694R|SCARNA21_ENST00000515996.1_RNA|ITSN2_ENST00000361999.3_Splice_Site_p.R667R	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	694					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.R694R(1)|p.R693R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					gctttgctttcctttACATAA	0.308																																						uc002rfe.2																			2	Substitution - coding silent(2)		lung(2)	kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(2080-2082)AGG>AGA		intersectin 2 isoform 1							34.0	31.0	32.0					2																	24494810		2195	4283	6478	SO:0001630	splice_region_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24494810C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2082-1G>A	2.37:g.24494810C>T						ITSN2_uc002rff.2_Silent_p.R667R|ITSN2_uc002rfg.2_Silent_p.R694R	p.R694R	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			19	2340	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		694			Potential.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.2082G>A	CCDS1710.2																																																																																				PASS	0.308	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	Silent	4	38	4	38	---	---	---	---
MEMO1	51072	broad.mit.edu	37	2	32145919	32145919	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:32145919G>A	ENST00000295065.5	-	4	582	c.273C>T	c.(271-273)tcC>tcT	p.S91S	MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Silent_p.S94S|MEMO1_ENST00000426310.2_Silent_p.S68S|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000404530.1_Silent_p.S91S|AL121652.1_ENST00000408399.1_RNA	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	91					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.S91S(1)		NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TATCCACACTGGAAAGTGCAC	0.378																																						uc002rnx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(271-273)TCC>TCT		mediator of cell motility 1 isoform 1							96.0	102.0	100.0					2																	32145919		2203	4300	6503	SO:0001819	synonymous_variant	51072				regulation of microtubule-based process	cytosol|nucleus		g.chr2:32145919G>A	AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.273C>T	2.37:g.32145919G>A						MEMO1_uc010ymu.1_Silent_p.S68S|MEMO1_uc010ezq.2_Silent_p.S91S|MEMO1_uc002rny.2_RNA|MEMO1_uc002rnz.2_RNA|MEMO1_uc010ymv.1_RNA	p.S91S	NM_015955	NP_057039	Q9Y316	MEMO1_HUMAN			4	655	-	Acute lymphoblastic leukemia(172;0.155)		91					B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Silent	SNP	ENST00000295065.5	37	c.273C>T	CCDS1776.1																																																																																				PASS	0.378	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955		16	165	16	165	---	---	---	---
GTF2A1L	11036	broad.mit.edu	37	2	48897062	48897062	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:48897062G>A	ENST00000403751.3	+	7	1217	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E1098K|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.E360K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E1098K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E1098K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E1098K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E1051K|LHCGR_ENST00000420913.3_5'Flank	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	394					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.E43K(2)|p.E1098K(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATTTCAAATGAGGATTCAGC	0.383																																						uc010yol.1																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(1)|skin(1)	5						c.(3151-3153)GAG>AAG		stonin 1							89.0	92.0	91.0					2																	48897062		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48897062G>A	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1180G>A	2.37:g.48897062G>A	ENSP00000384597:p.Glu394Lys					STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.E1098K|GTF2A1L_uc002rws.1_Missense_Mutation_p.E394K|GTF2A1L_uc010yom.1_Missense_Mutation_p.E360K|GTF2A1L_uc002rwt.2_Missense_Mutation_p.E394K	p.E1051K	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		6	3198	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	1051					B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	c.3151G>A	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686145	0.29962	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000430487;ENST00000403751;ENST00000508440	T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.5	5.5	0.81552	.	0.611918	0.16281	N	0.221347	T	0.61135	0.2323	M	0.71206	2.165	0.80722	D	1	P;B;P;B;D	0.53312	0.868;0.039;0.643;0.105;0.959	P;B;P;B;P	0.59595	0.521;0.021;0.542;0.047;0.86	T	0.53954	-0.8365	10	0.19590	T	0.45	.	11.9667	0.53040	0.0:0.0:0.8269:0.1731	.	360;1051;1098;394;1098	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	K	1098;1098;1098;1098;1051;393;360;394;43	ENSP00000385499:E1098K;ENSP00000385701:E1098K;ENSP00000378236:E1098K;ENSP00000311493:E1098K;ENSP00000378234:E1051K;ENSP00000387896:E360K;ENSP00000384597:E394K;ENSP00000421474:E43K	ENSP00000384597:E394K	E	+	1	0	STON1-GTF2A1L;GTF2A1L	48750566	0.992000	0.36948	1.000000	0.80357	0.701000	0.40568	1.666000	0.37460	2.584000	0.87258	0.561000	0.74099	GAG		PASS	0.383	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		8	202	8	202	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	51254939	51254939	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:51254939A>T	ENST00000406316.2	-	2	1949	c.473T>A	c.(472-474)cTg>cAg	p.L158Q	NRXN1_ENST00000401669.2_Missense_Mutation_p.L158Q|NRXN1_ENST00000406859.3_Missense_Mutation_p.L158Q|NRXN1_ENST00000404971.1_Missense_Mutation_p.L158Q|NRXN1_ENST00000405472.3_Missense_Mutation_p.L158Q|NRXN1_ENST00000405581.1_Missense_Mutation_p.L158Q|NRXN1_ENST00000402717.3_Missense_Mutation_p.L158Q	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	158	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.L158Q(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTCCGGGGGCAGCCCCCCGAC	0.657																																						uc010fbq.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(472-474)CTG>CAG		neurexin 1 isoform alpha2 precursor							22.0	29.0	27.0					2																	51254939		2099	4222	6321	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51254939A>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.473T>A	2.37:g.51254939A>T	ENSP00000384311:p.Leu158Gln					NRXN1_uc002rxe.3_Missense_Mutation_p.L158Q|NRXN1_uc002rxd.1_Missense_Mutation_p.L158Q	p.L158Q	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1950	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.473T>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.972171	0.74246	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.558670	0.12093	U	0.500275	D	0.87083	0.6089	M	0.66297	2.02	0.37715	D	0.924714	P;P;B	0.40602	0.723;0.708;0.025	P;P;B	0.53593	0.73;0.522;0.023	D	0.87748	0.2590	10	0.87932	D	0	.	14.6578	0.68847	1.0:0.0:0.0:0.0	.	158;158;158	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	Q	158	ENSP00000385142:L158Q;ENSP00000384311:L158Q;ENSP00000434015:L158Q;ENSP00000385017:L158Q;ENSP00000385434:L158Q;ENSP00000385681:L158Q;ENSP00000385310:L158Q	ENSP00000385017:L158Q	L	-	2	0	NRXN1	51108443	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	6.234000	0.72326	1.860000	0.53959	0.460000	0.39030	CTG		PASS	0.657	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			6	42	6	42	---	---	---	---
GPR75-ASB3	100302652	broad.mit.edu	37	2	53897777	53897777	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:53897777G>A	ENST00000263634.3	-	10	1554	c.1420C>T	c.(1420-1422)Cta>Tta	p.L474L	GPR75-ASB3_ENST00000352846.3_Silent_p.L512L|GPR75-ASB3_ENST00000406687.1_Silent_p.L401L|ASB3_ENST00000406625.2_Silent_p.L509L|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Silent_p.L401L	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough									p.L474L(1)									TCTGATTTTAGACTGGACCGA	0.403																																						uc002rxg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1420-1422)CTA>TTA		ankyrin repeat and SOCS box-containing protein 3							74.0	71.0	72.0					2																	53897777		2203	4300	6503	SO:0001819	synonymous_variant	51130				intracellular signal transduction			g.chr2:53897777G>A		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.1420C>T	2.37:g.53897777G>A						ASB3_uc002rxh.1_Silent_p.L401L|ASB3_uc002rxi.3_Silent_p.L512L|ASB3_uc002rxf.1_RNA	p.L474L	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		10	1555	-			474			SOCS box.			Silent	SNP	ENST00000263634.3	37	c.1420C>T	CCDS1846.1																																																																																				PASS	0.403	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			14	90	14	90	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60689209	60689209	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:60689209C>G	ENST00000335712.6	-	4	1065	c.838G>C	c.(838-840)Gag>Cag	p.E280Q	BCL11A_ENST00000356842.4_Missense_Mutation_p.E280Q|BCL11A_ENST00000538214.1_Missense_Mutation_p.E246Q|BCL11A_ENST00000358510.4_Missense_Mutation_p.E246Q|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	280	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.E280Q(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCCAGGCGCTCTATGCGGTGG	0.627			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		2	Substitution - Missense(2)		lung(2)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(838-840)GAG>CAG		B-cell CLL/lymphoma 11A isoform 1							37.0	43.0	41.0					2																	60689209		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689209C>G	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.838G>C	2.37:g.60689209C>G	ENSP00000338774:p.Glu280Gln					BCL11A_uc002sab.2_Missense_Mutation_p.E280Q|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.E246Q|BCL11A_uc002sad.1_Missense_Mutation_p.E128Q|BCL11A_uc002saf.1_Missense_Mutation_p.E246Q	p.E280Q	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1066	-			280			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.838G>C	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.221850	0.39300	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.09538	2.97;3.25;3.26;3.2	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.19485	0.0468	N	0.14661	0.345	0.80722	D	1	D;P;D;D	0.76494	0.996;0.769;0.993;0.999	D;P;D;D	0.72982	0.922;0.888;0.979;0.941	T	0.13098	-1.0522	10	0.28530	T	0.3	-3.1074	20.2562	0.98421	0.0:1.0:0.0:0.0	.	246;246;280;280	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	Q	280;316;246;280;246	ENSP00000349300:E280Q;ENSP00000438303:E246Q;ENSP00000338774:E280Q;ENSP00000351307:E246Q	ENSP00000338774:E280Q	E	-	1	0	BCL11A	60542713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.151000	0.71806	2.797000	0.96272	0.563000	0.77884	GAG		PASS	0.627	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		32	203	32	203	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61512052	61512052	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:61512052C>T	ENST00000398571.2	-	35	4866	c.4790G>A	c.(4789-4791)cGa>cAa	p.R1597Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1597					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R1597Q(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGACATAAGTCGCTGAATCAA	0.294																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(4789-4791)CGA>CAA		ubiquitin specific protease 34							57.0	50.0	52.0					2																	61512052		1814	4076	5890	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61512052C>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4790G>A	2.37:g.61512052C>T	ENSP00000381577:p.Arg1597Gln						p.R1597Q	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		35	4812	-			1597					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.4790G>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184738	0.78677	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04502	3.61	5.98	5.98	0.97165	.	0.131925	0.50627	D	0.000109	T	0.14098	0.0341	L	0.39898	1.24	0.50313	D	0.999866	D	0.64830	0.994	P	0.61201	0.885	T	0.00240	-1.1887	10	0.46703	T	0.11	.	18.6326	0.91366	0.0:1.0:0.0:0.0	.	1597	Q70CQ2	UBP34_HUMAN	Q	1445;1445;1597	ENSP00000381577:R1597Q	ENSP00000263989:R1445Q	R	-	2	0	USP34	61365556	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.243000	0.65395	2.838000	0.97847	0.591000	0.81541	CGA		PASS	0.294	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			3	26	3	26	---	---	---	---
RAB1A	5861	broad.mit.edu	37	2	65316076	65316076	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:65316076C>T	ENST00000409784.3	-	5	607	c.417G>A	c.(415-417)gcG>gcA	p.A139A	RAB1A_ENST00000409892.1_Silent_p.A75A|RAB1A_ENST00000260638.8_Intron|RAB1A_ENST00000356214.7_Silent_p.A107A|RAB1A_ENST00000398529.3_Intron|RAB1A_ENST00000409751.1_Silent_p.A107A|RAB1A_ENST00000494188.1_Intron	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN	RAB1A, member RAS oncogene family	139					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cargo loading into COPII-coated vesicle (GO:0090110)|cell migration (GO:0016477)|defense response to bacterium (GO:0042742)|endocytosis (GO:0006897)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|growth hormone secretion (GO:0030252)|GTP catabolic process (GO:0006184)|interleukin-8 secretion (GO:0072606)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|positive regulation of glycoprotein metabolic process (GO:1903020)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle transport along microtubule (GO:0047496)|vesicle-mediated transport (GO:0016192)|virion assembly (GO:0019068)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|melanosome (GO:0042470)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A139A(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						AACATACCTTCGCTGTTGTGT	0.353																																						uc002sdm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(415-417)GCG>GCA		RAB1A, member RAS oncogene family isoform 1							76.0	65.0	68.0					2																	65316076		1860	4098	5958	SO:0001819	synonymous_variant	5861				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	GTP binding|GTPase activity	g.chr2:65316076C>T	M28209	CCDS46305.1, CCDS46306.1	2p14	2008-02-05		2002-03-17	ENSG00000138069	ENSG00000138069		"""RAB, member RAS oncogene"""	9758	protein-coding gene	gene with protein product	"""Rab GTPase YPT1 homolog (yeast)"""	179508		RAB1		2501306	Standard	NM_004161		Approved	YPT1	uc002sdm.3	P62820	OTTHUMG00000152725	ENST00000409784.3:c.417G>A	2.37:g.65316076C>T						RAB1A_uc002sdn.2_Intron|RAB1A_uc010yqe.1_Silent_p.A107A|RAB1A_uc002sdo.2_Silent_p.A75A	p.A139A	NM_004161	NP_004152	P62820	RAB1A_HUMAN			5	803	-			139					P11476|Q6FIE7|Q96N61|Q9Y3T2	Silent	SNP	ENST00000409784.3	37	c.417G>A	CCDS46306.1																																																																																				PASS	0.353	RAB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327572.1	NM_004161		3	22	3	22	---	---	---	---
NFU1	27247	broad.mit.edu	37	2	69642328	69642328	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:69642328G>A	ENST00000410022.2	-	5	678	c.473C>T	c.(472-474)tCa>tTa	p.S158L	NFU1_ENST00000303698.3_Missense_Mutation_p.S134L|NFU1_ENST00000462320.1_Missense_Mutation_p.S17L|NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000394305.1_Missense_Mutation_p.S17L	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	158				S -> P (in Ref. 4; AAD27742). {ECO:0000305}.	iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)	p.S158L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TGCTTCTCCTGAAGGTGTTTC	0.343																																						uc002sfk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)TCA>TTA		HIRA interacting protein 5 isoform 2							81.0	78.0	79.0					2																	69642328		2203	4300	6503	SO:0001583	missense	27247				iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding	g.chr2:69642328G>A	AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"""HIRA interacting protein 5"", ""NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"""	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.473C>T	2.37:g.69642328G>A	ENSP00000387219:p.Ser158Leu					NFU1_uc002sfj.2_Missense_Mutation_p.S134L|NFU1_uc002sfl.2_Missense_Mutation_p.S17L|NFU1_uc002sfm.2_Missense_Mutation_p.S17L|NFU1_uc010fdi.2_RNA|NFU1_uc002sfn.1_Missense_Mutation_p.S158L	p.S158L	NM_001002755	NP_001002755	Q9UMS0	NFU1_HUMAN			5	672	-			158	S -> P (in Ref. 4; AAD27742).				B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Missense_Mutation	SNP	ENST00000410022.2	37	c.473C>T	CCDS33217.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204855	0.38905	.	.	ENSG00000169599	ENST00000410022;ENST00000303698;ENST00000394305;ENST00000462320;ENST00000450796;ENST00000484177	T;T;T;T;T;T	0.77620	-0.14;-0.13;-1.11;-1.11;-1.1;-1.1	5.19	5.19	0.71726	.	0.345964	0.28908	N	0.013741	T	0.71256	0.3318	L	0.50333	1.59	0.23616	N	0.997281	B;B	0.20550	0.032;0.046	B;B	0.19946	0.023;0.027	T	0.58387	-0.7645	10	0.29301	T	0.29	-27.9781	12.5759	0.56363	0.0:0.2724:0.7276:0.0	.	134;158	Q9UMS0-3;Q9UMS0	.;NFU1_HUMAN	L	158;134;17;17;17;17	ENSP00000387219:S158L;ENSP00000306965:S134L;ENSP00000377842:S17L;ENSP00000418598:S17L;ENSP00000415102:S17L;ENSP00000417693:S17L	ENSP00000306965:S134L	S	-	2	0	NFU1	69495832	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.616000	0.61197	2.700000	0.92200	0.585000	0.79938	TCA		PASS	0.343	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327279.3	NM_015700		21	109	21	109	---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71651066	71651066	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:71651066G>A	ENST00000409544.1	+	22	5052	c.4422G>A	c.(4420-4422)ctG>ctA	p.L1474L	ZNF638_ENST00000264447.4_Silent_p.L1474L|ZNF638_ENST00000409407.1_Silent_p.L414L|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1474					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.L1474L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTCAGCCCTGCAAGGCAAGC	0.463																																						uc002shx.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(4420-4422)CTG>CTA		zinc finger protein 638							55.0	53.0	54.0					2																	71651066		2203	4300	6503	SO:0001819	synonymous_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71651066G>A	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4422G>A	2.37:g.71651066G>A						ZNF638_uc010yqw.1_Silent_p.L1053L|ZNF638_uc002shy.2_Silent_p.L1474L|ZNF638_uc002shz.2_Silent_p.L1474L|ZNF638_uc002sia.2_Silent_p.L1474L|ZNF638_uc002sib.1_Intron|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Silent_p.L571L|ZNF638_uc002sid.2_Intron	p.L1474L	NM_014497	NP_055312	Q14966	ZN638_HUMAN			22	4741	+			1474					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	ENST00000409544.1	37	c.4422G>A	CCDS1917.1																																																																																				PASS	0.463	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		7	73	7	73	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73675343	73675343	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:73675343G>A	ENST00000264448.6	+	8	1797	c.1686G>A	c.(1684-1686)caG>caA	p.Q562Q	ALMS1_ENST00000377715.1_Silent_p.Q562Q|ALMS1_ENST00000409009.1_Silent_p.Q520Q	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	562	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.Q562Q(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAGCTGACCAGAAGACTGCAA	0.468																																						uc002sje.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(1690-1692)CAG>CAA		Alstrom syndrome 1							89.0	87.0	88.0					2																	73675343		1911	4121	6032	SO:0001819	synonymous_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73675343G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1686G>A	2.37:g.73675343G>A						ALMS1_uc002sjf.1_Silent_p.Q520Q|ALMS1_uc002sjg.2_5'UTR|ALMS1_uc002sjh.1_5'UTR	p.Q564Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	1803	+			562			1.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	c.1692G>A	CCDS42697.1																																																																																				PASS	0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		27	156	27	156	---	---	---	---
VAMP5	10791	broad.mit.edu	37	2	85820097	85820097	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:85820097G>A	ENST00000306384.4	+	3	251	c.168G>A	c.(166-168)caG>caA	p.Q56Q	RNF181_ENST00000306368.4_5'Flank|RNF181_ENST00000441634.1_5'Flank	NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	56	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				cell differentiation (GO:0030154)|Golgi to plasma membrane protein transport (GO:0043001)|muscle organ development (GO:0007517)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.Q56Q(1)		NS(1)|large_intestine(3)|lung(1)	5						AGACTACACAGAACCTGGCCC	0.582																																						uc002spu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(166-168)CAG>CAA		vesicle-associated membrane protein 5							262.0	230.0	240.0					2																	85820097		2203	4300	6503	SO:0001819	synonymous_variant	10791				cell differentiation|vesicle-mediated transport	endomembrane system		g.chr2:85820097G>A	AF054825	CCDS1980.1	2p11.2	2013-02-13	2012-10-17		ENSG00000168899	ENSG00000168899		"""Vesicle-associated membrane proteins"""	12646	protein-coding gene	gene with protein product	"""myobrevin"""	607029				9725904	Standard	NM_006634		Approved		uc002spu.1	O95183	OTTHUMG00000130169	ENST00000306384.4:c.168G>A	2.37:g.85820097G>A						RNF181_uc002spv.1_5'Flank	p.Q56Q	NM_006634	NP_006625	O95183	VAMP5_HUMAN			3	251	+			56			v-SNARE coiled-coil homology.|Cytoplasmic (Potential).		Q9P0T2	Silent	SNP	ENST00000306384.4	37	c.168G>A	CCDS1980.1																																																																																				PASS	0.582	VAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252484.2	NM_006634		42	292	42	292	---	---	---	---
IGKV1-5	28299	broad.mit.edu	37	2	89247041	89247041	+	RNA	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:89247041G>A	ENST00000496168.1	-	0	309							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCCGGCAAGTGATGGTGACTC	0.488																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							121.0	116.0	117.0					2																	89247041		1950	4136	6086			0							g.chr2:89247041G>A	Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89247041G>A						uc002stl.2_Intron								101		-									RNA	SNP	ENST00000496168.1	37	c.8018C>T																																																																																					PASS	0.488	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323135.1	NG_000834		9	254	9	254	---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113088861	113088861	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:113088861G>C	ENST00000409871.1	+	12	2767	c.2366G>C	c.(2365-2367)aGa>aCa	p.R789T	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Missense_Mutation_p.R789T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	789							metal ion binding (GO:0046872)	p.R789T(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGGAAATTGAGAGGGAATGGA	0.473																																						uc002thq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2365-2367)AGA>ACA		zinc finger CCCH-type domain containing 6							96.0	93.0	94.0					2																	113088861		1896	4138	6034	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113088861G>C	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2366G>C	2.37:g.113088861G>C	ENSP00000386764:p.Arg789Thr						p.R789T	NM_198581	NP_940983	P61129	ZC3H6_HUMAN			12	2760	+			789					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.2366G>C	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305942	0.60305	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.19669	2.13;2.13	5.7	4.72	0.59763	.	0.237399	0.44097	D	0.000497	T	0.13970	0.0338	L	0.29908	0.895	0.38075	D	0.93649	P	0.43094	0.799	B	0.40901	0.343	T	0.03354	-1.1045	10	0.87932	D	0	-22.5305	3.7601	0.08601	0.3366:0.0:0.6634:0.0	.	789	P61129	ZC3H6_HUMAN	T	789;789;766	ENSP00000386764:R789T;ENSP00000340298:R789T	ENSP00000340298:R789T	R	+	2	0	ZC3H6	112805332	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	2.383000	0.44354	2.691000	0.91804	0.655000	0.94253	AGA		PASS	0.473	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		21	142	21	142	---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113089966	113089966	+	Silent	SNP	G	G	A	rs539203940		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:113089966G>A	ENST00000409871.1	+	12	3872	c.3471G>A	c.(3469-3471)ggG>ggA	p.G1157G	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Silent_p.G1157G	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1157							metal ion binding (GO:0046872)	p.G1157G(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAGGACAGGGGAGCCCGACCC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		15583	0.0		0.0	False		,,,				2504	0.001					uc002thq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(3469-3471)GGG>GGA		zinc finger CCCH-type domain containing 6							45.0	54.0	51.0					2																	113089966		1937	4144	6081	SO:0001819	synonymous_variant	376940						nucleic acid binding|zinc ion binding	g.chr2:113089966G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3471G>A	2.37:g.113089966G>A							p.G1157G	NM_198581	NP_940983	P61129	ZC3H6_HUMAN			12	3865	+			1157					A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	37	c.3471G>A	CCDS46393.1																																																																																				PASS	0.483	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		21	121	21	121	---	---	---	---
IL36RN	26525	broad.mit.edu	37	2	113818440	113818440	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:113818440C>T	ENST00000393200.2	+	3	202	c.41C>T	c.(40-42)tCg>tTg	p.S14L	IL36RN_ENST00000346807.3_Missense_Mutation_p.S14L	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	14					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)	p.S14L(1)		large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ATGAAGGACTCGGCATTGAAG	0.502																																						uc002tis.2																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)TCG>TTG		interleukin 1 family, member 5							117.0	101.0	106.0					2																	113818440		2203	4300	6503	SO:0001583	missense	26525					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113818440C>T	AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"""Interleukins and interleukin receptors"""	15561	protein-coding gene	gene with protein product	"""family of interleukin 1-delta"", ""interleukin-1 receptor antagonist homolog 1"", ""interleukin-1 HY1"", ""IL-1 related protein 3"""	605507	"""interleukin 1 family, member 5 (delta)"""	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.41C>T	2.37:g.113818440C>T	ENSP00000376896:p.Ser14Leu					IL1F5_uc002tit.2_Missense_Mutation_p.S14L	p.S14L	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN			3	174	+			14					A8K2I4|Q56AT9|Q7RTZ6	Missense_Mutation	SNP	ENST00000393200.2	37	c.41C>T	CCDS2111.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728298	0.48833	.	.	ENSG00000136695	ENST00000346807;ENST00000393200;ENST00000437409	T;T;T	0.77358	-1.09;-1.09;-1.09	4.9	4.9	0.64082	.	0.709411	0.14358	N	0.324677	T	0.59662	0.2210	N	0.12569	0.235	0.28144	N	0.929672	B	0.33022	0.394	B	0.18871	0.023	T	0.58532	-0.7620	10	0.51188	T	0.08	-8.5927	13.7737	0.63039	0.0:1.0:0.0:0.0	.	14	Q9UBH0	I36RA_HUMAN	L	14	ENSP00000259212:S14L;ENSP00000376896:S14L;ENSP00000409262:S14L	ENSP00000259212:S14L	S	+	2	0	IL36RN	113534911	0.890000	0.30428	0.794000	0.32065	0.976000	0.68499	3.139000	0.50577	2.722000	0.93159	0.655000	0.94253	TCG		PASS	0.502	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330729.1	NM_173170		6	86	6	86	---	---	---	---
MARCO	8685	broad.mit.edu	37	2	119699912	119699912	+	Silent	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:119699912C>G	ENST00000327097.4	+	1	171	c.36C>G	c.(34-36)ctC>ctG	p.L12L	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	12					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.L12L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGACGAGCTCTTGAGTGAGA	0.438																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(34-36)CTC>CTG		macrophage receptor with collagenous structure							96.0	96.0	96.0					2																	119699912		2203	4300	6503	SO:0001819	synonymous_variant	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119699912C>G	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.36C>G	2.37:g.119699912C>G						MARCO_uc010yyf.1_5'UTR	p.L12L	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			1	168	+			12			Cytoplasmic (Potential).		B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	37	c.36C>G	CCDS2124.1																																																																																				PASS	0.438	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		23	176	23	176	---	---	---	---
MGAT5	4249	broad.mit.edu	37	2	135102562	135102562	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:135102562G>C	ENST00000409645.1	+	9	1291	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	MGAT5_ENST00000281923.2_Missense_Mutation_p.E347Q			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	347					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.E347Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CAGAATTGTTGAGCTCATTTA	0.413																																						uc002ttv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1039-1041)GAG>CAG		N-acetylglucosaminyltransferase V							150.0	144.0	146.0					2																	135102562		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135102562G>C	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1039G>C	2.37:g.135102562G>C	ENSP00000386377:p.Glu347Gln						p.E347Q	NM_002410	NP_002401	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	8	1184	+			347			Lumenal (Potential).		D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.1039G>C	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761798	0.89932	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	L	0.54323	1.7	0.80722	D	1	D	0.54964	0.969	P	0.53313	0.723	T	0.73633	-0.3921	9	0.72032	D	0.01	-29.025	19.4972	0.95079	0.0:0.0:1.0:0.0	.	347	Q09328	MGT5A_HUMAN	Q	347	.	ENSP00000281923:E347Q	E	+	1	0	MGAT5	134819032	1.000000	0.71417	0.995000	0.50966	0.785000	0.44390	9.758000	0.98927	2.668000	0.90789	0.563000	0.77884	GAG		PASS	0.413	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		8	181	8	181	---	---	---	---
DARS	1615	broad.mit.edu	37	2	136700965	136700965	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:136700965C>G	ENST00000264161.4	-	5	621	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	DARS_ENST00000537273.1_Missense_Mutation_p.E36Q|DARS_ENST00000463008.1_5'UTR	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	136					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.E136Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ACATGTAACTCAACGTCTTGC	0.323																																						uc002tux.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(406-408)GAG>CAG		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						187.0	180.0	182.0					2																	136700965		2203	4299	6502	SO:0001583	missense	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136700965C>G	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.406G>C	2.37:g.136700965C>G	ENSP00000264161:p.Glu136Gln					DARS_uc010fnj.1_Missense_Mutation_p.E36Q	p.E136Q	NM_001349	NP_001340	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	5	590	-			136					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	37	c.406G>C	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636648	0.87760	.	.	ENSG00000115866	ENST00000264161;ENST00000537273;ENST00000441323;ENST00000456565;ENST00000449218	T;D;T;T;T	0.84800	1.53;-1.9;1.53;1.53;1.53	4.9	4.9	0.64082	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.090300	0.85682	D	0.000000	D	0.94899	0.8351	H	0.98199	4.17	0.80722	D	1	D	0.61697	0.99	P	0.60286	0.872	D	0.96691	0.9511	10	0.87932	D	0	-14.7068	18.2156	0.89884	0.0:1.0:0.0:0.0	.	136	P14868	SYDC_HUMAN	Q	136;36;103;103;103	ENSP00000264161:E136Q;ENSP00000444192:E36Q;ENSP00000389867:E103Q;ENSP00000397616:E103Q;ENSP00000388801:E103Q	ENSP00000264161:E136Q	E	-	1	0	DARS	136417435	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.427000	0.80284	2.700000	0.92200	0.563000	0.77884	GAG		PASS	0.323	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349		14	317	14	317	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141200073	141200073	+	Splice_Site	SNP	C	C	T	rs201825848		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:141200073C>T	ENST00000389484.3	-	66	11385	c.10414G>A	c.(10414-10416)Gat>Aat	p.D3472N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3472	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D3472N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGACACTCACCGCAGTTGGCC	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10414-10416)GAT>AAT		low density lipoprotein-related protein 1B		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	138.0	125.0	129.0		10414	5.5	1.0	2		129	0,8600		0,0,4300	yes	missense-near-splice	LRP1B	NM_018557.2	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	3472/4600	141200073	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141200073C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10414+1G>A	2.37:g.141200073C>T		TSP Lung(27;0.18)					p.D3472N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	66	11386	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3472			Extracellular (Potential).|LDL-receptor class A 24.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10414G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165302	0.78339	2.27E-4	0.0	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90069	-2.61	5.47	5.47	0.80525	.	0.000000	0.85682	U	0.000000	T	0.77718	0.4172	N	0.11724	0.165	0.52501	D	0.999952	B	0.22211	0.066	B	0.12837	0.008	T	0.72711	-0.4211	9	.	.	.	.	12.6541	0.56778	0.0:0.9244:0.0:0.0756	.	3472	Q9NZR2	LRP1B_HUMAN	N	3472;3410	ENSP00000374135:D3472N	.	D	-	1	0	LRP1B	140916543	1.000000	0.71417	0.999000	0.59377	0.814000	0.46013	4.092000	0.57707	2.558000	0.86282	0.557000	0.71058	GAT		PASS	0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation	10	118	10	118	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141272315	141272315	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:141272315C>A	ENST00000389484.3	-	51	9147	c.8176G>T	c.(8176-8178)Gct>Tct	p.A2726S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2726	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.A2726S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCGGAACAAGCAAATTGGTTC	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8176-8178)GCT>TCT		low density lipoprotein-related protein 1B							96.0	90.0	92.0					2																	141272315		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141272315C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8176G>T	2.37:g.141272315C>A	ENSP00000374135:p.Ala2726Ser	TSP Lung(27;0.18)					p.A2726S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	51	9148	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2726			Extracellular (Potential).|LDL-receptor class A 16.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8176G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185370	0.38609	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.35048	1.33	5.29	4.36	0.52297	.	0.075106	0.52532	U	0.000069	T	0.24084	0.0583	N	0.19112	0.55	0.43512	D	0.995775	B	0.28713	0.22	B	0.29942	0.109	T	0.04268	-1.0964	10	0.09843	T	0.71	.	16.5293	0.84354	0.0:0.8696:0.1303:0.0	.	2726	Q9NZR2	LRP1B_HUMAN	S	2726;2664	ENSP00000374135:A2726S	ENSP00000374135:A2726S	A	-	1	0	LRP1B	140988785	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.685000	0.54678	2.633000	0.89246	0.655000	0.94253	GCT		PASS	0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		23	113	23	113	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141272329	141272329	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:141272329G>T	ENST00000389484.3	-	51	9133	c.8162C>A	c.(8161-8163)tCt>tAt	p.S2721Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2721	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S2721Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGGTTCCAAGAGCAAGAAGA	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8161-8163)TCT>TAT		low density lipoprotein-related protein 1B							80.0	76.0	78.0					2																	141272329		2202	4300	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141272329G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8162C>A	2.37:g.141272329G>T	ENSP00000374135:p.Ser2721Tyr	TSP Lung(27;0.18)					p.S2721Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	51	9134	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2721			Extracellular (Potential).|LDL-receptor class A 16.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8162C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582302	0.65992	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.44881	0.91	5.29	5.29	0.74685	.	0.101724	0.41294	U	0.000901	T	0.61702	0.2368	M	0.64676	1.99	0.33157	D	0.546493	D	0.65815	0.995	D	0.63283	0.913	T	0.69781	-0.5052	10	0.56958	D	0.05	.	19.2903	0.94096	0.0:0.0:1.0:0.0	.	2721	Q9NZR2	LRP1B_HUMAN	Y	2721;2659	ENSP00000374135:S2721Y	ENSP00000374135:S2721Y	S	-	2	0	LRP1B	140988799	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.729000	0.62008	2.633000	0.89246	0.655000	0.94253	TCT		PASS	0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	109	13	109	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141474323	141474323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:141474323G>A	ENST00000389484.3	-	36	6792	c.5821C>T	c.(5821-5823)Cag>Tag	p.Q1941*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1941					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.Q1941*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCAAGTCTGATCTCTTTTA	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Nonsense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5821-5823)CAG>TAG		low density lipoprotein-related protein 1B							152.0	139.0	143.0					2																	141474323		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141474323G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5821C>T	2.37:g.141474323G>A	ENSP00000374135:p.Gln1941*	TSP Lung(27;0.18)					p.Q1941*	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	36	6793	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1941			Extracellular (Potential).|LDL-receptor class B 19.		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.5821C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	53	20.509202	0.99931	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.47	5.47	0.80525	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.3164	0.94215	0.0:0.0:1.0:0.0	.	.	.	.	X	1941;1879	.	ENSP00000374135:Q1941X	Q	-	1	0	LRP1B	141190793	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.560000	0.98139	2.572000	0.86782	0.460000	0.39030	CAG		PASS	0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	191	12	191	---	---	---	---
ORC4	5000	broad.mit.edu	37	2	148705764	148705764	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:148705764C>T	ENST00000392857.5	-	9	725	c.618G>A	c.(616-618)gtG>gtA	p.V206V	ORC4_ENST00000392858.1_Silent_p.V206V|ORC4_ENST00000540442.1_Silent_p.V132V|ORC4_ENST00000264169.2_Silent_p.V206V|ORC4_ENST00000535373.1_Silent_p.V206V|ORC4_ENST00000542387.1_5'UTR|ORC4_ENST00000536575.1_Silent_p.V122V	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	206					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.V206V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						ATCTTGACTTCACTCTTTTTT	0.299																																						uc002twi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(616-618)GTG>GTA		origin recognition complex subunit 4							65.0	76.0	72.0					2																	148705764		2201	4295	6496	SO:0001819	synonymous_variant	5000				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding	g.chr2:148705764C>T	AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.618G>A	2.37:g.148705764C>T						ORC4L_uc002twj.2_Silent_p.V206V|ORC4L_uc010zbo.1_Silent_p.V132V|ORC4L_uc010zbp.1_5'UTR|ORC4L_uc010fnr.2_Silent_p.V206V|ORC4L_uc010zbq.1_Silent_p.V122V|ORC4L_uc002twk.2_Silent_p.V206V|ORC4L_uc010zbr.1_Silent_p.V206V	p.V206V	NM_181741	NP_859525	O43929	ORC4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)	9	753	-			206					B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Silent	SNP	ENST00000392857.5	37	c.618G>A	CCDS2187.1																																																																																				PASS	0.299	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742		10	119	10	119	---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149247447	149247447	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:149247447G>C	ENST00000407073.1	+	12	4544	c.3547G>C	c.(3547-3549)Gaa>Caa	p.E1183Q	MBD5_ENST00000404807.1_Missense_Mutation_p.E1416Q	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1183					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.E1183Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGATGGGTTTGAATATTTCAA	0.493																																						uc002twm.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(3547-3549)GAA>CAA		methyl-CpG binding domain protein 5							88.0	94.0	92.0					2																	149247447		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149247447G>C	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3547G>C	2.37:g.149247447G>C	ENSP00000386049:p.Glu1183Gln					MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.E1183Q|MBD5_uc002two.2_Missense_Mutation_p.E441Q|MBD5_uc002twp.2_Missense_Mutation_p.E233Q	p.E1183Q	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	4535	+			1183					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.3547G>C	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387502	0.42308	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.50813	0.73;0.75	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000005	T	0.52725	0.1752	N	0.14661	0.345	0.54753	D	0.999983	D;D	0.58268	0.982;0.965	P;P	0.60345	0.873;0.786	T	0.57522	-0.7797	10	0.72032	D	0.01	-8.473	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1416;1183	E9PHH0;Q9P267	.;MBD5_HUMAN	Q	1183;1416	ENSP00000386049:E1183Q;ENSP00000384672:E1416Q	ENSP00000384672:E1416Q	E	+	1	0	MBD5	148963917	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	8.760000	0.91671	2.894000	0.99253	0.655000	0.94253	GAA		PASS	0.493	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			11	195	11	195	---	---	---	---
GALNT5	11227	broad.mit.edu	37	2	158115055	158115055	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:158115055C>G	ENST00000259056.4	+	1	946	c.461C>G	c.(460-462)tCc>tGc	p.S154C		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	154					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S154C(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CCTGAAGCCTCCTCTCACCAG	0.532																																						uc002tzg.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(460-462)TCC>TGC		N-acetylgalactosaminyltransferase 5							67.0	70.0	69.0					2																	158115055		2203	4300	6503	SO:0001583	missense	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158115055C>G	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.461C>G	2.37:g.158115055C>G	ENSP00000259056:p.Ser154Cys					GALNT5_uc010zci.1_RNA	p.S154C	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			1	716	+			154			Lumenal (Potential).		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	c.461C>G	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046391	0.55110	.	.	ENSG00000136542	ENST00000259056	T	0.59906	0.23	5.51	-0.69	0.11309	.	2.570540	0.01030	N	0.004120	T	0.48484	0.1502	L	0.32530	0.975	0.09310	N	1	P	0.51653	0.947	B	0.43916	0.436	T	0.42430	-0.9452	10	0.56958	D	0.05	.	4.7442	0.13029	0.1491:0.468:0.0:0.3829	.	154	Q7Z7M9	GALT5_HUMAN	C	154	ENSP00000259056:S154C	ENSP00000259056:S154C	S	+	2	0	GALNT5	157823301	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	0.020000	0.13466	-0.128000	0.11641	-0.136000	0.14681	TCC		PASS	0.532	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		15	143	15	143	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160806154	160806154	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:160806154G>C	ENST00000283243.7	-	25	3880	c.3674C>G	c.(3673-3675)tCa>tGa	p.S1225*	PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.S1225*	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1225	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.S1225*(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTGCAGAAATGACTCGCAGGC	0.448																																						uc002ube.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(3673-3675)TCA>TGA		phospholipase A2 receptor 1 isoform 1 precursor							68.0	66.0	67.0					2																	160806154		2203	4300	6503	SO:0001587	stop_gained	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160806154G>C	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3674C>G	2.37:g.160806154G>C	ENSP00000283243:p.Ser1225*					PLA2R1_uc010zcp.1_Nonsense_Mutation_p.S1225*|PLA2R1_uc002ubf.2_Nonsense_Mutation_p.S1225*	p.S1225*	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			25	3881	-			1225			Extracellular (Potential).|C-type lectin 7.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Nonsense_Mutation	SNP	ENST00000283243.7	37	c.3674C>G	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	42	9.749403	0.99255	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	.	.	.	5.8	5.8	0.92144	.	0.276768	0.25114	N	0.033026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	11.8442	0.52374	0.0:0.1852:0.6927:0.1221	.	.	.	.	X	1225	.	ENSP00000283243:S1225X	S	-	2	0	PLA2R1	160514400	1.000000	0.71417	0.993000	0.49108	0.897000	0.52465	3.460000	0.53028	2.744000	0.94065	0.655000	0.94253	TCA		PASS	0.448	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			14	76	14	76	---	---	---	---
IFIH1	64135	broad.mit.edu	37	2	163130385	163130385	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:163130385C>T	ENST00000263642.2	-	12	2769	c.2374G>A	c.(2374-2376)Gca>Aca	p.A792T		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	792	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.A792T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTTCTTCTGCCACTGTGGTA	0.338																																						uc002uce.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2374-2376)GCA>ACA		interferon induced with helicase C domain 1							152.0	141.0	145.0					2																	163130385		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163130385C>T	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2374G>A	2.37:g.163130385C>T	ENSP00000263642:p.Ala792Thr						p.A792T	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			12	2596	-			792			Helicase C-terminal.		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.2374G>A	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396754	0.96009	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.78481	-1.18	5.72	5.72	0.89469	Helicase, C-terminal (3);	0.047683	0.85682	D	0.000000	D	0.91988	0.7462	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93559	0.6893	10	0.87932	D	0	-13.4679	19.8829	0.96904	0.0:1.0:0.0:0.0	.	792	Q9BYX4	IFIH1_HUMAN	T	792	ENSP00000263642:A792T	ENSP00000263642:A792T	A	-	1	0	IFIH1	162838631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.693000	0.91896	0.655000	0.94253	GCA		PASS	0.338	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		33	148	33	148	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163374451	163374451	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:163374451G>T	ENST00000332142.5	-	4	780	c.681C>A	c.(679-681)ccC>ccA	p.P227P	KCNH7_ENST00000328032.4_Silent_p.P227P|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	227					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.P227P(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TATTCACCAAGGGAGAACATT	0.483																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)	5						c.(679-681)CCC>CCA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						153.0	149.0	150.0					2																	163374451		2202	4300	6502	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163374451G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.681C>A	2.37:g.163374451G>T						KCNH7_uc002uci.2_Silent_p.P227P	p.P227P	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			4	893	-			227			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.681C>A	CCDS2219.1																																																																																				PASS	0.483	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		43	199	43	199	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164468167	164468167	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:164468167T>C	ENST00000333129.3	-	3	489	c.175A>G	c.(175-177)Ata>Gta	p.I59V	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	59					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.I59V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AGAGCAGATATGTCATCATTC	0.493																																						uc002uck.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(175-177)ATA>GTA		fidgetin							140.0	137.0	138.0					2																	164468167		1996	4179	6175	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164468167T>C	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.175A>G	2.37:g.164468167T>C	ENSP00000333836:p.Ile59Val						p.I59V	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	486	-			59					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.175A>G	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	T	14.85	2.659448	0.47467	.	.	ENSG00000182263	ENST00000333129	T	0.31247	1.5	6.17	6.17	0.99709	.	0.000000	0.85682	U	0.000000	T	0.53916	0.1826	M	0.76574	2.34	0.80722	D	1	P	0.43314	0.803	P	0.55824	0.785	T	0.55108	-0.8192	10	0.87932	D	0	-29.1183	16.8222	0.85835	0.0:0.0:0.0:1.0	.	59	Q5HY92	FIGN_HUMAN	V	59	ENSP00000333836:I59V	ENSP00000333836:I59V	I	-	1	0	FIGN	164176413	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATA		PASS	0.493	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		91	224	91	224	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165994424	165994424	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:165994424C>T	ENST00000360093.3	-	15	2847	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K	SCN3A_ENST00000409101.3_Missense_Mutation_p.E737K|SCN3A_ENST00000283254.7_Missense_Mutation_p.E786K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	786					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.E786K(1)|p.E737K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGAATTGCTCAGTCATGGGG	0.383																																						uc002ucx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(2356-2358)GAG>AAG		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						124.0	116.0	118.0					2																	165994424		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165994424C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2356G>A	2.37:g.165994424C>T	ENSP00000353206:p.Glu786Lys					SCN3A_uc002ucy.2_Missense_Mutation_p.E737K|SCN3A_uc002ucz.2_Missense_Mutation_p.E737K|SCN3A_uc002uda.1_Missense_Mutation_p.E606K|SCN3A_uc002udb.1_Missense_Mutation_p.E606K	p.E786K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			15	2848	-			786					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2356G>A		.	.	.	.	.	.	.	.	.	.	C	9.925	1.213288	0.22289	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	5.86	3.92	0.45320	.	1.022890	0.07763	N	0.950430	D	0.93436	0.7906	N	0.17723	0.515	0.09310	N	1	B;B;B;B;B	0.14438	0.001;0.008;0.01;0.01;0.001	B;B;B;B;B	0.15870	0.001;0.004;0.014;0.014;0.007	T	0.75926	-0.3145	10	0.07644	T	0.81	.	18.095	0.89487	0.0:0.6783:0.3217:0.0	.	786;737;737;737;786	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	K	786;786;737;737	ENSP00000353206:E786K;ENSP00000283254:E786K;ENSP00000386726:E737K;ENSP00000403348:E737K	ENSP00000283254:E786K	E	-	1	0	SCN3A	165702670	0.000000	0.05858	0.229000	0.23960	0.794000	0.44872	-0.220000	0.09215	1.604000	0.50143	-0.182000	0.12963	GAG		PASS	0.383	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		25	137	25	137	---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166786171	166786171	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:166786171C>A	ENST00000243344.7	-	10	1311	c.1174G>T	c.(1174-1176)Gga>Tga	p.G392*		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	392					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.G392*(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GCAGATTTTCCAATGGATTGC	0.323																																						uc002udk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(1174-1176)GGA>TGA		tetratricopeptide repeat domain 21B							72.0	66.0	68.0					2																	166786171		2203	4300	6503	SO:0001587	stop_gained	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166786171C>A	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1174G>T	2.37:g.166786171C>A	ENSP00000243344:p.Gly392*					TTC21B_uc002udl.2_Nonsense_Mutation_p.G392*	p.G392*	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			10	1307	-			392					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Nonsense_Mutation	SNP	ENST00000243344.7	37	c.1174G>T	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	37	6.358829	0.97502	.	.	ENSG00000123607	ENST00000243344	.	.	.	5.05	5.05	0.67936	.	0.109253	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-8.6034	14.8753	0.70491	0.1439:0.8561:0.0:0.0	.	.	.	.	X	392	.	ENSP00000243344:G392X	G	-	1	0	TTC21B	166494417	1.000000	0.71417	0.984000	0.44739	0.944000	0.59088	4.753000	0.62183	2.350000	0.79820	0.585000	0.79938	GGA		PASS	0.323	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		23	67	23	67	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168100159	168100159	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:168100159G>A	ENST00000409195.1	+	9	2346	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	XIRP2_ENST00000409273.1_Missense_Mutation_p.E531K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E753K|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	578					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E753K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAAATGCTGGAAATTAAAAC	0.363																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(2257-2259)GAA>AAA		xin actin-binding repeat containing 2 isoform 1							67.0	61.0	63.0					2																	168100159		1856	4087	5943	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100159G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2257G>A	2.37:g.168100159G>A	ENSP00000386840:p.Glu753Lys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E578K|XIRP2_uc010fpq.2_Missense_Mutation_p.E531K|XIRP2_uc010fpr.2_Intron	p.E753K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2275	+			578					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2257G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886969	0.72410	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.04917	3.54;3.54;3.53	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	L	0.52126	1.63	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.994;0.985;0.985	T	0.00018	-1.2368	10	0.72032	D	0.01	-23.554	20.3213	0.98679	0.0:0.0:1.0:0.0	.	578;578;531	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	753;753;531	ENSP00000386840:E753K;ENSP00000295237:E753K;ENSP00000387255:E531K	ENSP00000295237:E753K	E	+	1	0	XIRP2	167808405	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.788000	0.55446	2.810000	0.96702	0.650000	0.86243	GAA		PASS	0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		9	137	9	137	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170012911	170012911	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:170012911G>A	ENST00000263816.3	-	65	12309	c.12024C>T	c.(12022-12024)atC>atT	p.I4008I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4008	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.I4008I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CACATTCATTGATATCTGTAG	0.418																																						uc002ues.2																			1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12022-12024)ATC>ATT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						161.0	151.0	154.0					2																	170012911		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170012911G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12024C>T	2.37:g.170012911G>A							p.I4008I	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	65	12237	-			4008			EGF-like 15; calcium-binding (Potential).|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.12024C>T	CCDS2232.1																																																																																				PASS	0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		11	169	11	169	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170097688	170097688	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:170097688G>A	ENST00000263816.3	-	25	4140	c.3855C>T	c.(3853-3855)caC>caT	p.H1285H	LRP2_ENST00000443831.1_Silent_p.H1148H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1285	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.H1285H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GCCATGCCCTGTGGATGCAGT	0.527																																						uc002ues.2																			1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(3853-3855)CAC>CAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						176.0	139.0	152.0					2																	170097688		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170097688G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3855C>T	2.37:g.170097688G>A						LRP2_uc010zdf.1_Silent_p.H1148H	p.H1285H	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	25	4068	-			1285			LDL-receptor class A 14.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.3855C>T	CCDS2232.1																																																																																				PASS	0.527	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		81	182	81	182	---	---	---	---
HOXD4	3233	broad.mit.edu	37	2	177017467	177017467	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:177017467C>T	ENST00000306324.3	+	2	977	c.565C>T	c.(565-567)Cac>Tac	p.H189Y	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	189					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H189Y(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		TGAAATCGCTCACACCCTGTG	0.512																																						uc002uks.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(565-567)CAC>TAC		homeobox D4							81.0	82.0	82.0					2																	177017467		2203	4300	6503	SO:0001583	missense	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177017467C>T		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.565C>T	2.37:g.177017467C>T	ENSP00000302548:p.His189Tyr						p.H189Y	NM_014621	NP_055436	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	814	+			189			Homeobox.		B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	37	c.565C>T	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887676	0.72410	.	.	ENSG00000170166	ENST00000306324	D	0.96136	-3.92	5.38	5.38	0.77491	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95046	0.8396	N	0.11313	0.125	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96784	0.9577	10	0.87932	D	0	.	19.1342	0.93420	0.0:1.0:0.0:0.0	.	189	P09016	HXD4_HUMAN	Y	189	ENSP00000302548:H189Y	ENSP00000302548:H189Y	H	+	1	0	HOXD4	176725713	1.000000	0.71417	0.998000	0.56505	0.867000	0.49689	7.811000	0.86092	2.516000	0.84829	0.643000	0.83706	CAC		PASS	0.512	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			19	233	19	233	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179453829	179453829	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:179453829C>T	ENST00000591111.1	-	254	57924	c.57700G>A	c.(57700-57702)Gat>Aat	p.D19234N	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D12002N|TTN_ENST00000359218.5_Missense_Mutation_p.D11935N|TTN_ENST00000460472.2_Missense_Mutation_p.D11810N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D20875N|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D18307N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19234	Fibronectin type-III 39. {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.D18305N(1)|p.D11935N(1)|p.D18307N(1)|p.D12002N(1)|p.D11810N(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)			CTGGACACATCAACAATTTTC	0.418																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(54919-54921)GAT>AAT		titin isoform N2-A							69.0	68.0	68.0					2																	179453829		1921	4130	6051	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453829C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.57700G>A	2.37:g.179453829C>T	ENSP00000465570:p.Asp19234Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D12002N|TTN_uc010zfi.1_Missense_Mutation_p.D11935N|TTN_uc010zfj.1_Missense_Mutation_p.D11810N	p.D18307N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	55143	-			19234					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.54919G>A		.	.	.	.	.	.	.	.	.	.	C	13.29	2.192223	0.38707	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.02	5.14	0.70334	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48732	0.1516	L	0.48218	1.51	0.44995	D	0.998019	B;B;B;B	0.13145	0.007;0.007;0.007;0.007	B;B;B;B	0.14578	0.011;0.011;0.011;0.011	T	0.47195	-0.9136	9	0.87932	D	0	.	15.0354	0.71741	0.0:0.9325:0.0:0.0675	.	11810;11935;12002;19234	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	18307;11810;12002;11935;11808	ENSP00000343764:D18307N;ENSP00000434586:D11810N;ENSP00000340554:D12002N;ENSP00000352154:D11935N	ENSP00000340554:D12002N	D	-	1	0	TTN	179162075	1.000000	0.71417	0.891000	0.34965	0.993000	0.82548	3.985000	0.56930	1.558000	0.49541	0.650000	0.86243	GAT		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	92	26	92	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179458966	179458966	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:179458966G>C	ENST00000591111.1	-	247	53455	c.53231C>G	c.(53230-53232)cCc>cGc	p.P17744R	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P10512R|TTN_ENST00000359218.5_Missense_Mutation_p.P10445R|TTN_ENST00000460472.2_Missense_Mutation_p.P10320R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P19385R|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P16817R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17744					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.P16817R(1)|p.P16815R(1)|p.P10320R(1)|p.P10512R(1)|p.P10445R(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)			AAGCGTTGGGGGTGCTAAAAT	0.393																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(50449-50451)CCC>CGC		titin isoform N2-A							53.0	52.0	52.0					2																	179458966		1875	4102	5977	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458966G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53231C>G	2.37:g.179458966G>C	ENSP00000465570:p.Pro17744Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P10512R|TTN_uc010zfi.1_Missense_Mutation_p.P10445R|TTN_uc010zfj.1_Missense_Mutation_p.P10320R	p.P16817R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		246	50674	-			17744					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50450C>G		.	.	.	.	.	.	.	.	.	.	G	15.67	2.903427	0.52333	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63580	-0.05;0.15;0.13;0.11	6.17	6.17	0.99709	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75961	0.3921	L	0.43646	1.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.75425	-0.3322	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	10320;10445;10512;17744	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	16817;10320;10512;10445;10318	ENSP00000343764:P16817R;ENSP00000434586:P10320R;ENSP00000340554:P10512R;ENSP00000352154:P10445R	ENSP00000340554:P10512R	P	-	2	0	TTN	179167212	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.793000	0.99091	2.941000	0.99782	0.655000	0.94253	CCC		PASS	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	76	20	76	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179544672	179544672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:179544672C>A	ENST00000591111.1	-	138	32802	c.32578G>T	c.(32578-32580)Gaa>Taa	p.E10860*	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E11177*|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E9933*			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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.E9933*(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)			AACTCCTCTTCTTCATGAATG	0.428																																						uc010zfg.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(29797-29799)GAA>TAA		titin isoform N2-A							164.0	147.0	152.0					2																	179544672		1928	4125	6053	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179544672C>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.32578G>T	2.37:g.179544672C>A	ENSP00000465570:p.Glu10860*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E6594*|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	p.E9933*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		137	30021	-			10860					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.29797G>T		.	.	.	.	.	.	.	.	.	.	C	60	48.358248	0.99987	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.9701	0.64235	0.0:0.9285:0.0:0.0715	.	.	.	.	X	9933	.	ENSP00000343764:E9933X	E	-	1	0	TTN	179252917	0.998000	0.40836	1.000000	0.80357	0.895000	0.52256	1.617000	0.36943	2.861000	0.98227	0.655000	0.94253	GAA		PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	99	23	99	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179598557	179598557	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:179598557G>T	ENST00000591111.1	-	51	14832	c.14608C>A	c.(14608-14610)Ctg>Atg	p.L4870M	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L5187M|TTN_ENST00000342992.6_Missense_Mutation_p.L3943M			Q8WZ42	TITIN_HUMAN	titin	12252	Ig-like 29.				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.L3943M(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)			GCAGCTTGCAGGGTAACGGTT	0.408																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11827-11829)CTG>ATG		titin isoform N2-A							123.0	118.0	119.0					2																	179598557		1939	4144	6083	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598557G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14608C>A	2.37:g.179598557G>T	ENSP00000465570:p.Leu4870Met					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L604M	p.L3943M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		50	12051	-			4870					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11827C>A		.	.	.	.	.	.	.	.	.	.	G	10.68	1.419087	0.25552	.	.	ENSG00000155657	ENST00000342992	T	0.74842	-0.88	5.99	3.64	0.41730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.70527	0.3234	M	0.64260	1.97	0.80722	D	1	P	0.47604	0.898	P	0.45167	0.472	T	0.69079	-0.5240	9	0.87932	D	0	.	5.2814	0.15678	0.7285:0.0:0.1415:0.13	.	4870	Q8WZ42	TITIN_HUMAN	M	3943	ENSP00000343764:L3943M	ENSP00000343764:L3943M	L	-	1	2	TTN	179306802	1.000000	0.71417	0.990000	0.47175	0.894000	0.52154	3.275000	0.51639	0.515000	0.28320	-0.302000	0.09304	CTG		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		44	153	44	153	---	---	---	---
ZNF385B	151126	broad.mit.edu	37	2	180309645	180309645	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:180309645G>A	ENST00000410066.1	-	9	1758	c.1155C>T	c.(1153-1155)taC>taT	p.Y385Y	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_Silent_p.Y283Y|ZNF385B_ENST00000409692.1_Silent_p.Y283Y|ZNF385B_ENST00000409343.1_Silent_p.Y309Y	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	385	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)	p.Y385Y(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TGTAAGGGCTGTATTTTGGCT	0.488																																					Colon(155;204 2491 32774 51842)	uc002unn.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1153-1155)TAC>TAT		zinc finger protein 385B isoform 1							253.0	246.0	249.0					2																	180309645		2203	4300	6503	SO:0001819	synonymous_variant	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180309645G>A	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1155C>T	2.37:g.180309645G>A						ZNF385B_uc002unj.2_Silent_p.Y283Y|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.Y282Y|ZNF385B_uc002unm.2_Silent_p.Y309Y	p.Y385Y	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		9	1759	-			385					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	c.1155C>T	CCDS33339.1																																																																																				PASS	0.488	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		18	526	18	526	---	---	---	---
PDE1A	5136	broad.mit.edu	37	2	183099170	183099170	+	Missense_Mutation	SNP	C	C	A	rs148461027		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:183099170C>A	ENST00000410103.1	-	5	537	c.454G>T	c.(454-456)Gta>Tta	p.V152L	PDE1A_ENST00000351439.5_Missense_Mutation_p.V136L|PDE1A_ENST00000409365.1_Missense_Mutation_p.V136L|PDE1A_ENST00000536095.1_Missense_Mutation_p.V48L|PDE1A_ENST00000358139.2_Missense_Mutation_p.V152L|PDE1A_ENST00000346717.4_Missense_Mutation_p.V118L|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000435564.1_Missense_Mutation_p.V152L|PDE1A_ENST00000331935.6_Missense_Mutation_p.V152L|PDE1A_ENST00000456212.1_Missense_Mutation_p.V152L	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	152					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.V152L(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TTTAATGTTACGATGACAGCT	0.269																																						uc002uos.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(454-456)GTA>TTA		phosphodiesterase 1A isoform 2							77.0	76.0	76.0					2																	183099170		2203	4295	6498	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183099170C>A		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.454G>T	2.37:g.183099170C>A	ENSP00000387037:p.Val152Leu					PDE1A_uc010zfp.1_Missense_Mutation_p.V48L|PDE1A_uc002uoq.1_Missense_Mutation_p.V152L|PDE1A_uc010zfq.1_Missense_Mutation_p.V152L|PDE1A_uc002uor.2_Missense_Mutation_p.V136L|PDE1A_uc002uou.2_Missense_Mutation_p.V118L	p.V152L	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		5	538	-			152					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.454G>T	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525357	0.27299	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.69685	-0.42;-0.41;-0.42;-0.4;-0.42;-0.41;-0.41;-0.41;-0.42	5.15	3.32	0.38043	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.367187	0.28230	N	0.016109	T	0.53094	0.1775	L	0.33485	1.01	0.23198	N	0.998138	B;B;B;B;B	0.21309	0.001;0.054;0.002;0.031;0.001	B;B;B;B;B	0.26310	0.007;0.068;0.002;0.042;0.016	T	0.45556	-0.9253	10	0.38643	T	0.18	.	8.7297	0.34491	0.0:0.7619:0.0:0.2381	.	48;118;152;136;152	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	L	152;118;48;136;152;136;152;152;152	ENSP00000410309:V152L;ENSP00000329112:V118L;ENSP00000439938:V48L;ENSP00000386767:V136L;ENSP00000331574:V152L;ENSP00000309269:V136L;ENSP00000387037:V152L;ENSP00000350858:V152L;ENSP00000408874:V152L	ENSP00000331574:V152L	V	-	1	0	PDE1A	182807415	0.000000	0.05858	1.000000	0.80357	0.929000	0.56500	-0.383000	0.07398	1.155000	0.42497	0.650000	0.86243	GTA		PASS	0.269	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			18	74	18	74	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185731138	185731138	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:185731138G>A	ENST00000302277.6	+	2	748	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	52							metal ion binding (GO:0046872)	p.D52N(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGCTCTGGAAGATCTGAAGGC	0.373																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(154-156)GAT>AAT		zinc finger protein 804A							75.0	73.0	74.0					2																	185731138		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185731138G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.154G>A	2.37:g.185731138G>A	ENSP00000303252:p.Asp52Asn						p.D52N	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			2	748	+			52					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.154G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478977	0.96307	.	.	ENSG00000170396	ENST00000302277	T	0.08984	3.03	5.68	5.68	0.88126	.	0.077585	0.47852	D	0.000219	T	0.19525	0.0469	N	0.24115	0.695	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.01202	-1.1420	10	0.72032	D	0.01	-21.6524	19.1431	0.93452	0.0:0.0:1.0:0.0	.	52	Q7Z570	Z804A_HUMAN	N	52	ENSP00000303252:D52N	ENSP00000303252:D52N	D	+	1	0	ZNF804A	185439383	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	9.755000	0.98912	2.838000	0.97847	0.591000	0.81541	GAT		PASS	0.373	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		16	95	16	95	---	---	---	---
DIRC1	116093	broad.mit.edu	37	2	189599558	189599558	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:189599558C>A	ENST00000308100.4	-	2	360	c.90G>T	c.(88-90)ttG>ttT	p.L30F	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	30								p.L30F(1)		large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			TGAGTGGTGGCAAGTAACAGG	0.512																																						uc002uqi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(88-90)TTG>TTT		disrupted in renal carcinoma 1							128.0	121.0	123.0					2																	189599558		2203	4300	6503	SO:0001583	missense	116093							g.chr2:189599558C>A	AY039011	CCDS2296.1	2q33	2008-05-22			ENSG00000174325	ENSG00000174325			15760	protein-coding gene	gene with protein product		606423				11587072	Standard	NM_052952		Approved		uc002uqi.1	Q969H9	OTTHUMG00000132646	ENST00000308100.4:c.90G>T	2.37:g.189599558C>A	ENSP00000307860:p.Leu30Phe						p.L30F	NM_052952	NP_443184	Q969H9	DIRC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)		2	361	-			30					Q08AK1	Missense_Mutation	SNP	ENST00000308100.4	37	c.90G>T	CCDS2296.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.391873	0.25118	.	.	ENSG00000174325	ENST00000308100	T	0.36878	1.23	3.0	0.163	0.14986	.	.	.	.	.	T	0.16769	0.0403	N	0.08118	0	0.09310	N	1	B	0.22683	0.073	B	0.23018	0.043	T	0.22277	-1.0221	9	0.87932	D	0	.	3.4359	0.07445	0.0:0.5333:0.2157:0.2509	.	30	Q969H9	DIRC1_HUMAN	F	30	ENSP00000307860:L30F	ENSP00000307860:L30F	L	-	3	2	DIRC1	189307803	0.001000	0.12720	0.000000	0.03702	0.225000	0.24961	0.019000	0.13444	0.002000	0.14630	-0.150000	0.13652	TTG		PASS	0.512	DIRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255897.2	NM_052952		18	211	18	211	---	---	---	---
SLC39A10	57181	broad.mit.edu	37	2	196578165	196578165	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:196578165G>A	ENST00000409086.3	+	6	1859	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q	SLC39A10_ENST00000541054.1_Silent_p.Q78Q|SLC39A10_ENST00000359634.5_Silent_p.Q528Q	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	528					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.Q528Q(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AGGGAAAACAGAAATGGTTTA	0.313																																						uc002utg.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1582-1584)CAG>CAA		solute carrier family 39 (zinc transporter),							51.0	51.0	51.0					2																	196578165		2203	4300	6503	SO:0001819	synonymous_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196578165G>A		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1584G>A	2.37:g.196578165G>A						SLC39A10_uc002uth.3_Silent_p.Q528Q|SLC39A10_uc010zgp.1_Silent_p.Q78Q	p.Q528Q	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		6	1798	+			528					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	c.1584G>A	CCDS33353.1																																																																																				PASS	0.313	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		5	55	5	55	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196709816	196709816	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:196709816C>T	ENST00000312428.6	-	47	8955	c.8855G>A	c.(8854-8856)gGt>gAt	p.G2952D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2952					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.G2952D(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCCAGGGTACCCATAAGAGA	0.378																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(8854-8856)GGT>GAT		dynein, axonemal, heavy chain 7							118.0	109.0	112.0					2																	196709816		1855	4107	5962	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196709816C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8855G>A	2.37:g.196709816C>T	ENSP00000311273:p.Gly2952Asp						p.G2952D	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			47	8956	-			2952					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.8855G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	2.124	-0.400679	0.04865	.	.	ENSG00000118997	ENST00000312428	T	0.41400	1.0	5.42	3.64	0.41730	.	0.796371	0.11339	N	0.574229	T	0.18509	0.0444	N	0.04994	-0.135	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29640	-1.0005	10	0.11485	T	0.65	.	5.1305	0.14907	0.0:0.5598:0.195:0.2452	.	2952	Q8WXX0	DYH7_HUMAN	D	2952	ENSP00000311273:G2952D	ENSP00000311273:G2952D	G	-	2	0	DNAH7	196418061	0.012000	0.17670	0.013000	0.15412	0.493000	0.33554	1.119000	0.31258	0.858000	0.35431	0.650000	0.86243	GGT		PASS	0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		30	77	30	77	---	---	---	---
C2orf66	401027	broad.mit.edu	37	2	197674075	197674075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:197674075G>A	ENST00000342506.2	-	1	925	c.37C>T	c.(37-39)Cag>Tag	p.Q13*		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	13						extracellular region (GO:0005576)		p.Q13*(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						GAGTGAAGCTGAGTGAAAGAG	0.498																																						uc002utv.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(37-39)CAG>TAG		hypothetical protein LOC401027 precursor							165.0	151.0	156.0					2																	197674075		2203	4300	6503	SO:0001587	stop_gained	401027					extracellular region		g.chr2:197674075G>A		CCDS2317.1	2q33.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000187944	ENSG00000187944			33809	protein-coding gene	gene with protein product							Standard	NM_213608		Approved	UNQ6411	uc002utv.3	Q6UXQ4	OTTHUMG00000132742	ENST00000342506.2:c.37C>T	2.37:g.197674075G>A	ENSP00000339384:p.Gln13*						p.Q13*	NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN			1	926	-			13					B2RNW3	Nonsense_Mutation	SNP	ENST00000342506.2	37	c.37C>T	CCDS2317.1	.	.	.	.	.	.	.	.	.	.	G	40	8.133395	0.98670	.	.	ENSG00000187944	ENST00000342506	.	.	.	4.03	1.61	0.23674	.	0.551758	0.13785	N	0.362975	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-2.641	7.4423	0.27190	0.3381:0.0:0.6619:0.0	.	.	.	.	X	13	.	ENSP00000339384:Q13X	Q	-	1	0	C2orf66	197382320	0.002000	0.14202	0.012000	0.15200	0.050000	0.14768	0.557000	0.23454	0.409000	0.25649	0.462000	0.41574	CAG		PASS	0.498	C2orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256102.1	NM_213608		43	224	43	224	---	---	---	---
FAM117B	150864	broad.mit.edu	37	2	203591054	203591054	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:203591054C>T	ENST00000392238.2	+	4	928	c.928C>T	c.(928-930)Cat>Tat	p.H310Y	FAM117B_ENST00000303116.6_Missense_Mutation_p.H66Y			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	310								p.H310Y(1)|p.H66Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GTCTCCATTTCATGGCAACCA	0.388																																						uc010zhx.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(928-930)CAT>TAT		amyotrophic lateral sclerosis 2 (juvenile)							152.0	143.0	146.0					2																	203591054		2203	4300	6503	SO:0001583	missense	150864							g.chr2:203591054C>T	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.928C>T	2.37:g.203591054C>T	ENSP00000376071:p.His310Tyr						p.H310Y	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN			4	938	+			310					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	ENST00000392238.2	37	c.928C>T	CCDS33362.2	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782822	0.70222	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.62	5.62	0.85841	.	0.046027	0.85682	D	0.000000	T	0.66346	0.2780	L	0.34521	1.04	0.45150	D	0.998165	D	0.67145	0.996	P	0.61477	0.889	T	0.68326	-0.5438	9	0.66056	D	0.02	-17.8475	19.2497	0.93919	0.0:1.0:0.0:0.0	.	310	Q6P1L5	F117B_HUMAN	Y	66;310	.	ENSP00000306299:H66Y	H	+	1	0	FAM117B	203299299	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.906000	0.63293	2.644000	0.89710	0.563000	0.77884	CAT		PASS	0.388	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		9	154	9	154	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210560660	210560660	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:210560660C>G	ENST00000360351.4	+	7	4272	c.3766C>G	c.(3766-3768)Cag>Gag	p.Q1256E	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.Q1252E|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1256					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.Q1256E(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGACACCCTTCAGATAACTGA	0.488																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(3766-3768)CAG>GAG		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						97.0	101.0	100.0					2																	210560660		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560660C>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3766C>G	2.37:g.210560660C>G	ENSP00000353508:p.Gln1256Glu					MAP2_uc002vdc.1_Missense_Mutation_p.Q1256E|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.Q1252E	p.Q1256E	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	4014	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1256					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3766C>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768587	0.31320	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.22336	1.96;1.96	5.73	5.73	0.89815	MAP2/Tau projection (1);	0.000000	0.56097	D	0.000032	T	0.36166	0.0957	L	0.56769	1.78	0.38068	D	0.936275	P;P	0.52577	0.943;0.954	P;P	0.52554	0.576;0.702	T	0.04413	-1.0953	10	0.37606	T	0.19	-11.7774	18.8865	0.92379	0.0:1.0:0.0:0.0	.	1252;1256	P11137-3;P11137	.;MAP2_HUMAN	E	1256;1252	ENSP00000353508:Q1256E;ENSP00000392164:Q1252E	ENSP00000353508:Q1256E	Q	+	1	0	MAP2	210268905	0.990000	0.36364	1.000000	0.80357	0.394000	0.30568	1.794000	0.38774	2.718000	0.92993	0.650000	0.86243	CAG		PASS	0.488	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		24	150	24	150	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210574737	210574737	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:210574737C>T	ENST00000360351.4	+	12	5338	c.4832C>T	c.(4831-4833)tCa>tTa	p.S1611L	MAP2_ENST00000199940.6_Missense_Mutation_p.S312L|MAP2_ENST00000447185.1_Missense_Mutation_p.S1607L|MAP2_ENST00000392194.1_Missense_Mutation_p.S255L|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Missense_Mutation_p.S255L	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1611					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.S312L(1)|p.S1611L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGTTATTCTTCACGCACACCA	0.582																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			2	Substitution - Missense(2)		lung(2)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(4831-4833)TCA>TTA		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						133.0	119.0	124.0					2																	210574737		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210574737C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4832C>T	2.37:g.210574737C>T	ENSP00000353508:p.Ser1611Leu					MAP2_uc002vdd.1_Missense_Mutation_p.S312L|MAP2_uc002vdf.1_Missense_Mutation_p.S255L|MAP2_uc002vdg.1_Missense_Mutation_p.S255L|MAP2_uc002vdh.1_Missense_Mutation_p.S312L|MAP2_uc002vdi.1_Missense_Mutation_p.S1607L	p.S1611L	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	5080	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1611					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.4832C>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669838	0.47677	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.26373	1.74;2.97;2.09;2.09;2.97	5.44	4.57	0.56435	.	0.128780	0.35646	N	0.003068	T	0.35307	0.0927	N	0.24115	0.695	0.47308	D	0.99938	D;P;D;D;P	0.89917	1.0;0.617;0.987;0.997;0.885	D;B;D;D;P	0.85130	0.997;0.121;0.942;0.976;0.599	T	0.08006	-1.0743	10	0.27785	T	0.31	-12.4009	14.54	0.67987	0.0:0.9291:0.0:0.0709	.	1607;255;256;1611;312	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	L	312;1611;255;255;1607	ENSP00000199940:S312L;ENSP00000353508:S1611L;ENSP00000355290:S255L;ENSP00000376032:S255L;ENSP00000392164:S1607L	ENSP00000199940:S312L	S	+	2	0	MAP2	210282982	1.000000	0.71417	0.997000	0.53966	0.008000	0.06430	4.608000	0.61141	1.422000	0.47177	-0.140000	0.14226	TCA		PASS	0.582	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		18	189	18	189	---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215813451	215813451	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:215813451G>C	ENST00000272895.7	-	47	7192	c.6973C>G	c.(6973-6975)Cac>Gac	p.H2325D	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.H2007D	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2325	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.H2325D(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAATCAACGTGACCCAGAGAT	0.423																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(6973-6975)CAC>GAC		ATP-binding cassette, sub-family A, member 12							84.0	75.0	78.0					2																	215813451		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215813451G>C	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6973C>G	2.37:g.215813451G>C	ENSP00000272895:p.His2325Asp					ABCA12_uc002vev.2_Missense_Mutation_p.H2007D|ABCA12_uc010zjn.1_Missense_Mutation_p.H1252D	p.H2325D	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	47	7193	-		Renal(323;0.127)	2325			ABC transporter 2.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.6973C>G	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	0.556	-0.847516	0.02651	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.76839	-1.05;-1.05	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.288040	0.24412	N	0.038749	T	0.53498	0.1800	N	0.04768	-0.165	0.44136	D	0.99692	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.53136	-0.8481	10	0.02654	T	1	.	12.2509	0.54597	0.0:0.0:0.786:0.214	.	2325;2007	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	D	2325;2007	ENSP00000272895:H2325D;ENSP00000374312:H2007D	ENSP00000272895:H2325D	H	-	1	0	ABCA12	215521696	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	3.498000	0.53302	2.572000	0.86782	0.655000	0.94253	CAC		PASS	0.423	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		33	128	33	128	---	---	---	---
ATIC	471	broad.mit.edu	37	2	216191601	216191601	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:216191601G>T	ENST00000236959.9	+	7	914	c.588G>T	c.(586-588)caG>caT	p.Q196H	ATIC_ENST00000540518.1_Missense_Mutation_p.Q137H|ATIC_ENST00000435675.1_Missense_Mutation_p.Q195H	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	196					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)	p.Q196H(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	TCAGGAAACAGTACAGCAAAG	0.463			T	ALK	ALCL																																	uc002vex.3				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1)	29						c.(586-588)CAG>CAT		5-aminoimidazole-4-carboxamide ribonucleotide	Tetrahydrofolic acid(DB00116)						176.0	161.0	166.0					2																	216191601		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216191601G>T		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.588G>T	2.37:g.216191601G>T	ENSP00000236959:p.Gln196His					ATIC_uc010zjo.1_Missense_Mutation_p.Q137H|ATIC_uc002vey.3_Missense_Mutation_p.Q195H	p.Q196H	NM_004044	NP_004035	P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	7	762	+		Renal(323;0.229)	196					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.588G>T	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781349	0.70222	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000413174	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.86	1.51	0.23008	Methylglyoxal synthase-like domain (1);	0.335973	0.35436	N	0.003204	T	0.81494	0.4834	M	0.74389	2.26	0.80722	D	1	P;P	0.49559	0.872;0.925	P;P	0.52646	0.539;0.705	T	0.80993	-0.1134	10	0.49607	T	0.09	-14.3501	11.9135	0.52753	0.2837:0.0:0.7163:0.0	.	195;196	E9PBU3;P31939	.;PUR9_HUMAN	H	196;137;195;137	ENSP00000236959:Q196H;ENSP00000440523:Q137H;ENSP00000415935:Q195H;ENSP00000402393:Q137H	ENSP00000236959:Q196H	Q	+	3	2	ATIC	215899846	1.000000	0.71417	0.978000	0.43139	0.809000	0.45718	3.980000	0.56895	0.381000	0.24851	-0.136000	0.14681	CAG		PASS	0.463	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		138	358	138	358	---	---	---	---
STK36	27148	broad.mit.edu	37	2	219563856	219563856	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:219563856A>G	ENST00000295709.3	+	26	3868	c.3589A>G	c.(3589-3591)Atg>Gtg	p.M1197V	STK36_ENST00000392105.3_Missense_Mutation_p.M1176V|STK36_ENST00000440309.1_Missense_Mutation_p.M1197V|STK36_ENST00000392106.2_Missense_Mutation_p.M1176V	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.M1197V(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGTGCCCAGTATGACCCAGCT	0.592																																						uc002viu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(3589-3591)ATG>GTG		serine/threonine kinase 36							44.0	41.0	42.0					2																	219563856		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219563856A>G	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3589A>G	2.37:g.219563856A>G	ENSP00000295709:p.Met1197Val					STK36_uc002viv.2_Missense_Mutation_p.M1176V|STK36_uc002viw.2_Missense_Mutation_p.M375V|STK36_uc002vix.2_Missense_Mutation_p.M242V	p.M1197V	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	26	3855	+		Renal(207;0.0915)	1197						Missense_Mutation	SNP	ENST00000295709.3	37	c.3589A>G	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	A	3.279	-0.147455	0.06627	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.48201	0.82;0.82;2.42;0.82	5.38	0.196	0.15159	Armadillo-like helical (1);Armadillo-type fold (1);	0.560903	0.16515	N	0.211100	T	0.21145	0.0509	N	0.12182	0.205	0.18873	N	0.999981	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.08994	-1.0695	10	0.27785	T	0.31	-1.9499	1.3743	0.02217	0.2725:0.3671:0.2222:0.1382	.	1176;1176;1197	A8MU99;Q9NRP7-2;Q9NRP7	.;.;STK36_HUMAN	V	1197;1176;1176;1197	ENSP00000295709:M1197V;ENSP00000375955:M1176V;ENSP00000375954:M1176V;ENSP00000394095:M1197V	ENSP00000295709:M1197V	M	+	1	0	STK36	219272100	0.070000	0.21116	0.586000	0.28679	0.598000	0.36846	0.157000	0.16402	0.117000	0.18138	0.533000	0.62120	ATG		PASS	0.592	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			40	103	40	103	---	---	---	---
TTLL4	9654	broad.mit.edu	37	2	219614860	219614860	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:219614860C>G	ENST00000392102.1	+	15	3204	c.2864C>G	c.(2863-2865)tCc>tGc	p.S955C	TTLL4_ENST00000442769.1_Missense_Mutation_p.S891C|TTLL4_ENST00000457313.1_Missense_Mutation_p.S790C|TTLL4_ENST00000258398.4_Missense_Mutation_p.S955C	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	955					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)	p.S955C(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TGCAGCAGCTCCACCACCAGG	0.537																																					GBM(172;1818 2053 15407 20943 49753)	uc002viy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2863-2865)TCC>TGC		tubulin tyrosine ligase-like family, member 4							97.0	96.0	96.0					2																	219614860		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219614860C>G		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2864C>G	2.37:g.219614860C>G	ENSP00000375951:p.Ser955Cys					TTLL4_uc010zkl.1_Missense_Mutation_p.S790C|TTLL4_uc010fvx.2_Missense_Mutation_p.S891C|TTLL4_uc010zkm.1_Missense_Mutation_p.S158C	p.S955C	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	15	3234	+		Renal(207;0.0915)	955					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.2864C>G	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996542	0.54147	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.04758	3.7;3.94;3.56;3.94	5.09	5.09	0.68999	.	4.666280	0.00166	N	0.000004	T	0.12008	0.0292	M	0.68317	2.08	0.80722	D	1	B;B;P;B	0.40970	0.003;0.303;0.734;0.242	B;B;B;B	0.35182	0.008;0.087;0.197;0.119	T	0.49123	-0.8972	10	0.66056	D	0.02	.	17.6729	0.88223	0.0:1.0:0.0:0.0	.	158;790;891;955	B4DJF5;E9PH58;E7EX20;Q14679	.;.;.;TTLL4_HUMAN	C	790;955;891;955	ENSP00000393332:S790C;ENSP00000375951:S955C;ENSP00000396555:S891C;ENSP00000258398:S955C	ENSP00000258398:S955C	S	+	2	0	TTLL4	219323104	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.083000	0.57643	2.639000	0.89480	0.650000	0.86243	TCC		PASS	0.537	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		29	274	29	274	---	---	---	---
ANKZF1	55139	broad.mit.edu	37	2	220098130	220098130	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:220098130G>T	ENST00000323348.5	+	7	968	c.794G>T	c.(793-795)cGc>cTc	p.R265L	ANKZF1_ENST00000410034.3_Missense_Mutation_p.R265L|ANKZF1_ENST00000409849.1_Missense_Mutation_p.R55L	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	265						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.R265L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACCTGAGGCGCTACAATGAA	0.512																																						uc002vkg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(793-795)CGC>CTC		ankyrin repeat and zinc finger domain containing							31.0	33.0	32.0					2																	220098130		1959	4142	6101	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220098130G>T	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.794G>T	2.37:g.220098130G>T	ENSP00000321617:p.Arg265Leu					ANKZF1_uc010zkv.1_Missense_Mutation_p.R209L|ANKZF1_uc010zkw.1_Missense_Mutation_p.R55L|ANKZF1_uc002vkh.2_Missense_Mutation_p.R55L|ANKZF1_uc002vki.2_Missense_Mutation_p.R265L|ANKZF1_uc002vkj.1_Missense_Mutation_p.R253L	p.R265L	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	968	+		Renal(207;0.0474)	265					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.794G>T	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301111	0.81136	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.65364	-0.15;0.49;-0.15	4.87	3.99	0.46301	.	0.052127	0.85682	D	0.000000	D	0.82531	0.5057	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;P	0.91635	0.917;0.999;0.829	D	0.86274	0.1663	10	0.66056	D	0.02	-6.0856	13.008	0.58717	0.0773:0.0:0.9227:0.0	.	209;55;265	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	L	265;55;265	ENSP00000321617:R265L;ENSP00000386815:R55L;ENSP00000386337:R265L	ENSP00000321617:R265L	R	+	2	0	ANKZF1	219806374	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.303000	0.78871	1.274000	0.44362	0.655000	0.94253	CGC		PASS	0.512	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		22	68	22	68	---	---	---	---
ASIC4	55515	broad.mit.edu	37	2	220400040	220400040	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:220400040A>G	ENST00000347842.3	+	5	1561	c.1547A>G	c.(1546-1548)tAc>tGc	p.Y516C	ASIC4_ENST00000358078.4_Missense_Mutation_p.Y535C	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	516					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.Y535C(1)									AACGAGACCTACATACGgtat	0.567																																						uc002vma.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1546-1548)TAC>TGC		amiloride-sensitive cation channel 4 isoform 2							43.0	29.0	34.0					2																	220400040		2202	4300	6502	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220400040A>G	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1547A>G	2.37:g.220400040A>G	ENSP00000326627:p.Tyr516Cys					ACCN4_uc002vlz.2_Missense_Mutation_p.Y535C|ACCN4_uc002vmb.2_Missense_Mutation_p.Y189C	p.Y516C	NM_182847	NP_878267	Q96FT7	ACCN4_HUMAN		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)	5	1561	+		Renal(207;0.0183)	516			Extracellular (Potential).		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.1547A>G	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188694	0.78789	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.68181	-0.31;-0.31	4.67	4.67	0.58626	.	0.229268	0.45606	D	0.000351	D	0.85204	0.5643	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88691	0.3209	10	0.62326	D	0.03	-23.1942	14.5996	0.68432	1.0:0.0:0.0:0.0	.	516;535	Q96FT7;Q96FT7-4	ACCN4_HUMAN;.	C	516;535	ENSP00000326627:Y516C;ENSP00000350786:Y535C	ENSP00000326627:Y516C	Y	+	2	0	ACCN4	220108284	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	8.818000	0.91991	2.103000	0.63969	0.528000	0.53228	TAC		PASS	0.567	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		11	61	11	61	---	---	---	---
STK11IP	114790	broad.mit.edu	37	2	220466708	220466708	+	Splice_Site	SNP	A	A	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:220466708A>T	ENST00000456909.1	+	5	432		c.e5-1		STK11IP_ENST00000459692.1_Splice_Site|STK11IP_ENST00000295641.10_Splice_Site			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein						protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)	p.?(3)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTGTCCCAGCTCCGAGGT	0.582																																						uc002vml.2																			3	Unknown(3)		lung(3)	ovary(1)	1						c.e5-2		LKB1 interacting protein							43.0	42.0	42.0					2																	220466708		1972	4150	6122	SO:0001630	splice_region_variant	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220466708A>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.343-1A>T	2.37:g.220466708A>T						STK11IP_uc010zlj.1_3'UTR|STK11IP_uc010zlk.1_Splice_Site_p.L115_splice|STK11IP_uc010zll.1_Splice_Site_p.L115_splice|STK11IP_uc002vmm.1_Splice_Site_p.L115_splice	p.L126_splice	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	419	+		Renal(207;0.0183)						Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Splice_Site	SNP	ENST00000456909.1	37	c.376_splice		.	.	.	.	.	.	.	.	.	.	A	17.66	3.443561	0.63067	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4309	0.61055	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STK11IP	220174952	1.000000	0.71417	0.970000	0.41538	0.716000	0.41182	7.933000	0.87642	1.995000	0.58328	0.533000	0.62120	.		PASS	0.582	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902	Intron	7	49	7	49	---	---	---	---
STK11IP	114790	broad.mit.edu	37	2	220478611	220478611	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:220478611G>A	ENST00000456909.1	+	21	2765	c.2675G>A	c.(2674-2676)cGa>cAa	p.R892Q	STK11IP_ENST00000295641.10_Missense_Mutation_p.R903Q			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	903					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)	p.R903Q(1)|p.R892Q(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCTGCCCCGAGATGCCAGG	0.692																																						uc002vml.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2707-2709)CGA>CAA		LKB1 interacting protein							17.0	20.0	19.0					2																	220478611		1935	4112	6047	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220478611G>A	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2675G>A	2.37:g.220478611G>A	ENSP00000389383:p.Arg892Gln						p.R903Q	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	21	2751	+		Renal(207;0.0183)	903					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.2708G>A		.	.	.	.	.	.	.	.	.	.	g	18.05	3.538137	0.65085	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	T;T	0.11821	2.75;2.74	4.85	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.23886	0.0578	M	0.72894	2.215	0.42581	D	0.993215	D	0.58970	0.984	P	0.49192	0.602	T	0.05451	-1.0884	10	0.72032	D	0.01	-5.0103	12.5799	0.56386	0.0:0.1673:0.8327:0.0	.	903	Q8N1F8	S11IP_HUMAN	Q	892;903	ENSP00000389383:R892Q;ENSP00000295641:R903Q	ENSP00000295641:R903Q	R	+	2	0	STK11IP	220186855	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.194000	0.51005	1.253000	0.44018	-0.155000	0.13514	CGA		PASS	0.692	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		7	82	7	82	---	---	---	---
SERPINE2	5270	broad.mit.edu	37	2	224866483	224866483	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:224866483C>T	ENST00000258405.4	-	2	377	c.135G>A	c.(133-135)tcG>tcA	p.S45S	SERPINE2_ENST00000409840.3_Silent_p.S45S|SERPINE2_ENST00000409304.1_Silent_p.S45S|SERPINE2_ENST00000447280.2_Silent_p.S57S	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	45					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S57S(1)|p.S45S(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CATGAGGCCTCGACTTCACAA	0.572																																						uc002vnu.2																			2	Substitution - coding silent(2)		lung(2)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(133-135)TCG>TCA		plasminogen activator inhibitor type 1, member 2							128.0	124.0	125.0					2																	224866483		2203	4300	6503	SO:0001819	synonymous_variant	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224866483C>T	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.135G>A	2.37:g.224866483C>T						SERPINE2_uc002vnt.2_Silent_p.S45S|SERPINE2_uc010zlr.1_Silent_p.S57S|SERPINE2_uc002vnv.2_Silent_p.S45S	p.S45S	NM_006216	NP_006207	P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	2	378	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	45					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Silent	SNP	ENST00000258405.4	37	c.135G>A	CCDS2460.1																																																																																				PASS	0.572	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		41	261	41	261	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225635262	225635262	+	Splice_Site	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:225635262C>T	ENST00000258390.7	-	54	6372	c.6305G>A	c.(6304-6306)aGg>aAg	p.R2102K	DOCK10_ENST00000409592.3_Splice_Site_p.R2096K	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2102	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R609K(1)|p.R2100K(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGAAGCTTACCTGAAGATCTC	0.468																																						uc010fwz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(6304-6306)AGG>AAG		dedicator of cytokinesis 10							110.0	121.0	117.0					2																	225635262		1920	4140	6060	SO:0001630	splice_region_variant	55619						GTP binding	g.chr2:225635262C>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6305+1G>A	2.37:g.225635262C>T						DOCK10_uc002vob.2_Missense_Mutation_p.R2096K|DOCK10_uc002voa.2_Missense_Mutation_p.R758K	p.R2102K	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	54	6544	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	2102			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.6305G>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030619	0.93575	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.16457	2.34;2.34	5.09	5.09	0.68999	.	0.100453	0.64402	N	0.000003	T	0.36635	0.0974	L	0.47016	1.485	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.988	D;D;D	0.87578	0.998;0.996;0.971	T	0.02625	-1.1132	9	.	.	.	.	18.52	0.90948	0.0:1.0:0.0:0.0	.	2102;2096;764	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	K	2096;2102;609	ENSP00000386694:R2096K;ENSP00000258390:R2102K	.	R	-	2	0	DOCK10	225343506	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	7.398000	0.79919	2.378000	0.81104	0.655000	0.94253	AGG		PASS	0.468	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		Missense_Mutation	29	71	29	71	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228881719	228881719	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:228881719C>A	ENST00000392056.3	-	7	3897	c.3851G>T	c.(3850-3852)gGt>gTt	p.G1284V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G1284V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1284						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.G1284V(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTGCAGAGACCGGATGAGGA	0.507																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(3850-3852)GGT>GTT		sphingosine kinase type 1-interacting protein							90.0	87.0	88.0					2																	228881719		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881719C>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3851G>T	2.37:g.228881719C>A	ENSP00000375909:p.Gly1284Val					SPHKAP_uc002vpp.2_Missense_Mutation_p.G1284V|SPHKAP_uc010zlx.1_Missense_Mutation_p.G1284V	p.G1284V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3898	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1284					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3851G>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179532	0.38511	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.14391	2.54;2.51	5.81	4.93	0.64822	.	0.147127	0.64402	D	0.000009	T	0.34221	0.0890	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.994;0.957;0.999	T	0.07712	-1.0758	10	0.87932	D	0	.	10.057	0.42250	0.0:0.8488:0.0:0.1512	.	315;1284;1284	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1284	ENSP00000375909:G1284V;ENSP00000339886:G1284V	ENSP00000339886:G1284V	G	-	2	0	SPHKAP	228589963	0.963000	0.33076	0.179000	0.23059	0.325000	0.28411	4.266000	0.58871	1.460000	0.47911	0.655000	0.94253	GGT		PASS	0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		35	203	35	203	---	---	---	---
SP140L	93349	broad.mit.edu	37	2	231236354	231236354	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:231236354A>G	ENST00000415673.2	+	7	711	c.625A>G	c.(625-627)Aag>Gag	p.K209E	SP140L_ENST00000444636.1_Missense_Mutation_p.K209E|SP140L_ENST00000458341.1_Missense_Mutation_p.K122E|SP140L_ENST00000243810.6_Missense_Mutation_p.K209E|SP140L_ENST00000396563.4_Missense_Mutation_p.K209E	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	209						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K209E(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGGAAAACCCAAGAGGAAAAG	0.279																																						uc010fxm.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(625-627)AAG>GAG		SP140 nuclear body protein-like							45.0	41.0	43.0					2																	231236354		1799	4057	5856	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231236354A>G	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.625A>G	2.37:g.231236354A>G	ENSP00000397911:p.Lys209Glu					SP140L_uc010fxn.1_Missense_Mutation_p.K122E|SP140L_uc010fxo.1_Missense_Mutation_p.K16E	p.K209E	NM_138402	NP_612411	Q9H930	LY10L_HUMAN			7	716	+			209					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.625A>G	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	A	9.021	0.984817	0.18889	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563;ENST00000458341	D;T;D;D;T	0.83992	-1.71;-1.35;-1.71;-1.79;0.64	2.03	0.839	0.18907	.	.	.	.	.	D	0.85004	0.5598	L	0.61218	1.895	0.09310	N	1	D;B;B	0.67145	0.996;0.04;0.162	D;B;B	0.63192	0.912;0.005;0.039	T	0.71672	-0.4522	9	0.39692	T	0.17	.	3.8152	0.08812	0.8026:0.0:0.1974:0.0	.	209;122;209	Q9H930-2;Q9H930-3;Q9H930-4	.;.;.	E	209;209;209;209;122	ENSP00000395195:K209E;ENSP00000397911:K209E;ENSP00000243810:K209E;ENSP00000379811:K209E;ENSP00000395223:K122E	ENSP00000243810:K209E	K	+	1	0	SP140L	230944598	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.010000	0.12743	0.235000	0.21160	0.254000	0.18369	AAG		PASS	0.279	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		11	71	11	71	---	---	---	---
IQCA1	79781	broad.mit.edu	37	2	237405854	237405854	+	Silent	SNP	C	C	A	rs200487371		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:237405854C>A	ENST00000409907.3	-	2	562	c.288G>T	c.(286-288)acG>acT	p.T96T	IQCA1_ENST00000309507.5_Silent_p.T92T|IQCA1_ENST00000431676.2_Silent_p.T96T	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	96							ATP binding (GO:0005524)	p.T103T(1)|p.T96T(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AATGGAACTCCGTGAGTTCCA	0.473																																						uc002vvz.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(286-288)ACG>ACT		IQ motif containing with AAA domain 1							39.0	39.0	39.0					2																	237405854		1938	4135	6073	SO:0001819	synonymous_variant	79781						ATP binding	g.chr2:237405854C>A	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.288G>T	2.37:g.237405854C>A						IQCA1_uc002vwb.2_Silent_p.T103T|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Silent_p.T96T	p.T96T	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN			2	470	-			96					B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	ENST00000409907.3	37	c.288G>T	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	C	0.896	-0.723853	0.03158	.	.	ENSG00000132321	ENST00000418802	.	.	.	5.51	-11.0	0.00169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5667	0.12189	0.5246:0.2026:0.0678:0.2051	.	.	.	.	X	115	.	.	G	-	1	0	IQCA1	237070593	0.000000	0.05858	0.001000	0.08648	0.242000	0.25591	-8.002000	0.00026	-2.755000	0.00372	-1.794000	0.00625	GGA		PASS	0.473	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		19	46	19	46	---	---	---	---
FARP2	9855	broad.mit.edu	37	2	242402832	242402832	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr2:242402832A>G	ENST00000264042.3	+	16	1930	c.1760A>G	c.(1759-1761)tAt>tGt	p.Y587C	FARP2_ENST00000545004.1_Missense_Mutation_p.Y587C|FARP2_ENST00000373287.4_Missense_Mutation_p.Y587C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	587	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y587C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GATCCCATCTATGAGTTCCAC	0.592																																						uc002wbi.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1759-1761)TAT>TGT		FERM, RhoGEF and pleckstrin domain protein 2							113.0	92.0	99.0					2																	242402832		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242402832A>G	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1760A>G	2.37:g.242402832A>G	ENSP00000264042:p.Tyr587Cys					FARP2_uc010zoq.1_Missense_Mutation_p.Y587C|FARP2_uc010zor.1_Missense_Mutation_p.Y587C	p.Y587C	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	16	1877	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	587			DH.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.1760A>G	CCDS33424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.9|25.9	4.688188|4.688188	0.88639|0.88639	.|.	.|.	ENSG00000006607|ENSG00000006607	ENST00000422951|ENST00000264042;ENST00000545004;ENST00000373287	.|T;T;T	.|0.70282	.|-0.47;-0.11;-0.11	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Dbl homology (DH) domain (5);	.|0.145162	.|0.47852	.|D	.|0.000209	D|D	0.86464|0.86464	0.5939|0.5939	M|M	0.90082|0.90082	3.085|3.085	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.998;0.98;1.0	D|D	0.88339|0.88339	0.2973|0.2973	5|10	.|0.48119	.|T	.|0.1	.|.	15.144|15.144	0.72633|0.72633	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|587;587;587	.|O94887-2;F5GZ84;O94887	.|.;.;FARP2_HUMAN	V|C	28|587	.|ENSP00000264042:Y587C;ENSP00000443876:Y587C;ENSP00000362384:Y587C	.|ENSP00000264042:Y587C	M|Y	+|+	1|2	0|0	FARP2|FARP2	242051505|242051505	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	6.692000|6.692000	0.74578|0.74578	1.970000|1.970000	0.57323|0.57323	0.533000|0.533000	0.62120|0.62120	ATG|TAT		PASS	0.592	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			12	196	12	196	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1424979	1424979	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:1424979C>T	ENST00000446702.2	+	19	3031	c.2404C>T	c.(2404-2406)Cct>Tct	p.P802S	CNTN6_ENST00000350110.2_Missense_Mutation_p.P802S|CNTN6_ENST00000539053.1_Missense_Mutation_p.P730S			Q9UQ52	CNTN6_HUMAN	contactin 6	802					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P802S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GATGGTAGAACCTCAACTGGC	0.423																																						uc003boz.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2404-2406)CCT>TCT		contactin 6 precursor							184.0	190.0	188.0					3																	1424979		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1424979C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2404C>T	3.37:g.1424979C>T	ENSP00000407822:p.Pro802Ser					CNTN6_uc011asj.1_Missense_Mutation_p.P730S|CNTN6_uc003bpa.2_Missense_Mutation_p.P802S	p.P802S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	19	2671	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	802			Fibronectin type-III 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2404C>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643044	0.87859	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	D;D;D	0.81996	-1.56;-1.56;-1.56	5.82	5.82	0.92795	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000021	D	0.93890	0.8045	H	0.95004	3.61	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.94982	0.8126	10	0.87932	D	0	.	18.2696	0.90064	0.0:1.0:0.0:0.0	.	802	Q9UQ52	CNTN6_HUMAN	S	802;730;802	ENSP00000407822:P802S;ENSP00000442791:P730S;ENSP00000341882:P802S	ENSP00000341882:P802S	P	+	1	0	CNTN6	1399979	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.373000	0.73128	2.765000	0.95021	0.591000	0.81541	CCT		PASS	0.423	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		71	358	71	358	---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4808361	4808361	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:4808361G>C	ENST00000443694.2	+	42	5647	c.5647G>C	c.(5647-5649)Gag>Cag	p.E1883Q	ITPR1_ENST00000354582.6_Missense_Mutation_p.E1883Q|ITPR1_ENST00000423119.2_Missense_Mutation_p.E1850Q|ITPR1_ENST00000302640.8_Missense_Mutation_p.E1883Q|ITPR1_ENST00000357086.4_Missense_Mutation_p.E1850Q|ITPR1_ENST00000456211.2_Missense_Mutation_p.E1835Q|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1898					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.E1850Q(2)|p.E1835Q(2)|p.E1883Q(2)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GAAAGACGATGAGGTAGACAG	0.438																																						uc003bqa.2																			6	Substitution - Missense(6)		lung(6)	lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(5548-5550)GAG>CAG		inositol 1,4,5-triphosphate receptor, type 1							80.0	76.0	77.0					3																	4808361		1911	4120	6031	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4808361G>C	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5647G>C	3.37:g.4808361G>C	ENSP00000401671:p.Glu1883Gln					ITPR1_uc010hca.1_Missense_Mutation_p.E1835Q|ITPR1_uc011asu.1_Intron|ITPR1_uc003bqc.2_Missense_Mutation_p.E820Q	p.E1850Q	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	42	5896	+			1898			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.5548G>C	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928848	0.52759	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.76	5.76	0.90799	.	0.271361	0.41938	D	0.000793	D	0.89719	0.6796	L	0.52573	1.65	0.80722	D	1	B;B	0.28512	0.145;0.214	B;B	0.34652	0.127;0.187	D	0.85651	0.1282	10	0.24483	T	0.36	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1898;1850	Q14643;G5E9P1	ITPR1_HUMAN;.	Q	1898;1883;1883;1850;344;1850;1835;1883	ENSP00000306253:E1883Q;ENSP00000346595:E1883Q;ENSP00000405934:E1850Q;ENSP00000349597:E1850Q;ENSP00000397885:E1835Q;ENSP00000401671:E1883Q	ENSP00000306253:E1883Q	E	+	1	0	ITPR1	4783361	1.000000	0.71417	0.458000	0.27068	0.377000	0.30045	9.740000	0.98839	2.713000	0.92767	0.655000	0.94253	GAG		PASS	0.438	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		9	67	9	67	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19554594	19554594	+	Missense_Mutation	SNP	C	C	G	rs138619397	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:19554594C>G	ENST00000328405.2	+	13	2478	c.2212C>G	c.(2212-2214)Cgc>Ggc	p.R738G		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	738					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R738G(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATCTTCTTCGCGCAACAAGAA	0.552																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			1	Substitution - Missense(1)	p.R738L(1)	lung(1)	lung(4)|ovary(1)	5						c.(2212-2214)CGC>GGC		potassium voltage-gated channel, subfamily H,							75.0	64.0	68.0					3																	19554594		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19554594C>G	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2212C>G	3.37:g.19554594C>G	ENSP00000328813:p.Arg738Gly					KCNH8_uc010hex.1_Missense_Mutation_p.R199G	p.R738G	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			13	2407	+			738			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2212C>G	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	3.398	-0.122783	0.06795	.	.	ENSG00000183960	ENST00000328405	D	0.98550	-4.99	5.68	4.74	0.60224	.	0.532611	0.13645	U	0.372710	D	0.96093	0.8727	L	0.44542	1.39	0.18873	N	0.999987	B	0.02656	0.0	B	0.04013	0.001	D	0.88903	0.3354	9	.	.	.	.	14.7232	0.69323	0.1744:0.8256:0.0:0.0	.	738	Q96L42	KCNH8_HUMAN	G	738	ENSP00000328813:R738G	.	R	+	1	0	KCNH8	19529598	0.314000	0.24563	0.011000	0.14972	0.530000	0.34684	2.577000	0.46042	2.674000	0.91012	0.585000	0.79938	CGC		PASS	0.552	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		21	64	21	64	---	---	---	---
KAT2B	8850	broad.mit.edu	37	3	20189783	20189783	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:20189783C>T	ENST00000263754.4	+	16	2660	c.2205C>T	c.(2203-2205)atC>atT	p.I735I		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	735					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.I735I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCAAGAGCATCCTCCAGCAGG	0.408																																						uc003cbq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2203-2205)ATC>ATT		K(lysine) acetyltransferase 2B							67.0	70.0	69.0					3																	20189783		2203	4300	6503	SO:0001819	synonymous_variant	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20189783C>T	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.2205C>T	3.37:g.20189783C>T							p.I735I	NM_003884	NP_003875	Q92831	KAT2B_HUMAN			16	2651	+			735					Q6NSK1	Silent	SNP	ENST00000263754.4	37	c.2205C>T	CCDS2634.1																																																																																				PASS	0.408	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		25	82	25	82	---	---	---	---
RARB	5915	broad.mit.edu	37	3	25636025	25636025	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:25636025G>C	ENST00000404969.1	+	7	1027	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	RARB_ENST00000437042.2_Missense_Mutation_p.E224Q|RARB_ENST00000458646.1_Missense_Mutation_p.E224Q|RARB_ENST00000330688.4_Missense_Mutation_p.E336Q|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	343	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E336Q(1)|p.E343Q(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCAGGACCTTGAGGAACCGAC	0.398																																						uc011awl.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|pancreas(1)	3						c.(1027-1029)GAG>CAG		retinoic acid receptor, beta isoform 2	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						80.0	83.0	82.0					3																	25636025		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25636025G>C	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1027G>C	3.37:g.25636025G>C	ENSP00000385865:p.Glu343Gln					RARB_uc003cdi.1_Missense_Mutation_p.E224Q|RARB_uc003cdh.2_Missense_Mutation_p.E336Q	p.E343Q	NM_016152	NP_057236	P10826	RARB_HUMAN			7	1093	+			343			Ligand-binding.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.1027G>C		.	.	.	.	.	.	.	.	.	.	G	22.5	4.304466	0.81136	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.17	5.17	0.71159	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.104740	0.64402	D	0.000006	T	0.40522	0.1120	L	0.34521	1.04	0.58432	D	0.999999	P;B	0.36837	0.571;0.318	P;P	0.45138	0.471;0.471	T	0.26677	-1.0096	10	0.51188	T	0.08	.	19.0249	0.92929	0.0:0.0:1.0:0.0	.	343;336	P10826;F1D8S6	RARB_HUMAN;.	Q	343;343;343;224;336;224	ENSP00000373282:E343Q;ENSP00000385865:E343Q;ENSP00000398840:E224Q;ENSP00000332296:E336Q;ENSP00000391391:E224Q	ENSP00000332296:E336Q	E	+	1	0	RARB	25611029	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.788000	0.99064	2.567000	0.86603	0.591000	0.81541	GAG		PASS	0.398	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		7	110	7	110	---	---	---	---
EOMES	8320	broad.mit.edu	37	3	27759023	27759023	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:27759023G>C	ENST00000295743.4	-	6	1802	c.1599C>G	c.(1597-1599)atC>atG	p.I533M	EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000537516.1_Missense_Mutation_p.I257M|EOMES_ENST00000449599.1_Missense_Mutation_p.I552M			O95936	EOMES_HUMAN	eomesodermin	533					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I533M(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CATAGGAACTGATGTCTAGTT	0.532																																						uc003cdx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1597-1599)ATC>ATG		eomesodermin							130.0	136.0	134.0					3																	27759023		2203	4300	6503	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27759023G>C	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1599C>G	3.37:g.27759023G>C	ENSP00000295743:p.Ile533Met					EOMES_uc003cdy.3_Missense_Mutation_p.I552M|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.I257M	p.I533M	NM_005442	NP_005433	O95936	EOMES_HUMAN			6	1599	-			533					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.1599C>G	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	G	6.375	0.437301	0.12104	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.85339	-1.97;-1.96;-1.71	4.72	1.7	0.24286	.	0.178855	0.36444	N	0.002597	T	0.53110	0.1776	N	0.00926	-1.1	0.35236	D	0.777357	B;B;B	0.28082	0.001;0.2;0.078	B;B;B	0.23275	0.004;0.045;0.008	T	0.49341	-0.8950	10	0.27082	T	0.32	.	1.9523	0.03369	0.1909:0.2918:0.3887:0.1286	.	266;552;533	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	M	533;552;257;417	ENSP00000295743:I533M;ENSP00000388620:I552M;ENSP00000442097:I257M	ENSP00000295743:I533M	I	-	3	3	EOMES	27734027	0.178000	0.23122	0.995000	0.50966	0.973000	0.67179	0.366000	0.20365	0.677000	0.31305	0.467000	0.42956	ATC		PASS	0.532	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		15	340	15	340	---	---	---	---
EOMES	8320	broad.mit.edu	37	3	27763641	27763641	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:27763641C>G	ENST00000295743.4	-	1	348	c.145G>C	c.(145-147)Gac>Cac	p.D49H	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000537516.1_Intron|EOMES_ENST00000449599.1_Missense_Mutation_p.D49H			O95936	EOMES_HUMAN	eomesodermin	49				D -> G (in Ref. 1; BAA83417). {ECO:0000305}.	brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D49H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GACGCTTTGTCTAAGTCCAAC	0.697																																						uc003cdx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(145-147)GAC>CAC		eomesodermin							4.0	4.0	4.0					3																	27763641		1906	3927	5833	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27763641C>G	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.145G>C	3.37:g.27763641C>G	ENSP00000295743:p.Asp49His					EOMES_uc003cdy.3_Missense_Mutation_p.D49H|EOMES_uc010hfn.2_Missense_Mutation_p.D49H|EOMES_uc011axc.1_Intron	p.D49H	NM_005442	NP_005433	O95936	EOMES_HUMAN			1	145	-			49	D -> G (in Ref. 1; BAA83417).				B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.145G>C	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495021	0.64186	.	.	ENSG00000163508	ENST00000295743;ENST00000449599	D;D	0.88124	-2.31;-2.34	4.31	4.31	0.51392	.	3.170750	0.01647	N	0.024366	D	0.90435	0.7005	N	0.25647	0.755	0.80722	D	1	D;D;P	0.71674	0.998;0.971;0.951	P;P;P	0.61477	0.889;0.712;0.519	T	0.79992	-0.1569	10	0.66056	D	0.02	.	15.755	0.78015	0.0:1.0:0.0:0.0	.	49;49;49	F5H3K1;G3XAI5;O95936	.;.;EOMES_HUMAN	H	49	ENSP00000295743:D49H;ENSP00000388620:D49H	ENSP00000295743:D49H	D	-	1	0	EOMES	27738645	0.995000	0.38212	1.000000	0.80357	0.958000	0.62258	1.961000	0.40432	2.257000	0.74773	0.449000	0.29647	GAC		PASS	0.697	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		2	10	2	10	---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35778738	35778738	+	Nonsense_Mutation	SNP	C	C	T	rs192238724		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:35778738C>T	ENST00000187397.4	+	16	1984	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	ARPP21_ENST00000337271.5_Nonsense_Mutation_p.R456*|ARPP21_ENST00000417925.1_Nonsense_Mutation_p.R476*|ARPP21_ENST00000444190.1_Nonsense_Mutation_p.R456*|ARPP21_ENST00000458225.1_Nonsense_Mutation_p.R476*	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	510	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.R510*(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCAGCCCCTGCGAAGCGCCAT	0.612																																						uc003cgb.2																			2	Substitution - Nonsense(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	ovary(2)|skin(1)	3						c.(1528-1530)CGA>TGA		cyclic AMP-regulated phosphoprotein, 21 kD							49.0	56.0	54.0					3																	35778738		2202	4300	6502	SO:0001587	stop_gained	10777					cytoplasm	nucleic acid binding	g.chr3:35778738C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1528C>T	3.37:g.35778738C>T	ENSP00000187397:p.Arg510*					ARPP21_uc003cga.2_Nonsense_Mutation_p.R456*|ARPP21_uc011axy.1_Nonsense_Mutation_p.R476*|ARPP21_uc003cgf.2_Nonsense_Mutation_p.R311*|ARPP21_uc003cgg.2_5'UTR	p.R510*	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			16	1792	+			510			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Nonsense_Mutation	SNP	ENST00000187397.4	37	c.1528C>T	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	37	6.267266	0.97426	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	.	.	.	5.91	4.97	0.65823	.	0.108809	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7414	11.6463	0.51263	0.3802:0.6198:0.0:0.0	.	.	.	.	X	476;456;456;510;476	.	ENSP00000187397:R510X	R	+	1	2	ARPP21	35753742	1.000000	0.71417	0.996000	0.52242	0.607000	0.37147	2.754000	0.47532	2.808000	0.96608	0.655000	0.94253	CGA		PASS	0.612	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		9	120	9	120	---	---	---	---
ANO10	55129	broad.mit.edu	37	3	43618347	43618347	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:43618347C>G	ENST00000292246.3	-	6	1169	c.999G>C	c.(997-999)atG>atC	p.M333I	ANO10_ENST00000414522.2_Missense_Mutation_p.M333I|ANO10_ENST00000350459.4_Intron|ANO10_ENST00000396091.3_Missense_Mutation_p.M267I|ANO10_ENST00000451430.2_Missense_Mutation_p.M222I	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	333					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)	p.M333I(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AGTAAATCATCATGACATACA	0.512																																						uc003cmv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(997-999)ATG>ATC		transmembrane protein 16K							108.0	83.0	91.0					3																	43618347		2203	4300	6503	SO:0001583	missense	55129				cell death	chloride channel complex	chloride channel activity	g.chr3:43618347C>G	AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.999G>C	3.37:g.43618347C>G	ENSP00000292246:p.Met333Ile					ANO10_uc011azs.1_Missense_Mutation_p.M333I|ANO10_uc003cmw.2_Missense_Mutation_p.M267I|ANO10_uc010hil.2_Intron|ANO10_uc011azt.1_Missense_Mutation_p.M222I	p.M333I	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN			6	1170	-			333			Helical; (Potential).		A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	ENST00000292246.3	37	c.999G>C	CCDS2710.2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008199	0.93346	.	.	ENSG00000160746	ENST00000292246;ENST00000396091;ENST00000414522;ENST00000451430	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	M	0.69523	2.12	0.80722	D	1	D;D;D;D	0.76494	0.986;0.999;0.992;0.998	D;D;D;D	0.79108	0.939;0.992;0.966;0.983	T	0.69774	-0.5054	10	0.02654	T	1	.	19.7321	0.96186	0.0:1.0:0.0:0.0	.	222;333;267;333	Q9NW15-4;C9JHS1;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	I	333;267;333;222	ENSP00000292246:M333I;ENSP00000379398:M267I;ENSP00000396990:M333I;ENSP00000394119:M222I	ENSP00000292246:M333I	M	-	3	0	ANO10	43593351	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.668000	0.90789	0.655000	0.94253	ATG		PASS	0.512	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256649.2	NM_018075		7	57	7	57	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48627116	48627116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:48627116G>A	ENST00000328333.8	-	16	2193	c.2086C>T	c.(2086-2088)Cag>Tag	p.Q696*	COL7A1_ENST00000454817.1_Nonsense_Mutation_p.Q696*	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	696	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q696*(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGCTGGCCTGAGTCACATGG	0.607																																						uc003ctz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(2086-2088)CAG>TAG		alpha 1 type VII collagen precursor							89.0	88.0	89.0					3																	48627116		2203	4300	6503	SO:0001587	stop_gained	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48627116G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2086C>T	3.37:g.48627116G>A	ENSP00000332371:p.Gln696*						p.Q696*	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	16	2087	-			696			Nonhelical region (NC1).|Fibronectin type-III 6.		Q14054|Q16507	Nonsense_Mutation	SNP	ENST00000328333.8	37	c.2086C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	37	6.217468	0.97385	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	.	.	.	5.26	5.26	0.73747	.	0.539129	0.15626	N	0.252640	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	14.7547	0.69554	0.0:0.0:1.0:0.0	.	.	.	.	X	696	.	ENSP00000332371:Q696X	Q	-	1	0	COL7A1	48602120	0.839000	0.29477	0.750000	0.31169	0.461000	0.32589	1.624000	0.37018	2.648000	0.89879	0.561000	0.74099	CAG		PASS	0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		70	151	70	151	---	---	---	---
DALRD3	55152	broad.mit.edu	37	3	49054726	49054726	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:49054726C>T	ENST00000341949.4	-	5	868	c.862G>A	c.(862-864)Gag>Aag	p.E288K	DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000395462.4_Missense_Mutation_p.E121K|DALRD3_ENST00000440857.1_Missense_Mutation_p.E121K|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000441576.2_Missense_Mutation_p.E288K|DALRD3_ENST00000313778.5_Missense_Mutation_p.E121K	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	288					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)	p.E288K(1)|p.E121K(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGCTGGAACTCCTCCTCACAG	0.512																																						uc003cvk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(862-864)GAG>AAG		DALR anticodon binding domain containing 3							116.0	118.0	118.0					3																	49054726		2203	4300	6503	SO:0001583	missense	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49054726C>T	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.862G>A	3.37:g.49054726C>T	ENSP00000344989:p.Glu288Lys					DALRD3_uc003cvl.1_Missense_Mutation_p.E288K|DALRD3_uc003cvm.1_Missense_Mutation_p.E121K|DALRD3_uc010hko.1_Missense_Mutation_p.E121K|DALRD3_uc011bca.1_Missense_Mutation_p.E288K	p.E288K	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	882	-			288					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	ENST00000341949.4	37	c.862G>A	CCDS33754.1	.	.	.	.	.	.	.	.	.	.	c	27.9	4.877359	0.91664	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778;ENST00000420952	T;T;T;T;T;T	0.54675	0.66;0.7;0.68;0.63;0.68;0.56	5.1	5.1	0.69264	.	0.154127	0.56097	D	0.000027	T	0.65312	0.2679	L	0.59436	1.845	0.51482	D	0.999929	P;D;P;P	0.56968	0.925;0.978;0.925;0.835	P;P;P;B	0.58780	0.621;0.845;0.621;0.204	T	0.64689	-0.6348	10	0.45353	T	0.12	-16.648	16.9195	0.86160	0.0:1.0:0.0:0.0	.	288;121;288;288	B7Z727;C9JJG6;Q5D0E6-2;Q5D0E6	.;.;.;DALD3_HUMAN	K	288;288;121;121;121;253	ENSP00000410623:E288K;ENSP00000344989:E288K;ENSP00000378846:E121K;ENSP00000403770:E121K;ENSP00000323265:E121K;ENSP00000397385:E253K	ENSP00000323265:E121K	E	-	1	0	DALRD3	49029730	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	5.792000	0.69052	2.640000	0.89533	0.645000	0.84053	GAG		PASS	0.512	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114		20	333	20	333	---	---	---	---
CAMKV	79012	broad.mit.edu	37	3	49899591	49899591	+	Silent	SNP	G	G	A	rs111501823	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:49899591G>A	ENST00000477224.1	-	3	592	c.114C>T	c.(112-114)atC>atT	p.I38I	CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000463537.1_Silent_p.I38I|CAMKV_ENST00000488336.1_Silent_p.I38I|CAMKV_ENST00000296471.7_Silent_p.I38I|CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000466940.1_Silent_p.I38I|RN7SL217P_ENST00000584520.1_RNA			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	38	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.I38I(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGGCCCGGAAGATTTCACAAA	0.592																																						uc003cxt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7						c.(112-114)ATC>ATT		CaM kinase-like vesicle-associated							78.0	80.0	79.0					3																	49899591		2203	4300	6503	SO:0001819	synonymous_variant	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49899591G>A	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.114C>T	3.37:g.49899591G>A						CAMKV_uc011bcy.1_5'UTR|CAMKV_uc003cxv.1_Silent_p.I38I|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Silent_p.I38I|CAMKV_uc011bcz.1_Missense_Mutation_p.S15F|CAMKV_uc011bda.1_Silent_p.I38I|CAMKV_uc011bdb.1_RNA	p.I38I	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	3	307	-			38			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Silent	SNP	ENST00000477224.1	37	c.114C>T	CCDS33762.1																																																																																				PASS	0.592	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		24	70	24	70	---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51457744	51457744	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:51457744C>T	ENST00000335891.5	-	7	1342	c.1333G>A	c.(1333-1335)Gct>Act	p.A445T				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	894	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.A898T(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ACAGGAGAAGCAGCAGCAGTG	0.577																																						uc003dbe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2680-2682)GCT>ACT		HIV-1 Vpr binding protein							114.0	122.0	119.0					3																	51457744		2166	4257	6423	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51457744C>T	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1333G>A	3.37:g.51457744C>T	ENSP00000338857:p.Ala445Thr					VPRBP_uc003dbf.1_Missense_Mutation_p.A170T	p.A894T	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	14	2848	-			894					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.2680G>A		.	.	.	.	.	.	.	.	.	.	C	9.835	1.189542	0.21954	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.42513	0.97;0.97	5.92	5.92	0.95590	.	0.105878	0.64402	D	0.000004	T	0.24928	0.0605	N	0.08118	0	0.43846	D	0.996437	B	0.29646	0.253	B	0.30572	0.117	T	0.13176	-1.0519	10	0.17369	T	0.5	-15.2643	15.0831	0.72130	0.1417:0.8583:0.0:0.0	.	894	Q9Y4B6	VPRBP_HUMAN	T	465;445	ENSP00000393183:A465T;ENSP00000338857:A445T	ENSP00000338857:A445T	A	-	1	0	VPRBP	51432784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.568000	0.45965	2.804000	0.96469	0.655000	0.94253	GCT		PASS	0.577	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		60	121	60	121	---	---	---	---
ACY1	95	broad.mit.edu	37	3	52021212	52021212	+	Splice_Site	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:52021212G>C	ENST00000404366.2	+	10	853	c.707G>C	c.(706-708)aGg>aCg	p.R236T	ACY1_ENST00000494103.1_Splice_Site_p.R164T|ACY1_ENST00000476854.1_Intron|ACY1_ENST00000476351.1_Splice_Site_p.R201T|ACY1_ENST00000458031.2_Splice_Site_p.R326T|ABHD14A-ACY1_ENST00000463937.1_Splice_Site_p.R337T	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	236					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.R236T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	GAATGGCAGAGGTGAGGCAGC	0.557																																						uc003dcp.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(706-708)AGG>ACG		aminoacylase 1	L-Aspartic Acid(DB00128)						86.0	93.0	90.0					3																	52021212		2203	4300	6503	SO:0001630	splice_region_variant	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52021212G>C	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.707+1G>C	3.37:g.52021212G>C						ACY1_uc011bea.1_Missense_Mutation_p.R326T|ACY1_uc011beb.1_Missense_Mutation_p.R236T|ACY1_uc003dcq.2_Missense_Mutation_p.R236T	p.R236T	NM_000666	NP_000657	Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	10	768	+			236					C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	ENST00000404366.2	37	c.707G>C	CCDS2844.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150057	0.78001	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476351;ENST00000494103;ENST00000404366	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	4.85	4.85	0.62838	Peptidase M20, dimerisation (2);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	M	0.68317	2.08	0.80722	D	1	B;P;B	0.37688	0.132;0.605;0.452	B;P;P	0.51297	0.152;0.665;0.497	T	0.72727	-0.4206	10	0.66056	D	0.02	-6.252	14.875	0.70488	0.0:0.0:1.0:0.0	.	236;326;236	B4DPC3;B4DNW0;Q03154	.;.;ACY1_HUMAN	T	326;337;236;201;164;236	ENSP00000390557:R326T;ENSP00000420487:R337T;ENSP00000417056:R201T;ENSP00000417618:R164T;ENSP00000384296:R236T	ENSP00000384296:R236T	R	+	2	0	ACY1;RP11-155D18.11	51996252	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.163000	0.77524	2.244000	0.73946	0.561000	0.74099	AGG		PASS	0.557	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666	Missense_Mutation	136	206	136	206	---	---	---	---
DNAH12	201625	broad.mit.edu	37	3	57494205	57494205	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:57494205G>C	ENST00000351747.2	-	7	785	c.605C>G	c.(604-606)tCt>tGt	p.S202C	DNAH12_ENST00000389536.4_Missense_Mutation_p.S202C|DNAH12_ENST00000311202.6_Missense_Mutation_p.S202C	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	202	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S202C(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GTGCAAATTAGAGAATATTTG	0.343																																						uc003dit.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(604-606)TCT>TGT		dynein heavy chain domain 2 isoform 1							55.0	57.0	56.0					3																	57494205		2203	4298	6501	SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57494205G>C	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.605C>G	3.37:g.57494205G>C	ENSP00000295937:p.Ser202Cys					DNAH12_uc003diu.2_Missense_Mutation_p.S202C	p.S202C	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN			7	786	-			202			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37	c.605C>G		.	.	.	.	.	.	.	.	.	.	G	11.24	1.581564	0.28180	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.24350	2.02;1.86;3.49;2.96	4.94	2.82	0.32997	.	2.199570	0.02175	N	0.060068	T	0.27524	0.0676	L	0.38175	1.15	0.09310	N	1	P;B	0.39282	0.666;0.412	B;B	0.36959	0.117;0.237	T	0.47071	-0.9145	10	0.46703	T	0.11	.	14.0706	0.64856	0.0:0.0:0.5961:0.4039	.	202;202	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	C	202	ENSP00000295937:S202C;ENSP00000418137:S202C;ENSP00000374187:S202C;ENSP00000312554:S202C	ENSP00000312554:S202C	S	-	2	0	DNAH12	57469245	0.754000	0.28360	0.847000	0.33407	0.877000	0.50540	1.982000	0.40638	1.016000	0.39470	0.460000	0.39030	TCT		PASS	0.343	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		14	58	14	58	---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63938123	63938123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:63938123C>T	ENST00000295900.6	+	5	1013	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	ATXN7_ENST00000398590.3_Nonsense_Mutation_p.Q155*|ATXN7_ENST00000487717.1_Nonsense_Mutation_p.Q155*|ATXN7_ENST00000538065.1_Nonsense_Mutation_p.Q155*	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	155					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.Q155*(4)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CGACTGTAATCAGGTTGTCAA	0.373																																						uc003dlw.3																			4	Substitution - Nonsense(4)		urinary_tract(2)|lung(2)		0						c.(463-465)CAG>TAG		ataxin 7 isoform a							210.0	191.0	197.0					3																	63938123		1916	4133	6049	SO:0001587	stop_gained	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63938123C>T	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.463C>T	3.37:g.63938123C>T	ENSP00000295900:p.Gln155*					ATXN7_uc003dlv.2_Nonsense_Mutation_p.Q155*|ATXN7_uc010hnv.2_Nonsense_Mutation_p.Q155*	p.Q155*	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	5	1016	+		Prostate(884;0.0181)	155					B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Nonsense_Mutation	SNP	ENST00000295900.6	37	c.463C>T	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	C	42	9.621371	0.99221	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065	.	.	.	5.35	5.35	0.76521	.	0.060259	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.696	19.4212	0.94721	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000295900:Q155X	Q	+	1	0	ATXN7	63913163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.715000	0.84713	2.674000	0.91012	0.467000	0.42956	CAG		PASS	0.373	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333		14	164	14	164	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64527054	64527054	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:64527054C>T	ENST00000498707.1	-	35	5671	c.5329G>A	c.(5329-5331)Gag>Aag	p.E1777K	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E1749K	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1777	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1777K(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTCACGTACTCTTTGGGGTGG	0.502																																						uc003dmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(5329-5331)GAG>AAG		ADAM metallopeptidase with thrombospondin type 1							146.0	154.0	151.0					3																	64527054		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64527054C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5329G>A	3.37:g.64527054C>T	ENSP00000418735:p.Glu1777Lys					ADAMTS9_uc011bfo.1_Missense_Mutation_p.E1749K|ADAMTS9_uc011bfp.1_Missense_Mutation_p.E688K	p.E1777K	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	35	5361	-		Lung NSC(201;0.00682)	1777			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5329G>A	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396017	0.96009	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.24538	1.85;1.85	5.75	5.75	0.90469	Peptidase M12B, GON-ADAMTSs (2);	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.68557	-0.5377	10	0.72032	D	0.01	.	19.9421	0.97168	0.0:1.0:0.0:0.0	.	1749;1777	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	K	1749;1777	ENSP00000295903:E1749K;ENSP00000418735:E1777K	ENSP00000295903:E1749K	E	-	1	0	ADAMTS9	64502094	1.000000	0.71417	0.708000	0.30435	0.947000	0.59692	7.076000	0.76806	2.714000	0.92807	0.561000	0.74099	GAG		PASS	0.502	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			85	172	85	172	---	---	---	---
OR5AC2	81050	broad.mit.edu	37	3	97806185	97806185	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:97806185C>T	ENST00000358642.2	+	1	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	57					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L57F(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CGACCCCCATCTTCATATGCC	0.438																																						uc011bgs.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(169-171)CTT>TTT		olfactory receptor, family 5, subfamily AC,							301.0	283.0	289.0					3																	97806185		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806185C>T	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.169C>T	3.37:g.97806185C>T	ENSP00000351466:p.Leu57Phe						p.L57F	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	169	+			57			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000358642.2	37	c.169C>T	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.570165	0.45798	.	.	ENSG00000196578	ENST00000358642	T	0.02890	4.12	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33217	U	0.005151	T	0.18841	0.0452	M	0.92219	3.285	0.28817	N	0.897929	D	0.89917	1.0	D	0.91635	0.999	T	0.14090	-1.0485	10	0.72032	D	0.01	-37.8221	9.9502	0.41634	0.0:0.9072:0.0:0.0928	.	57	Q9NZP5	O5AC2_HUMAN	F	57	ENSP00000351466:L57F	ENSP00000351466:L57F	L	+	1	0	OR5AC2	99288875	0.888000	0.30383	0.170000	0.22879	0.132000	0.20833	1.823000	0.39062	2.470000	0.83445	0.596000	0.82720	CTT		PASS	0.438	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			84	646	84	646	---	---	---	---
ALCAM	214	broad.mit.edu	37	3	105264155	105264155	+	Silent	SNP	G	G	A	rs139344282	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:105264155G>A	ENST00000306107.5	+	9	1580	c.1080G>A	c.(1078-1080)agG>agA	p.R360R	ALCAM_ENST00000486979.2_Silent_p.R309R|ALCAM_ENST00000389927.4_Silent_p.R82R|ALCAM_ENST00000472644.2_Silent_p.R360R	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	360	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.R360R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CTGCTAGCAGGAATGCAACTG	0.388																																						uc003dvx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1078-1080)AGG>AGA		activated leukocyte cell adhesion molecule							181.0	165.0	171.0					3																	105264155		2203	4300	6503	SO:0001819	synonymous_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105264155G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1080G>A	3.37:g.105264155G>A						ALCAM_uc003dvw.1_Silent_p.R360R|ALCAM_uc003dvy.2_Silent_p.R360R|ALCAM_uc010hpp.2_Silent_p.R82R|ALCAM_uc003dvz.2_5'UTR	p.R360R	NM_001627	NP_001618	Q13740	CD166_HUMAN			9	1620	+			360			Extracellular (Potential).|Ig-like C2-type 2.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Silent	SNP	ENST00000306107.5	37	c.1080G>A	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	8.697	0.908889	0.17833	.	.	ENSG00000170017	ENST00000465413	.	.	.	5.28	2.54	0.30619	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46176	-0.9210	4	.	.	.	-14.5925	7.6042	0.28093	0.4606:0.0:0.5394:0.0	.	.	.	.	K	121	.	.	E	+	1	0	ALCAM	106746845	1.000000	0.71417	0.998000	0.56505	0.827000	0.46813	2.035000	0.41155	0.327000	0.23409	-0.214000	0.12660	GAA		PASS	0.388	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		14	219	14	219	---	---	---	---
GAP43	2596	broad.mit.edu	37	3	115395195	115395195	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:115395195G>A	ENST00000305124.6	+	2	732	c.366G>A	c.(364-366)caG>caA	p.Q122Q	GAP43_ENST00000393780.3_Silent_p.Q158Q	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	122					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.Q122Q(1)|p.Q158Q(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CCACAGAGCAGGCAGCCCCCC	0.607																																						uc003ebq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(364-366)CAG>CAA		growth associated protein 43 isoform 2							27.0	32.0	30.0					3																	115395195		2203	4300	6503	SO:0001819	synonymous_variant	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395195G>A		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.366G>A	3.37:g.115395195G>A						GAP43_uc003ebr.2_Silent_p.Q158Q	p.Q122Q	NM_002045	NP_002036	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	2	752	+			122					A8K0Y4	Silent	SNP	ENST00000305124.6	37	c.366G>A	CCDS33830.1																																																																																				PASS	0.607	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		41	42	41	42	---	---	---	---
C3orf30	152405	broad.mit.edu	37	3	118865717	118865717	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:118865717C>A	ENST00000295622.1	+	1	721	c.681C>A	c.(679-681)gaC>gaA	p.D227E	RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	227								p.D227E(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TGCAGATTGACAGTGGGTCAT	0.493																																						uc003ecb.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(679-681)GAC>GAA		hypothetical protein LOC152405							95.0	97.0	96.0					3																	118865717		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865717C>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.681C>A	3.37:g.118865717C>A	ENSP00000295622:p.Asp227Glu					IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.D227E	p.D227E	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	721	+			227					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.681C>A	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.34|10.34	1.322120|1.322120	0.23994|0.23994	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000460150;ENST00000473121	T|.	0.26660|.	1.72|.	2.58|2.58	-0.365|-0.365	0.12549|0.12549	.|.	1.686210|.	0.03299|.	N|.	0.188719|.	T|T	0.33789|0.33789	0.0875|0.0875	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	D;D|.	0.71674|.	0.998;0.99|.	D;D|.	0.72625|.	0.937;0.978|.	T|T	0.29941|0.29941	-0.9995|-0.9995	10|5	0.11485|.	T|.	0.65|.	-1.9804|-1.9804	3.4737|3.4737	0.07577|0.07577	0.0:0.4077:0.2011:0.3912|0.0:0.4077:0.2011:0.3912	.|.	227;227|.	E9PFE5;Q96M34|.	.;CC030_HUMAN|.	E|K	227|191;20	ENSP00000295622:D227E|.	ENSP00000295622:D227E|.	D|Q	+|+	3|1	2|0	C3orf30|C3orf30	120348407|120348407	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-2.342000|-2.342000	0.01099|0.01099	-0.121000|-0.121000	0.11787|0.11787	-0.474000|-0.474000	0.04947|0.04947	GAC|CAG		PASS	0.493	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		43	386	43	386	---	---	---	---
ARHGAP31	57514	broad.mit.edu	37	3	119121087	119121087	+	Silent	SNP	C	C	T	rs561520922		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:119121087C>T	ENST00000264245.4	+	10	2020	c.1488C>T	c.(1486-1488)ctC>ctT	p.L496L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	496					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.L496L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CTGTGCCGCTCCGCGTGTCCG	0.587																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1486-1488)CTC>CTT		Cdc42 GTPase-activating protein							59.0	65.0	63.0					3																	119121087		2085	4217	6302	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119121087C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1488C>T	3.37:g.119121087C>T							p.L496L	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			10	2020	+			496					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.1488C>T	CCDS43135.1																																																																																				PASS	0.587	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			40	412	40	412	---	---	---	---
ADPRH	141	broad.mit.edu	37	3	119301094	119301094	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:119301094C>T	ENST00000478399.1	+	2	1483	c.78C>T	c.(76-78)ttC>ttT	p.F26F	ADPRH_ENST00000357003.3_Silent_p.F26F|RP11-190C22.9_ENST00000609385.1_RNA|ADPRH_ENST00000465513.1_Silent_p.F26F|ADPRH_ENST00000478927.1_Silent_p.F26F|ADPRH_ENST00000471850.1_Intron			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	26					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)	p.F26F(1)		breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AGTGGGAGTTCCTCCAGGATG	0.572																																					GBM(133;579 1804 5989 9967 40052)	uc003ecs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(76-78)TTC>TTT		ADP-ribosylarginine hydrolase							89.0	88.0	88.0					3																	119301094		2203	4300	6503	SO:0001819	synonymous_variant	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119301094C>T	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.78C>T	3.37:g.119301094C>T						ADPRH_uc010hqv.2_Silent_p.F26F|ADPRH_uc011bjb.1_Intron|ADPRH_uc003ect.2_Silent_p.F26F	p.F26F	NM_001125	NP_001116	P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	3	376	+		Lung NSC(201;0.0977)	26					B2R8H1|D3DN83	Silent	SNP	ENST00000478399.1	37	c.78C>T	CCDS2990.1																																																																																				PASS	0.572	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		11	186	11	186	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121206895	121206895	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:121206895G>A	ENST00000264233.5	-	16	5011	c.4883C>T	c.(4882-4884)tCa>tTa	p.S1628L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1628					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.S1763L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCATATGAATGAATGATTTTG	0.393								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4882-4884)TCA>TTA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							189.0	190.0	190.0					3																	121206895		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206895G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4883C>T	3.37:g.121206895G>A	ENSP00000264233:p.Ser1628Leu					POLQ_uc003eed.2_Missense_Mutation_p.S800L	p.S1628L	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5012	-			1628					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.4883C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393165	0.62066	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.52057	0.68	6.17	6.17	0.99709	.	0.268673	0.29152	N	0.012997	T	0.44808	0.1311	L	0.32530	0.975	0.21445	N	0.999685	D;B	0.53151	0.958;0.095	P;B	0.47827	0.558;0.09	T	0.46555	-0.9183	10	0.52906	T	0.07	.	13.2493	0.60041	0.0721:0.0:0.9279:0.0	.	1628;800	O75417;O75417-2	DPOLQ_HUMAN;.	L	1251;1628;1764	ENSP00000264233:S1628L	ENSP00000264233:S1628L	S	-	2	0	POLQ	122689585	0.814000	0.29104	0.988000	0.46212	0.548000	0.35241	4.378000	0.59568	2.941000	0.99782	0.655000	0.94253	TCA		PASS	0.393	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		45	683	45	683	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121413392	121413392	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:121413392T>C	ENST00000340645.5	-	13	6088	c.5963A>G	c.(5962-5964)aAg>aGg	p.K1988R	GOLGB1_ENST00000393667.3_Missense_Mutation_p.K1993R	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1988					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.K1988R(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CAAATATTCCTTTCGTATTTC	0.353																																						uc003eei.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(5962-5964)AAG>AGG		golgi autoantigen, golgin subfamily b,							166.0	176.0	173.0					3																	121413392		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121413392T>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5963A>G	3.37:g.121413392T>C	ENSP00000341848:p.Lys1988Arg					GOLGB1_uc010hrc.2_Missense_Mutation_p.K1993R|GOLGB1_uc003eej.3_Missense_Mutation_p.K1954R|GOLGB1_uc011bjm.1_Missense_Mutation_p.K1874R|GOLGB1_uc010hrd.1_Missense_Mutation_p.K1952R	p.K1988R	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	6089	-			1988			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.5963A>G	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.103219	0.37145	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15139	2.45;2.52	5.2	5.2	0.72013	.	0.000000	0.56097	D	0.000030	T	0.30166	0.0756	L	0.43757	1.38	0.36538	D	0.871104	D;D;P;P	0.71674	0.998;0.998;0.884;0.907	D;D;P;B	0.80764	0.994;0.994;0.509;0.364	T	0.14868	-1.0457	10	0.15952	T	0.53	.	13.0579	0.58990	0.0:0.0:0.0:1.0	.	1913;1993;1993;1988	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	R	1988;1993	ENSP00000341848:K1988R;ENSP00000377275:K1993R	ENSP00000341848:K1988R	K	-	2	0	GOLGB1	122896082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.450000	0.44943	2.171000	0.68590	0.528000	0.53228	AAG		PASS	0.353	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		278	360	278	360	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123452594	123452594	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:123452594C>T	ENST00000475616.1	-	7	1248	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K	MYLK_ENST00000359169.1_Missense_Mutation_p.E417K|MYLK_ENST00000360304.3_Missense_Mutation_p.E417K|MYLK_ENST00000346322.5_Missense_Mutation_p.E417K|MYLK_ENST00000360772.3_Missense_Mutation_p.E417K			Q15746	MYLK_HUMAN	myosin light chain kinase	417	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.E417K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGCTTGCTCTCAAATTTGGGG	0.512																																						uc003ego.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(1249-1251)GAG>AAG		myosin light chain kinase isoform 1							159.0	160.0	160.0					3																	123452594		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452594C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1249G>A	3.37:g.123452594C>T	ENSP00000418335:p.Glu417Lys					MYLK_uc011bjw.1_Missense_Mutation_p.E417K|MYLK_uc003egp.2_Missense_Mutation_p.E417K|MYLK_uc003egq.2_Missense_Mutation_p.E417K|MYLK_uc003egr.2_Missense_Mutation_p.E417K|MYLK_uc003egs.2_Missense_Mutation_p.E241K	p.E417K	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	10	1531	-		Lung NSC(201;0.0496)	417			Ig-like C2-type 3.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1249G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855888	0.51376	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.66280	1.05;1.05;1.05;-0.2;1.05	5.43	2.4	0.29515	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58133	0.2101	L	0.41573	1.285	0.54753	D	0.999989	D;B;D;B;D	0.61080	0.986;0.005;0.986;0.002;0.989	P;B;P;B;P	0.61658	0.827;0.004;0.827;0.003;0.892	T	0.60520	-0.7247	9	0.06494	T	0.89	.	5.3845	0.16211	0.1533:0.629:0.1342:0.0836	.	417;417;417;417;417	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	K	417	ENSP00000354004:E417K;ENSP00000353452:E417K;ENSP00000352088:E417K;ENSP00000320622:E417K;ENSP00000418335:E417K	ENSP00000320622:E417K	E	-	1	0	MYLK	124935284	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.691000	0.47010	0.832000	0.34804	0.655000	0.94253	GAG		PASS	0.512	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		76	595	76	595	---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127335943	127335943	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:127335943C>T	ENST00000265056.7	+	10	1999	c.1755C>T	c.(1753-1755)ctC>ctT	p.L585L		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	585	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.L585L(1)		ovary(3)|skin(2)|stomach(1)	6						GAGTGTGTCTCATTGATGAAT	0.617																																						uc003ejp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1753-1755)CTC>CTT		minichromosome maintenance complex component 2							77.0	83.0	81.0					3																	127335943		2203	4300	6503	SO:0001819	synonymous_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127335943C>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1755C>T	3.37:g.127335943C>T						MCM2_uc011bkm.1_Silent_p.L455L|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.L538L	p.L585L	NM_004526	NP_004517	P49736	MCM2_HUMAN			10	1812	+			585			MCM.		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.1755C>T	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	8.684	0.905801	0.17760	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.91	-3.67	0.04476	.	.	.	.	.	T	0.39627	0.1085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37526	-0.9702	4	.	.	.	-39.6123	2.8459	0.05543	0.3209:0.1586:0.389:0.1315	.	.	.	.	L	517	.	.	S	+	2	0	MCM2	128818633	0.233000	0.23772	0.964000	0.40570	0.867000	0.49689	-0.424000	0.07025	-0.325000	0.08577	-0.175000	0.13238	TCA		PASS	0.617	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			70	452	70	452	---	---	---	---
COL6A5	256076	broad.mit.edu	37	3	130174344	130174344	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:130174344C>T	ENST00000432398.2	+	37	7118	c.6624C>T	c.(6622-6624)ttC>ttT	p.F2208F	COL6A5_ENST00000265379.6_Silent_p.F2208F	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2208	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.F247F(1)|p.F2208F(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTAATGGCTTCATTGGCCAAG	0.373																																						uc010htj.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(6622-6624)TTC>TTT		collagen, type XXIX, alpha 1							44.0	43.0	44.0					3																	130174344		1807	4068	5875	SO:0001819	synonymous_variant	256076				axon guidance|cell adhesion	collagen		g.chr3:130174344C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6624C>T	3.37:g.130174344C>T						COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Silent_p.F247F	p.F2208F	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			37	7118	+			2208			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37	c.6624C>T		.	.	.	.	.	.	.	.	.	.	C	2.741	-0.262138	0.05791	.	.	ENSG00000172752	ENST00000512836	.	.	.	4.38	1.22	0.21188	.	.	.	.	.	T	0.30039	0.0752	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23332	-1.0191	4	.	.	.	.	5.9196	0.19073	0.0:0.5133:0.3794:0.1073	.	.	.	.	Y	460	.	.	H	+	1	0	COL6A5	131657034	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	0.124000	0.15728	0.534000	0.28695	0.650000	0.86243	CAT		PASS	0.373	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		8	53	8	53	---	---	---	---
ACAD11	84129	broad.mit.edu	37	3	132277834	132277834	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:132277834C>G	ENST00000264990.6	-	20	3295	c.2324G>C	c.(2323-2325)aGa>aCa	p.R775T	ACAD11_ENST00000355458.3_Missense_Mutation_p.R671T|ACAD11_ENST00000545291.1_Missense_Mutation_p.R300T	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	775					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)	p.R775T(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GGCTGTCAGTCTTTTGGCTTG	0.458																																						uc003eov.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2323-2325)AGA>ACA		putative acyl-CoA dehydrogenase							129.0	115.0	119.0					3																	132277834		2203	4299	6502	SO:0001583	missense	84129					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups	g.chr3:132277834C>G	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.2324G>C	3.37:g.132277834C>G	ENSP00000264990:p.Arg775Thr						p.R775T	NM_032169	NP_115545	Q709F0	ACD11_HUMAN			20	2704	-			775					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.2324G>C	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.724233	0.30593	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000545291	D;D;D	0.96967	-3.98;-4.07;-4.19	5.02	-4.25	0.03766	.	.	.	.	.	D	0.90577	0.7046	L	0.29908	0.895	0.09310	N	1	B	0.20368	0.044	B	0.08055	0.003	T	0.79750	-0.1672	9	0.41790	T	0.15	.	7.8091	0.29219	0.0:0.3884:0.1111:0.5004	.	775	Q709F0	ACD11_HUMAN	T	671;775;300	ENSP00000347636:R671T;ENSP00000264990:R775T;ENSP00000446263:R300T	ENSP00000264990:R775T	R	-	2	0	ACAD11	133760524	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.238000	0.08977	-0.744000	0.04778	-0.940000	0.02684	AGA		PASS	0.458	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		7	98	7	98	---	---	---	---
SLCO2A1	6578	broad.mit.edu	37	3	133666117	133666117	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:133666117G>T	ENST00000310926.4	-	9	1551	c.1278C>A	c.(1276-1278)gcC>gcA	p.A426A	SLCO2A1_ENST00000493729.1_Silent_p.A350A	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	426					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)	p.A426A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GGTAGACTTCGGCCACAGTTG	0.498																																						uc003eqa.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1276-1278)GCC>GCA		solute carrier organic anion transporter family,							85.0	81.0	82.0					3																	133666117		2203	4300	6503	SO:0001819	synonymous_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133666117G>T		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1278C>A	3.37:g.133666117G>T						SLCO2A1_uc003eqb.3_Silent_p.A350A|SLCO2A1_uc011blv.1_Silent_p.A245A	p.A426A	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			9	1552	-			426			Extracellular (Potential).		Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	c.1278C>A	CCDS3084.1																																																																																				PASS	0.498	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		77	121	77	121	---	---	---	---
PIK3CB	5291	broad.mit.edu	37	3	138375001	138375001	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:138375001C>G	ENST00000477593.1	-	22	3131	c.3058G>C	c.(3058-3060)Gat>Cat	p.D1020H	PIK3CB_ENST00000544716.1_Missense_Mutation_p.D471H|PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1020H			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1020	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.D1020H(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TACTGTATATCTTTGACTGAT	0.423																																						uc011bmq.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(3058-3060)GAT>CAT		catalytic phosphatidylinositol 3-kinase beta							99.0	92.0	95.0					3																	138375001		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138375001C>G		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.3058G>C	3.37:g.138375001C>G	ENSP00000418143:p.Asp1020His					PIK3CB_uc011bmn.1_Missense_Mutation_p.D532H|PIK3CB_uc011bmo.1_Missense_Mutation_p.D471H|PIK3CB_uc011bmp.1_Missense_Mutation_p.D607H|PIK3CB_uc003est.1_5'Flank	p.D1020H	NM_006219	NP_006210	P42338	PK3CB_HUMAN			21	3058	-			1020			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.3058G>C	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.9|24.9	4.580787|4.580787	0.86748|0.86748	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	D;D;D|T	0.82081|0.80824	-1.57;-1.57;-1.57|-1.42	5.81|5.81	5.81|5.81	0.92471|0.92471	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91637|0.91637	0.7357|0.7357	M|M	0.90145|0.90145	3.09|3.09	0.80722|0.80722	D|D	1|1	D;D;D|.	0.64830|.	0.991;0.994;0.993|.	P;P;P|.	0.60886|.	0.88;0.85;0.809|.	D|D	0.91286|0.91286	0.5055|0.5055	10|7	0.72032|0.45353	D|T	0.01|0.12	-20.4735|-20.4735	20.0763|20.0763	0.97746|0.97746	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1020;607;471|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	H|N	1020;471;1020|651	ENSP00000418143:D1020H;ENSP00000438259:D471H;ENSP00000289153:D1020H|ENSP00000417869:K651N	ENSP00000289153:D1020H|ENSP00000417869:K651N	D|K	-|-	1|3	0|2	PIK3CB|PIK3CB	139857691|139857691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	7.818000|7.818000	0.86416|0.86416	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	GAT|AAG		PASS	0.423	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			10	146	10	146	---	---	---	---
XRN1	54464	broad.mit.edu	37	3	142103448	142103448	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:142103448G>C	ENST00000264951.4	-	21	2536	c.2419C>G	c.(2419-2421)Caa>Gaa	p.Q807E	XRN1_ENST00000392981.2_Missense_Mutation_p.Q807E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	807					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Q807E(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGATTTATTTGATATTTACGA	0.313																																						uc003eus.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2419-2421)CAA>GAA		5'-3' exoribonuclease 1 isoform a							149.0	148.0	148.0					3																	142103448		2202	4297	6499	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142103448G>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2419C>G	3.37:g.142103448G>C	ENSP00000264951:p.Gln807Glu					XRN1_uc010huu.2_Missense_Mutation_p.Q273E|XRN1_uc003eut.2_Missense_Mutation_p.Q807E|XRN1_uc003euu.2_Missense_Mutation_p.Q807E|XRN1_uc003euv.1_Missense_Mutation_p.Q668E	p.Q807E	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			21	2486	-			807					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.2419C>G	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734791	0.69189	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.62788	0.0;0.0	5.3	5.3	0.74995	.	0.283745	0.37483	N	0.002067	T	0.47581	0.1453	N	0.20401	0.57	0.80722	D	1	B;B;B	0.29835	0.258;0.01;0.006	B;B;B	0.33042	0.157;0.012;0.005	T	0.45629	-0.9248	10	0.02654	T	1	-14.1594	18.9715	0.92716	0.0:0.0:1.0:0.0	.	668;807;807	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	E	807	ENSP00000264951:Q807E;ENSP00000376707:Q807E	ENSP00000264951:Q807E	Q	-	1	0	XRN1	143586138	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.486000	0.60286	2.471000	0.83476	0.650000	0.86243	CAA		PASS	0.313	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		33	435	33	435	---	---	---	---
PLS1	5357	broad.mit.edu	37	3	142389917	142389917	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:142389917G>C	ENST00000337777.3	+	4	530	c.317G>C	c.(316-318)gGa>gCa	p.G106A	PLS1_ENST00000497002.1_Missense_Mutation_p.G106A|PLS1_ENST00000457734.2_Missense_Mutation_p.G106A|RN7SKP25_ENST00000362449.1_RNA	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	106						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.G106A(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ACTGCTATTGGAGGAACTTCA	0.353																																						uc010huv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(316-318)GGA>GCA		plastin 1							186.0	178.0	180.0					3																	142389917		2203	4299	6502	SO:0001583	missense	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142389917G>C	L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.317G>C	3.37:g.142389917G>C	ENSP00000336831:p.Gly106Ala					PLS1_uc003euz.2_Missense_Mutation_p.G106A|PLS1_uc003eva.2_Missense_Mutation_p.G106A	p.G106A	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN			4	476	+			106					A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	ENST00000337777.3	37	c.317G>C	CCDS3125.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580363	0.86645	.	.	ENSG00000120756	ENST00000457734;ENST00000475296;ENST00000476044;ENST00000464320;ENST00000337777;ENST00000497002	T;T;T;T;T;T	0.74947	0.74;0.07;-0.89;0.17;0.74;0.74	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	L	0.54965	1.715	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.84697	0.0726	10	0.62326	D	0.03	-16.5864	19.9173	0.97066	0.0:0.0:1.0:0.0	.	106	Q14651	PLSI_HUMAN	A	106;106;27;106;106;106	ENSP00000387890:G106A;ENSP00000417311:G106A;ENSP00000417481:G27A;ENSP00000418880:G106A;ENSP00000336831:G106A;ENSP00000418700:G106A	ENSP00000336831:G106A	G	+	2	0	PLS1	143872607	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.751000	0.98889	2.707000	0.92482	0.563000	0.77884	GGA		PASS	0.353	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		26	596	26	596	---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	142985730	142985730	+	Silent	SNP	C	C	T	rs144511019		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:142985730C>T	ENST00000316549.6	-	16	1960	c.1752G>A	c.(1750-1752)caG>caA	p.Q584Q		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	584					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.Q584Q(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CTAGTTCATCCTGGTTTACAA	0.493																																						uc003evn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1750-1752)CAG>CAA		solute carrier family 9 (sodium/hydrogen							131.0	124.0	126.0					3																	142985730		2203	4300	6503	SO:0001819	synonymous_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142985730C>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1752G>A	3.37:g.142985730C>T							p.Q584Q	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			16	1934	-			584					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.1752G>A	CCDS33872.1																																																																																				PASS	0.493	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		26	338	26	338	---	---	---	---
PLOD2	5352	broad.mit.edu	37	3	145789130	145789130	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:145789130C>G	ENST00000360060.3	-	17	2043	c.1866G>C	c.(1864-1866)tgG>tgC	p.W622C	PLOD2_ENST00000282903.5_Missense_Mutation_p.W643C|RP11-274H2.3_ENST00000490375.1_RNA|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.W588C|PLOD2_ENST00000461497.1_Missense_Mutation_p.W303C	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	622					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.W643C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TAAAATGAAGCCATACATTCT	0.413																																						uc003evs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1864-1866)TGG>TGC		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						139.0	121.0	127.0					3																	145789130		2201	4300	6501	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145789130C>G	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1866G>C	3.37:g.145789130C>G	ENSP00000353170:p.Trp622Cys					PLOD2_uc003evq.1_Missense_Mutation_p.W303C|PLOD2_uc011bnm.1_Missense_Mutation_p.W588C|PLOD2_uc003evr.1_Missense_Mutation_p.W643C	p.W622C	NM_000935	NP_000926	O00469	PLOD2_HUMAN			17	2372	-			622					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.1866G>C	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.811843	0.70797	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	D;T;T;T	0.92805	-3.11;-0.52;-0.52;-0.49	5.16	5.16	0.70880	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.96247	0.8776	M	0.80508	2.5	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	P;D;D;D	0.85130	0.862;0.982;0.997;0.993	D	0.96753	0.9555	10	0.87932	D	0	-34.6288	18.6218	0.91323	0.0:1.0:0.0:0.0	.	588;622;643;303	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	C	303;643;622;588	ENSP00000419354:W303C;ENSP00000282903:W643C;ENSP00000353170:W622C;ENSP00000420094:W588C	ENSP00000282903:W643C	W	-	3	0	PLOD2	147271820	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.818000	0.86416	2.410000	0.81850	0.591000	0.81541	TGG		PASS	0.413	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		54	184	54	184	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155215124	155215124	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:155215124C>T	ENST00000340059.7	-	14	1842	c.1843G>A	c.(1843-1845)Gac>Aac	p.D615N	PLCH1_ENST00000494598.1_Missense_Mutation_p.D615N|PLCH1_ENST00000460012.1_Missense_Mutation_p.D597N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D597N|PLCH1_ENST00000447496.2_Missense_Mutation_p.D615N|PLCH1_ENST00000334686.6_Missense_Mutation_p.D597N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	615	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.D597N(1)|p.D615N(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCACAATGTCCTGAGCGGCC	0.428																																						uc011bok.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(1843-1845)GAC>AAC		phospholipase C eta 1 isoform a							123.0	114.0	117.0					3																	155215124		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155215124C>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1843G>A	3.37:g.155215124C>T	ENSP00000345988:p.Asp615Asn					PLCH1_uc011boj.1_Missense_Mutation_p.D615N|PLCH1_uc011bol.1_Missense_Mutation_p.D597N	p.D615N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		14	2120	-			615			PI-PLC Y-box.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.1843G>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326376	0.95708	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.76	5.76	0.90799	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.313532	0.38492	N	0.001679	T	0.56848	0.2013	L	0.33485	1.01	0.80722	D	1	D;D;B	0.54601	0.959;0.967;0.254	P;P;B	0.58391	0.749;0.838;0.169	T	0.54289	-0.8316	10	0.48119	T	0.1	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	597;615;615	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	N	615;597;615;615;597;597	ENSP00000419100:D615N;ENSP00000417502:D597N;ENSP00000402759:D615N;ENSP00000345988:D615N;ENSP00000335469:D597N;ENSP00000412977:D597N	ENSP00000335469:D597N	D	-	1	0	PLCH1	156697818	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.033000	0.76504	2.713000	0.92767	0.655000	0.94253	GAC		PASS	0.428	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		112	176	112	176	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157081156	157081156	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:157081156C>T	ENST00000362010.2	-	9	2039	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.E578K|VEPH1_ENST00000543418.1_Missense_Mutation_p.E578K|VEPH1_ENST00000392832.2_Missense_Mutation_p.E578K	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	578						plasma membrane (GO:0005886)		p.E578K(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CACTTACCTTCAATGGTACAC	0.378																																						uc003fbj.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|lung(1)	5						c.(1732-1734)GAA>AAA		ventricular zone expressed PH domain homolog 1							147.0	144.0	145.0					3																	157081156		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157081156C>T	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1732G>A	3.37:g.157081156C>T	ENSP00000354919:p.Glu578Lys					VEPH1_uc003fbk.1_Missense_Mutation_p.E578K|VEPH1_uc010hvu.1_Missense_Mutation_p.E578K	p.E578K	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		9	2049	-			578					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1732G>A	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130718	0.94473	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.15952	2.38;2.42;2.38;2.42	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.44286	0.1286	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.989	T	0.38866	-0.9641	10	0.87932	D	0	.	19.1493	0.93481	0.0:1.0:0.0:0.0	.	578;578	Q14D04-2;Q14D04	.;MELT_HUMAN	K	578	ENSP00000376578:E578K;ENSP00000354919:E578K;ENSP00000446258:E578K;ENSP00000376577:E578K	ENSP00000354919:E578K	E	-	1	0	VEPH1	158563850	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.565000	0.67365	2.506000	0.84524	0.655000	0.94253	GAA		PASS	0.378	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		18	558	18	558	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157081393	157081393	+	Missense_Mutation	SNP	C	C	T	rs558817084		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:157081393C>T	ENST00000362010.2	-	9	1802	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.E499K|VEPH1_ENST00000543418.1_Missense_Mutation_p.E499K|VEPH1_ENST00000392832.2_Missense_Mutation_p.E499K	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	499						plasma membrane (GO:0005886)		p.E499K(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGTGATCTCTCAGTGTCTGTC	0.428																																						uc003fbj.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|lung(1)	5						c.(1495-1497)GAG>AAG		ventricular zone expressed PH domain homolog 1							104.0	111.0	108.0					3																	157081393		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157081393C>T	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1495G>A	3.37:g.157081393C>T	ENSP00000354919:p.Glu499Lys					VEPH1_uc003fbk.1_Missense_Mutation_p.E499K|VEPH1_uc010hvu.1_Missense_Mutation_p.E499K	p.E499K	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		9	1812	-			499					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1495G>A	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376964	0.42105	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.12147	2.71;3.03;2.71;3.03	5.49	3.4	0.38934	.	0.916347	0.09420	N	0.804625	T	0.12860	0.0312	N	0.24115	0.695	0.25959	N	0.982653	B;B	0.20459	0.045;0.003	B;B	0.23852	0.049;0.004	T	0.36138	-0.9760	10	0.33940	T	0.23	-18.5371	15.7614	0.78082	0.0:0.648:0.352:0.0	.	499;499	Q14D04-2;Q14D04	.;MELT_HUMAN	K	499	ENSP00000376578:E499K;ENSP00000354919:E499K;ENSP00000446258:E499K;ENSP00000376577:E499K	ENSP00000354919:E499K	E	-	1	0	VEPH1	158564087	0.044000	0.20184	0.020000	0.16555	0.959000	0.62525	2.371000	0.44248	0.428000	0.26173	0.650000	0.86243	GAG		PASS	0.428	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		14	378	14	378	---	---	---	---
RSRC1	51319	broad.mit.edu	37	3	157841720	157841720	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:157841720C>T	ENST00000295930.3	+	3	422	c.260C>T	c.(259-261)tCa>tTa	p.S87L	RSRC1_ENST00000475278.2_Missense_Mutation_p.S87L|RSRC1_ENST00000464171.1_Missense_Mutation_p.S87L|RSRC1_ENST00000312179.6_Missense_Mutation_p.S87L|RSRC1_ENST00000480820.1_Missense_Mutation_p.S87L	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	87	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.S87L(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			CGAAGTCGTTCAAGGGGTCGA	0.383																																						uc003fbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(259-261)TCA>TTA		arginine/serine-rich coiled-coil 1							96.0	99.0	98.0					3																	157841720		2203	4300	6503	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157841720C>T	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.260C>T	3.37:g.157841720C>T	ENSP00000295930:p.Ser87Leu					RSRC1_uc011bou.1_Missense_Mutation_p.S87L|RSRC1_uc003fbu.1_Missense_Mutation_p.S87L|RSRC1_uc003fbv.2_Missense_Mutation_p.S87L	p.S87L	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		3	371	+			87			Arg/Ser-rich.		A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.260C>T	CCDS3181.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270412	0.80469	.	.	ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000464171;ENST00000312179;ENST00000475278;ENST00000476899	.	.	.	5.39	5.39	0.77823	.	0.319079	0.31963	N	0.006792	T	0.76807	0.4039	L	0.54323	1.7	0.58432	D	0.999999	D;D;D	0.61080	0.981;0.989;0.989	D;D;D	0.72625	0.943;0.978;0.978	T	0.78140	-0.2320	9	0.87932	D	0	.	19.5228	0.95192	0.0:1.0:0.0:0.0	.	87;87;87	B4DTW0;Q96IZ7-2;Q96IZ7	.;.;RSRC1_HUMAN	L	87	.	ENSP00000295930:S87L	S	+	2	0	RSRC1	159324414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.631000	0.67812	2.674000	0.91012	0.655000	0.94253	TCA		PASS	0.383	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		15	227	15	227	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165547523	165547523	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:165547523G>A	ENST00000264381.3	-	2	1465	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	433					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.F433F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	ACTTCTTGGTGAACTCCAAGG	0.448																																						uc003fem.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1297-1299)TTC>TTT		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						94.0	100.0	98.0					3																	165547523		2203	4300	6503	SO:0001819	synonymous_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547523G>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1299C>T	3.37:g.165547523G>A						BCHE_uc003fen.3_Intron	p.F433F	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	1459	-			433					A8K7P8	Silent	SNP	ENST00000264381.3	37	c.1299C>T	CCDS3198.1																																																																																				PASS	0.448	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			35	284	35	284	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167016129	167016129	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:167016129C>G	ENST00000392766.2	-	18	2183	c.1843G>C	c.(1843-1845)Gaa>Caa	p.E615Q	ZBBX_ENST00000392764.1_Missense_Mutation_p.E586Q|ZBBX_ENST00000392767.2_Missense_Mutation_p.E615Q|ZBBX_ENST00000307529.5_Missense_Mutation_p.E615Q|ZBBX_ENST00000455345.2_Missense_Mutation_p.E615Q	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	615						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E615Q(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGTTGCATTCTAAACGATGA	0.333																																						uc003fep.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1843-1845)GAA>CAA		zinc finger, B-box domain containing							125.0	124.0	124.0					3																	167016129		1828	4079	5907	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167016129C>G	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1843G>C	3.37:g.167016129C>G	ENSP00000376519:p.Glu615Gln					ZBBX_uc011bpc.1_Missense_Mutation_p.E615Q|ZBBX_uc003feq.2_Missense_Mutation_p.E586Q	p.E615Q	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			18	2166	-			615					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1843G>C	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407943	0.25378	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11277	2.97;2.97;3.0;3.0;2.79	4.89	3.01	0.34805	.	0.322432	0.28470	N	0.015225	T	0.17450	0.0419	L	0.50333	1.59	0.19300	N	0.999972	D;D	0.63046	0.992;0.987	P;P	0.57152	0.814;0.656	T	0.04723	-1.0931	10	0.54805	T	0.06	-3.7336	6.0911	0.19995	0.0:0.6998:0.193:0.1072	.	615;615	A8MT70-2;A8MT70	.;ZBBX_HUMAN	Q	615;615;615;615;586	ENSP00000376519:E615Q;ENSP00000376520:E615Q;ENSP00000390232:E615Q;ENSP00000305065:E615Q;ENSP00000376517:E586Q	ENSP00000305065:E615Q	E	-	1	0	ZBBX	168498823	0.049000	0.20398	0.205000	0.23548	0.098000	0.18820	0.133000	0.15912	0.525000	0.28522	0.585000	0.79938	GAA		PASS	0.333	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		22	194	22	194	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168849256	168849256	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:168849256C>T	ENST00000464456.1	-	3	1210	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	MECOM_ENST00000264674.3_Missense_Mutation_p.E68K|MECOM_ENST00000392736.3_Missense_Mutation_p.E4K|MECOM_ENST00000433243.2_Missense_Mutation_p.E4K|MECOM_ENST00000494292.1_Missense_Mutation_p.E192K|MECOM_ENST00000472280.1_Missense_Mutation_p.E4K|MECOM_ENST00000460814.1_Missense_Mutation_p.E4K|MECOM_ENST00000468789.1_Missense_Mutation_p.E4K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E4K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGATAGTCTTCGCTCTTCATG	0.458																																						uc003ffi.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(10-12)GAA>AAA		MDS1 and EVI1 complex locus isoform b							163.0	105.0	125.0					3																	168849256		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168849256C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.10G>A	3.37:g.168849256C>T	ENSP00000419770:p.Glu4Lys					MECOM_uc010hwk.1_Missense_Mutation_p.E27K|MECOM_uc003ffj.3_Missense_Mutation_p.E68K|MECOM_uc011bpi.1_Missense_Mutation_p.E4K|MECOM_uc003ffn.3_Missense_Mutation_p.E4K|MECOM_uc003ffk.2_Missense_Mutation_p.E4K|MECOM_uc003ffl.2_Missense_Mutation_p.E164K|MECOM_uc011bpj.1_Missense_Mutation_p.E192K|MECOM_uc011bpk.1_5'UTR|MECOM_uc010hwn.2_Missense_Mutation_p.E192K|MECOM_uc003ffm.1_Missense_Mutation_p.E68K	p.E4K	NM_005241	NP_005232	Q03112	EVI1_HUMAN			3	279	-			4			Interaction with MAPK9, SMAD3 and probably SUV39H1.		Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.10G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318597	0.81469	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000484519;ENST00000460890;ENST00000487503;ENST00000494597;ENST00000475754;ENST00000481315;ENST00000466623	T;T;T;T;T;T;T;T;T;T;T;T;T	0.36699	2.92;3.38;3.34;3.49;2.92;3.38;3.34;3.49;5.0;5.88;5.88;5.88;1.24	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000018	T	0.42988	0.1227	N	0.08118	0	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.994;0.994;0.986;0.971;0.986	T	0.53760	-0.8393	10	0.52906	T	0.07	-14.9094	19.5021	0.95100	0.0:1.0:0.0:0.0	.	192;4;192;68;4	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	K	68;4;4;4;192;4;4;4;4;4;4;4;4;4;4	ENSP00000264674:E68K;ENSP00000376493:E4K;ENSP00000419770:E4K;ENSP00000420048:E4K;ENSP00000417899:E192K;ENSP00000419995:E4K;ENSP00000420466:E4K;ENSP00000394302:E4K;ENSP00000417299:E4K;ENSP00000417922:E4K;ENSP00000419757:E4K;ENSP00000420072:E4K;ENSP00000418828:E4K	ENSP00000264674:E68K	E	-	1	0	MECOM	170331950	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.487000	0.81328	2.605000	0.88082	0.555000	0.69702	GAA		PASS	0.458	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		15	107	15	107	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173322732	173322732	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:173322732C>A	ENST00000457714.1	+	3	773	c.344C>A	c.(343-345)cCt>cAt	p.P115H	NLGN1_ENST00000361589.4_Missense_Mutation_p.P115H|NLGN1_ENST00000545397.1_Missense_Mutation_p.P115H|NLGN1_ENST00000401917.3_Missense_Mutation_p.P115H	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	115					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.P115H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAATTTGCTCCTGTGTGTCCC	0.478																																						uc003fio.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(343-345)CCT>CAT		neuroligin 1							172.0	166.0	168.0					3																	173322732		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173322732C>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.344C>A	3.37:g.173322732C>A	ENSP00000392500:p.Pro115His					NLGN1_uc010hww.1_Missense_Mutation_p.P115H|NLGN1_uc003fip.1_Missense_Mutation_p.P115H	p.P115H	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	767	+	Ovarian(172;0.0025)		115			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.344C>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824679	0.71143	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	D	0.82995	0.5158	M	0.85859	2.78	0.80722	D	1	P;P	0.48162	0.728;0.906	P;P	0.52424	0.698;0.556	D	0.85102	0.0958	10	0.72032	D	0.01	.	20.0185	0.97487	0.0:1.0:0.0:0.0	.	115;115	D2X2H5;Q8N2Q7-2	.;.	H	115	ENSP00000392500:P115H;ENSP00000354541:P115H;ENSP00000410374:P115H;ENSP00000441108:P115H;ENSP00000385750:P115H	ENSP00000354541:P115H	P	+	2	0	NLGN1	174805426	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.434000	0.80377	2.809000	0.96659	0.467000	0.42956	CCT		PASS	0.478	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		54	488	54	488	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		19	Substitution - Missense(16)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.E453K(5)|p.E453Q(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1)	endometrium(8)|breast(6)|lung(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1357-1359)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							137.0	130.0	132.0					3																	178928079		1829	4090	5919	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928079G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1357G>A	3.37:g.178928079G>A	ENSP00000263967:p.Glu453Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E453K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1514	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		453		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).	C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1357G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164616	0.94727	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	M	0.68317	2.08	0.80722	D	1	P	0.50528	0.936	P	0.50970	0.655	T	0.72500	-0.4274	10	0.20046	T	0.44	-22.2286	19.6973	0.96031	0.0:0.0:1.0:0.0	.	453	P42336	PK3CA_HUMAN	K	453	ENSP00000263967:E453K	ENSP00000263967:E453K	E	+	1	0	PIK3CA	180410773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.674000	0.91012	0.655000	0.94253	GAA		PASS	0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			35	334	35	334	---	---	---	---
FXR1	8087	broad.mit.edu	37	3	180671612	180671612	+	Silent	SNP	T	T	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:180671612T>A	ENST00000357559.4	+	9	1248	c.864T>A	c.(862-864)gtT>gtA	p.V288V	FXR1_ENST00000305586.7_Silent_p.V203V|FXR1_ENST00000445140.2_Silent_p.V288V|FXR1_ENST00000480918.1_Silent_p.V275V|FXR1_ENST00000491062.1_Silent_p.V239V|FXR1_ENST00000468861.1_Silent_p.V203V	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	288	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V288V(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TTATTCAGGTTCCTAGGAATC	0.323																																						uc003fkq.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(862-864)GTT>GTA		fragile X mental retardation-related protein 1							154.0	154.0	154.0					3																	180671612		2203	4300	6503	SO:0001819	synonymous_variant	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180671612T>A	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.864T>A	3.37:g.180671612T>A						FXR1_uc003fkp.2_Silent_p.V203V|FXR1_uc003fkr.2_Silent_p.V288V|FXR1_uc011bqj.1_Silent_p.V202V|FXR1_uc003fks.2_Silent_p.V202V|FXR1_uc011bqk.1_Silent_p.V239V|FXR1_uc011bql.1_Silent_p.V275V	p.V288V	NM_005087	NP_005078	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		9	886	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		288			KH 2.		A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	c.864T>A	CCDS3238.1																																																																																				PASS	0.323	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			36	327	36	327	---	---	---	---
ALG3	10195	broad.mit.edu	37	3	183960603	183960603	+	Silent	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:183960603G>C	ENST00000397676.3	-	8	1182	c.1152C>G	c.(1150-1152)ctC>ctG	p.L384L	EIF2B5_ENST00000444495.1_Intron|MIR1224_ENST00000408193.1_RNA|ALG3_ENST00000463495.1_5'Flank|ALG3_ENST00000418734.2_Silent_p.L328L|ALG3_ENST00000445626.2_Silent_p.L336L|ALG3_ENST00000455059.1_Silent_p.L344L	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	384					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)	p.L336L(1)|p.L384L(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGGTACCTGAGCAGGTGTG	0.597																																						uc003fne.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1150-1152)CTC>CTG		alpha-1,3-mannosyltransferase ALG3 isoform a							64.0	67.0	66.0					3																	183960603		2068	4211	6279	SO:0001819	synonymous_variant	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183960603G>C	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.1152C>G	3.37:g.183960603G>C						ALG3_uc011brc.1_Silent_p.L349L|ALG3_uc011brd.1_Silent_p.L328L|ALG3_uc011bre.1_Silent_p.L336L	p.L384L	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		8	1183	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		384					A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	37	c.1152C>G	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	G	9.772	1.172932	0.21704	.	.	ENSG00000214160	ENST00000446569	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	T	0.73877	0.3643	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72450	-0.4290	4	.	.	.	-9.4029	17.6691	0.88211	0.0:0.0:1.0:0.0	.	.	.	.	E	288	.	.	Q	-	1	0	ALG3	185443297	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	2.679000	0.46909	2.645000	0.89757	0.462000	0.41574	CAG		PASS	0.597	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		24	266	24	266	---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184295449	184295449	+	Missense_Mutation	SNP	G	G	A	rs531602325		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:184295449G>A	ENST00000330394.2	+	7	1935	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	495	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.E495K(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATTGCAGAGCGAGGGCATCGC	0.657													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16443	0.0		0.0	False		,,,				2504	0.0					uc003foz.2																			1	Substitution - Missense(1)		lung(1)	lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(1483-1485)GAG>AAG		ephrin receptor EphB3 precursor							58.0	63.0	62.0					3																	184295449		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184295449G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1483G>A	3.37:g.184295449G>A	ENSP00000332118:p.Glu495Lys						p.E495K	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		7	1920	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		495			Fibronectin type-III 2.|Extracellular (Potential).		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1483G>A	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744913	0.49151	.	.	ENSG00000182580	ENST00000330394	T	0.54866	0.55	5.46	3.6	0.41247	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.562608	0.19181	N	0.120690	T	0.47078	0.1426	M	0.62088	1.915	0.43782	D	0.996319	B	0.17268	0.021	B	0.12837	0.008	T	0.35325	-0.9793	10	0.39692	T	0.17	.	8.27	0.31838	0.0815:0.2988:0.6196:0.0	.	495	P54753	EPHB3_HUMAN	K	495	ENSP00000332118:E495K	ENSP00000332118:E495K	E	+	1	0	EPHB3	185778143	1.000000	0.71417	0.988000	0.46212	0.843000	0.47879	3.842000	0.55858	0.614000	0.30107	0.448000	0.29417	GAG		PASS	0.657	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		53	319	53	319	---	---	---	---
FGF12	2257	broad.mit.edu	37	3	192125893	192125893	+	Silent	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:192125893C>A	ENST00000454309.2	-	1	945	c.120G>T	c.(118-120)ctG>ctT	p.L40L	FGF12_ENST00000430714.1_Intron|FGF12_ENST00000450716.1_Intron|FGF12_ENST00000264730.3_Intron|FGF12_ENST00000445105.2_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	40					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.L40L(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GCCTCTCGCACAGGGAGCGCC	0.672																																						uc003fsx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)|lung(1)|pancreas(1)	4						c.(118-120)CTG>CTT		fibroblast growth factor 12 isoform 1							62.0	72.0	69.0					3																	192125893		2196	4278	6474	SO:0001819	synonymous_variant	2257				cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	g.chr3:192125893C>A	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.120G>T	3.37:g.192125893C>A						FGF12_uc003fsy.2_Intron	p.L40L	NM_021032	NP_066360	P61328	FGF12_HUMAN	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)	1	946	-	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	40					B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Silent	SNP	ENST00000454309.2	37	c.120G>T	CCDS3301.1																																																																																				PASS	0.672	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343160.1	NM_021032		148	319	148	319	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193232645	193232645	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:193232645G>A	ENST00000342695.4	-	2	398	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ATP13A4_ENST00000392443.3_Missense_Mutation_p.R26W|ATP13A4_ENST00000295548.3_Missense_Mutation_p.R26W	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	26						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.R26W(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCTTGAGTCCGATAGCCAAAT	0.418																																						uc003ftd.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(2)	2						c.(76-78)CGG>TGG		ATPase type 13A4							58.0	60.0	59.0					3																	193232645		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193232645G>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.76C>T	3.37:g.193232645G>A	ENSP00000339182:p.Arg26Trp					ATP13A4_uc003fte.1_Missense_Mutation_p.R26W|ATP13A4_uc011bsr.1_5'UTR	p.R26W	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	2	184	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		26			Cytoplasmic (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.76C>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855956	0.71834	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;T	0.27402	1.67;1.67;1.67	5.63	5.63	0.86233	.	0.250032	0.28470	N	0.015224	T	0.51584	0.1683	M	0.72353	2.195	0.39093	D	0.96113	D;D	0.65815	0.993;0.995	P;D	0.64595	0.88;0.927	T	0.56817	-0.7916	10	0.87932	D	0	-11.4487	12.0666	0.53592	0.0:0.0:0.7323:0.2677	.	26;26	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	W	26	ENSP00000376238:R26W;ENSP00000339182:R26W;ENSP00000295548:R26W	ENSP00000295548:R26W	R	-	1	2	ATP13A4	194715339	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.387000	0.52501	2.635000	0.89317	0.655000	0.94253	CGG		PASS	0.418	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		11	111	11	111	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197421306	197421306	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr3:197421306G>A	ENST00000296343.5	-	10	1623	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	KIAA0226_ENST00000389665.5_Missense_Mutation_p.R542W|KIAA0226_ENST00000273582.5_Missense_Mutation_p.R497W	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	542					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.R497W(3)|p.R542W(3)|p.R390W(3)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGCTGGCGCCGAAGGCGGATC	0.542																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2																			9	Substitution - Missense(9)		upper_aerodigestive_tract(3)|NS(3)|lung(3)		0						c.(1624-1626)CGG>TGG		hypothetical protein LOC9711 isoform 2.							156.0	167.0	164.0					3																	197421306		2074	4200	6274	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197421306G>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1624C>T	3.37:g.197421306G>A	ENSP00000296343:p.Arg542Trp					KIAA0226_uc003fyd.3_Missense_Mutation_p.R497W|KIAA0226_uc003fye.1_Missense_Mutation_p.R249W|KIAA0226_uc003fyf.2_Missense_Mutation_p.R390W	p.R542W	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	10	1807	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		542					Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.1624C>T	CCDS43195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.436839|4.436839	0.83885|0.83885	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000273582;ENST00000296343;ENST00000389665;ENST00000447048|ENST00000413360	.|.	.|.	.|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.68550|0.68550	0.3013|0.3013	L|L	0.55990|0.55990	1.75|1.75	0.54753|0.54753	D|D	0.999984|0.999984	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.997;1.0;1.0;0.999|.	T|T	0.66988|0.66988	-0.5784|-0.5784	9|5	0.87932|.	D|.	0|.	.|.	14.8011|14.8011	0.69916|0.69916	0.0:0.0:0.8556:0.1444|0.0:0.0:0.8556:0.1444	.|.	390;542;497;542|.	Q5HYI6;Q92622-3;Q92622-2;Q92622|.	.;.;.;RUBIC_HUMAN|.	W|L	497;542;542;142|503	.|.	ENSP00000273582:R497W|.	R|S	-|-	1|2	2|0	KIAA0226|KIAA0226	198905703|198905703	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	4.228000|4.228000	0.58619|0.58619	2.338000|2.338000	0.79540|0.79540	0.558000|0.558000	0.71614|0.71614	CGG|TCG		PASS	0.542	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		24	616	24	616	---	---	---	---
ZFYVE28	57732	broad.mit.edu	37	4	2307005	2307005	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:2307005G>A	ENST00000290974.2	-	8	1401	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D	ZFYVE28_ENST00000511071.1_Silent_p.D324D|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Silent_p.D284D	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	354					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.D354D(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						AGGACATCTCGTCCCCCGCCC	0.657																																						uc003gex.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1060-1062)GAC>GAT		zinc finger, FYVE domain containing 28							47.0	48.0	48.0					4																	2307005		2203	4299	6502	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2307005G>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1062C>T	4.37:g.2307005G>A						ZFYVE28_uc011bvk.1_Silent_p.D284D|ZFYVE28_uc011bvl.1_Silent_p.D324D|ZFYVE28_uc003gew.1_Silent_p.D240D	p.D354D	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			8	1381	-			354					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.1062C>T	CCDS33942.1																																																																																				PASS	0.657	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		27	87	27	87	---	---	---	---
DRD5	1816	broad.mit.edu	37	4	9784820	9784820	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:9784820C>T	ENST00000304374.2	+	1	1563	c.1167C>T	c.(1165-1167)atC>atT	p.I389I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	389					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.I389I(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CGGTGAACATCAGCAATGAGC	0.572																																						uc003gmb.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1165-1167)ATC>ATT		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						87.0	69.0	75.0					4																	9784820		2203	4300	6503	SO:0001819	synonymous_variant	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784820C>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1167C>T	4.37:g.9784820C>T							p.I389I	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1563	+			389			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Silent	SNP	ENST00000304374.2	37	c.1167C>T	CCDS3405.1																																																																																				PASS	0.572	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			13	104	13	104	---	---	---	---
HS3ST1	9957	broad.mit.edu	37	4	11400967	11400967	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:11400967G>A	ENST00000002596.5	-	2	1837	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	221					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)	p.I221I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						AGGGGTCCCTGATGAGGCGGT	0.547																																						uc003gmq.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(661-663)ATC>ATT		heparan sulfate D-glucosaminyl							33.0	34.0	33.0					4																	11400967		2203	4300	6503	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11400967G>A	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.663C>T	4.37:g.11400967G>A							p.I221I	NM_005114	NP_005105	O14792	HS3S1_HUMAN			2	986	-			221					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.663C>T	CCDS3408.1																																																																																				PASS	0.547	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		13	34	13	34	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13605967	13605967	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:13605967C>G	ENST00000040738.5	-	10	2692	c.2557G>C	c.(2557-2559)Gat>Cat	p.D853H		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	853	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D853H(1)									CCCAGAGAATCTTTCTGAATT	0.368																																						uc003gmz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(2557-2559)GAT>CAT		biorientation of chromosomes in cell division							113.0	112.0	112.0					4																	13605967		2202	4298	6500	SO:0001583	missense	259282						DNA binding	g.chr4:13605967C>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2557G>C	4.37:g.13605967C>G	ENSP00000040738:p.Asp853His					BOD1L_uc010idr.1_Missense_Mutation_p.D190H	p.D853H	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	2674	-			853			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.2557G>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534717	0.64972	.	.	ENSG00000038219	ENST00000040738	T	0.12361	2.69	4.91	4.91	0.64330	.	0.328529	0.21957	N	0.066652	T	0.36441	0.0967	M	0.63843	1.955	0.42695	D	0.993596	D	0.89917	1.0	D	0.74023	0.982	T	0.14643	-1.0465	10	0.66056	D	0.02	-4.6989	18.0717	0.89410	0.0:1.0:0.0:0.0	.	853	Q8NFC6	BOD1L_HUMAN	H	853	ENSP00000040738:D853H	ENSP00000040738:D853H	D	-	1	0	BOD1L	13215065	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	5.359000	0.66074	2.264000	0.75181	0.557000	0.71058	GAT		PASS	0.368	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		7	61	7	61	---	---	---	---
CLRN2	645104	broad.mit.edu	37	4	17528677	17528677	+	Missense_Mutation	SNP	C	C	A	rs201470083		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:17528677C>A	ENST00000511148.2	+	3	773	c.671C>A	c.(670-672)aCg>aAg	p.T224K	snoU13_ENST00000459186.1_RNA	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	224						integral component of membrane (GO:0016021)		p.T241K(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GAAGAGGCCACGGTCACAGCT	0.512																																						uc003gpg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(670-672)ACG>AAG		clarin 2							121.0	125.0	124.0					4																	17528677		2132	4239	6371	SO:0001583	missense	645104					integral to membrane		g.chr4:17528677C>A		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.671C>A	4.37:g.17528677C>A	ENSP00000424711:p.Thr224Lys						p.T224K	NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN			3	773	+			224						Missense_Mutation	SNP	ENST00000511148.2	37	c.671C>A	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410543	0.62399	.	.	ENSG00000249581	ENST00000511148	T	0.78595	-1.19	5.61	4.71	0.59529	.	0.166690	0.51477	D	0.000087	T	0.64527	0.2606	N	0.19112	0.55	0.42564	D	0.993159	P	0.38827	0.649	B	0.37731	0.257	T	0.70288	-0.4913	10	0.72032	D	0.01	-15.3747	11.7135	0.51639	0.3338:0.6662:0.0:0.0	.	224	A0PK11	CLRN2_HUMAN	K	224	ENSP00000424711:T224K	ENSP00000424711:T224K	T	+	2	0	CLRN2	17137775	0.954000	0.32549	0.996000	0.52242	0.872000	0.50106	2.157000	0.42320	2.656000	0.90262	0.655000	0.94253	ACG		PASS	0.512	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		59	235	59	235	---	---	---	---
NCAPG	64151	broad.mit.edu	37	4	17841431	17841431	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:17841431C>T	ENST00000251496.2	+	17	2775	c.2599C>T	c.(2599-2601)Ctt>Ttt	p.L867F		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	867					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L867F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TGCAAAAGATCTTCTGGTTCT	0.338																																						uc003gpp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2599-2601)CTT>TTT		chromosome condensation protein G							47.0	48.0	48.0					4																	17841431		2203	4300	6503	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17841431C>T	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2599C>T	4.37:g.17841431C>T	ENSP00000251496:p.Leu867Phe					NCAPG_uc011bxj.1_Missense_Mutation_p.L376F	p.L867F	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	17	2775	+			867			HEAT 10.		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.2599C>T	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911373	0.52439	.	.	ENSG00000109805	ENST00000251496	T	0.38240	1.15	5.83	4.97	0.65823	.	0.060679	0.64402	D	0.000002	T	0.61311	0.2337	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66292	-0.5960	10	0.66056	D	0.02	-9.939	16.0717	0.80940	0.135:0.865:0.0:0.0	.	867	Q9BPX3	CND3_HUMAN	F	867	ENSP00000251496:L867F	ENSP00000251496:L867F	L	+	1	0	NCAPG	17450529	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	1.405000	0.34635	1.415000	0.47037	0.655000	0.94253	CTT		PASS	0.338	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		6	22	6	22	---	---	---	---
SPINK2	6691	broad.mit.edu	37	4	57686746	57686746	+	Splice_Site	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:57686746C>A	ENST00000248701.4	-	2	135		c.e2-1		Y_RNA_ENST00000515990.1_RNA|SPINK2_ENST00000504762.1_Splice_Site|SPINK2_ENST00000506738.1_Splice_Site	NM_021114.2	NP_066937.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)						negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					ATCAGAGAGGCTGTAAGAAGA	0.348																																						uc003hcg.1																			1	Unknown(1)		lung(1)		0						c.e2-1		serine protease inhibitor, Kazal type 2							97.0	108.0	104.0					4																	57686746		2203	4300	6503	SO:0001630	splice_region_variant	6691					extracellular region	serine-type endopeptidase inhibitor activity	g.chr4:57686746C>A	BC022514	CCDS3508.1, CCDS63971.1, CCDS63972.1, CCDS75128.1	4q12	2011-08-31	2005-08-17		ENSG00000128040	ENSG00000128040		"""Serine peptidase inhibitors, Kazal type"""	11245	protein-coding gene	gene with protein product		605753	"""serine protease inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)"""			8428671	Standard	NM_001271718		Approved	HUSI-II	uc031sep.1	P20155	OTTHUMG00000128769	ENST00000248701.4:c.56-1G>T	4.37:g.57686746C>A							p.A19_splice	NM_021114	NP_066937	P20155	ISK2_HUMAN			2	121	-	Glioma(25;0.08)|all_neural(26;0.181)							Q6FGH2	Splice_Site	SNP	ENST00000248701.4	37	c.56_splice	CCDS3508.1	.	.	.	.	.	.	.	.	.	.	C	10.35	1.325709	0.24080	.	.	ENSG00000128040	ENST00000248701;ENST00000506738;ENST00000504762	.	.	.	3.29	3.29	0.37713	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3526	0.43945	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPINK2	57381503	0.119000	0.22226	0.893000	0.35052	0.059000	0.15707	2.808000	0.47963	2.154000	0.67381	0.455000	0.32223	.		PASS	0.348	SPINK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250690.2	NM_021114	Intron	27	142	27	142	---	---	---	---
REST	5978	broad.mit.edu	37	4	57796764	57796764	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:57796764G>C	ENST00000309042.7	+	4	2054	c.1740G>C	c.(1738-1740)aaG>aaC	p.K580N		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	580	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.K580N(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAGTACAAAGAAGAAAACTC	0.388																																						uc003hch.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9						c.(1738-1740)AAG>AAC		RE1-silencing transcription factor							19.0	21.0	21.0					4																	57796764		2183	4281	6464	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796764G>C	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1740G>C	4.37:g.57796764G>C	ENSP00000311816:p.Lys580Asn					REST_uc003hci.2_Missense_Mutation_p.K580N|REST_uc010ihf.2_Missense_Mutation_p.K254N	p.K580N	NM_005612	NP_005603	Q13127	REST_HUMAN			4	2087	+	Glioma(25;0.08)|all_neural(26;0.181)		580			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.1740G>C	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566288	0.45694	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.46063	0.88	5.77	4.75	0.60458	.	0.084257	0.48286	D	0.000186	T	0.57460	0.2055	M	0.77103	2.36	0.42395	D	0.99254	D;D	0.63046	0.992;0.961	P;P	0.62298	0.9;0.708	T	0.60934	-0.7164	10	0.59425	D	0.04	-12.8599	7.0024	0.24817	0.2392:0.0:0.7608:0.0	.	557;580	F8WAN5;Q13127	.;REST_HUMAN	N	580;557	ENSP00000311816:K580N	ENSP00000311816:K580N	K	+	3	2	REST	57491521	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	1.862000	0.39448	2.724000	0.93272	0.561000	0.74099	AAG		PASS	0.388	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		9	51	9	51	---	---	---	---
POLR2B	5431	broad.mit.edu	37	4	57889874	57889874	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:57889874G>A	ENST00000381227.1	+	21	3226	c.2813G>A	c.(2812-2814)cGa>cAa	p.R938Q	POLR2B_ENST00000441246.2_Missense_Mutation_p.R931Q|POLR2B_ENST00000314595.5_Missense_Mutation_p.R938Q|POLR2B_ENST00000431623.2_Missense_Mutation_p.R863Q			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	938					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.R938Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTGCTAGTCGACATGGTCAA	0.338																																						uc003hcl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2812-2814)CGA>CAA		DNA directed RNA polymerase II polypeptide B							95.0	94.0	94.0					4																	57889874		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57889874G>A		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2813G>A	4.37:g.57889874G>A	ENSP00000370625:p.Arg938Gln					POLR2B_uc011cae.1_Missense_Mutation_p.R931Q|POLR2B_uc011caf.1_Missense_Mutation_p.R863Q|POLR2B_uc003hcm.1_Missense_Mutation_p.R431Q	p.R938Q	NM_000938	NP_000929	P30876	RPB2_HUMAN			20	2856	+	Glioma(25;0.08)|all_neural(26;0.181)		938					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.2813G>A	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203132	0.95033	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.86	5.86	0.93980	RNA polymerase, beta subunit, conserved site (1);DNA-directed RNA polymerase, subunit 2, domain 6 (2);	0.000000	0.64402	D	0.000001	D	0.96144	0.8743	H	0.99758	4.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97535	1.0082	10	0.87932	D	0	.	14.9685	0.71213	0.0:0.0:0.8574:0.1426	.	863;938	C9J4M6;P30876	.;RPB2_HUMAN	Q	938;863;931;938	ENSP00000370625:R938Q;ENSP00000391096:R863Q;ENSP00000391452:R931Q;ENSP00000312735:R938Q	ENSP00000312735:R938Q	R	+	2	0	POLR2B	57584631	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.855000	0.99526	2.771000	0.95319	0.563000	0.77884	CGA		PASS	0.338	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		35	132	35	132	---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69188478	69188478	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:69188478C>T	ENST00000344157.4	-	11	1925	c.1590G>A	c.(1588-1590)cgG>cgA	p.R530R	YTHDC1_ENST00000579690.1_Silent_p.R530R|YTHDC1_ENST00000355665.3_Silent_p.R512R	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	530	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R530R(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TTCCCACATCCCGGACTGGTT	0.448																																						uc003hdx.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1588-1590)CGG>CGA		splicing factor YT521-B isoform 1							82.0	80.0	81.0					4																	69188478		2203	4300	6503	SO:0001819	synonymous_variant	91746							g.chr4:69188478C>T	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1590G>A	4.37:g.69188478C>T						YTHDC1_uc003hdy.2_Silent_p.R512R	p.R530R	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN			11	1943	-			530			Arg-rich.		Q4W5Q3|Q7Z622|Q8TF35	Silent	SNP	ENST00000344157.4	37	c.1590G>A	CCDS33992.1																																																																																				PASS	0.448	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		29	43	29	43	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71510219	71510219	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:71510219G>C	ENST00000396073.3	+	9	3357	c.3076G>C	c.(3076-3078)Gaa>Caa	p.E1026Q	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1026					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.E1026Q(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TACACCTGATGAAGGCTCCAA	0.433																																						uc011caw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3076-3078)GAA>CAA		enamelin precursor							120.0	106.0	110.0					4																	71510219		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71510219G>C	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.3076G>C	4.37:g.71510219G>C	ENSP00000379383:p.Glu1026Gln						p.E1026Q	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	3357	+			1026					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.3076G>C	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	9.534	1.111535	0.20714	.	.	ENSG00000132464	ENST00000396073	T	0.39229	1.09	5.97	1.41	0.22369	.	0.334009	0.26010	N	0.026897	T	0.40932	0.1137	M	0.65498	2.005	0.09310	N	1	P	0.44429	0.835	P	0.45856	0.495	T	0.30621	-0.9972	10	0.59425	D	0.04	-9.535	4.7276	0.12948	0.2261:0.3184:0.4555:0.0	.	1026	Q9NRM1	ENAM_HUMAN	Q	1026	ENSP00000379383:E1026Q	ENSP00000379383:E1026Q	E	+	1	0	ENAM	71729083	0.399000	0.25287	0.104000	0.21259	0.247000	0.25773	0.605000	0.24179	0.216000	0.20781	0.655000	0.94253	GAA		PASS	0.433	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		37	148	37	148	---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72319301	72319301	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:72319301C>T	ENST00000264485.5	+	12	1529	c.1412C>T	c.(1411-1413)tCg>tTg	p.S471L	SLC4A4_ENST00000425175.1_Missense_Mutation_p.S471L|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S471L|SLC4A4_ENST00000512686.1_Missense_Mutation_p.S427L|SLC4A4_ENST00000340595.3_Missense_Mutation_p.S427L|SLC4A4_ENST00000514331.1_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	471			S -> L (in pRTA-OA; mistargeting to the apical membrane and altered function). {ECO:0000269|PubMed:15471865, ECO:0000269|PubMed:15713912}.		bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.S427L(1)|p.S471L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CAAGCTCTTTCGGCAATTCTC	0.413																																						uc003hfy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|skin(1)	5	GRCh37	CM043580	SLC4A4	M		c.(1411-1413)TCG>TTG		solute carrier family 4, sodium bicarbonate							204.0	204.0	204.0					4																	72319301		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72319301C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1412C>T	4.37:g.72319301C>T	ENSP00000264485:p.Ser471Leu					SLC4A4_uc010iic.2_Missense_Mutation_p.S471L|SLC4A4_uc010iib.2_Missense_Mutation_p.S471L|SLC4A4_uc003hfz.2_Missense_Mutation_p.S471L|SLC4A4_uc003hgc.3_Missense_Mutation_p.S427L|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.S349L|SLC4A4_uc003hgb.3_Missense_Mutation_p.S427L	p.S471L	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		12	1529	+			471		S -> L (in pRTA-OA; mistargeting to the apical membrane and altered function).	Helical; (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1412C>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	34	5.299794	0.95574	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	6.03	6.03	0.97812	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	M	0.86343	2.81	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.973;1.0;0.998;1.0;0.993	D	0.91960	0.5578	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	471;471;427;427;451;471	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	L	471;471;471;427;427	ENSP00000264485:S471L;ENSP00000393557:S471L;ENSP00000307349:S471L;ENSP00000422400:S427L;ENSP00000344272:S427L	ENSP00000264485:S471L	S	+	2	0	SLC4A4	72538165	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.792000	0.85828	2.861000	0.98227	0.655000	0.94253	TCG		PASS	0.413	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		55	238	55	238	---	---	---	---
NPFFR2	10886	broad.mit.edu	37	4	73012911	73012911	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:73012911G>A	ENST00000308744.6	+	4	1049	c.951G>A	c.(949-951)atG>atA	p.M317I	NPFFR2_ENST00000358749.3_Missense_Mutation_p.M215I|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.M218I	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	317					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.M317I(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ATCAGGAAATGAGGAAGATCT	0.463																																						uc003hgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(949-951)ATG>ATA		neuropeptide FF receptor 2 isoform 1							111.0	93.0	99.0					4																	73012911		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73012911G>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.951G>A	4.37:g.73012911G>A	ENSP00000307822:p.Met317Ile					NPFFR2_uc010iig.1_Missense_Mutation_p.M99I|NPFFR2_uc003hgi.2_Missense_Mutation_p.M218I|NPFFR2_uc003hgh.2_Missense_Mutation_p.M215I|NPFFR2_uc003hgj.2_RNA	p.M317I	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1049	+			317			Extracellular (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.951G>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081455	0.55753	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.35048	1.33;1.33;1.33	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.49830	0.1580	L	0.56199	1.76	0.80722	D	1	P;P	0.42248	0.732;0.774	B;P	0.51918	0.333;0.684	T	0.12477	-1.0546	10	0.24483	T	0.36	.	19.9007	0.96985	0.0:0.0:1.0:0.0	.	218;317	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	I	317;218;215	ENSP00000307822:M317I;ENSP00000379321:M218I;ENSP00000351599:M215I	ENSP00000307822:M317I	M	+	3	0	NPFFR2	73231775	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	9.704000	0.98716	2.791000	0.96007	0.655000	0.94253	ATG		PASS	0.463	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		17	89	17	89	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77662936	77662936	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:77662936G>A	ENST00000296043.6	+	5	4563	c.3610G>A	c.(3610-3612)Gag>Aag	p.E1204K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1204					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.E1203K(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAGAGGGGATGAGACCCCCAG	0.706																																						uc011cbx.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(3610-3612)GAG>AAG		shroom family member 3 protein							7.0	6.0	6.0					4																	77662936		2121	4188	6309	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77662936G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.3610G>A	4.37:g.77662936G>A	ENSP00000296043:p.Glu1204Lys					SHROOM3_uc011cbz.1_Missense_Mutation_p.E1028K|SHROOM3_uc003hkf.1_Missense_Mutation_p.E1079K|SHROOM3_uc003hkg.2_Missense_Mutation_p.E982K	p.E1204K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	4563	+			1204					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.3610G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	0.208	-1.038915	0.02013	.	.	ENSG00000138771	ENST00000296043	T	0.20332	2.08	5.34	-10.7	0.00240	.	1.241210	0.05582	N	0.573036	T	0.06142	0.0159	N	0.14661	0.345	0.09310	N	1	B;B;B	0.20164	0.042;0.042;0.023	B;B;B	0.13407	0.009;0.006;0.006	T	0.27536	-1.0071	10	0.02654	T	1	0.073	1.5716	0.02616	0.2464:0.3161:0.2623:0.1751	.	1028;1204;982	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	K	1204	ENSP00000296043:E1204K	ENSP00000296043:E1204K	E	+	1	0	SHROOM3	77881960	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.394000	0.07296	-1.917000	0.01074	-0.140000	0.14226	GAG		PASS	0.706	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	7	5	7	---	---	---	---
IBSP	3381	broad.mit.edu	37	4	88723554	88723554	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:88723554C>T	ENST00000226284.5	+	2	108	c.41C>T	c.(40-42)gCc>gTc	p.A14V		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	14					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.A14V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TTGGGAATGGCCTGTGCTTTC	0.284																																						uc003hqx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)GCC>GTC		integrin-binding sialoprotein precursor							63.0	62.0	62.0					4																	88723554		2203	4297	6500	SO:0001583	missense	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88723554C>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.41C>T	4.37:g.88723554C>T	ENSP00000226284:p.Ala14Val						p.A14V	NM_004967	NP_004958	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	2	139	+		Hepatocellular(203;0.114)	14						Missense_Mutation	SNP	ENST00000226284.5	37	c.41C>T	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979961	0.74360	.	.	ENSG00000029559	ENST00000226284	T	0.27402	1.67	5.48	4.61	0.57282	.	0.000000	0.64402	D	0.000004	T	0.26557	0.0649	L	0.36672	1.1	0.37972	D	0.933319	B	0.21225	0.053	B	0.25987	0.065	T	0.14559	-1.0468	10	0.87932	D	0	.	10.7803	0.46374	0.0:0.9062:0.0:0.0938	.	14	P21815	SIAL_HUMAN	V	14	ENSP00000226284:A14V	ENSP00000226284:A14V	A	+	2	0	IBSP	88942578	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	3.069000	0.50026	1.268000	0.44264	0.586000	0.80456	GCC		PASS	0.284	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2			18	79	18	79	---	---	---	---
ADH1C	126	broad.mit.edu	37	4	100268235	100268235	+	RNA	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:100268235G>A	ENST00000510055.1	-	0	361				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AAAATCACAGGAAGGGGGGTC	0.488																																						uc003huu.2																			0					0						c.(187-189)CCT>TCT		class I alcohol dehydrogenase, gamma subunit	Fomepizole(DB01213)|NADH(DB00157)						155.0	155.0	155.0					4																	100268235		2203	4300	6503			126	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100268235G>A	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100268235G>A							p.P63S	NM_000669	NP_000660	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	3	272	-			63					Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Missense_Mutation	SNP	ENST00000510055.1	37	c.187C>T																																																																																					PASS	0.488	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000365189.2	NM_000669		46	246	46	246	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114280095	114280095	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:114280095C>G	ENST00000357077.4	+	38	10374	c.10321C>G	c.(10321-10323)Cga>Gga	p.R3441G	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R3408G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3441					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R3441G(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTTACATCCCGATTGCCAGT	0.478																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(10321-10323)CGA>GGA		ankyrin 2 isoform 1							68.0	76.0	73.0					4																	114280095		2201	4300	6501	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114280095C>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10321C>G	4.37:g.114280095C>G	ENSP00000349588:p.Arg3441Gly					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.R743G|ANK2_uc011cgb.1_Missense_Mutation_p.R3456G	p.R3441G	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	10421	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3408					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10321C>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894310	0.33442	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.97404	-0.75;-0.77;-4.37	5.67	2.63	0.31362	.	0.153716	0.29924	N	0.010847	D	0.97470	0.9172	M	0.70275	2.135	0.80722	D	1	D;D	0.58970	0.984;0.984	P;P	0.59115	0.687;0.852	D	0.96270	0.9198	10	0.34782	T	0.22	.	15.2022	0.73150	0.4572:0.5428:0.0:0.0	.	3408;3441	Q01484;Q01484-4	ANK2_HUMAN;.	G	3441;3408;451	ENSP00000349588:R3441G;ENSP00000264366:R3408G;ENSP00000422498:R451G	ENSP00000264366:R3408G	R	+	1	2	ANK2	114499544	0.995000	0.38212	0.819000	0.32651	0.972000	0.66771	2.764000	0.47613	0.707000	0.31934	0.650000	0.86243	CGA		PASS	0.478	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		23	92	23	92	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146686798	146686798	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:146686798C>G	ENST00000508784.1	-	12	3180	c.2953G>C	c.(2953-2955)Gat>Cat	p.D985H	ZNF827_ENST00000379448.4_Missense_Mutation_p.D985H|ZNF827_ENST00000513320.1_Missense_Mutation_p.D635H			Q17R98	ZN827_HUMAN	zinc finger protein 827	985					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D985H(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGGGAGCCATCTGAATCATCT	0.517																																						uc003ikn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2953-2955)GAT>CAT		zinc finger protein 827							127.0	122.0	123.0					4																	146686798		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146686798C>G	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2953G>C	4.37:g.146686798C>G	ENSP00000421863:p.Asp985His					ZNF827_uc003ikm.2_Missense_Mutation_p.D985H|ZNF827_uc010iox.2_Missense_Mutation_p.D635H|ZNF827_uc003ikl.2_Missense_Mutation_p.D70H	p.D985H	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			12	3001	-	all_hematologic(180;0.151)		985					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.2953G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.729080|4.729080	0.89390|0.89390	.|.	.|.	ENSG00000151612|ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280|ENST00000511659	T;T;T|.	0.08546|.	3.15;3.08;3.2|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58906|0.58906	0.2155|0.2155	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;0.999|.	D;D;D;D|.	0.87578|.	0.998;0.995;0.998;0.995|.	T|T	0.52997|0.52997	-0.8500|-0.8500	10|5	0.59425|.	D|.	0.04|.	-21.9517|-21.9517	19.3254|19.3254	0.94260|0.94260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	635;985;985;635|.	G5E9Z1;Q17R98;Q17R98-2;E7ESI8|.	.;ZN827_HUMAN;.;.|.	H|H	985;635;985;984;635|85	ENSP00000421863:D985H;ENSP00000423130:D635H;ENSP00000368761:D985H|.	ENSP00000281318:D984H|.	D|Q	-|-	1|3	0|2	ZNF827|ZNF827	146906248|146906248	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.994000|0.994000	0.84299|0.84299	7.059000|7.059000	0.76684|0.76684	2.556000|2.556000	0.86216|0.86216	0.655000|0.655000	0.94253|0.94253	GAT|CAG		PASS	0.517	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		16	290	16	290	---	---	---	---
TRIM75P	391714	broad.mit.edu	37	4	165980916	165980916	+	IGR	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:165980916C>T								TRIM60 (18020 upstream) : RP11-219C20.3 (10843 downstream)																							TCCAGATTAGCTGAAGAAGAG	0.423																																						uc011cjl.1																			0											c.(616-618)GCT>GTT		tripartite motif-containing 75							64.0	60.0	61.0					4																	165980916		1933	4126	6059	SO:0001628	intergenic_variant	0							g.chr4:165980916C>T																													4.37:g.165980916C>T							p.A206V	NM_001105575	NP_001099045					1	617	+									Missense_Mutation	SNP		37	c.617C>T																																																																																				0	PASS	0.423									15	52	15	52	---	---	---	---
SPATA4	132851	broad.mit.edu	37	4	177114152	177114152	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:177114152C>G	ENST00000280191.2	-	3	532	c.424G>C	c.(424-426)Gaa>Caa	p.E142Q	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	142						cytoplasm (GO:0005737)		p.E142Q(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		ATCAATATTTCAGGCACTCCA	0.279																																						uc003iuo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(424-426)GAA>CAA		spermatogenesis associated 4							61.0	64.0	63.0					4																	177114152		2203	4294	6497	SO:0001583	missense	132851				apoptosis|spermatogenesis			g.chr4:177114152C>G	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.424G>C	4.37:g.177114152C>G	ENSP00000280191:p.Glu142Gln						p.E142Q	NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	3	533	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	142					Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	c.424G>C	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436517	0.62955	.	.	ENSG00000150628	ENST00000280191	T	0.31247	1.5	5.45	5.45	0.79879	.	0.057632	0.64402	D	0.000003	T	0.49304	0.1549	M	0.69248	2.105	0.80722	D	1	P	0.49862	0.929	P	0.57548	0.823	T	0.31558	-0.9939	10	0.35671	T	0.21	-18.5547	16.5682	0.84604	0.0:1.0:0.0:0.0	.	142	Q8NEY3	SPAT4_HUMAN	Q	142	ENSP00000280191:E142Q	ENSP00000280191:E142Q	E	-	1	0	SPATA4	177351146	1.000000	0.71417	0.993000	0.49108	0.809000	0.45718	4.662000	0.61525	2.705000	0.92388	0.655000	0.94253	GAA		PASS	0.279	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		8	45	8	45	---	---	---	---
SPATA4	132851	broad.mit.edu	37	4	177114705	177114705	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:177114705C>G	ENST00000280191.2	-	2	355	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	83						cytoplasm (GO:0005737)		p.E83Q(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		cagaatatttctgcaattagg	0.323																																						uc003iuo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)GAA>CAA		spermatogenesis associated 4							46.0	46.0	46.0					4																	177114705		2203	4300	6503	SO:0001583	missense	132851				apoptosis|spermatogenesis			g.chr4:177114705C>G	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.247G>C	4.37:g.177114705C>G	ENSP00000280191:p.Glu83Gln						p.E83Q	NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	2	356	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	83					Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	c.247G>C	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987057	0.53934	.	.	ENSG00000150628	ENST00000280191	T	0.34072	1.38	5.64	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.91249	3.19	0.80722	D	1	P	0.43662	0.814	P	0.48189	0.57	T	0.67696	-0.5604	10	0.66056	D	0.02	-15.5988	14.0349	0.64638	0.0:0.8483:0.1516:0.0	.	83	Q8NEY3	SPAT4_HUMAN	Q	83	ENSP00000280191:E83Q	ENSP00000280191:E83Q	E	-	1	0	SPATA4	177351699	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	2.766000	0.47629	1.485000	0.48380	0.561000	0.74099	GAA		PASS	0.323	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		22	67	22	67	---	---	---	---
WWC2	80014	broad.mit.edu	37	4	184182541	184182541	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr4:184182541G>T	ENST00000403733.3	+	11	1964	c.1765G>T	c.(1765-1767)Gag>Tag	p.E589*	WWC2_ENST00000504005.1_Nonsense_Mutation_p.E271*|WWC2_ENST00000448232.2_Nonsense_Mutation_p.E589*|WWC2_ENST00000513834.1_Intron|WWC2_ENST00000378925.3_Nonsense_Mutation_p.E491*	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	589					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.E589*(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TGAAGACTGTGAGTTGAGTAG	0.468																																						uc010irx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1765-1767)GAG>TAG		WW and C2 domain containing 2							64.0	50.0	55.0					4																	184182541		2203	4300	6503	SO:0001587	stop_gained	80014							g.chr4:184182541G>T	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1765G>T	4.37:g.184182541G>T	ENSP00000384222:p.Glu589*					WWC2_uc003ivk.3_Nonsense_Mutation_p.E384*|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Nonsense_Mutation_p.E271*|WWC2_uc003ivn.3_Intron	p.E589*	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	11	1947	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	589					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Nonsense_Mutation	SNP	ENST00000403733.3	37	c.1765G>T	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	G	36	5.964461	0.97151	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000448232;ENST00000504005	.	.	.	5.07	5.07	0.68467	.	0.316889	0.30311	N	0.009911	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-16.0501	18.2509	0.90002	0.0:0.0:1.0:0.0	.	.	.	.	X	589;491;589;271	.	ENSP00000368205:E491X	E	+	1	0	WWC2	184419535	1.000000	0.71417	0.958000	0.39756	0.961000	0.63080	7.595000	0.82710	2.638000	0.89438	0.650000	0.86243	GAG		PASS	0.468	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		6	24	6	24	---	---	---	---
CEP72	55722	broad.mit.edu	37	5	637810	637810	+	Silent	SNP	C	C	T	rs551556889	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:637810C>T	ENST00000264935.5	+	7	1173	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	361					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.S361S(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			ATGGGTCCTCCGTGCCCAAGG	0.597													C|||	3	0.000599042	0.0	0.0	5008	,	,		21543	0.0		0.0	False		,,,				2504	0.0031					uc003jbf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1081-1083)TCC>TCT		centrosomal protein 72 kDa							43.0	40.0	41.0					5																	637810		2202	4300	6502	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:637810C>T	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1083C>T	5.37:g.637810C>T						CEP72_uc011clz.1_RNA	p.S361S	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		7	1155	+			361					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.1083C>T	CCDS34126.1																																																																																				PASS	0.597	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		67	88	67	88	---	---	---	---
FASTKD3	79072	broad.mit.edu	37	5	7867058	7867058	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:7867058C>T	ENST00000264669.5	-	2	1275	c.1139G>A	c.(1138-1140)aGa>aAa	p.R380K	MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	380					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)	p.R380K(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AATCAGTTCTCTACTGCAGTA	0.438																																						uc003jeb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(1138-1140)AGA>AAA		FAST kinase domains 3							65.0	66.0	66.0					5																	7867058		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867058C>T	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1139G>A	5.37:g.7867058C>T	ENSP00000264669:p.Arg380Lys					FASTKD3_uc011cmp.1_Missense_Mutation_p.R82K|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	p.R380K	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			2	1276	-			380					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.1139G>A	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	C	2.845	-0.239544	0.05944	.	.	ENSG00000124279	ENST00000264669	T	0.13196	2.61	5.13	2.14	0.27477	.	0.358003	0.30969	N	0.008514	T	0.08714	0.0216	L	0.52266	1.64	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.37820	-0.9689	10	0.06891	T	0.86	-10.2714	2.8555	0.05571	0.0:0.4084:0.2347:0.3568	.	380	Q14CZ7	FAKD3_HUMAN	K	380	ENSP00000264669:R380K	ENSP00000264669:R380K	R	-	2	0	FASTKD3	7920058	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	0.154000	0.16343	0.731000	0.32448	0.655000	0.94253	AGA		PASS	0.438	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		19	139	19	139	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19473633	19473633	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:19473633C>T	ENST00000507958.1	-	15	3065	c.2075G>A	c.(2074-2076)aGa>aAa	p.R692K	CDH18_ENST00000274170.4_Missense_Mutation_p.R692K|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.R692K			Q13634	CAD18_HUMAN	cadherin 18, type 2	692					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R692K(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CACTTCAGGTCTGATATCCCT	0.498																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(2074-2076)AGA>AAA		cadherin 18, type 2 preproprotein							183.0	158.0	166.0					5																	19473633		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473633C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2075G>A	5.37:g.19473633C>T	ENSP00000425093:p.Arg692Lys					CDH18_uc003jgd.2_Missense_Mutation_p.R692K|CDH18_uc011cnm.1_3'UTR	p.R692K	NM_004934	NP_004925	Q13634	CAD18_HUMAN			12	2452	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		692			Cytoplasmic (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.2075G>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	5.814	0.334506	0.11013	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.75477	-0.94;-0.94;-0.94	6.01	3.27	0.37495	Cadherin, cytoplasmic domain (1);	0.285168	0.38217	N	0.001762	T	0.54255	0.1847	N	0.17723	0.515	0.30298	N	0.789698	B	0.06786	0.001	B	0.09377	0.004	T	0.46076	-0.9217	9	.	.	.	.	7.4447	0.27205	0.1378:0.7186:0.0:0.1435	.	692	Q13634	CAD18_HUMAN	K	692	ENSP00000371710:R692K;ENSP00000425093:R692K;ENSP00000274170:R692K	.	R	-	2	0	CDH18	19509390	0.902000	0.30710	0.994000	0.49952	0.977000	0.68977	2.580000	0.46068	0.876000	0.35872	0.650000	0.86243	AGA		PASS	0.498	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		45	191	45	191	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21755941	21755941	+	Silent	SNP	C	C	T	rs201811162	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:21755941C>T	ENST00000382254.1	-	14	2730	c.1644G>A	c.(1642-1644)gcG>gcA	p.A548A	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Silent_p.A548A|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Silent_p.A508A	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A548A(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTCAATCCCCGCTGTGTTGT	0.428										HNSCC(59;0.17)			A|||	4	0.000798722	0.0	0.0029	5008	,	,		17386	0.002		0.0	False		,,,				2504	0.0					uc010iuc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1642-1644)GCG>GCA		cadherin 12, type 2 preproprotein		A		2,4404		0,2,2201	94.0	88.0	90.0		1644	4.3	1.0	5		90	1,8599		0,1,4299	no	coding-synonymous	CDH12	NM_004061.3		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		548/795	21755941	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21755941C>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1644G>A	5.37:g.21755941C>T		HNSCC(59;0.17)				CDH12_uc011cno.1_Silent_p.A508A|CDH12_uc003jgk.2_Silent_p.A548A|uc003jgj.2_Intron	p.A548A	NM_004061	NP_004052	P55289	CAD12_HUMAN			11	2102	-			548			Extracellular (Potential).|Cadherin 5.		B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.1644G>A	CCDS3890.1																																																																																				PASS	0.428	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		90	77	90	77	---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37303458	37303458	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:37303458C>G	ENST00000231498.3	-	28	3424	c.3221G>C	c.(3220-3222)aGa>aCa	p.R1074T	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.R1015T|NUP155_ENST00000513532.1_Missense_Mutation_p.R1010T	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1074					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.R1074T(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAACGAACTCTGTTTTGATC	0.398																																						uc003jku.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3220-3222)AGA>ACA		nucleoporin 155kDa isoform 1							98.0	91.0	93.0					5																	37303458		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37303458C>G	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3221G>C	5.37:g.37303458C>G	ENSP00000231498:p.Arg1074Thr					NUP155_uc003jkt.1_Missense_Mutation_p.R1015T|NUP155_uc010iuz.1_Missense_Mutation_p.R1010T	p.R1074T	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		28	3339	-	all_lung(31;0.000137)		1074					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.3221G>C	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608257	0.46527	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.76186	-0.99;-0.99;-1.0	5.71	3.37	0.38596	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.088862	0.85682	D	0.000000	T	0.56156	0.1966	N	0.24115	0.695	0.32066	N	0.595069	B;B	0.14438	0.01;0.002	B;B	0.18263	0.016;0.021	T	0.51965	-0.8638	10	0.14656	T	0.56	-0.83	8.9212	0.35612	0.0:0.1552:0.0:0.8448	.	1010;1074	E9PF10;O75694	.;NU155_HUMAN	T	1074;1015;1036;1010	ENSP00000231498:R1074T;ENSP00000371265:R1015T;ENSP00000422019:R1010T	ENSP00000231498:R1074T	R	-	2	0	NUP155	37339215	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.800000	0.62524	0.468000	0.27243	-0.302000	0.09304	AGA		PASS	0.398	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		11	144	11	144	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38407939	38407939	+	Missense_Mutation	SNP	C	C	T	rs35860390		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:38407939C>T	ENST00000354891.3	+	9	1526	c.1180C>T	c.(1180-1182)Cac>Tac	p.H394Y	EGFLAM_ENST00000322350.5_Missense_Mutation_p.H394Y|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.H160Y	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	394	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.H394Y(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTTCTTTGGCCACTCCTATGT	0.343																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			2	Substitution - Missense(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(1180-1182)CAC>TAC		EGF-like, fibronectin type III and laminin G							194.0	184.0	187.0					5																	38407939		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407939C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1180C>T	5.37:g.38407939C>T	ENSP00000346964:p.His394Tyr					EGFLAM_uc003jlb.1_Missense_Mutation_p.H394Y|EGFLAM_uc003jle.1_Missense_Mutation_p.H160Y|EGFLAM_uc003jlf.1_Intron	p.H394Y	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			9	1504	+	all_lung(31;0.000385)		394			Laminin G-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1180C>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596524	0.28445	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79454	-1.27;-1.27;-1.27	5.53	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.156118	0.64402	N	0.000015	T	0.50871	0.1641	N	0.03115	-0.41	0.80722	D	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.09377	0.004;0.002;0.003	T	0.43940	-0.9360	10	0.10111	T	0.7	0.8641	8.8	0.34903	0.0:0.7855:0.0:0.2145	.	160;394;394	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	Y	394;394;160;160	ENSP00000346964:H394Y;ENSP00000313084:H394Y;ENSP00000337607:H160Y	ENSP00000313084:H394Y	H	+	1	0	EGFLAM	38443696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.938000	0.48987	1.344000	0.45657	0.650000	0.86243	CAC		PASS	0.343	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		38	102	38	102	---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66427717	66427717	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:66427717G>T	ENST00000403625.2	+	16	2326	c.2031G>T	c.(2029-2031)acG>acT	p.T677T	MAST4_ENST00000405643.1_Silent_p.T498T|MAST4_ENST00000403666.1_Silent_p.T488T|MAST4_ENST00000404260.3_Silent_p.T680T|MAST4_ENST00000261569.7_Silent_p.T483T	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	680	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			FAETV -> YIVKL (in Ref. 4; BAB71532). {ECO:0000305}.		cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.T680T(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTGCTGAGACGGTCTTGGCCT	0.393																																						uc003jut.1																			1	Substitution - coding silent(1)		lung(1)	lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(1462-1464)ACG>ACT		microtubule associated serine/threonine kinase							150.0	149.0	149.0					5																	66427717		1872	4108	5980	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66427717G>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2031G>T	5.37:g.66427717G>T						MAST4_uc003juu.1_Silent_p.T498T|MAST4_uc011cra.1_Silent_p.T471T|MAST4_uc003juv.2_Silent_p.T483T|MAST4_uc003juw.2_Silent_p.T483T	p.T488T	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	15	1532	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	680	FAETV -> YIVKL (in Ref. 4; BAB71532).		Protein kinase.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.1464G>T	CCDS54861.1																																																																																				PASS	0.393	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			59	91	59	91	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70808128	70808128	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:70808128G>C	ENST00000358731.4	+	18	4383	c.4120G>C	c.(4120-4122)Gaa>Caa	p.E1374Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1374					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E1374Q(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGAAATTCTGAAAAAGAAGT	0.363																																						uc003kbp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(4120-4122)GAA>CAA		transcription factor-like nuclear regulator							87.0	87.0	87.0					5																	70808128		1813	4069	5882	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70808128G>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4120G>C	5.37:g.70808128G>C	ENSP00000351575:p.Glu1374Gln					BDP1_uc003kbo.2_Missense_Mutation_p.E1374Q	p.E1374Q	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	18	4383	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1374					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.4120G>C	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332589	0.41297	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.10099	2.91	4.64	1.68	0.24146	.	0.802935	0.10862	N	0.625993	T	0.22166	0.0534	L	0.60455	1.87	0.19945	N	0.999942	B;D	0.69078	0.244;0.997	B;D	0.63793	0.132;0.918	T	0.09684	-1.0663	10	0.54805	T	0.06	.	5.319	0.15872	0.1999:0.1693:0.6308:0.0	.	1374;1374	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	Q	1374;954	ENSP00000351575:E1374Q	ENSP00000351575:E1374Q	E	+	1	0	BDP1	70843884	0.996000	0.38824	0.030000	0.17652	0.061000	0.15899	1.928000	0.40104	0.509000	0.28195	-0.136000	0.14681	GAA		PASS	0.363	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		9	149	9	149	---	---	---	---
UTP15	84135	broad.mit.edu	37	5	72866451	72866451	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:72866451G>A	ENST00000296792.4	+	6	843	c.588G>A	c.(586-588)acG>acA	p.T196T	UTP15_ENST00000543251.1_Silent_p.T6T|UTP15_ENST00000508491.1_Silent_p.T177T	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	196					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.T196T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		ATGCACGAACGAGTGAGAGTG	0.398																																						uc003kcw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(586-588)ACG>ACA		UTP15, U3 small nucleolar ribonucleoprotein,							149.0	137.0	141.0					5																	72866451		2203	4300	6503	SO:0001819	synonymous_variant	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72866451G>A	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.588G>A	5.37:g.72866451G>A						UTP15_uc011cso.1_Silent_p.T177T|UTP15_uc011csp.1_Silent_p.T6T|UTP15_uc010ize.1_Silent_p.T196T	p.T196T	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	6	811	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	196			WD 4.		B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Silent	SNP	ENST00000296792.4	37	c.588G>A	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	G	5.243	0.230242	0.09969	.	.	ENSG00000164338	ENST00000509005	.	.	.	5.85	-6.67	0.01783	.	.	.	.	.	T	0.19287	0.0463	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32771	-0.9894	4	.	.	.	.	5.3149	0.15850	0.3183:0.4376:0.1657:0.0784	.	.	.	.	Q	223	.	.	R	+	2	0	UTP15	72902207	0.003000	0.15002	0.001000	0.08648	0.672000	0.39443	-0.321000	0.08018	-0.732000	0.04856	-0.302000	0.09304	CGA		PASS	0.398	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		23	126	23	126	---	---	---	---
DMGDH	29958	broad.mit.edu	37	5	78301117	78301117	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:78301117T>A	ENST00000255189.3	-	15	2392	c.2364A>T	c.(2362-2364)gaA>gaT	p.E788D		NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	788					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.E788D(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACCAGATGCTTTCATTTCCCT	0.493																																						uc003kfs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(2362-2364)GAA>GAT		dimethylglycine dehydrogenase precursor							166.0	125.0	139.0					5																	78301117		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78301117T>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2364A>T	5.37:g.78301117T>A	ENSP00000255189:p.Glu788Asp						p.E788D	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	15	2370	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	788					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.2364A>T	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438245	0.83885	.	.	ENSG00000132837	ENST00000255189	T	0.79141	-1.24	5.62	1.93	0.25924	Glycine cleavage T-protein, C-terminal barrel (1);	0.000000	0.85682	D	0.000000	T	0.81645	0.4866	L	0.49256	1.55	0.80722	D	1	D	0.60160	0.987	D	0.74023	0.982	T	0.79546	-0.1759	10	0.66056	D	0.02	.	8.3197	0.32121	0.0:0.2907:0.0:0.7093	.	788	Q9UI17	M2GD_HUMAN	D	788	ENSP00000255189:E788D	ENSP00000255189:E788D	E	-	3	2	DMGDH	78336873	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.715000	0.37971	0.399000	0.25367	0.460000	0.39030	GAA		PASS	0.493	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		14	19	14	19	---	---	---	---
ARRDC3	57561	broad.mit.edu	37	5	90678636	90678636	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:90678636C>T	ENST00000265138.3	-	1	540	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	92					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)	p.E92K(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TTACCTCTTTCGTGCCCAATT	0.368																																						uc003kjz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(274-276)GAA>AAA		arrestin domain containing 3							106.0	112.0	110.0					5																	90678636		2202	4300	6502	SO:0001583	missense	57561				signal transduction	cytoplasm	protein binding	g.chr5:90678636C>T	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.274G>A	5.37:g.90678636C>T	ENSP00000265138:p.Glu92Lys					LOC100129716_uc003kka.3_Intron	p.E92K	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	1	514	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	92					A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	c.274G>A	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768681	0.31320	.	.	ENSG00000113369	ENST00000265138	T	0.12672	2.66	5.16	5.16	0.70880	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.11623	0.0283	L	0.33485	1.01	0.80722	D	1	P	0.38110	0.618	B	0.31946	0.138	T	0.14062	-1.0486	10	0.24483	T	0.36	-18.1451	18.6281	0.91349	0.0:1.0:0.0:0.0	.	92	Q96B67	ARRD3_HUMAN	K	92	ENSP00000265138:E92K	ENSP00000265138:E92K	E	-	1	0	ARRDC3	90714392	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.881000	0.69706	2.393000	0.81446	0.561000	0.74099	GAA		PASS	0.368	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		15	281	15	281	---	---	---	---
GRAMD3	65983	broad.mit.edu	37	5	125822583	125822583	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:125822583C>T	ENST00000285689.3	+	12	1538	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	GRAMD3_ENST00000513040.1_Silent_p.I374I|GRAMD3_ENST00000542322.1_Silent_p.I367I|GRAMD3_ENST00000544396.1_Silent_p.I255I|GRAMD3_ENST00000511134.1_Silent_p.I343I|GRAMD3_ENST00000543198.1_Silent_p.I337I|GRAMD3_ENST00000502348.1_Silent_p.I250I|RP11-517I3.1_ENST00000512500.1_RNA|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000515200.1_Silent_p.I337I	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	359						cytoplasmic microtubule (GO:0005881)		p.I359I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		CACTAATCATCTCGACCTTCT	0.438																																						uc003ktu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1075-1077)ATC>ATT		GRAM domain containing 3 isoform 2							117.0	109.0	112.0					5																	125822583		2203	4300	6503	SO:0001819	synonymous_variant	65983							g.chr5:125822583C>T	BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"""HCV NS3 transactivated protein 2"""					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.1077C>T	5.37:g.125822583C>T						GRAMD3_uc011cwt.1_Silent_p.I374I|GRAMD3_uc011cwv.1_Silent_p.I367I|GRAMD3_uc011cww.1_Silent_p.I255I|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Silent_p.I250I|GRAMD3_uc011cwz.1_Silent_p.I343I	p.I359I	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	12	1507	+		Prostate(80;0.0928)	359					B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Silent	SNP	ENST00000285689.3	37	c.1077C>T	CCDS4136.1																																																																																				PASS	0.438	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927		8	41	8	41	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128990070	128990070	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:128990070G>T	ENST00000274487.4	+	14	2375	c.2230G>T	c.(2230-2232)Gat>Tat	p.D744Y	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	744	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D744Y(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAAGTGATGGATGGAACTTC	0.358																																						uc003kvb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(2230-2232)GAT>TAT		ADAM metallopeptidase with thrombospondin type 1							95.0	101.0	99.0					5																	128990070		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128990070G>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2230G>T	5.37:g.128990070G>T	ENSP00000274487:p.Asp744Tyr					ADAMTS19_uc010jdh.1_RNA	p.D744Y	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	14	2230	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	744			Cys-rich.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2230G>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181692	0.78677	.	.	ENSG00000145808	ENST00000274487	T	0.69685	-0.42	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000001	D	0.87684	0.6239	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91638	0.5324	9	.	.	.	.	18.11	0.89532	0.0:0.0:1.0:0.0	.	744	Q8TE59	ATS19_HUMAN	Y	744	ENSP00000274487:D744Y	.	D	+	1	0	ADAMTS19	129017969	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.702000	0.84576	2.692000	0.91855	0.655000	0.94253	GAT		PASS	0.358	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		14	123	14	123	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140175215	140175215	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:140175215C>T	ENST00000526136.1	+	1	666	c.666C>T	c.(664-666)ctC>ctT	p.L222L	PCDHA2_ENST00000378132.1_Silent_p.L222L|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.L222L|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	222	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L222L(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCTGAGCTCACGGGCACCG	0.428																																						uc003lhd.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(664-666)CTC>CTT		protocadherin alpha 2 isoform 1 precursor							81.0	90.0	87.0					5																	140175215		2203	4300	6503	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175215C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.666C>T	5.37:g.140175215C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.L222L|PCDHA2_uc011czy.1_Silent_p.L222L	p.L222L	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	772	+			222			Extracellular (Potential).|Cadherin 2.		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.666C>T	CCDS54914.1																																																																																				PASS	0.428	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		60	325	60	325	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140203604	140203604	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:140203604G>A	ENST00000529859.1	+	1	2244	c.2244G>A	c.(2242-2244)tcG>tcA	p.S748S	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S748S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.S748S|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	748					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S748S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGGTCGTACTCGCAGC	0.647																																						uc003lhl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(2242-2244)TCG>TCA		protocadherin alpha 5 isoform 1 precursor							72.0	65.0	67.0					5																	140203604		2203	4300	6503	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140203604G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2244G>A	5.37:g.140203604G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.S748S|PCDHA5_uc003lhj.1_Silent_p.S748S	p.S748S	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2244	+			748			Cytoplasmic (Potential).		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.2244G>A	CCDS54917.1																																																																																				PASS	0.647	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		64	71	64	71	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140203689	140203689	+	Nonsense_Mutation	SNP	C	C	T	rs141975967		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:140203689C>T	ENST00000529859.1	+	1	2329	c.2329C>T	c.(2329-2331)Cag>Tag	p.Q777*	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Nonsense_Mutation_p.Q777*|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Nonsense_Mutation_p.Q777*|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	777	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q777*(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCCTTCCTCAGGGTCCCAC	0.483																																						uc003lhl.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(2329-2331)CAG>TAG		protocadherin alpha 5 isoform 1 precursor							77.0	73.0	74.0					5																	140203689		2203	4300	6503	SO:0001587	stop_gained	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140203689C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2329C>T	5.37:g.140203689C>T	ENSP00000436557:p.Gln777*					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Nonsense_Mutation_p.Q777*|PCDHA5_uc003lhj.1_Nonsense_Mutation_p.Q777*	p.Q777*	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2329	+			777			Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.		O75284|Q8N4R3	Nonsense_Mutation	SNP	ENST00000529859.1	37	c.2329C>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504167	0.85176	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	11.2799	0.49188	0.0:0.9057:0.0:0.0943	.	.	.	.	X	777	.	ENSP00000367366:Q777X	Q	+	1	0	PCDHA5	140183873	.	.	0.958000	0.39756	0.292000	0.27327	.	.	1.961000	0.56991	0.491000	0.48974	CAG		PASS	0.483	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		6	144	6	144	---	---	---	---
SLC25A2	83884	broad.mit.edu	37	5	140682556	140682557	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:140682556_140682557TC>AG	ENST00000239451.4	-	1	1055_1056	c.876_877GA>CT	c.(874-879)aaGAtg>aaCTtg	p.292_293KM>NL		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	292					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.K292_M293>NL(1)|p.K292N(1)|p.M293L(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TTCATCATCATCTTCCTGCTGT	0.455																																						uc003ljf.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(1)	1						c.(877-879)ATG>TTG|c.(874-876)AAG>AAC		solute carrier family 25 member 2	L-Ornithine(DB00129)																																			SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140682556T>A|g.chr5:140682557C>G	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.876_877delinsAG	5.37:g.140682556_140682557delinsAG	ENSP00000239451:p.K292_M293delinsNL						p.M293L|p.K292N	NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	1057|1056	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	293|292			Solcar 3.		Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.877A>T|c.876G>C	CCDS4258.1																																																																																				PASS	0.455	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		21|20	105|107	20	105	---	---	---	---
KIAA0141	9812	broad.mit.edu	37	5	141309176	141309176	+	Missense_Mutation	SNP	G	G	A	rs201802656	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:141309176G>A	ENST00000432126.2	+	5	576	c.442G>A	c.(442-444)Gat>Aat	p.D148N	KIAA0141_ENST00000194118.4_Missense_Mutation_p.D148N	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	148					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)		p.D148N(1)		endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCAGCCCCGATGGCCCAGC	0.602													G|||	4	0.000798722	0.0	0.0	5008	,	,		18012	0.004		0.0	False		,,,				2504	0.0					uc003lls.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(442-444)GAT>AAT		hypothetical protein LOC9812 precursor							68.0	70.0	69.0					5																	141309176		2203	4300	6503	SO:0001583	missense	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141309176G>A	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.442G>A	5.37:g.141309176G>A	ENSP00000396225:p.Asp148Asn					KIAA0141_uc003llt.2_Missense_Mutation_p.D148N	p.D148N	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	564	+		all_hematologic(541;0.118)	148					Q969R4|Q96EU9	Missense_Mutation	SNP	ENST00000432126.2	37	c.442G>A	CCDS4268.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.777	0.144519	0.09134	.	.	ENSG00000081791	ENST00000432126;ENST00000194118;ENST00000508751	T;T;T	0.18016	2.73;2.73;2.24	4.51	1.61	0.23674	.	0.809480	0.10970	N	0.614006	T	0.15696	0.0378	L	0.56769	1.78	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.27502	-1.0072	10	0.49607	T	0.09	-1.8876	3.973	0.09462	0.218:0.201:0.581:0.0	.	148	Q14154	DELE_HUMAN	N	148	ENSP00000396225:D148N;ENSP00000194118:D148N;ENSP00000422686:D148N	ENSP00000194118:D148N	D	+	1	0	KIAA0141	141289360	0.009000	0.17119	0.163000	0.22734	0.203000	0.24098	0.740000	0.26188	0.579000	0.29504	0.305000	0.20034	GAT		PASS	0.602	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2	NM_014773		27	179	27	179	---	---	---	---
LARS	51520	broad.mit.edu	37	5	145537059	145537059	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:145537059G>A	ENST00000394434.2	-	10	1138	c.972C>T	c.(970-972)ttC>ttT	p.F324F	LARS_ENST00000274562.9_Silent_p.F297F|LARS_ENST00000545646.1_Silent_p.F278F|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000510191.1_Silent_p.F270F	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	324	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.F324F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GGGTACAGATGAATATATCAC	0.443																																						uc003lnx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(970-972)TTC>TTT		leucyl-tRNA synthetase	L-Leucine(DB00149)						121.0	108.0	112.0					5																	145537059		2203	4300	6503	SO:0001819	synonymous_variant	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145537059G>A	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.972C>T	5.37:g.145537059G>A						LARS_uc011dbq.1_Silent_p.F278F|LARS_uc011dbr.1_Silent_p.F270F|LARS_uc011dbs.1_Silent_p.F297F	p.F324F	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1210	-			324			Editing domain.		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Silent	SNP	ENST00000394434.2	37	c.972C>T	CCDS34265.1																																																																																				PASS	0.443	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117		25	103	25	103	---	---	---	---
ABLIM3	22885	broad.mit.edu	37	5	148617026	148617026	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:148617026G>A	ENST00000506113.1	+	10	1386	c.904G>A	c.(904-906)Gag>Aag	p.E302K	ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.E302K|ABLIM3_ENST00000309868.7_Missense_Mutation_p.E302K|ABLIM3_ENST00000519549.1_3'UTR|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	302					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.E302K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGATAATGAGATCCTTAA	0.443																																						uc003lpy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(904-906)GAG>AAG		actin binding LIM protein family, member 3							99.0	106.0	103.0					5																	148617026		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148617026G>A	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.904G>A	5.37:g.148617026G>A	ENSP00000425394:p.Glu302Lys					ABLIM3_uc003lpz.1_Missense_Mutation_p.E302K|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.2_Intron|ABLIM3_uc003lqc.1_Missense_Mutation_p.E302K|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqf.2_Intron|ABLIM3_uc003lqe.1_Intron	p.E302K	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1155	+			302					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.904G>A	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252719	0.80135	.	.	ENSG00000173210	ENST00000309868;ENST00000506113;ENST00000508983	T;T;T	0.53423	0.62;0.62;0.62	5.79	5.79	0.91817	.	0.052723	0.85682	D	0.000000	T	0.50769	0.1635	M	0.72479	2.2	0.80722	D	1	B	0.33103	0.397	B	0.34138	0.176	T	0.49969	-0.8882	10	0.41790	T	0.15	.	16.293	0.82759	0.0:0.1321:0.8679:0.0	.	302	O94929	ABLM3_HUMAN	K	302	ENSP00000310309:E302K;ENSP00000425394:E302K;ENSP00000420855:E302K	ENSP00000310309:E302K	E	+	1	0	ABLIM3	148597219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.548000	0.67255	2.746000	0.94184	0.655000	0.94253	GAG		PASS	0.443	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		16	239	16	239	---	---	---	---
SGCD	6444	broad.mit.edu	37	5	156022011	156022011	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:156022011C>G	ENST00000435422.3	+	5	936	c.449C>G	c.(448-450)tCt>tGt	p.S150C	SGCD_ENST00000337851.4_Missense_Mutation_p.S151C|SGCD_ENST00000447401.1_Missense_Mutation_p.S151C|SGCD_ENST00000517913.1_Missense_Mutation_p.S151C	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	150			S -> A (in CMD1L). {ECO:0000269|PubMed:10974018}.		muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.S151C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCTCTTCTCTGCAGACAAT	0.353																																						uc003lwd.3																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)TCT>TGT		delta-sarcoglycan isoform 3							79.0	73.0	75.0					5																	156022011		1816	4079	5895	SO:0001583	missense	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156022011C>G	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.449C>G	5.37:g.156022011C>G	ENSP00000403003:p.Ser150Cys					SGCD_uc003lwa.1_Missense_Mutation_p.S151C|SGCD_uc003lwb.2_Missense_Mutation_p.S151C|SGCD_uc003lwc.3_Missense_Mutation_p.S151C	p.S150C	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	925	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	150		S -> A (in CMD1L).	Extracellular (Potential).		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.449C>G	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438403	0.83885	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97551	0.9198	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;P;D	0.85130	0.937;0.896;0.997	D	0.97649	1.0153	10	0.59425	D	0.04	-12.9832	19.7417	0.96234	0.0:1.0:0.0:0.0	.	150;151;151	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	C	151;150;151;151	ENSP00000429378:S151C;ENSP00000403003:S150C;ENSP00000338343:S151C;ENSP00000408324:S151C	ENSP00000338343:S151C	S	+	2	0	SGCD	155954589	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.795000	0.69074	2.657000	0.90304	0.650000	0.86243	TCT		PASS	0.353	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			7	36	7	36	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160061440	160061440	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:160061440C>G	ENST00000327245.5	-	12	2148	c.1302G>C	c.(1300-1302)aaG>aaC	p.K434N	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	434					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.K434N(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGTCCCCGTCTTATCGGAGA	0.498																																						uc003lym.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1300-1302)AAG>AAC		ATPase, class V, type 10B							143.0	141.0	142.0					5																	160061440		1984	4166	6150	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160061440C>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1302G>C	5.37:g.160061440C>G	ENSP00000313600:p.Lys434Asn					ATP10B_uc003lyp.2_Missense_Mutation_p.K434N|ATP10B_uc011deg.1_Missense_Mutation_p.K478N|ATP10B_uc003lyn.2_5'UTR|ATP10B_uc003lyo.2_Missense_Mutation_p.K406N	p.K434N	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	2149	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	434			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1302G>C	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.579001	0.65878	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.71222	-0.55;-0.55	5.53	3.73	0.42828	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.81945	0.4930	M	0.84846	2.72	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.82139	-0.0605	9	.	.	.	.	6.1054	0.20071	0.0:0.7165:0.0:0.2835	.	478;434;406;434	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	N	434;42	ENSP00000313600:K434N;ENSP00000431081:K42N	.	K	-	3	2	ATP10B	159994018	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	0.782000	0.26788	2.605000	0.88082	0.655000	0.94253	AAG		PASS	0.498	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		68	205	68	205	---	---	---	---
KCNMB1	3779	broad.mit.edu	37	5	169805782	169805782	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:169805782G>T	ENST00000274629.4	-	4	944	c.502C>A	c.(502-504)Ctg>Atg	p.L168M	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	168					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.L168M(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	CCACCGGTCAGCAGGAAGGTG	0.607																																						uc003maq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(502-504)CTG>ATG		potassium large conductance calcium-activated							81.0	81.0	81.0					5																	169805782		2203	4300	6503	SO:0001583	missense	3779				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169805782G>T	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.502C>A	5.37:g.169805782G>T	ENSP00000274629:p.Leu168Met					KCNIP1_uc003map.2_Intron	p.L168M	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	4	902	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	168			Helical; Name=2; (Potential).		O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	c.502C>A	CCDS4373.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679030	0.47886	.	.	ENSG00000145936	ENST00000274629	T	0.17054	2.3	5.3	3.52	0.40303	.	0.082216	0.49305	D	0.000160	T	0.30008	0.0751	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.04373	-1.0956	9	.	.	.	.	4.3736	0.11260	0.1838:0.0:0.636:0.1802	.	168	Q16558	KCMB1_HUMAN	M	168	ENSP00000274629:L168M	.	L	-	1	2	KCNMB1	169738360	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.081000	0.30791	1.224000	0.43551	0.585000	0.79938	CTG		PASS	0.607	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			76	115	76	115	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176637166	176637166	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr5:176637166C>G	ENST00000439151.2	+	5	1811	c.1766C>G	c.(1765-1767)tCt>tGt	p.S589C	NSD1_ENST00000347982.4_Missense_Mutation_p.S320C|NSD1_ENST00000361032.4_Missense_Mutation_p.S486C|NSD1_ENST00000354179.4_Missense_Mutation_p.S320C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	589					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S589C(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATGGTGACTCTTTATTGGGC	0.448			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)	3						c.(1765-1767)TCT>TGT		nuclear receptor binding SET domain protein 1							67.0	72.0	70.0					5																	176637166		2200	4300	6500	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637166C>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1766C>G	5.37:g.176637166C>G	ENSP00000395929:p.Ser589Cys	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.S320C|NSD1_uc003mfs.1_Missense_Mutation_p.S486C|NSD1_uc011dfx.1_Missense_Mutation_p.S237C	p.S589C	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	1904	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	589					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.1766C>G	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038554	0.35989	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94537	-3.36;-3.37;-3.36;-3.45	5.33	5.33	0.75918	.	0.302249	0.29185	N	0.012895	D	0.93304	0.7866	N	0.24115	0.695	0.22479	N	0.999067	D;D;P	0.65815	0.982;0.995;0.927	P;P;P	0.58873	0.694;0.847;0.498	D	0.87142	0.2203	9	.	.	.	.	13.7465	0.62879	0.0:0.8461:0.1539:0.0	.	320;486;589	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	C	320;320;589;320;486	ENSP00000346111:S320C;ENSP00000395929:S589C;ENSP00000343209:S320C;ENSP00000354310:S486C	.	S	+	2	0	NSD1	176569772	0.999000	0.42202	0.998000	0.56505	0.307000	0.27823	1.736000	0.38187	2.648000	0.89879	0.591000	0.81541	TCT		PASS	0.448	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		12	177	12	177	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13283796	13283796	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:13283796T>A	ENST00000379329.1	+	3	364	c.344T>A	c.(343-345)gTa>gAa	p.V115E	PHACTR1_ENST00000379335.3_Splice_Site|RP1-257A7.4_ENST00000399446.2_RNA|PHACTR1_ENST00000457702.2_Splice_Site|PHACTR1_ENST00000332995.7_Splice_Site|RP1-257A7.4_ENST00000606150.1_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	551					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)	p.?(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCAGACAAAGTAAGCAGAGGG	0.637																																						uc010jpc.2																			2	Unknown(2)		lung(2)		0						c.e13+2		phosphatase and actin regulator 1							58.0	64.0	62.0					6																	13283796		2025	4185	6210	SO:0001583	missense	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13283796T>A	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379329.1:c.344T>A	6.37:g.13283796T>A	ENSP00000368633:p.Val115Glu					PHACTR1_uc003nah.1_Splice_Site_p.K550_splice|TBC1D7_uc003naj.2_Intron|TBC1D7_uc011dis.1_Intron|uc003nak.1_Intron	p.K550_splice	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		13	1982	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)						A8K1V2|Q3MJ93|Q5JSJ2	Splice_Site	SNP	ENST00000379329.1	37	c.1650_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.1|22.1	4.237815|4.237815	0.79800|0.79800	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000332995;ENST00000457702;ENST00000415087;ENST00000379335|ENST00000379329	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63510	.|0.2517	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64232	.|-0.6456	.|4	.|.	.|.	.|.	.|.	15.0665|15.0665	0.71999|0.71999	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|E	-1|115	.|.	.|.	.|V	+|+	.|2	.|0	PHACTR1|PHACTR1	13391775|13391775	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.863000|0.863000	0.49368|0.49368	6.294000|6.294000	0.72738|0.72738	2.156000|2.156000	0.67533|0.67533	0.533000|0.533000	0.62120|0.62120	.|GTA		PASS	0.637	PHACTR1-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000039879.1	XM_166420		30	159	30	159	---	---	---	---
MYLIP	29116	broad.mit.edu	37	6	16145463	16145463	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:16145463T>C	ENST00000356840.3	+	6	1361	c.1163T>C	c.(1162-1164)aTg>aCg	p.M388T	MYLIP_ENST00000349606.4_Missense_Mutation_p.M207T	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	388					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.M388T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ATGCTGTGCATGGTGTGCTGC	0.612																																						uc003nbq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1162-1164)ATG>ACG		myosin regulatory light chain interacting							101.0	89.0	93.0					6																	16145463		2203	4300	6503	SO:0001583	missense	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16145463T>C	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1163T>C	6.37:g.16145463T>C	ENSP00000349298:p.Met388Thr					MYLIP_uc003nbr.2_Missense_Mutation_p.M207T	p.M388T	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		6	1400	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	388			RING-type.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	c.1163T>C	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.971684	0.34754	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	T;T	0.78246	-1.16;-1.16	5.63	4.44	0.53790	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.068387	0.85682	D	0.000000	T	0.43456	0.1248	N	0.05078	-0.115	0.54753	D	0.999988	B	0.19073	0.033	B	0.22880	0.042	T	0.41016	-0.9532	10	0.41790	T	0.15	.	13.0052	0.58701	0.0:0.0:0.1347:0.8653	.	388	Q8WY64	MYLIP_HUMAN	T	388;207	ENSP00000349298:M388T;ENSP00000008686:M207T	ENSP00000008686:M207T	M	+	2	0	MYLIP	16253442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.947000	0.63583	1.035000	0.39972	0.533000	0.62120	ATG		PASS	0.612	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		62	328	62	328	---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17626107	17626107	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:17626107C>G	ENST00000262077.2	-	19	3832	c.3833G>C	c.(3832-3834)gGa>gCa	p.G1278A	NUP153_ENST00000537253.1_Missense_Mutation_p.G1309A	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1278					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.G1278A(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ACTGCTGGCTCCTGGACCAAA	0.443																																						uc003ncd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(3832-3834)GGA>GCA		nucleoporin 153kDa							103.0	92.0	96.0					6																	17626107		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17626107C>G	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3833G>C	6.37:g.17626107C>G	ENSP00000262077:p.Gly1278Ala					NUP153_uc011dje.1_Missense_Mutation_p.G1309A|NUP153_uc010jpl.1_Missense_Mutation_p.G1236A	p.G1278A	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		19	4033	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	1278					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.3833G>C	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	9.568	1.120249	0.20877	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.07688	3.18;3.17	5.87	5.87	0.94306	.	0.000000	0.45867	D	0.000340	T	0.04137	0.0115	M	0.68317	2.08	0.45390	D	0.998375	P;B;B	0.36315	0.547;0.412;0.355	B;B;B	0.37267	0.245;0.124;0.092	T	0.11591	-1.0581	10	0.08179	T	0.78	-12.3973	9.8902	0.41285	0.0:0.788:0.1402:0.0718	.	1309;1258;1278	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	A	1278;1258;1309	ENSP00000262077:G1278A;ENSP00000444029:G1309A	ENSP00000262077:G1278A	G	-	2	0	NUP153	17734086	0.999000	0.42202	0.996000	0.52242	0.990000	0.78478	2.724000	0.47285	2.785000	0.95823	0.655000	0.94253	GGA		PASS	0.443	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			20	104	20	104	---	---	---	---
PRL	5617	broad.mit.edu	37	6	22287673	22287673	+	Silent	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:22287673G>C	ENST00000306482.1	-	5	1160	c.642C>G	c.(640-642)ctC>ctG	p.L214L	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	214					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)	p.L214L(2)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TCAGGAGCTTGAGATAATTGT	0.448																																						uc003ndp.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)		0						c.(640-642)CTC>CTG		prolactin precursor							278.0	245.0	256.0					6																	22287673		2203	4300	6503	SO:0001819	synonymous_variant	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22287673G>C	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.642C>G	6.37:g.22287673G>C						PRL_uc003ndo.2_Silent_p.L215L|PRL_uc003ndq.2_Silent_p.L214L	p.L214L	NM_000948	NP_000939	P01236	PRL_HUMAN			5	1161	-	Ovarian(93;0.163)		214					Q15199|Q92996	Silent	SNP	ENST00000306482.1	37	c.642C>G	CCDS4548.1																																																																																				PASS	0.448	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948		40	393	40	393	---	---	---	---
LRRC16A	55604	broad.mit.edu	37	6	25509902	25509902	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:25509902C>G	ENST00000329474.6	+	18	1782	c.1414C>G	c.(1414-1416)Caa>Gaa	p.Q472E		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	472					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.Q472E(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGGAGGTGCTCAAGTATTAGA	0.353																																						uc011djw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(1414-1416)CAA>GAA		leucine rich repeat containing 16A							86.0	75.0	78.0					6																	25509902		1883	4114	5997	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25509902C>G	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1414C>G	6.37:g.25509902C>G	ENSP00000331983:p.Gln472Glu					LRRC16A_uc010jpx.2_Missense_Mutation_p.Q472E|LRRC16A_uc010jpy.2_Missense_Mutation_p.Q472E	p.Q472E	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			18	1790	+			472					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.1414C>G	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375812	0.82682	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.51817	0.69	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	L	0.40543	1.245	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.996	D;P;D	0.77557	0.986;0.907;0.99	T	0.49341	-0.8950	10	0.38643	T	0.18	.	18.6162	0.91303	0.0:1.0:0.0:0.0	.	472;472;472	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	E	472	ENSP00000331983:Q472E	ENSP00000331983:Q472E	Q	+	1	0	LRRC16A	25617881	1.000000	0.71417	0.973000	0.42090	0.993000	0.82548	7.234000	0.78134	2.456000	0.83038	0.591000	0.81541	CAA		PASS	0.353	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		7	18	7	18	---	---	---	---
HIST1H1C	3006	broad.mit.edu	37	6	26056117	26056117	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:26056117C>T	ENST00000343677.2	-	1	582	c.540G>A	c.(538-540)gcG>gcA	p.A180A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	180					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A180A(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGGGCTTCGCAACCTTGG	0.542																																						uc003nfw.2																			2	Substitution - coding silent(2)		NS(1)|lung(1)	ovary(3)|skin(2)	5						c.(538-540)GCG>GCA		histone cluster 1, H1c							97.0	106.0	103.0					6																	26056117		2203	4300	6503	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056117C>T	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.540G>A	6.37:g.26056117C>T							p.A180A	NM_005319	NP_005310	P16403	H12_HUMAN			1	583	-			180					A8K4I2	Silent	SNP	ENST00000343677.2	37	c.540G>A	CCDS4577.1																																																																																				PASS	0.542	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		18	476	18	476	---	---	---	---
HIST1H2BD	3017	broad.mit.edu	37	6	26158626	26158626	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:26158626G>C	ENST00000289316.2	+	1	253	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.E77Q	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	77					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E77K(2)|p.E77Q(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CATCGCAGGCGAGGCTTCCCG	0.612																																						uc003ngr.2																			3	Substitution - Missense(3)		cervix(1)|lung(1)|breast(1)	ovary(1)|pancreas(1)	2						c.(229-231)GAG>CAG		histone cluster 1, H2bd							141.0	138.0	139.0					6																	26158626		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158626G>C	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.229G>C	6.37:g.26158626G>C	ENSP00000289316:p.Glu77Gln					HIST1H2BD_uc003ngs.2_Missense_Mutation_p.E77Q	p.E77Q	NM_021063	NP_066407	P58876	H2B1D_HUMAN			1	278	+			77						Missense_Mutation	SNP	ENST00000289316.2	37	c.229G>C	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	17.97	3.517666	0.64634	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.36340	1.26;1.26	4.88	4.88	0.63580	Histone-fold (2);Histone core (1);	0.000000	0.42053	D	0.000772	T	0.62011	0.2393	H	0.98089	4.145	0.33785	D	0.624739	D	0.63880	0.993	P	0.62014	0.897	T	0.74833	-0.3530	10	0.87932	D	0	.	8.8585	0.35242	0.0815:0.0:0.7663:0.1522	.	77	P58876	H2B1D_HUMAN	Q	77	ENSP00000367008:E77Q;ENSP00000289316:E77Q	ENSP00000289316:E77Q	E	+	1	0	HIST1H2BD	26266605	1.000000	0.71417	0.972000	0.41901	0.251000	0.25915	5.677000	0.68142	2.657000	0.90304	0.650000	0.86243	GAG		PASS	0.612	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		99	460	99	460	---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26390390	26390390	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:26390390G>C	ENST00000356709.4	+	5	993	c.882G>C	c.(880-882)aaG>aaC	p.K294N	BTN2A2_ENST00000482536.1_Missense_Mutation_p.K84N|BTN2A2_ENST00000352867.2_Missense_Mutation_p.K178N|BTN2A2_ENST00000469230.1_Missense_Mutation_p.K294N|BTN2A2_ENST00000432533.2_Missense_Mutation_p.K200N|BTN2A2_ENST00000416795.2_Missense_Mutation_p.K294N	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	294					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.K200N(1)|p.K294N(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GGGAAAAAAAGATTCTGTCAG	0.378																																						uc003nhq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(880-882)AAG>AAC		butyrophilin, subfamily 2, member A2 isoform a							68.0	69.0	68.0					6																	26390390		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26390390G>C	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.882G>C	6.37:g.26390390G>C	ENSP00000349143:p.Lys294Asn					BTN2A2_uc011dkf.1_Missense_Mutation_p.K178N|BTN2A2_uc011dkg.1_Missense_Mutation_p.K200N|BTN2A2_uc003nhr.2_Missense_Mutation_p.K178N|BTN2A2_uc011dkh.1_Missense_Mutation_p.K84N|BTN2A2_uc003nhs.2_Missense_Mutation_p.K294N|BTN2A2_uc003nht.2_Missense_Mutation_p.K294N|BTN2A2_uc011dki.1_Missense_Mutation_p.K43N	p.K294N	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN			5	968	+			294			Potential.|Cytoplasmic (Potential).		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.882G>C	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.583342	0.28268	.	.	ENSG00000124508	ENST00000469230;ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000432533;ENST00000416795;ENST00000483410;ENST00000495632	T;T;T;T;T;D;T;T	0.89810	3.98;0.43;1.26;0.88;0.43;-2.57;1.26;4.33	3.51	1.32	0.21799	.	1.144530	0.06662	N	0.764592	T	0.75568	0.3867	L	0.45470	1.425	0.09310	N	1	P;P;P;B;P;P;B	0.48911	0.835;0.835;0.675;0.397;0.835;0.917;0.437	B;B;B;B;P;P;B	0.45138	0.368;0.346;0.055;0.147;0.471;0.451;0.09	T	0.63924	-0.6527	10	0.20519	T	0.43	.	7.1153	0.25412	0.0:0.0:0.5148:0.4852	.	84;84;200;178;294;178;294	B4DE97;E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;.;.;.;BT2A2_HUMAN	N	294;89;294;178;84;200;294;178;20	ENSP00000417472:K294N;ENSP00000418965:K89N;ENSP00000349143:K294N;ENSP00000337117:K178N;ENSP00000419451:K84N;ENSP00000394241:K200N;ENSP00000399308:K294N;ENSP00000418176:K178N	ENSP00000337117:K178N	K	+	3	2	BTN2A2	26498369	0.010000	0.17322	0.001000	0.08648	0.089000	0.18198	1.255000	0.32909	0.361000	0.24292	0.467000	0.42956	AAG		PASS	0.378	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			11	157	11	157	---	---	---	---
ZNF165	7718	broad.mit.edu	37	6	28056492	28056492	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:28056492G>A	ENST00000377325.1	+	4	1258	c.702G>A	c.(700-702)aaG>aaA	p.K234K	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	234					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K234K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCAGGGTAAAGAGACAATGGG	0.428																																						uc003nkg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(700-702)AAG>AAA		zinc finger protein 165							102.0	113.0	109.0					6																	28056492		2203	4300	6503	SO:0001819	synonymous_variant	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056492G>A	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.702G>A	6.37:g.28056492G>A						ZNF165_uc003nkh.2_Silent_p.K234K|ZNF165_uc003nki.3_Silent_p.K234K|ZSCAN12P1_uc003nkj.3_5'Flank	p.K234K	NM_003447	NP_003438	P49910	ZN165_HUMAN			5	1786	+			234						Silent	SNP	ENST00000377325.1	37	c.702G>A	CCDS4643.1																																																																																				PASS	0.428	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		57	236	57	236	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32017311	32017311	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:32017311C>T	ENST00000375244.3	-	28	9694	c.9493G>A	c.(9493-9495)Gag>Aag	p.E3165K	TNXB_ENST00000375247.2_Missense_Mutation_p.E3163K			P22105	TENX_HUMAN	tenascin XB	3210	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.E3230K(1)|p.E3165K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCGGCTCCTCAGGGGCCTCC	0.657																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(9487-9489)GAG>AAG		tenascin XB isoform 1 precursor							42.0	46.0	45.0					6																	32017311		1162	2497	3659	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017311C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9493G>A	6.37:g.32017311C>T	ENSP00000364393:p.Glu3165Lys					TNXB_uc003nzh.1_5'Flank	p.E3163K	NM_019105	NP_061978	P22105	TENX_HUMAN			28	9689	-			3210					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.9487G>A		.	.	.	.	.	.	.	.	.	.	C	10.00	1.233301	0.22626	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56776	0.62;0.44	3.87	2.08	0.27032	.	0.140514	0.32687	N	0.005762	T	0.24236	0.0587	M	0.80028	2.48	0.09310	N	1	B	0.18310	0.027	B	0.18263	0.021	T	0.39272	-0.9622	10	0.07482	T	0.82	.	7.3579	0.26729	0.0:0.7891:0.0:0.2109	.	3163	P22105-3	.	K	3165;3163	ENSP00000364393:E3165K;ENSP00000364396:E3163K	ENSP00000364393:E3165K	E	-	1	0	TNXB	32125289	0.000000	0.05858	0.447000	0.26932	0.501000	0.33797	-0.032000	0.12266	0.325000	0.23359	0.306000	0.20318	GAG		PASS	0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		25	72	25	72	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32185863	32185863	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:32185863C>T	ENST00000375023.3	-	9	1671	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	511	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.E511E(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGGTCTCCACCTCACAGAGCT	0.607																																						uc003obb.2																			1	Substitution - coding silent(1)		lung(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(1531-1533)GAG>GAA		notch4 preproprotein							123.0	81.0	95.0					6																	32185863		2203	4300	6503	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32185863C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1533G>A	6.37:g.32185863C>T						NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Silent_p.E511E	p.E511E	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			9	1672	-			511			EGF-like 12; calcium-binding (Potential).|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.1533G>A	CCDS34420.1																																																																																				PASS	0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			9	96	9	96	---	---	---	---
IP6K3	117283	broad.mit.edu	37	6	33694658	33694658	+	Missense_Mutation	SNP	C	C	T	rs145429872		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:33694658C>T	ENST00000293756.4	-	4	765	c.439G>A	c.(439-441)Gag>Aag	p.E147K	IP6K3_ENST00000451316.1_Missense_Mutation_p.E147K	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	147					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.E147K(1)		skin(1)	1						AGGTGGGGCTCGGACCTCAGA	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18011	0.0		0.0	False		,,,				2504	0.0					uc010jvf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)GAG>AAG		inositol hexakisphosphate kinase 3		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	74.0	73.0	74.0		439,439	4.1	1.0	6	dbSNP_134	74	0,8600		0,0,4300	no	missense,missense	IP6K3	NM_001142883.1,NM_054111.4	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	147/411,147/411	33694658	1,13005	2203	4300	6503	SO:0001583	missense	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33694658C>T	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.439G>A	6.37:g.33694658C>T	ENSP00000293756:p.Glu147Lys					IP6K3_uc003ofb.2_Missense_Mutation_p.E147K	p.E147K	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN			5	975	-			147					Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	c.439G>A	CCDS34435.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.240	1.038161	0.19669	2.27E-4	0.0	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.62788	-0.0;-0.0	4.95	4.07	0.47477	.	0.604497	0.16435	N	0.214554	T	0.35941	0.0949	M	0.65975	2.015	0.25055	N	0.991101	P	0.36483	0.555	B	0.24974	0.057	T	0.14062	-1.0486	10	0.22109	T	0.4	-14.8991	13.6301	0.62189	0.0:0.8447:0.1553:0.0	.	147	Q96PC2	IP6K3_HUMAN	K	147	ENSP00000398861:E147K;ENSP00000293756:E147K	ENSP00000293756:E147K	E	-	1	0	IP6K3	33802636	0.987000	0.35691	0.983000	0.44433	0.012000	0.07955	3.078000	0.50096	1.076000	0.40961	-0.305000	0.09177	GAG		PASS	0.647	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111		43	251	43	251	---	---	---	---
BRPF3	27154	broad.mit.edu	37	6	36193102	36193102	+	Silent	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:36193102G>C	ENST00000357641.6	+	11	3493	c.3240G>C	c.(3238-3240)gtG>gtC	p.V1080V	BRPF3_ENST00000339717.7_Silent_p.V810V|BRPF3_ENST00000534400.1_Intron|BRPF3_ENST00000443324.2_Silent_p.V746V|BRPF3_ENST00000543502.1_Silent_p.V810V|BRPF3_ENST00000534694.1_Silent_p.V746V	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1080	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.V1080V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGGAGCTGGTGTGGGCCAAGT	0.652																																						uc003olv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(3238-3240)GTG>GTC		bromodomain and PHD finger containing, 3							61.0	61.0	61.0					6																	36193102		2203	4300	6503	SO:0001819	synonymous_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36193102G>C	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3240G>C	6.37:g.36193102G>C						BRPF3_uc010jwb.2_Silent_p.V810V|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_Intron|BRPF3_uc011dtk.1_Silent_p.V746V|BRPF3_uc010jwd.2_5'UTR	p.V1080V	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			11	3464	+			1080			PWWP.		A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	ENST00000357641.6	37	c.3240G>C	CCDS34437.1																																																																																				PASS	0.652	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		25	149	25	149	---	---	---	---
NFKBIE	4794	broad.mit.edu	37	6	44228205	44228205	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:44228205C>T	ENST00000275015.5	-	4	1179	c.1180G>A	c.(1180-1182)Gct>Act	p.A394T	SLC35B2_ENST00000538577.1_5'Flank|SLC35B2_ENST00000393812.3_5'Flank|SLC35B2_ENST00000537814.1_5'Flank|SLC35B2_ENST00000393810.1_5'Flank|SLC35B2_ENST00000495706.1_5'Flank	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	394					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)		p.A394T(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCAATGTCAGCTCCATTCCGA	0.592																																						uc003oxe.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1180-1182)GCT>ACT		nuclear factor of kappa light polypeptide gene							171.0	159.0	163.0					6																	44228205		2203	4300	6503	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44228205C>T	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.1180G>A	6.37:g.44228205C>T	ENSP00000275015:p.Ala394Thr					SLC35B2_uc003oxd.2_5'Flank|SLC35B2_uc011dvt.1_5'Flank|SLC35B2_uc011dvu.1_5'Flank	p.A394T	NM_004556	NP_004547	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1205	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		394			ANK 4.		Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.1180G>A	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273405	0.59649	.	.	ENSG00000146232	ENST00000275015	T	0.47869	0.83	5.05	5.05	0.67936	Ankyrin repeat-containing domain (3);	0.135310	0.48767	D	0.000173	T	0.50650	0.1628	M	0.90145	3.09	0.39876	D	0.973577	P	0.37061	0.58	B	0.41723	0.365	T	0.63959	-0.6519	10	0.87932	D	0	-24.8241	13.1619	0.59548	0.0:0.8397:0.1602:0.0	.	394	O00221	IKBE_HUMAN	T	394	ENSP00000275015:A394T	ENSP00000275015:A394T	A	-	1	0	NFKBIE	44336183	1.000000	0.71417	0.999000	0.59377	0.782000	0.44232	5.921000	0.70028	2.336000	0.79503	0.655000	0.94253	GCT		PASS	0.592	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2			56	113	56	113	---	---	---	---
CLIC5	53405	broad.mit.edu	37	6	45882036	45882036	+	Missense_Mutation	SNP	G	G	T	rs185489229		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:45882036G>T	ENST00000185206.6	-	5	1146	c.994C>A	c.(994-996)Cgc>Agc	p.R332S	CLIC5_ENST00000339561.6_Missense_Mutation_p.R173S|CLIC5_ENST00000486570.1_5'UTR|CLIC5_ENST00000544153.1_Missense_Mutation_p.R173S	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	332	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)	p.R332S(1)|p.R173S(1)|p.R332C(1)|p.R173C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AGGAACTTGCGCCGGGACCCC	0.557																																						uc003oxv.3																			4	Substitution - Missense(4)		lung(2)|kidney(2)	ovary(1)|skin(1)	2						c.(994-996)CGC>AGC		chloride intracellular channel 5 isoform a							122.0	120.0	121.0					6																	45882036		2203	4300	6503	SO:0001583	missense	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45882036G>T	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.994C>A	6.37:g.45882036G>T	ENSP00000185206:p.Arg332Ser					CLIC5_uc003oxu.3_Missense_Mutation_p.R173S|CLIC5_uc003oxw.2_RNA|CLIC5_uc003oxx.2_Missense_Mutation_p.R173S	p.R332S	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN			5	1100	-			332			GST C-terminal.		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	ENST00000185206.6	37	c.994C>A	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653967	0.88056	.	.	ENSG00000112782	ENST00000185206;ENST00000339561;ENST00000544153	D;D;D	0.94046	-3.34;-3.34;-3.34	5.84	4.97	0.65823	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.099058	0.64402	D	0.000002	D	0.96355	0.8811	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.986;0.986;0.997	D	0.96963	0.9703	10	0.66056	D	0.02	.	16.7792	0.85559	0.0:0.0:0.87:0.13	.	173;332;173	Q8NBY3;Q9NZA1;Q53G01	.;CLIC5_HUMAN;.	S	332;173;173	ENSP00000185206:R332S;ENSP00000344165:R173S;ENSP00000439195:R173S	ENSP00000185206:R332S	R	-	1	0	CLIC5	45990014	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.672000	0.74477	1.611000	0.50210	-0.175000	0.13238	CGC		PASS	0.557	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			43	142	43	142	---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50712946	50712946	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:50712946T>A	ENST00000008391.3	+	6	1238	c.1010T>A	c.(1009-1011)aTg>aAg	p.M337K	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.M337K(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGAAAAAAGATGATCCTGGCG	0.393																																						uc003paf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(1)	7						c.(1009-1011)ATG>AAG		transcription factor AP-2 beta-like 1							124.0	120.0	121.0					6																	50712946		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50712946T>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1010T>A	6.37:g.50712946T>A	ENSP00000008391:p.Met337Lys					TFAP2D_uc011dwt.1_RNA	p.M337K	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			6	1522	+	Lung NSC(77;0.0334)		337			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000008391.3	37	c.1010T>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	T	18.90	3.720781	0.68959	.	.	ENSG00000008197	ENST00000008391	D	0.97232	-4.3	5.77	5.77	0.91146	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95840	0.8646	M	0.68728	2.09	0.80722	D	1	B	0.28400	0.21	B	0.37989	0.262	D	0.95556	0.8625	10	0.87932	D	0	-5.5415	16.0828	0.81017	0.0:0.0:0.0:1.0	.	337	Q7Z6R9	AP2D_HUMAN	K	337	ENSP00000008391:M337K	ENSP00000008391:M337K	M	+	2	0	TFAP2D	50820905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.206000	0.71126	0.477000	0.44152	ATG		PASS	0.393	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		24	142	24	142	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51774231	51774231	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:51774231G>C	ENST00000371117.3	-	40	6807	c.6532C>G	c.(6532-6534)Cta>Gta	p.L2178V	PKHD1_ENST00000340994.4_Missense_Mutation_p.L2178V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2178					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.L2178V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGATCCTAGCATCTTCTCA	0.473																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(6532-6534)CTA>GTA		fibrocystin isoform 1							190.0	181.0	184.0					6																	51774231		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51774231G>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6532C>G	6.37:g.51774231G>C	ENSP00000360158:p.Leu2178Val					PKHD1_uc010jzn.1_Missense_Mutation_p.L203V|PKHD1_uc003pai.2_Missense_Mutation_p.L2178V	p.L2178V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			40	6808	-	Lung NSC(77;0.0605)		2178			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6532C>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	.	11.47	1.647976	0.29336	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86865	-2.0;-2.18	5.61	1.84	0.25277	.	0.113192	0.38217	N	0.001771	D	0.85483	0.5707	M	0.73962	2.25	0.23309	N	0.997935	D;D;D	0.76494	0.999;0.997;0.995	D;D;D	0.80764	0.994;0.963;0.934	T	0.76096	-0.3084	10	0.31617	T	0.26	.	4.9757	0.14138	0.2296:0.0:0.6238:0.1466	.	2178;2178;2178	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	2178	ENSP00000360158:L2178V;ENSP00000341097:L2178V	ENSP00000341097:L2178V	L	-	1	2	PKHD1	51882190	0.186000	0.23225	0.103000	0.21229	0.154000	0.21943	0.505000	0.22642	0.048000	0.15891	0.563000	0.77884	CTA		PASS	0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		98	218	98	218	---	---	---	---
DST	667	broad.mit.edu	37	6	56458656	56458656	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:56458656C>T	ENST00000361203.3	-	44	11905	c.11898G>A	c.(11896-11898)caG>caA	p.Q3966Q	DST_ENST00000421834.2_Silent_p.Q1880Q|DST_ENST00000370769.4_Silent_p.Q3968Q|DST_ENST00000312431.6_Silent_p.Q3966Q|DST_ENST00000446842.2_Silent_p.Q3642Q|DST_ENST00000370754.5_Silent_p.Q4146Q|DST_ENST00000244364.6_Silent_p.Q1554Q|DST_ENST00000370788.2_Silent_p.Q1880Q			Q03001	DYST_HUMAN	dystonin	3966					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.Q3968Q(1)|p.Q1554Q(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGAAACTCTTCTGCCTCTTCA	0.433																																						uc003pdf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(6172-6174)CAG>CAA		dystonin isoform 2							183.0	178.0	180.0					6																	56458656		1919	4145	6064	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56458656C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11898G>A	6.37:g.56458656C>T						DST_uc003pcz.3_Silent_p.Q1880Q|DST_uc011dxj.1_Silent_p.Q1909Q|DST_uc011dxk.1_Silent_p.Q1920Q|DST_uc003pcy.3_Silent_p.Q1554Q|DST_uc010kaa.1_RNA	p.Q2058Q	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		42	6202	-	Lung NSC(77;0.103)		3966			Spectrin 2.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.6174G>A																																																																																					PASS	0.433	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		19	269	19	269	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72968754	72968754	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:72968754G>A	ENST00000521978.1	+	18	2993	c.2993G>A	c.(2992-2994)cGa>cAa	p.R998Q	RIMS1_ENST00000520567.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000264839.7_Missense_Mutation_p.R998Q|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000518273.1_Missense_Mutation_p.R998Q|RIMS1_ENST00000401910.3_Missense_Mutation_p.R471Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R998Q|RIMS1_ENST00000517827.1_Missense_Mutation_p.R457Q|RIMS1_ENST00000523963.1_Missense_Mutation_p.R472Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.R997Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.R997Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.R391Q	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	998					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.R998Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GATGCCTCCCGAAGTCCAGTT	0.353																																						uc003pga.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(2992-2994)CGA>CAA		regulating synaptic membrane exocytosis 1							127.0	126.0	127.0					6																	72968754		1918	4126	6044	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72968754G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2993G>A	6.37:g.72968754G>A	ENSP00000428417:p.Arg998Gln					RIMS1_uc011dyb.1_Missense_Mutation_p.R623Q|RIMS1_uc003pgc.2_Missense_Mutation_p.R624Q|RIMS1_uc010kaq.2_Missense_Mutation_p.R471Q|RIMS1_uc011dyc.1_Missense_Mutation_p.R472Q|RIMS1_uc010kar.2_Missense_Mutation_p.R391Q|RIMS1_uc011dyd.1_Missense_Mutation_p.R457Q|RIMS1_uc003pgf.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgg.2_Missense_Mutation_p.R215Q|RIMS1_uc003pgi.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgh.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgd.2_Missense_Mutation_p.R215Q|RIMS1_uc003pge.2_Missense_Mutation_p.R215Q|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.R624Q|RIMS1_uc010kas.1_Missense_Mutation_p.R457Q	p.R998Q	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			18	3070	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	998					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.2993G>A	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.94|17.94	3.510692|3.510692	0.64522|0.64522	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000522211|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.18338	.|2.44;2.73;2.65;2.73;2.71;2.65;2.57;2.59;2.7;2.67;2.74;2.53;2.73;2.22	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.52532	.|D	.|0.000071	T|T	0.27098|0.27098	0.0664|0.0664	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;D;D;P;P;P;B;P;D;B;D;P	.|0.89917	.|0.17;0.994;0.999;0.745;0.938;0.787;0.054;0.703;0.998;0.181;1.0;0.787	.|B;P;D;B;B;B;B;B;D;B;D;B	.|0.77557	.|0.005;0.885;0.99;0.061;0.166;0.09;0.002;0.07;0.945;0.056;0.99;0.099	T|T	0.00995|0.00995	-1.1487|-1.1487	5|10	.|0.49607	.|T	.|0.09	-4.9164|-4.9164	19.5526|19.5526	0.95328|0.95328	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|457;472;998;457;471;997;250;998;997;251;998;998	.|B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5	.|.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN	K|Q	89|998;998;998;997;998;997;998;997;998;997;997;998;471;472;391;391;457;223	.|ENSP00000430101:R998Q;ENSP00000275037:R997Q;ENSP00000264839:R998Q;ENSP00000429959:R997Q;ENSP00000430408:R998Q;ENSP00000430502:R997Q;ENSP00000430932:R997Q;ENSP00000428417:R998Q;ENSP00000385649:R471Q;ENSP00000428328:R472Q;ENSP00000411235:R391Q;ENSP00000389503:R391Q;ENSP00000428367:R457Q;ENSP00000359448:R223Q	.|ENSP00000264839:R998Q	E|R	+|+	1|2	0|0	RIMS1|RIMS1	73025475|73025475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.818000|0.818000	0.46254|0.46254	5.368000|5.368000	0.66133|0.66133	2.701000|2.701000	0.92244|0.92244	0.563000|0.563000	0.77884|0.77884	GAA|CGA		PASS	0.353	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			27	95	27	95	---	---	---	---
ELOVL4	6785	broad.mit.edu	37	6	80631373	80631373	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:80631373C>G	ENST00000369816.4	-	4	810	c.510G>C	c.(508-510)tgG>tgC	p.W170C		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	170					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)	p.W170C(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TAATTCCAATCCACCACAAGG	0.373																																						uc003pja.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(508-510)TGG>TGC		elongation of very long chain fatty acids-like	Alpha-Linolenic Acid(DB00132)						140.0	131.0	134.0					6																	80631373		2203	4300	6503	SO:0001583	missense	6785				fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	g.chr6:80631373C>G	AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.510G>C	6.37:g.80631373C>G	ENSP00000358831:p.Trp170Cys					ELOVL4_uc011dyt.1_RNA	p.W170C	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0168)	4	829	-		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)	170			Helical; (Potential).		B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	ENST00000369816.4	37	c.510G>C	CCDS4992.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274910	0.80580	.	.	ENSG00000118402	ENST00000369816	T	0.33216	1.42	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76353	-0.2990	10	0.87932	D	0	-6.2898	18.0115	0.89225	0.0:1.0:0.0:0.0	.	170	Q9GZR5	ELOV4_HUMAN	C	170	ENSP00000358831:W170C	ENSP00000358831:W170C	W	-	3	0	ELOVL4	80688092	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.558000	0.86282	0.591000	0.81541	TGG		PASS	0.373	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041315.1			45	178	45	178	---	---	---	---
SPACA1	81833	broad.mit.edu	37	6	88775971	88775971	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:88775971G>C	ENST00000237201.1	+	7	920	c.803G>C	c.(802-804)aGa>aCa	p.R268T	SPACA1_ENST00000462690.1_3'UTR	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	268					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)		p.R268T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AGTTCTGTGAGATACAAAGAT	0.408																																						uc003pmn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(802-804)AGA>ACA		sperm acrosome associated 1 precursor							106.0	115.0	112.0					6																	88775971		2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88775971G>C	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.803G>C	6.37:g.88775971G>C	ENSP00000237201:p.Arg268Thr						p.R268T	NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	7	920	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	268			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000237201.1	37	c.803G>C	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	6.853	0.526601	0.13066	.	.	ENSG00000118434	ENST00000237201	T	0.30981	1.51	4.81	0.998	0.19857	.	0.416572	0.25402	N	0.030940	T	0.14399	0.0348	L	0.60455	1.87	0.09310	N	1	P	0.40731	0.728	B	0.41764	0.366	T	0.06862	-1.0803	10	0.72032	D	0.01	-8.3336	7.0161	0.24889	0.3879:0.0:0.6121:0.0	.	268	Q9HBV2	SACA1_HUMAN	T	268	ENSP00000237201:R268T	ENSP00000237201:R268T	R	+	2	0	SPACA1	88832690	0.161000	0.22892	0.508000	0.27688	0.037000	0.13140	0.147000	0.16202	0.260000	0.21731	-0.373000	0.07131	AGA		PASS	0.408	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			34	149	34	149	---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90647949	90647949	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:90647949G>A	ENST00000257749.4	-	8	2664	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C	BACH2_ENST00000343122.3_Missense_Mutation_p.R653C|BACH2_ENST00000537989.1_Missense_Mutation_p.R653C	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	653	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.R653C(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TTCTTGCTGCGCCGTCGGACA	0.448																																						uc011eab.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(1957-1959)CGC>TGC		BTB and CNC homology 1, basic leucine zipper							109.0	107.0	108.0					6																	90647949		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90647949G>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1957C>T	6.37:g.90647949G>A	ENSP00000257749:p.Arg653Cys					BACH2_uc003pnw.2_Missense_Mutation_p.R653C	p.R653C	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	8	2766	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	653			Basic motif.		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.1957C>T	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583990	0.86748	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	D;D;D	0.93426	-3.22;-3.22;-3.22	4.76	4.76	0.60689	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.112707	0.64402	D	0.000010	D	0.97247	0.9100	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98043	1.0383	10	0.87932	D	0	-19.8388	17.9652	0.89098	0.0:0.0:1.0:0.0	.	653	Q9BYV9	BACH2_HUMAN	C	653	ENSP00000257749:R653C;ENSP00000437473:R653C;ENSP00000345642:R653C	ENSP00000257749:R653C	R	-	1	0	BACH2	90704670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.367000	0.73099	2.470000	0.83445	0.563000	0.77884	CGC		PASS	0.448	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		46	162	46	162	---	---	---	---
FBXL4	26235	broad.mit.edu	37	6	99374492	99374492	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:99374492C>T	ENST00000369244.2	-	4	801	c.373G>A	c.(373-375)Gac>Aac	p.D125N	FBXL4_ENST00000229971.1_Missense_Mutation_p.D125N	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	125					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.D125N(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TCCACATAGTCCTGGCTCTGA	0.453																																						uc003ppf.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(373-375)GAC>AAC		F-box and leucine-rich repeat protein 4							96.0	76.0	83.0					6																	99374492		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99374492C>T	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.373G>A	6.37:g.99374492C>T	ENSP00000358247:p.Asp125Asn					FBXL4_uc003ppg.1_Missense_Mutation_p.D125N|FBXL4_uc003pph.1_5'UTR	p.D125N	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	3	731	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	125					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.373G>A	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234311	0.95207	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.20463	2.07;2.07	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	M	0.83384	2.64	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.49634	-0.8919	10	0.72032	D	0.01	.	19.8176	0.96576	0.0:1.0:0.0:0.0	.	125	Q9UKA2	FBXL4_HUMAN	N	125	ENSP00000358247:D125N;ENSP00000229971:D125N	ENSP00000229971:D125N	D	-	1	0	FBXL4	99481213	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.445000	0.80570	2.765000	0.95021	0.650000	0.86243	GAC		PASS	0.453	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			6	89	6	89	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102516299	102516299	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:102516299G>T	ENST00000421544.1	+	16	3130	c.2640G>T	c.(2638-2640)caG>caT	p.Q880H	GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369137.3_Missense_Mutation_p.Q804H|GRIK2_ENST00000369134.4_Missense_Mutation_p.Q831H|GRIK2_ENST00000413795.1_3'UTR	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	880					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.Q880H(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATAAGCCACAGGCCCCAGTTA	0.443																																						uc003pqp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2638-2640)CAG>CAT		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						113.0	102.0	105.0					6																	102516299		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102516299G>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2640G>T	6.37:g.102516299G>T	ENSP00000397026:p.Gln880His					GRIK2_uc003pqo.3_3'UTR|GRIK2_uc010kcw.2_3'UTR	p.Q880H	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	16	2889	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	880			Cytoplasmic (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2640G>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083700	0.36758	.	.	ENSG00000164418	ENST00000421544;ENST00000369137;ENST00000369134	T;T;T	0.11169	2.8;3.01;2.81	5.79	4.93	0.64822	.	0.062472	0.64402	D	0.000003	T	0.04137	0.0115	L	0.38531	1.155	0.42072	D	0.991216	B	0.06786	0.001	B	0.08055	0.003	T	0.26677	-1.0096	10	0.25106	T	0.35	.	14.8586	0.70362	0.0688:0.0:0.9312:0.0	.	880	Q13002	GRIK2_HUMAN	H	880;804;831	ENSP00000397026:Q880H;ENSP00000358133:Q804H;ENSP00000358130:Q831H	ENSP00000358130:Q831H	Q	+	3	2	GRIK2	102622992	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.384000	0.73177	1.467000	0.48044	-0.379000	0.06801	CAG		PASS	0.443	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			9	79	9	79	---	---	---	---
ZBTB24	9841	broad.mit.edu	37	6	109787325	109787325	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:109787325G>C	ENST00000230122.3	-	7	1990	c.1823C>G	c.(1822-1824)tCa>tGa	p.S608*	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	608					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S608*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTGTTGAGCTGAAAGAATTAA	0.488																																						uc003ptl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1822-1824)TCA>TGA		zinc finger and BTB domain containing 24 isoform							98.0	99.0	99.0					6																	109787325		2203	4300	6503	SO:0001587	stop_gained	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787325G>C	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1823C>G	6.37:g.109787325G>C	ENSP00000230122:p.Ser608*					MICAL1_uc011eaq.1_5'Flank|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Nonsense_Mutation_p.S552*|ZBTB24_uc010kdt.1_RNA	p.S608*	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	7	1991	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	608					Q17RC6|Q5TED5|Q8N455	Nonsense_Mutation	SNP	ENST00000230122.3	37	c.1823C>G	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	G	40	8.047883	0.98627	.	.	ENSG00000112365	ENST00000230122	.	.	.	5.95	5.95	0.96441	.	0.298278	0.32175	N	0.006461	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.505	20.3812	0.98933	0.0:0.0:1.0:0.0	.	.	.	.	X	608	.	ENSP00000230122:S608X	S	-	2	0	ZBTB24	109894018	1.000000	0.71417	0.990000	0.47175	0.971000	0.66376	5.874000	0.69652	2.821000	0.97095	0.650000	0.86243	TCA		PASS	0.488	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		11	195	11	195	---	---	---	---
ZBTB24	9841	broad.mit.edu	37	6	109802560	109802560	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:109802560C>G	ENST00000230122.3	-	2	837	c.670G>C	c.(670-672)Gag>Cag	p.E224Q		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	224					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E224Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTACTTGGCTCACAAGTAGGC	0.453																																						uc003ptl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(670-672)GAG>CAG		zinc finger and BTB domain containing 24 isoform							246.0	242.0	243.0					6																	109802560		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109802560C>G	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.670G>C	6.37:g.109802560C>G	ENSP00000230122:p.Glu224Gln					ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.E224Q|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.E224Q	p.E224Q	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	2	838	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	224					Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.670G>C	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	3.165	-0.171191	0.06421	.	.	ENSG00000112365	ENST00000230122	T	0.11063	2.81	5.28	4.42	0.53409	.	0.565348	0.18691	N	0.133852	T	0.02649	0.0080	N	0.19112	0.55	0.09310	N	1	B;B	0.27068	0.064;0.167	B;B	0.26416	0.069;0.062	T	0.36432	-0.9748	10	0.51188	T	0.08	-13.9879	9.7504	0.40473	0.1398:0.7875:0.0:0.0726	.	224;224	O43167-2;O43167	.;ZBT24_HUMAN	Q	224	ENSP00000230122:E224Q	ENSP00000230122:E224Q	E	-	1	0	ZBTB24	109909253	0.904000	0.30761	0.065000	0.19835	0.162000	0.22319	2.193000	0.42658	1.457000	0.47850	0.655000	0.94253	GAG		PASS	0.453	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		42	780	42	780	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127797202	127797202	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:127797202C>T	ENST00000525778.1	-	6	2714	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	SOGA3_ENST00000556132.1_Missense_Mutation_p.E657K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E657K|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.E657K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E657K			Q5TF21	SOGA3_HUMAN	SOGA family member 3	657					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.E657K(1)									CGCAGCAGCTCCGTCTCGTCT	0.642																																						uc003qbd.2																			1	Substitution - Missense(1)	p.E657E(1)	lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(1969-1971)GAG>AAG		hypothetical protein LOC387104 precursor							50.0	57.0	55.0					6																	127797202		2188	4286	6474	SO:0001583	missense	387104					integral to membrane		g.chr6:127797202C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1969G>A	6.37:g.127797202C>T	ENSP00000434570:p.Glu657Lys					C6orf174_uc003qbc.2_5'Flank	p.E657K	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	2834	-			657			Potential.			Missense_Mutation	SNP	ENST00000525778.1	37	c.1969G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.921018	0.92249	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	M	0.77313	2.365	0.80722	D	1	D	0.61080	0.989	D	0.68765	0.96	T	0.54768	-0.8244	10	0.42905	T	0.14	-24.3048	18.783	0.91942	0.0:1.0:0.0:0.0	.	657	Q5TF21	CF174_HUMAN	K	657	ENSP00000451768:E657K;ENSP00000357251:E657K;ENSP00000434570:E657K;ENSP00000435559:E657K	ENSP00000435559:E657K	E	-	1	0	C6orf174	127838895	1.000000	0.71417	0.954000	0.39281	0.976000	0.68499	7.773000	0.85462	2.445000	0.82738	0.561000	0.74099	GAG		PASS	0.642	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		8	79	8	79	---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130497078	130497078	+	Silent	SNP	T	T	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:130497078T>G	ENST00000368134.2	-	10	1338	c.730A>C	c.(730-732)Aga>Cga	p.R244R	SAMD3_ENST00000437477.2_Silent_p.R244R|SAMD3_ENST00000457563.2_Silent_p.R268R|SAMD3_ENST00000439090.2_Silent_p.R244R|SAMD3_ENST00000532763.1_Silent_p.R242R|SAMD3_ENST00000533296.1_5'UTR	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	244								p.R244R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CACTTATTTCTAATCACTTGC	0.338																																						uc003qbv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(730-732)AGA>CGA		sterile alpha motif domain containing 3 isoform							122.0	123.0	123.0					6																	130497078		2202	4300	6502	SO:0001819	synonymous_variant	154075							g.chr6:130497078T>G	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.730A>C	6.37:g.130497078T>G						SAMD3_uc003qbx.2_Silent_p.R244R|SAMD3_uc003qbw.2_Silent_p.R244R|SAMD3_uc010kfg.1_3'UTR	p.R244R	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	9	1056	-			244					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Silent	SNP	ENST00000368134.2	37	c.730A>C	CCDS34539.1																																																																																				PASS	0.338	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		12	111	12	111	---	---	---	---
TAAR1	134864	broad.mit.edu	37	6	132966255	132966255	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:132966255G>C	ENST00000275216.1	-	1	887	c.888C>G	c.(886-888)aaC>aaG	p.N296K		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	296					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.N296K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	TAAATGTAGAGTTCAAGTAGC	0.353																																						uc003qdm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(886-888)AAC>AAG		trace amine associated receptor 1	Amphetamine(DB00182)						73.0	70.0	71.0					6																	132966255		2202	4299	6501	SO:0001583	missense	134864					plasma membrane		g.chr6:132966255G>C	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.888C>G	6.37:g.132966255G>C	ENSP00000275216:p.Asn296Lys						p.N296K	NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	888	-	Breast(56;0.135)		296			Helical; Name=7; (Potential).		Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.888C>G	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244859	0.59103	.	.	ENSG00000146399	ENST00000275216	T	0.50548	0.74	5.94	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73369	0.3578	H	0.99368	4.535	0.40882	D	0.984002	D	0.89917	1.0	D	0.97110	1.0	T	0.76958	-0.2766	10	0.87932	D	0	-18.235	8.314	0.32088	0.539:0.0:0.461:0.0	.	296	Q96RJ0	TAAR1_HUMAN	K	296	ENSP00000275216:N296K	ENSP00000275216:N296K	N	-	3	2	TAAR1	133007948	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.778000	0.38614	0.372000	0.24591	0.557000	0.71058	AAC		PASS	0.353	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		15	109	15	109	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599714	136599714	+	Missense_Mutation	SNP	G	G	C	rs147983194	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:136599714G>C	ENST00000531224.1	-	4	557	c.305C>G	c.(304-306)tCt>tGt	p.S102C	BCLAF1_ENST00000392348.2_Missense_Mutation_p.S100C|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S102C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S100C|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S100C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S102C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	102					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.S102C(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGGACTCCTAGAGTGCCTTCT	0.478																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(304-306)TCT>TGT		BCL2-associated transcription factor 1 isoform							146.0	143.0	144.0					6																	136599714		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599714G>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.305C>G	6.37:g.136599714G>C	ENSP00000435210:p.Ser102Cys					BCLAF1_uc003qgw.1_Missense_Mutation_p.S102C|BCLAF1_uc003qgy.1_Missense_Mutation_p.S100C|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S100C	p.S102C	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	558	-	Colorectal(23;0.24)		102					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.305C>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845343	0.51164	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.15718	2.82;2.82;2.82;2.4;2.82;2.82;2.63	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000014	T	0.30541	0.0768	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.76071	0.987;0.987;0.987;0.987	T	0.03000	-1.1084	10	0.72032	D	0.01	-6.9178	19.1308	0.93406	0.0:0.0:1.0:0.0	.	100;100;102;102	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	C	102;100;102;102;100;100;102	ENSP00000435210:S102C;ENSP00000229446:S100C;ENSP00000435441:S102C;ENSP00000436501:S102C;ENSP00000434826:S100C;ENSP00000376159:S100C;ENSP00000431734:S102C	ENSP00000229446:S100C	S	-	2	0	BCLAF1	136641407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.130000	0.77235	2.602000	0.87976	0.557000	0.71058	TCT		PASS	0.478	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		10	282	10	282	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144808687	144808687	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:144808687C>G	ENST00000367545.3	+	28	3826	c.3826C>G	c.(3826-3828)Ctg>Gtg	p.L1276V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1276					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L1276V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTCCAGTCTCTGGAATCTGT	0.413																																						uc003qkt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(3826-3828)CTG>GTG		utrophin							60.0	66.0	64.0					6																	144808687		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144808687C>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3826C>G	6.37:g.144808687C>G	ENSP00000356515:p.Leu1276Val						p.L1276V	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	28	3918	+		Ovarian(120;0.218)	1276			Spectrin 9.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.3826C>G	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332273	0.60853	.	.	ENSG00000152818	ENST00000367545	T	0.44881	0.91	5.33	2.11	0.27256	.	0.000000	0.41097	D	0.000955	T	0.43634	0.1256	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.38607	-0.9653	10	0.21540	T	0.41	.	8.7369	0.34534	0.0:0.6519:0.0:0.3481	.	1276	P46939	UTRO_HUMAN	V	1276	ENSP00000356515:L1276V	ENSP00000356515:L1276V	L	+	1	2	UTRN	144850380	0.922000	0.31269	0.999000	0.59377	0.924000	0.55760	0.459000	0.21908	0.754000	0.32968	0.655000	0.94253	CTG		PASS	0.413	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			9	121	9	121	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152577810	152577810	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:152577810G>C	ENST00000367255.5	-	102	19664	c.19063C>G	c.(19063-19065)Ctg>Gtg	p.L6355V	SYNE1_ENST00000356820.4_Missense_Mutation_p.L879V|SYNE1_ENST00000448038.1_Missense_Mutation_p.L6284V|SYNE1_ENST00000341594.5_Missense_Mutation_p.L5967V|SYNE1_ENST00000265368.4_Missense_Mutation_p.L6355V|SYNE1_ENST00000423061.1_Missense_Mutation_p.L6284V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6355					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L6355V(2)|p.L6284V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTCCATCCAGCAAAGATGTA	0.458										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(19063-19065)CTG>GTG		spectrin repeat containing, nuclear envelope 1							167.0	138.0	148.0					6																	152577810		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152577810G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19063C>G	6.37:g.152577810G>C	ENSP00000356224:p.Leu6355Val	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.L879V|SYNE1_uc003qos.3_Missense_Mutation_p.L879V|SYNE1_uc003qot.3_Missense_Mutation_p.L6284V|SYNE1_uc003qou.3_Missense_Mutation_p.L6355V	p.L6355V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	102	19665	-		Ovarian(120;0.0955)	6355			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.19063C>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110826	0.56398	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.58797	0.4;0.38;0.31;0.39;0.54;2.49	5.52	4.65	0.58169	.	0.000000	0.45867	D	0.000330	T	0.47021	0.1423	L	0.53249	1.67	0.34268	D	0.680724	D;D;D	0.57899	0.968;0.968;0.981	P;P;P	0.50860	0.449;0.449;0.652	T	0.52109	-0.8619	10	0.39692	T	0.17	.	11.1199	0.48284	0.1947:0.0:0.8053:0.0	.	6355;6355;6284	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	V	6355;6284;6355;6284;5967;879	ENSP00000356224:L6355V;ENSP00000396024:L6284V;ENSP00000265368:L6355V;ENSP00000390975:L6284V;ENSP00000341887:L5967V;ENSP00000349276:L879V	ENSP00000265368:L6355V	L	-	1	2	SYNE1	152619503	0.986000	0.35501	0.947000	0.38551	0.806000	0.45545	1.072000	0.30678	1.470000	0.48102	0.650000	0.86243	CTG		PASS	0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		36	170	36	170	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152772190	152772190	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr6:152772190C>G	ENST00000367255.5	-	26	3779	c.3178G>C	c.(3178-3180)Gag>Cag	p.E1060Q	SYNE1_ENST00000413186.2_Missense_Mutation_p.E1060Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1067Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1126Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1050Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1060Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1067Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1060Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1060					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E1060Q(2)|p.E1067Q(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCCTGTGCTCTTTAATTATC	0.428										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3178-3180)GAG>CAG		spectrin repeat containing, nuclear envelope 1							238.0	212.0	221.0					6																	152772190		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152772190C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3178G>C	6.37:g.152772190C>G	ENSP00000356224:p.Glu1060Gln	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E1067Q|SYNE1_uc003qou.3_Missense_Mutation_p.E1060Q|SYNE1_uc010kjb.1_Missense_Mutation_p.E1043Q|SYNE1_uc003qow.2_Missense_Mutation_p.E355Q|SYNE1_uc003qox.1_Missense_Mutation_p.E576Q	p.E1060Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	26	3780	-		Ovarian(120;0.0955)	1060			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3178G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	34	5.312015	0.95655	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.89270	0.47;0.46;0.38;0.46;0.56;-2.35;-2.49;-2.48	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000008	D	0.93575	0.7949	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.999;0.998;0.999	D	0.90277	0.4312	10	0.30078	T	0.28	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1043;1060;1050;1060;1060;1067	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	Q	1060;1067;1060;1067;1126;1060;1050;1060	ENSP00000356224:E1060Q;ENSP00000396024:E1067Q;ENSP00000265368:E1060Q;ENSP00000390975:E1067Q;ENSP00000341887:E1126Q;ENSP00000356222:E1060Q;ENSP00000356217:E1050Q;ENSP00000414510:E1060Q	ENSP00000265368:E1060Q	E	-	1	0	SYNE1	152813883	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	5.500000	0.66943	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		10	295	10	295	---	---	---	---
NUDT1	4521	broad.mit.edu	37	7	2284336	2284336	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:2284336G>A	ENST00000397046.1	+	3	224	c.127G>A	c.(127-129)Gag>Aag	p.E43K	NUDT1_ENST00000397048.1_Missense_Mutation_p.E66K|FTSJ2_ENST00000486040.1_5'Flank|FTSJ2_ENST00000440306.2_5'Flank|NUDT1_ENST00000339737.2_Missense_Mutation_p.E43K|NUDT1_ENST00000356714.1_Missense_Mutation_p.E43K|NUDT1_ENST00000397049.1_Missense_Mutation_p.E66K|NUDT1_ENST00000343985.4_Missense_Mutation_p.E66K|FTSJ2_ENST00000242257.8_5'Flank	NM_198950.1	NP_945188.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	84					ATP catabolic process (GO:0006200)|dATP catabolic process (GO:0046061)|dGTP catabolic process (GO:0006203)|DNA protection (GO:0042262)|DNA repair (GO:0006281)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide catabolic process (GO:0006195)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|ATP diphosphatase activity (GO:0047693)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)	p.E66K(1)		large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GCAAGAAGGAGAGACCATCGA	0.622								Modulation of nucleotide pools																														uc003slp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)GAG>AAG	Direct_reversal_of_damage|Modulation_of_nucleotide_pools	nudix-type motif 1 isoform p22							41.0	41.0	41.0					7																	2284336		2203	4300	6503	SO:0001583	missense	4521				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	g.chr7:2284336G>A	D16581	CCDS5329.1, CCDS5330.1	7p22	2008-07-18			ENSG00000106268	ENSG00000106268		"""Nudix motif containing"""	8048	protein-coding gene	gene with protein product	"""mutT human homolog 1"", ""nudix motif 1"", ""8-oxo-7,8-dihydrodeoxyguanosine triphosphatase"", ""8-oxo-dGTPase"", ""7,8-dihydro-8-oxoguanine triphosphatase"", ""8-oxo-7,8-dihydroguanosine triphosphatase"", ""nucleoside diphosphate-linked moiety X-type motif 1"""	600312		MTH1		7713494, 8226881	Standard	NM_002452		Approved		uc003slp.1	P36639	OTTHUMG00000023072	ENST00000397046.1:c.127G>A	7.37:g.2284336G>A	ENSP00000380239:p.Glu43Lys					FTSJ2_uc003slk.2_5'Flank|FTSJ2_uc003sll.2_5'Flank|FTSJ2_uc003slm.2_5'Flank|FTSJ2_uc003sln.2_5'Flank|FTSJ2_uc003slo.2_5'Flank|NUDT1_uc003slq.1_Missense_Mutation_p.E43K|NUDT1_uc003slr.1_Missense_Mutation_p.E43K|NUDT1_uc003sls.1_Missense_Mutation_p.E66K|NUDT1_uc003slt.1_Missense_Mutation_p.E43K|NUDT1_uc003slu.1_Missense_Mutation_p.E66K|NUDT1_uc003slv.1_Missense_Mutation_p.E43K	p.E66K	NM_198949	NP_945187	P36639	8ODP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	3	298	+		Ovarian(82;0.0253)|Melanoma(862;0.155)	84			Nudix box.|Nudix hydrolase.		A4D205|Q6LES7|Q6P0Y6|Q7Z7N6|Q8IV95|Q9UBM0|Q9UBM9	Missense_Mutation	SNP	ENST00000397046.1	37	c.196G>A	CCDS5330.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633946	0.87660	.	.	ENSG00000106268	ENST00000356714;ENST00000397049;ENST00000397046;ENST00000397048;ENST00000343985;ENST00000339737	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	3.8	3.8	0.43715	NUDIX hydrolase (1);NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	D	0.85013	0.5600	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91668	0.5348	10	0.87932	D	0	-14.9165	16.0353	0.80625	0.0:0.0:1.0:0.0	.	84	P36639	8ODP_HUMAN	K	43;66;43;66;66;43	ENSP00000349148:E43K;ENSP00000380242:E66K;ENSP00000380239:E43K;ENSP00000380241:E66K;ENSP00000339503:E66K;ENSP00000343439:E43K	ENSP00000343439:E43K	E	+	1	0	NUDT1	2250862	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	6.021000	0.70832	1.816000	0.52996	0.462000	0.41574	GAG		PASS	0.622	NUDT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206922.1	NM_002452		12	55	12	55	---	---	---	---
NUDT1	4521	broad.mit.edu	37	7	2284345	2284345	+	Missense_Mutation	SNP	G	G	A	rs374666803		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:2284345G>A	ENST00000397046.1	+	3	233	c.136G>A	c.(136-138)Gag>Aag	p.E46K	NUDT1_ENST00000397048.1_Missense_Mutation_p.E69K|FTSJ2_ENST00000486040.1_5'Flank|FTSJ2_ENST00000440306.2_5'Flank|NUDT1_ENST00000339737.2_Missense_Mutation_p.E46K|NUDT1_ENST00000356714.1_Missense_Mutation_p.E46K|NUDT1_ENST00000397049.1_Missense_Mutation_p.E69K|NUDT1_ENST00000343985.4_Missense_Mutation_p.E69K|FTSJ2_ENST00000242257.8_5'Flank	NM_198950.1	NP_945188.1	P36639	8ODP_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 1	87	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				ATP catabolic process (GO:0006200)|dATP catabolic process (GO:0046061)|dGTP catabolic process (GO:0006203)|DNA protection (GO:0042262)|DNA repair (GO:0006281)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide catabolic process (GO:0006195)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|ATP diphosphatase activity (GO:0047693)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|snoRNA binding (GO:0030515)	p.E69K(1)		large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		AGAGACCATCGAGGATGGGGC	0.612								Modulation of nucleotide pools																														uc003slp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(205-207)GAG>AAG	Direct_reversal_of_damage|Modulation_of_nucleotide_pools	nudix-type motif 1 isoform p22		G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	38.0	38.0	38.0		136,136,205,136,205,136,205	3.8	1.0	7		38	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	NUDT1	NM_002452.3,NM_198948.1,NM_198949.1,NM_198950.1,NM_198952.1,NM_198953.1,NM_198954.1	56,56,56,56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	46/157,46/157,69/180,46/157,69/180,46/157,69/180	2284345	1,13005	2203	4300	6503	SO:0001583	missense	4521				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	g.chr7:2284345G>A	D16581	CCDS5329.1, CCDS5330.1	7p22	2008-07-18			ENSG00000106268	ENSG00000106268		"""Nudix motif containing"""	8048	protein-coding gene	gene with protein product	"""mutT human homolog 1"", ""nudix motif 1"", ""8-oxo-7,8-dihydrodeoxyguanosine triphosphatase"", ""8-oxo-dGTPase"", ""7,8-dihydro-8-oxoguanine triphosphatase"", ""8-oxo-7,8-dihydroguanosine triphosphatase"", ""nucleoside diphosphate-linked moiety X-type motif 1"""	600312		MTH1		7713494, 8226881	Standard	NM_002452		Approved		uc003slp.1	P36639	OTTHUMG00000023072	ENST00000397046.1:c.136G>A	7.37:g.2284345G>A	ENSP00000380239:p.Glu46Lys					FTSJ2_uc003slk.2_5'Flank|FTSJ2_uc003sll.2_5'Flank|FTSJ2_uc003slm.2_5'Flank|FTSJ2_uc003sln.2_5'Flank|FTSJ2_uc003slo.2_5'Flank|NUDT1_uc003slq.1_Missense_Mutation_p.E46K|NUDT1_uc003slr.1_Missense_Mutation_p.E46K|NUDT1_uc003sls.1_Missense_Mutation_p.E69K|NUDT1_uc003slt.1_Missense_Mutation_p.E46K|NUDT1_uc003slu.1_Missense_Mutation_p.E69K|NUDT1_uc003slv.1_Missense_Mutation_p.E46K	p.E69K	NM_198949	NP_945187	P36639	8ODP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	3	307	+		Ovarian(82;0.0253)|Melanoma(862;0.155)	87			Nudix box.|Nudix hydrolase.		A4D205|Q6LES7|Q6P0Y6|Q7Z7N6|Q8IV95|Q9UBM0|Q9UBM9	Missense_Mutation	SNP	ENST00000397046.1	37	c.205G>A	CCDS5330.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362137	0.82353	0.0	1.16E-4	ENSG00000106268	ENST00000356714;ENST00000397049;ENST00000397046;ENST00000397048;ENST00000343985;ENST00000339737	T;T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95;2.95	3.8	3.8	0.43715	NUDIX hydrolase (2);NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	M	0.86651	2.83	0.80722	D	1	D	0.64830	0.994	D	0.66084	0.941	T	0.37776	-0.9691	10	0.32370	T	0.25	-20.8657	16.0353	0.80625	0.0:0.0:1.0:0.0	.	87	P36639	8ODP_HUMAN	K	46;69;46;69;69;46	ENSP00000349148:E46K;ENSP00000380242:E69K;ENSP00000380239:E46K;ENSP00000380241:E69K;ENSP00000339503:E69K;ENSP00000343439:E46K	ENSP00000343439:E46K	E	+	1	0	NUDT1	2250871	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	5.061000	0.64319	1.816000	0.52996	0.462000	0.41574	GAG		PASS	0.612	NUDT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206922.1	NM_002452		10	44	10	44	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4007005	4007005	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:4007005G>A	ENST00000404826.2	+	10	1624	c.1485G>A	c.(1483-1485)atG>atA	p.M495I	SDK1_ENST00000389531.3_Missense_Mutation_p.M495I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	495	Ig-like C2-type 5.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.M495I(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTGACGGGATGACAGCCATTC	0.547																																						uc003smx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(1483-1485)ATG>ATA		sidekick 1 precursor							107.0	104.0	105.0					7																	4007005		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4007005G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1485G>A	7.37:g.4007005G>A	ENSP00000385899:p.Met495Ile						p.M495I	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	10	1624	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	495			Ig-like C2-type 5.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1485G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	8.910	0.958437	0.18507	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	D;D	0.95949	-3.86;-3.86	5.65	3.84	0.44239	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.125531	0.53938	D	0.000043	D	0.90283	0.6961	L	0.32530	0.975	0.20926	N	0.99983	B	0.33000	0.393	B	0.31101	0.124	T	0.83150	-0.0104	10	0.52906	T	0.07	.	7.4986	0.27505	0.1443:0.1464:0.7093:0.0	.	495	Q7Z5N4	SDK1_HUMAN	I	495	ENSP00000385899:M495I;ENSP00000374182:M495I	ENSP00000374182:M495I	M	+	3	0	SDK1	3973531	1.000000	0.71417	0.469000	0.27204	0.894000	0.52154	1.508000	0.35769	0.730000	0.32425	0.655000	0.94253	ATG		PASS	0.547	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		14	142	14	142	---	---	---	---
RBAK	57786	broad.mit.edu	37	7	5104735	5104735	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:5104735G>A	ENST00000353796.3	+	6	1972	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.E550K|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	550	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E550K(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GTTATTCAATGAGTTGTCATA	0.388																																						uc010kss.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|skin(1)	5						c.(1648-1650)GAG>AAG		RB-associated KRAB repressor							63.0	63.0	63.0					7																	5104735		2203	4299	6502	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5104735G>A	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1648G>A	7.37:g.5104735G>A	ENSP00000275423:p.Glu550Lys					LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E550K	p.E550K	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	1972	+		Ovarian(82;0.0175)	550			Interaction with AR.|C2H2-type 11.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.1648G>A	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	9.915	1.210487	0.22289	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.14516	2.5;2.5	3.76	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.572849	0.15837	N	0.242235	T	0.10078	0.0247	N	0.17345	0.48	0.25443	N	0.988075	B	0.27882	0.192	B	0.35413	0.202	T	0.25257	-1.0137	8	.	.	.	.	11.6126	0.51069	0.0:0.1819:0.8181:0.0	.	550	Q9NYW8	RBAK_HUMAN	K	550	ENSP00000275423:E550K;ENSP00000380120:E550K	.	E	+	1	0	RBAK	5071261	0.000000	0.05858	0.770000	0.31555	0.894000	0.52154	-1.498000	0.02287	1.146000	0.42352	0.555000	0.69702	GAG		PASS	0.388	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		24	152	24	152	---	---	---	---
DAGLB	221955	broad.mit.edu	37	7	6464443	6464443	+	Silent	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:6464443C>A	ENST00000297056.6	-	8	1249	c.1080G>T	c.(1078-1080)gtG>gtT	p.V360V	DAGLB_ENST00000436575.1_Silent_p.V319V|DAGLB_ENST00000421761.2_Silent_p.V104V|DAGLB_ENST00000428902.2_Silent_p.V233V|DAGLB_ENST00000425398.2_Silent_p.V231V	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	360					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.V360V(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GATCCAGAGCCACTAAAAACG	0.557																																						uc003sqa.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1078-1080)GTG>GTT		diacylglycerol lipase, beta isoform 1							122.0	106.0	111.0					7																	6464443		2203	4300	6503	SO:0001819	synonymous_variant	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6464443C>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1080G>T	7.37:g.6464443C>A						DAGLB_uc003spz.2_5'Flank|DAGLB_uc011jwt.1_Silent_p.V174V|DAGLB_uc011jwu.1_Silent_p.V231V|DAGLB_uc003sqb.2_Silent_p.V79V|DAGLB_uc003sqc.2_Silent_p.V79V|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.V319V|DAGLB_uc011jww.1_RNA	p.V360V	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	8	1250	-		Ovarian(82;0.232)	360			Cytoplasmic (Potential).		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	ENST00000297056.6	37	c.1080G>T	CCDS5350.1																																																																																				PASS	0.557	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		43	86	43	86	---	---	---	---
AC005013.5	0	broad.mit.edu	37	7	28996473	28996473	+	lincRNA	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:28996473C>A	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							GTATTTGCCTCGCAGGGCCGG	0.667																																						uc003szt.2																			0					0						c.(1189-1191)CGA>CTA		TLR4 interactor with leucine rich repeats							29.0	37.0	34.0					7																	28996473		2088	4209	6297			9865				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding	g.chr7:28996473C>A																													7.37:g.28996473C>A						uc003szu.1_5'Flank	p.R397L	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN			3	1557	-			397			Extracellular (Potential).|LRRCT.			Missense_Mutation	SNP	ENST00000436594.1	37	c.1190G>T																																																																																					PASS	0.667	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3			15	122	15	122	---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30491410	30491410	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:30491410G>A	ENST00000222823.4	-	6	2148	c.1623C>T	c.(1621-1623)ctC>ctT	p.L541L		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	541					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.L541L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GGAAGAACCTGAGCAGCTCCT	0.627																																						uc003tav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1621-1623)CTC>CTT		nucleotide-binding oligomerization domain							60.0	69.0	66.0					7																	30491410		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491410G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1623C>T	7.37:g.30491410G>A							p.L541L	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			6	2146	-			541					B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.1623C>T	CCDS5427.1																																																																																				PASS	0.627	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			17	289	17	289	---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30492088	30492088	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:30492088G>A	ENST00000222823.4	-	6	1470	c.945C>T	c.(943-945)gcC>gcT	p.A315A	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	315	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.A315A(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGAGCAGGTTGGCCAGCAAGA	0.662																																						uc003tav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(943-945)GCC>GCT		nucleotide-binding oligomerization domain							25.0	27.0	26.0					7																	30492088		2202	4300	6502	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30492088G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.945C>T	7.37:g.30492088G>A						NOD1_uc010kvs.2_3'UTR	p.A315A	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			6	1468	-			315			NACHT.		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.945C>T	CCDS5427.1																																																																																				PASS	0.662	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			5	64	5	64	---	---	---	---
AEBP1	165	broad.mit.edu	37	7	44152268	44152268	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:44152268C>A	ENST00000223357.3	+	18	2634	c.2329C>A	c.(2329-2331)Cgc>Agc	p.R777S	AEBP1_ENST00000450684.2_Missense_Mutation_p.R352S|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	777	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R777S(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CGATATGGCCCGCACGCCTAC	0.657																																						uc003tkb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2329-2331)CGC>AGC		adipocyte enhancer binding protein 1 precursor							33.0	38.0	36.0					7																	44152268		2203	4299	6502	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44152268C>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2329C>A	7.37:g.44152268C>A	ENSP00000223357:p.Arg777Ser					AEBP1_uc003tkc.3_Missense_Mutation_p.R352S|AEBP1_uc003tkd.2_Missense_Mutation_p.R27S	p.R777S	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			18	2634	+			777			Interaction with PTEN (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.2329C>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284909	0.59867	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.10860	2.83;2.83	5.08	4.18	0.49190	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	L	0.48218	1.51	0.41375	D	0.987512	P;D	0.53745	0.913;0.962	P;D	0.65140	0.615;0.932	T	0.01382	-1.1369	10	0.72032	D	0.01	-21.7634	14.7572	0.69576	0.146:0.8539:0.0:0.0	.	352;777	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	S	777;352	ENSP00000223357:R777S;ENSP00000398878:R352S	ENSP00000223357:R777S	R	+	1	0	AEBP1	44118793	0.992000	0.36948	0.991000	0.47740	0.102000	0.19082	3.772000	0.55325	1.254000	0.44035	0.491000	0.48974	CGC		PASS	0.657	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		13	33	13	33	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45699709	45699709	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:45699709G>T	ENST00000297323.7	+	7	1398	c.1376G>T	c.(1375-1377)gGa>gTa	p.G459V	ADCY1_ENST00000432715.1_Missense_Mutation_p.G234V	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	459					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.G459V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCGGGTTACGGACATGAGAGG	0.493																																						uc003tne.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1375-1377)GGA>GTA		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						176.0	157.0	163.0					7																	45699709		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45699709G>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1376G>T	7.37:g.45699709G>T	ENSP00000297323:p.Gly459Val					ADCY1_uc003tnd.2_Missense_Mutation_p.G234V	p.G459V	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			7	1394	+			459			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1376G>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238600	0.79800	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	T;T	0.80304	-1.36;-1.36	5.5	4.61	0.57282	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	D	0.90143	0.6920	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.98;0.997	D	0.90164	0.4230	10	0.45353	T	0.12	.	11.3362	0.49505	0.0876:0.0:0.9124:0.0	.	459;234	Q08828;C9J1J0	ADCY1_HUMAN;.	V	234;459;459	ENSP00000392721:G234V;ENSP00000297323:G459V	ENSP00000297323:G459V	G	+	2	0	ADCY1	45666234	1.000000	0.71417	0.208000	0.23602	0.987000	0.75469	7.318000	0.79029	2.563000	0.86464	0.551000	0.68910	GGA		PASS	0.493	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		83	174	83	174	---	---	---	---
SEPT14	346288	broad.mit.edu	37	7	55872950	55872950	+	Splice_Site	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:55872950C>A	ENST00000388975.3	-	9	1236		c.e9+1			NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.?(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCAGTACTAACCTCTTTTTCA	0.343																																						uc003tqz.2																			2	Unknown(2)		lung(2)		0						c.e9+1		septin 14							129.0	127.0	128.0					7																	55872950		2202	4300	6502	SO:0001630	splice_region_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55872950C>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.1119+1G>T	7.37:g.55872950C>A							p.E373_splice	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		9	1236	-	Breast(14;0.214)							A6NCC2|B4DXD6	Splice_Site	SNP	ENST00000388975.3	37	c.1119_splice	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	c	5.845	0.340079	0.11069	.	.	ENSG00000154997	ENST00000388975	.	.	.	2.97	2.06	0.26882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2366	0.26074	0.2645:0.7355:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEPT14	55840444	1.000000	0.71417	0.983000	0.44433	0.082000	0.17680	5.980000	0.70516	0.795000	0.33922	-0.282000	0.10007	.		PASS	0.343	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366	Intron	24	74	24	74	---	---	---	---
ZNF107	51427	broad.mit.edu	37	7	64168243	64168243	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:64168243G>C	ENST00000395391.1	+	4	2936	c.1561G>C	c.(1561-1563)Gag>Cag	p.E521Q	ZNF107_ENST00000344930.3_Missense_Mutation_p.E521Q|ZNF107_ENST00000423627.1_Missense_Mutation_p.E521Q			Q9UII5	ZN107_HUMAN	zinc finger protein 107	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E521Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TCATACTAAAGAGAAACTCAA	0.338																																						uc003ttd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1561-1563)GAG>CAG		zinc finger protein 107							37.0	38.0	38.0					7																	64168243		2202	4293	6495	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168243G>C	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1561G>C	7.37:g.64168243G>C	ENSP00000378789:p.Glu521Gln					ZNF107_uc003tte.2_Missense_Mutation_p.E521Q	p.E521Q	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	2347	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	521						Missense_Mutation	SNP	ENST00000395391.1	37	c.1561G>C	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	12.17	1.858468	0.32791	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.01025	5.43;5.43;5.43	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01287	0.0042	M	0.72576	2.205	0.23966	N	0.996326	P	0.44816	0.844	B	0.38225	0.268	T	0.47661	-0.9100	8	.	.	.	.	3.6571	0.08225	0.2769:0.0:0.723:0.0	.	521	Q9UII5	ZN107_HUMAN	Q	521	ENSP00000343443:E521Q;ENSP00000400037:E521Q;ENSP00000378789:E521Q	.	E	+	1	0	ZNF107	63805678	0.976000	0.34144	0.053000	0.19242	0.344000	0.29017	3.894000	0.56250	0.635000	0.30488	0.313000	0.20887	GAG		PASS	0.338	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		7	82	7	82	---	---	---	---
HIP1	3092	broad.mit.edu	37	7	75228554	75228554	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:75228554G>C	ENST00000336926.6	-	2	158	c.132C>G	c.(130-132)atC>atG	p.I44M	HIP1_ENST00000434438.2_Missense_Mutation_p.I44M	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	44	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.I44M(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGCCTTATTGATGCTGACAG	0.507			T	PDGFRB	CMML																																	uc003uds.1				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		1	Substitution - Missense(1)		lung(1)	lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(130-132)ATC>ATG		huntingtin interacting protein 1							123.0	128.0	126.0					7																	75228554		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75228554G>C	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.132C>G	7.37:g.75228554G>C	ENSP00000336747:p.Ile44Met						p.I44M	NM_005338	NP_005329	O00291	HIP1_HUMAN			2	173	-			44			ENTH.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.132C>G	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278885	0.59758	.	.	ENSG00000127946	ENST00000336926;ENST00000434438;ENST00000420909	T;T;T	0.42131	0.98;0.98;0.98	5.13	4.24	0.50183	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.094156	0.64402	D	0.000001	T	0.57902	0.2085	M	0.71206	2.165	0.42978	D	0.994452	P	0.48350	0.909	D	0.63957	0.92	T	0.61043	-0.7142	10	0.87932	D	0	-22.0486	7.8602	0.29506	0.0813:0.0:0.7588:0.16	.	44	O00291	HIP1_HUMAN	M	44;44;15	ENSP00000336747:I44M;ENSP00000410300:I44M;ENSP00000414280:I15M	ENSP00000336747:I44M	I	-	3	3	HIP1	75066490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.096000	0.64535	1.381000	0.46364	0.561000	0.74099	ATC		PASS	0.507	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		9	211	9	211	---	---	---	---
MAGI2	9863	broad.mit.edu	37	7	77885473	77885473	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:77885473C>A	ENST00000354212.4	-	10	2087	c.1834G>T	c.(1834-1836)Gcc>Tcc	p.A612S	MAGI2_ENST00000536571.1_Missense_Mutation_p.A444S|MAGI2_ENST00000522391.1_Missense_Mutation_p.A612S|MAGI2_ENST00000535697.1_Missense_Mutation_p.A449S|MAGI2_ENST00000419488.1_Missense_Mutation_p.A612S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	612	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.A612S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AAGCCCTGGGCACCTTTCACA	0.537																																						uc003ugx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(1834-1836)GCC>TCC		membrane associated guanylate kinase, WW and PDZ							78.0	69.0	72.0					7																	77885473		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885473C>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1834G>T	7.37:g.77885473C>A	ENSP00000346151:p.Ala612Ser					MAGI2_uc003ugy.2_Missense_Mutation_p.A612S|MAGI2_uc010ldx.1_Missense_Mutation_p.A221S|MAGI2_uc010ldy.1_Missense_Mutation_p.A221S|MAGI2_uc011kgr.1_Missense_Mutation_p.A444S|MAGI2_uc011kgs.1_Missense_Mutation_p.A449S	p.A612S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			10	2088	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	612			PDZ 3.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1834G>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574073	0.45902	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.85	4.05	0.47172	PDZ/DHR/GLGF (3);	0.000000	0.36234	U	0.002703	T	0.15565	0.0375	N	0.04959	-0.14	0.51012	D	0.999907	P;B;P;P;P;P	0.49559	0.721;0.036;0.846;0.846;0.881;0.925	B;B;B;B;B;P	0.45071	0.281;0.017;0.41;0.41;0.406;0.468	T	0.08452	-1.0721	10	0.72032	D	0.01	.	11.4128	0.49935	0.0:0.8552:0.0:0.1448	.	449;444;612;612;612;612	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	S	612;612;612;612;444;449	ENSP00000405766:A612S;ENSP00000346151:A612S;ENSP00000428389:A612S;ENSP00000441584:A444S;ENSP00000441603:A449S	ENSP00000346151:A612S	A	-	1	0	MAGI2	77723409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.278000	0.51662	1.481000	0.48307	0.561000	0.74099	GCC		PASS	0.537	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		7	43	7	43	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86468858	86468858	+	Silent	SNP	C	C	T	rs112184476	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:86468858C>T	ENST00000361669.2	+	4	3127	c.2028C>T	c.(2026-2028)ggC>ggT	p.G676G	GRM3_ENST00000546348.1_Silent_p.G268G|GRM3_ENST00000536043.1_Silent_p.G548G|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	676					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.G676G(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TCAAGAATGGCGCTCAGAGGC	0.547													C|||	22	0.00439297	0.0136	0.0058	5008	,	,		20088	0.0		0.0	False		,,,				2504	0.0				GBM(52;969 1098 3139 52280)	uc003uid.2																			2	Substitution - coding silent(2)		upper_aerodigestive_tract(1)|lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(2026-2028)GGC>GGT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)	C		29,4377	36.0+/-67.5	0,29,2174	85.0	83.0	83.0		2028	3.6	1.0	7	dbSNP_132	83	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRM3	NM_000840.2		0,31,6472	TT,TC,CC		0.0233,0.6582,0.2384		676/880	86468858	31,12975	2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468858C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2028C>T	7.37:g.86468858C>T						GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.G548G|GRM3_uc010leh.2_Silent_p.G268G	p.G676G	NM_000840	NP_000831	Q14832	GRM3_HUMAN			4	3127	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		676			Cytoplasmic (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.2028C>T	CCDS5600.1																																																																																				PASS	0.547	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			36	134	36	134	---	---	---	---
PPP1R9A	55607	broad.mit.edu	37	7	94540111	94540111	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:94540111C>G	ENST00000433881.1	+	2	1218	c.686C>G	c.(685-687)tCa>tGa	p.S229*	PPP1R9A_ENST00000289495.5_Nonsense_Mutation_p.S229*|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.S229*|PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.S229*|PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.S229*|PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.S229*			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	229					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.S229*(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AATGAATACTCAGTGACTGGG	0.433										HNSCC(28;0.073)																												uc003unp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(685-687)TCA>TGA		protein phosphatase 1, regulatory (inhibitor)							88.0	80.0	83.0					7																	94540111		2203	4300	6503	SO:0001587	stop_gained	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94540111C>G	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.686C>G	7.37:g.94540111C>G	ENSP00000398870:p.Ser229*	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Nonsense_Mutation_p.S229*|PPP1R9A_uc011kif.1_Nonsense_Mutation_p.S229*|PPP1R9A_uc003unq.2_Nonsense_Mutation_p.S229*|PPP1R9A_uc011kig.1_Nonsense_Mutation_p.S229*	p.S229*	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	968	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		229					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Nonsense_Mutation	SNP	ENST00000433881.1	37	c.686C>G	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	36	5.635068	0.96682	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	.	.	.	5.65	4.77	0.60923	.	0.000000	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8973	0.70654	0.0:0.931:0.0:0.069	.	.	.	.	X	229	.	.	S	+	2	0	PPP1R9A	94378047	0.997000	0.39634	1.000000	0.80357	0.665000	0.39181	3.581000	0.53914	1.542000	0.49330	-0.237000	0.12165	TCA		PASS	0.433	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		13	52	13	52	---	---	---	---
ASB4	51666	broad.mit.edu	37	7	95157214	95157214	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:95157214T>A	ENST00000325885.5	+	3	648	c.577T>A	c.(577-579)Ttc>Atc	p.F193I	ASB4_ENST00000428113.1_Missense_Mutation_p.F193I	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	193					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.F193I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GCTGGTGGCCTTCTACGTGGA	0.597											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(577-579)TTC>ATC		ankyrin repeat and SOCS box-containing protein 4							80.0	67.0	72.0					7																	95157214		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95157214T>A	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.577T>A	7.37:g.95157214T>A	ENSP00000321388:p.Phe193Ile		OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_uc003unx.2_Missense_Mutation_p.F193I	p.F193I	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	577	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		193			ANK 4.		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.577T>A	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.602458	0.66445	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.42900	0.96;0.96	4.87	4.87	0.63330	Ankyrin repeat-containing domain (3);	0.177687	0.48286	D	0.000189	T	0.41811	0.1175	N	0.17723	0.515	0.54753	D	0.999988	B;D	0.53619	0.425;0.961	B;P	0.54629	0.229;0.757	T	0.24404	-1.0161	10	0.32370	T	0.25	-32.5255	15.1719	0.72881	0.0:0.0:0.0:1.0	.	193;193	Q9Y574;Q14D68	ASB4_HUMAN;.	I	193	ENSP00000321388:F193I;ENSP00000397070:F193I	ENSP00000321388:F193I	F	+	1	0	ASB4	94995150	0.996000	0.38824	1.000000	0.80357	0.836000	0.47400	2.498000	0.45363	2.132000	0.65825	0.379000	0.24179	TTC		PASS	0.597	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		15	93	15	93	---	---	---	---
ASB4	51666	broad.mit.edu	37	7	95166990	95166990	+	Nonsense_Mutation	SNP	C	C	A	rs368628140		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:95166990C>A	ENST00000325885.5	+	5	1271	c.1200C>A	c.(1198-1200)tgC>tgA	p.C400*		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	400	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.C400*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ACAACAGATGCCATAGAGCAA	0.403																																						uc011kij.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1198-1200)TGC>TGA		ankyrin repeat and SOCS box-containing protein 4							193.0	177.0	183.0					7																	95166990		2203	4300	6503	SO:0001587	stop_gained	51666				intracellular signal transduction			g.chr7:95166990C>A	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.1200C>A	7.37:g.95166990C>A	ENSP00000321388:p.Cys400*						p.C400*	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		5	1200	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		400			SOCS box.		A4D1H6|O14586|Q14D68|Q8TBT2	Nonsense_Mutation	SNP	ENST00000325885.5	37	c.1200C>A	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793033	0.50102	.	.	ENSG00000005981	ENST00000325885	.	.	.	4.96	2.05	0.26809	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.2528	7.0274	0.24948	0.0:0.6108:0.0:0.3892	.	.	.	.	X	400	.	ENSP00000321388:C400X	C	+	3	2	ASB4	95004926	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	1.105000	0.31086	0.185000	0.20105	-0.216000	0.12614	TGC		PASS	0.403	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		36	194	36	194	---	---	---	---
SMURF1	57154	broad.mit.edu	37	7	98645447	98645447	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:98645447G>C	ENST00000361125.1	-	11	1409	c.1090C>G	c.(1090-1092)Ctg>Gtg	p.L364V	AC004893.11_ENST00000482799.2_RNA|AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.L338V	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	364					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)	p.L364V(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TCGTCCTCCAGAGAGCCCTCA	0.582																																						uc003upu.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(1090-1092)CTG>GTG		Smad ubiquitination regulatory factor 1 isoform							121.0	127.0	125.0					7																	98645447		2203	4300	6503	SO:0001583	missense	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98645447G>C	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1090C>G	7.37:g.98645447G>C	ENSP00000354621:p.Leu364Val					SMURF1_uc003upv.1_Missense_Mutation_p.L338V|SMURF1_uc003upt.2_Missense_Mutation_p.L338V	p.L364V	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		11	1410	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		364					A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	ENST00000361125.1	37	c.1090C>G	CCDS34690.1	.	.	.	.	.	.	.	.	.	.	G	1.087	-0.665092	0.03428	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.44881	1.26;0.91	5.44	-6.67	0.01783	.	0.680101	0.15592	N	0.254351	T	0.17280	0.0415	N	0.22421	0.69	0.09310	N	0.999997	B;B;B	0.14012	0.009;0.0;0.001	B;B;B	0.08055	0.003;0.0;0.001	T	0.10019	-1.0648	10	0.25751	T	0.34	.	1.9994	0.03463	0.3949:0.2513:0.2195:0.1342	.	338;364;338	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	V	338;364	ENSP00000355326:L338V;ENSP00000354621:L364V	ENSP00000354621:L364V	L	-	1	2	SMURF1	98483383	0.000000	0.05858	0.001000	0.08648	0.378000	0.30076	-0.675000	0.05227	-0.989000	0.03485	-1.252000	0.01501	CTG		PASS	0.582	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2	NM_020429		36	484	36	484	---	---	---	---
NAPEPLD	222236	broad.mit.edu	37	7	102769078	102769078	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:102769078C>G	ENST00000417955.1	-	2	300	c.146G>C	c.(145-147)aGa>aCa	p.R49T	NAPEPLD_ENST00000455523.2_Missense_Mutation_p.R122T|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.R49T|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.R49T|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.R49T			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	49					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)	p.R49T(1)		endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TTCTTCTAGTCTATAATCCAG	0.383																																						uc003vbc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(145-147)AGA>ACA		N-acyl phosphatidylethanolamine phospholipase D							104.0	97.0	99.0					7																	102769078		2203	4300	6503	SO:0001583	missense	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102769078C>G	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.146G>C	7.37:g.102769078C>G	ENSP00000407112:p.Arg49Thr					NAPEPLD_uc003vbd.2_Missense_Mutation_p.R49T|NAPEPLD_uc011klj.1_Missense_Mutation_p.R122T|NAPEPLD_uc003vbe.2_RNA|NAPEPLD_uc003vbf.2_Missense_Mutation_p.R49T	p.R49T	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN			2	474	-			49					Q5CZ87|Q769K1	Missense_Mutation	SNP	ENST00000417955.1	37	c.146G>C	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723149	0.89298	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523;ENST00000418294	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	L	0.38175	1.15	0.58432	D	0.999994	D;D;D	0.89917	0.999;1.0;0.995	D;D;P	0.91635	0.994;0.999;0.829	T	0.82426	-0.0463	10	0.30854	T	0.27	-17.3954	20.8598	0.99761	0.0:1.0:0.0:0.0	.	122;49;49	B4E3B0;C9JGB1;Q6IQ20	.;.;NAPEP_HUMAN	T	49;49;49;49;122;49	ENSP00000340093:R49T;ENSP00000407112:R49T;ENSP00000419188:R49T;ENSP00000392775:R49T;ENSP00000414364:R122T;ENSP00000404391:R49T	ENSP00000340093:R49T	R	-	2	0	NAPEPLD	102556314	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.463000	0.73530	2.937000	0.99478	0.650000	0.86243	AGA		PASS	0.383	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990		27	111	27	111	---	---	---	---
FSCN3	29999	broad.mit.edu	37	7	127235360	127235360	+	Splice_Site	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:127235360G>A	ENST00000265825.5	+	2	363		c.e2-1		FSCN3_ENST00000478328.1_Splice_Site|FSCN3_ENST00000420086.2_Splice_Site|GCC1_ENST00000497650.1_5'Flank	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.?(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GATGCCTCCAGACCTGGGAGA	0.557																																						uc003vmd.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e2-1		fascin 3							75.0	68.0	71.0					7																	127235360		2203	4300	6503	SO:0001630	splice_region_variant	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235360G>A		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.145-1G>A	7.37:g.127235360G>A						FSCN3_uc003vmc.1_Splice_Site_p.T4_splice|FSCN3_uc011kog.1_Splice_Site|FSCN3_uc011koh.1_Splice_Site|FSCN3_uc010llc.1_Splice_Site_p.T49_splice	p.T49_splice	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN			2	364	+								A4D0Z2|A6NLL7|B2RA62|B4DU68	Splice_Site	SNP	ENST00000265825.5	37	c.145_splice	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140652	0.56936	.	.	ENSG00000106328	ENST00000265825	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.22	0.73303	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FSCN3	127022596	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.234000	0.65343	2.735000	0.93741	0.655000	0.94253	.		PASS	0.557	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369	Intron	18	142	18	142	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128478704	128478704	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:128478704C>T	ENST00000325888.8	+	8	1519	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	FLNC_ENST00000346177.6_Missense_Mutation_p.R420W	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	420					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.R420W(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCCACAGGGCCGGCGGGACAC	0.647																																						uc003vnz.3																			1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(1258-1260)CGG>TGG		gamma filamin isoform a							72.0	87.0	82.0					7																	128478704		2148	4230	6378	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478704C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1258C>T	7.37:g.128478704C>T	ENSP00000327145:p.Arg420Trp					FLNC_uc003voa.3_Missense_Mutation_p.R420W	p.R420W	NM_001458	NP_001449	Q14315	FLNC_HUMAN			8	1467	+			420			Filamin 2.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1258C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331263	0.81690	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85484	-1.99;-1.99	5.43	4.53	0.55603	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.217403	0.38663	N	0.001605	D	0.90484	0.7019	M	0.83223	2.63	0.34330	D	0.687527	D;D	0.67145	0.996;0.994	P;P	0.58820	0.742;0.846	D	0.93953	0.7233	10	0.87932	D	0	.	10.6747	0.45778	0.1481:0.7087:0.1431:0.0	.	420;420	Q14315-2;Q14315	.;FLNC_HUMAN	W	420	ENSP00000327145:R420W;ENSP00000344002:R420W	ENSP00000327145:R420W	R	+	1	2	FLNC	128265940	0.978000	0.34361	0.994000	0.49952	0.991000	0.79684	1.387000	0.34430	1.237000	0.43756	0.561000	0.74099	CGG		PASS	0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			63	224	63	224	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131825488	131825488	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:131825488A>C	ENST00000359827.3	-	30	6270	c.5308T>G	c.(5308-5310)Tgc>Ggc	p.C1770G	PLXNA4_ENST00000321063.4_Missense_Mutation_p.C1770G			Q9HCM2	PLXA4_HUMAN	plexin A4	1770					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.C1770G(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACAGAGAGGCAGGCGTCTGTG	0.557																																						uc003vra.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5308-5310)TGC>GGC		plexin A4 isoform 1							117.0	126.0	123.0					7																	131825488		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131825488A>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5308T>G	7.37:g.131825488A>C	ENSP00000352882:p.Cys1770Gly					PLXNA4_uc003vqz.3_Missense_Mutation_p.C55G	p.C1770G	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			30	5537	-			1770			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.5308T>G	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450617	0.84101	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.16196	2.36;2.36	5.11	5.11	0.69529	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54931	-0.8219	10	0.54805	T	0.06	.	14.9042	0.70706	1.0:0.0:0.0:0.0	.	1770	Q9HCM2	PLXA4_HUMAN	G	1770	ENSP00000323194:C1770G;ENSP00000352882:C1770G	ENSP00000323194:C1770G	C	-	1	0	PLXNA4	131476028	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.225000	0.95219	1.918000	0.55548	0.482000	0.46254	TGC		PASS	0.557	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		31	116	31	116	---	---	---	---
SLC13A4	26266	broad.mit.edu	37	7	135378967	135378967	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:135378967G>A	ENST00000354042.4	-	10	1725	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	346					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)	p.L346L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TTCTTGCTCAGAGAGCAGGTC	0.388																																						uc003vta.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1036-1038)CTG>TTG		solute carrier family 13 (sodium/sulfate							168.0	159.0	162.0					7																	135378967		2203	4300	6503	SO:0001819	synonymous_variant	26266					integral to plasma membrane	sodium:sulfate symporter activity	g.chr7:135378967G>A	AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"""Solute carriers"""	15827	protein-coding gene	gene with protein product	"""sulphate transporter 1"""	604309	"""solute carrier family 13 (sodium/sulphate symporters), member 4"""			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1036C>T	7.37:g.135378967G>A						SLC13A4_uc003vtb.2_Silent_p.L347L	p.L346L	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN			10	1725	-			346					A4D1Q4|Q8N631	Silent	SNP	ENST00000354042.4	37	c.1036C>T	CCDS5840.1																																																																																				PASS	0.388	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340558.1	NM_012450		33	181	33	181	---	---	---	---
PTN	5764	broad.mit.edu	37	7	136939655	136939655	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:136939655G>A	ENST00000348225.2	-	2	493	c.66C>T	c.(64-66)ttC>ttT	p.F22F	PTN_ENST00000393083.2_Silent_p.F22F	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	22					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)	p.F22F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CTGCCAGTATGAAAATGAATG	0.458																																						uc003vtq.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(64-66)TTC>TTT		pleiotrophin							82.0	80.0	81.0					7																	136939655		2203	4300	6503	SO:0001819	synonymous_variant	5764				nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	g.chr7:136939655G>A	M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.66C>T	7.37:g.136939655G>A						PTN_uc010lmx.2_Silent_p.F22F|PTN_uc003vtr.1_Silent_p.F22F	p.F22F	NM_002825	NP_002816	P21246	PTN_HUMAN			2	429	-			22					Q5U0B0|Q6ICQ5|Q9UCC6	Silent	SNP	ENST00000348225.2	37	c.66C>T	CCDS5844.1																																																																																				PASS	0.458	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341339.1	NM_002825		12	41	12	41	---	---	---	---
PRSS1	5644	broad.mit.edu	37	7	142459835	142459835	+	Silent	SNP	G	G	A	rs369013081	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:142459835G>A	ENST00000311737.7	+	3	417	c.411G>A	c.(409-411)acG>acA	p.T137T	PRSS1_ENST00000486171.1_Silent_p.T151T	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	137	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		T -> M (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.T137T(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CCACTGGCACGAAGTGCCTCA	0.552																																						uc003wak.2																			2	Substitution - coding silent(2)	p.T137M(1)	lung(1)|prostate(1)	large_intestine(1)|central_nervous_system(1)	2						c.(409-411)ACG>ACA		protease, serine, 1 preproprotein		G		0,4406		0,0,2203	62.0	68.0	66.0		411	0.3	0.4	7		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PRSS1	NM_002769.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		137/248	142459835	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459835G>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.411G>A	7.37:g.142459835G>A						uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.T77T	p.T137T	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		3	428	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	137		T -> M (in a colorectal cancer sample; somatic mutation).	Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	c.411G>A	CCDS5872.1																																																																																				PASS	0.552	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			16	92	16	92	---	---	---	---
OR9A2	135924	broad.mit.edu	37	7	142723727	142723727	+	Missense_Mutation	SNP	G	G	T	rs143573729	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:142723727G>T	ENST00000350513.2	-	1	555	c.493C>A	c.(493-495)Cgc>Agc	p.R165S		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165S(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTTGATTTGCGGAAGGTAAAC	0.398																																						uc003wcc.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(493-495)CGC>AGC		olfactory receptor, family 9, subfamily A,							81.0	78.0	79.0					7																	142723727		2203	4300	6503	SO:0001583	missense	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723727G>T		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.493C>A	7.37:g.142723727G>T	ENSP00000316518:p.Arg165Ser						p.R165S	NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN			1	493	-	Melanoma(164;0.059)		165			Extracellular (Potential).		B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	ENST00000350513.2	37	c.493C>A	CCDS34767.1	.	.	.	.	.	.	.	.	.	.	G	7.503	0.653143	0.14580	.	.	ENSG00000179468	ENST00000350513	T	0.00048	8.82	4.53	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	U	0.000513	T	0.00109	0.0003	N	0.12182	0.205	0.21878	N	0.999494	B	0.23249	0.082	B	0.28385	0.089	T	0.23368	-1.0190	10	0.87932	D	0	-15.2416	8.3405	0.32241	0.9037:0.0:0.0963:0.0	.	165	Q8NGT5	OR9A2_HUMAN	S	165	ENSP00000316518:R165S	ENSP00000316518:R165S	R	-	1	0	OR9A2	142433849	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	4.471000	0.60182	0.870000	0.35726	-0.340000	0.08031	CGC		PASS	0.398	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			36	184	36	184	---	---	---	---
OR2A2	442361	broad.mit.edu	37	7	143806807	143806807	+	Silent	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:143806807C>A	ENST00000408979.2	+	1	201	c.132C>A	c.(130-132)atC>atA	p.I44I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I44I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ATGGGGTCATCTTTGGGATTA	0.507																																						uc011ktz.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(130-132)ATC>ATA		olfactory receptor, family 2, subfamily A,							190.0	189.0	189.0					7																	143806807		2058	4228	6286	SO:0001819	synonymous_variant	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806807C>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.132C>A	7.37:g.143806807C>A							p.I44I	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	132	+	Melanoma(164;0.0783)		44			Helical; Name=1; (Potential).		B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	c.132C>A	CCDS43671.1																																																																																				PASS	0.507	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			79	281	79	281	---	---	---	---
ZNF467	168544	broad.mit.edu	37	7	149461956	149461956	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:149461956G>C	ENST00000302017.3	-	5	2048	c.1635C>G	c.(1633-1635)tgC>tgG	p.C545W	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	545					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C545W(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCACTGCGGGCAGGAGAAGG	0.711																																						uc003wgd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1633-1635)TGC>TGG		zinc finger protein 467																																				SO:0001583	missense	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149461956G>C	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1635C>G	7.37:g.149461956G>C	ENSP00000304769:p.Cys545Trp					ZNF467_uc003wgc.2_Intron	p.C545W	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	1776	-	Melanoma(164;0.165)|Ovarian(565;0.177)		545			C2H2-type 12.			Missense_Mutation	SNP	ENST00000302017.3	37	c.1635C>G	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805153	0.50315	.	.	ENSG00000181444	ENST00000302017	D	0.85258	-1.96	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.497754	0.14887	U	0.292606	D	0.94742	0.8303	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94651	0.7839	10	0.87932	D	0	-10.1061	9.6575	0.39934	0.0977:0.0:0.9023:0.0	.	545	Q7Z7K2	ZN467_HUMAN	W	545	ENSP00000304769:C545W	ENSP00000304769:C545W	C	-	3	2	ZNF467	149092889	0.956000	0.32656	0.995000	0.50966	0.768000	0.43524	1.530000	0.36007	2.072000	0.62099	0.462000	0.41574	TGC		PASS	0.711	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		11	59	11	59	---	---	---	---
GIMAP6	474344	broad.mit.edu	37	7	150325214	150325214	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:150325214T>A	ENST00000328902.5	-	3	688	c.472A>T	c.(472-474)Acc>Tcc	p.T158S	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	158	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)	p.T158S(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCAGGATGGTGTGACCCAGA	0.622																																						uc003whn.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(472-474)ACC>TCC		GTPase, IMAP family member 6							97.0	96.0	97.0					7																	150325214		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150325214T>A	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.472A>T	7.37:g.150325214T>A	ENSP00000330374:p.Thr158Ser					GIMAP6_uc003whm.2_Missense_Mutation_p.T78S	p.T158S	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	896	-			158					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.472A>T	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973584	0.53720	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.35048	1.33	4.07	4.07	0.47477	AIG1 (1);	0.119514	0.56097	D	0.000036	T	0.48205	0.1487	L	0.45581	1.43	0.80722	D	1	D;D	0.89917	0.984;1.0	D;D	0.91635	0.958;0.999	T	0.37150	-0.9718	10	0.34782	T	0.22	.	9.3393	0.38069	0.0:0.0:0.0:1.0	.	158;78	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	S	158;219	ENSP00000330374:T158S	ENSP00000330374:T158S	T	-	1	0	GIMAP6	149956147	1.000000	0.71417	0.810000	0.32431	0.054000	0.15201	4.039000	0.57325	1.725000	0.51514	0.459000	0.35465	ACC		PASS	0.622	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		60	318	60	318	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151970887	151970887	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:151970887C>G	ENST00000262189.6	-	7	1133	c.915G>C	c.(913-915)atG>atC	p.M305I	KMT2C_ENST00000355193.2_Missense_Mutation_p.M305I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	305					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M305I(4)									GATAATGATACATCTGGGTAC	0.433																																						uc003wla.2										N							medulloblastoma		4	Substitution - Missense(4)		lung(4)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(913-915)ATG>ATC		myeloid/lymphoid or mixed-lineage leukemia 3							172.0	161.0	165.0					7																	151970887		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151970887C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.915G>C	7.37:g.151970887C>G	ENSP00000262189:p.Met305Ile						p.M305I	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	7	1134	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	305					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.915G>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372569	0.24857	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.70282	-0.47;-0.47	4.87	-0.275	0.12906	Zinc finger, PHD-type (1);	0.355351	0.23135	N	0.051522	T	0.41259	0.1151	N	0.11789	0.175	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.04078	-1.0979	10	0.18276	T	0.48	.	2.0738	0.03619	0.1241:0.4774:0.1206:0.2778	.	305	Q8NEZ4	MLL3_HUMAN	I	305	ENSP00000262189:M305I;ENSP00000347325:M305I	ENSP00000262189:M305I	M	-	3	0	MLL3	151601820	0.990000	0.36364	0.897000	0.35233	0.998000	0.95712	0.738000	0.26158	-0.281000	0.09141	0.650000	0.86243	ATG		PASS	0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			12	325	12	325	---	---	---	---
HTR5A	3361	broad.mit.edu	37	7	154862633	154862633	+	Silent	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:154862633C>A	ENST00000287907.2	+	1	600	c.24C>A	c.(22-24)acC>acA	p.T8T	HTR5A-AS1_ENST00000493904.1_Intron|HTR5A-AS1_ENST00000543018.1_Intron|HTR5A-AS1_ENST00000395731.2_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	8					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.T8T(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TGAACCTAACCTCCTTTTCCC	0.612																																						uc003wlu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(22-24)ACC>ACA		5-hydroxytryptamine receptor 5A							119.0	126.0	124.0					7																	154862633		2203	4300	6503	SO:0001819	synonymous_variant	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862633C>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.24C>A	7.37:g.154862633C>A						uc011kvt.1_Intron|uc003wlt.2_Intron	p.T8T	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	88	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	8			Extracellular (By similarity).		Q2M2D2	Silent	SNP	ENST00000287907.2	37	c.24C>A	CCDS5936.1																																																																																				PASS	0.612	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		44	219	44	219	---	---	---	---
MNX1	3110	broad.mit.edu	37	7	156799191	156799191	+	Silent	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:156799191G>C	ENST00000252971.6	-	2	1134	c.834C>G	c.(832-834)ctC>ctG	p.L278L	MNX1_ENST00000543409.1_Silent_p.L66L|MNX1_ENST00000469500.1_Intron|MNX1-AS2_ENST00000429228.1_RNA	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	278					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L278L(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGTGAGCATGAGCGAGGTGG	0.667																																						uc003wnd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(832-834)CTC>CTG		motor neuron and pancreas homeobox 1 isoform 1							39.0	39.0	39.0					7																	156799191		2202	4300	6502	SO:0001819	synonymous_variant	3110	Currarino_syndrome			humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:156799191G>C	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"""Homeoboxes / ANTP class : HOXL subclass"""	4979	protein-coding gene	gene with protein product		142994	"""homeo box HB9"", ""homeobox HB9"""	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.834C>G	7.37:g.156799191G>C						MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Silent_p.L71L|MNX1_uc003wnc.1_Silent_p.L66L|MNX1_uc010lqr.1_Intron	p.L278L	NM_005515	NP_005506	P50219	MNX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	1137	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	278			Homeobox.		F5H401|Q9Y648	Silent	SNP	ENST00000252971.6	37	c.834C>G	CCDS34788.1																																																																																				PASS	0.667	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			3	39	3	39	---	---	---	---
VIPR2	7434	broad.mit.edu	37	7	158902523	158902523	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr7:158902523C>T	ENST00000262178.2	-	3	424	c.239G>A	c.(238-240)aGc>aAc	p.S80N	VIPR2_ENST00000402066.1_Missense_Mutation_p.S221N	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	80					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.S80N(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GTAAAAATTGCTGAAGACTTT	0.552																																					Pancreas(154;1876 1931 2329 17914 20079)	uc003woh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(238-240)AGC>AAC		vasoactive intestinal peptide receptor 2							112.0	99.0	104.0					7																	158902523		2203	4300	6503	SO:0001583	missense	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158902523C>T	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.239G>A	7.37:g.158902523C>T	ENSP00000262178:p.Ser80Asn					VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	p.S80N	NM_003382	NP_003373	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	3	425	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	80			Extracellular (Potential).		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.239G>A	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344038	0.41498	.	.	ENSG00000106018	ENST00000262178;ENST00000402066	T;T	0.53206	0.63;0.63	5.21	5.21	0.72293	GPCR, family 2, extracellular hormone receptor domain (3);	0.093779	0.46442	D	0.000281	T	0.51669	0.1688	L	0.49126	1.545	0.80722	D	1	P	0.51147	0.942	P	0.50270	0.636	T	0.48536	-0.9027	9	.	.	.	.	14.2627	0.66094	0.0:1.0:0.0:0.0	.	80	P41587	VIPR2_HUMAN	N	80;221	ENSP00000262178:S80N;ENSP00000384497:S221N	.	S	-	2	0	VIPR2	158595284	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.109000	0.41863	2.409000	0.81822	0.591000	0.81541	AGC		PASS	0.552	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		34	151	34	151	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3224707	3224707	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:3224707C>T	ENST00000520002.1	-	21	3520	c.2965G>A	c.(2965-2967)Gag>Aag	p.E989K	CSMD1_ENST00000537824.1_Missense_Mutation_p.E988K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E988K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E989K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E989K|CSMD1_ENST00000539096.1_Missense_Mutation_p.E988K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E989K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	989	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.E988K(1)|p.E717K(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTCCATCCTCTGTGATCAGT	0.512																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(2965-2967)GAG>AAG		CUB and Sushi multiple domains 1 precursor							55.0	55.0	55.0					8																	3224707		1861	4104	5965	SO:0001583	missense	64478					integral to membrane		g.chr8:3224707C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2965G>A	8.37:g.3224707C>T	ENSP00000430733:p.Glu989Lys					CSMD1_uc011kwj.1_Missense_Mutation_p.E381K|CSMD1_uc003wqe.2_Missense_Mutation_p.E145K	p.E989K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	20	3355	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	989			Extracellular (Potential).|CUB 6.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.2965G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.213374|4.213374	0.79352|0.79352	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.29142|.	1.58;1.58;1.58;1.58;1.58|.	5.43|5.43	5.43|5.43	0.79202|0.79202	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71762|0.71762	0.3378|0.3378	L|L	0.56124|0.56124	1.755|1.755	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.997;1.0;1.0|.	D;D;D|.	0.97110|.	0.994;1.0;0.999|.	T|T	0.68614|0.68614	-0.5362|-0.5362	10|5	0.49607|.	T|.	0.09|.	.|.	19.2388|19.2388	0.93873|0.93873	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	989;989;989|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	K|K	989;989;851;988;988;988|468	ENSP00000383047:E989K;ENSP00000430733:E989K;ENSP00000441462:E988K;ENSP00000446243:E988K;ENSP00000441675:E988K|.	ENSP00000320445:E851K|.	E|R	-|-	1|2	0|0	CSMD1|CSMD1	3212114|3212114	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.103000|0.103000	0.19146|0.19146	7.635000|7.635000	0.83286|0.83286	2.546000|2.546000	0.85860|0.85860	0.557000|0.557000	0.71058|0.71058	GAG|AGA		PASS	0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	44	4	44	---	---	---	---
ERI1	90459	broad.mit.edu	37	8	8873888	8873888	+	Missense_Mutation	SNP	C	C	G	rs139484248	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:8873888C>G	ENST00000523898.1	+	5	1234	c.555C>G	c.(553-555)ttC>ttG	p.F185L	ERI1_ENST00000519292.1_Missense_Mutation_p.F185L|ERI1_ENST00000520332.1_3'UTR|ERI1_ENST00000250263.7_Missense_Mutation_p.F185L			Q8IV48	ERI1_HUMAN	exoribonuclease 1	185	Exonuclease.				gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)	p.F185L(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						TGTCTGATTTCTGCATCAGTC	0.328																																						uc011kwu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)TTC>TTG		three prime histone mRNA exonuclease 1	Adenosine monophosphate(DB00131)						154.0	152.0	153.0					8																	8873888		2203	4300	6503	SO:0001583	missense	90459				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding	g.chr8:8873888C>G	BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"""Enhanced RNAi three prime mRNA exonucleases"""	23994	protein-coding gene	gene with protein product	"""exoribonuclease 1"", ""enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"""	608739	"""three prime histone mRNA exonuclease 1"""	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.555C>G	8.37:g.8873888C>G	ENSP00000429615:p.Phe185Leu					ERI1_uc003wsk.2_Missense_Mutation_p.F185L	p.F185L	NM_153332	NP_699163	Q8IV48	ERI1_HUMAN			4	815	+			185			Exonuclease.		A8K4U7|Q9NSX3	Missense_Mutation	SNP	ENST00000523898.1	37	c.555C>G	CCDS5972.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180112	0.57800	.	.	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	T;T;T	0.22539	1.95;1.95;1.95	5.67	2.93	0.34026	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.51160	0.1658	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.56335	-0.7996	10	0.87932	D	0	-3.8101	8.1191	0.30961	0.0:0.6255:0.0:0.3745	.	185	Q8IV48	ERI1_HUMAN	L	185	ENSP00000429615:F185L;ENSP00000250263:F185L;ENSP00000430190:F185L	ENSP00000250263:F185L	F	+	3	2	ERI1	8911298	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	2.201000	0.42734	0.761000	0.33130	-0.251000	0.11542	TTC		PASS	0.328	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	NM_153332		15	370	15	370	---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9623228	9623228	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:9623228G>C	ENST00000310430.6	+	24	3500	c.3474G>C	c.(3472-3474)ttG>ttC	p.L1158F	TNKS_ENST00000518281.1_Missense_Mutation_p.L921F	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1158	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.L1158F(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ACAAGAAGTTGAGGGAGCGGT	0.413																																						uc003wss.2																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|kidney(1)	7						c.(3472-3474)TTG>TTC		tankyrase, TRF1-interacting ankyrin-related							106.0	97.0	100.0					8																	9623228		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9623228G>C	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3474G>C	8.37:g.9623228G>C	ENSP00000311579:p.Leu1158Phe					TNKS_uc011kww.1_Missense_Mutation_p.L921F	p.L1158F	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	24	3479	+			1158			PARP catalytic.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3474G>C	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289028	0.80914	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.16073	2.37;2.37	6.0	4.21	0.49690	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.64402	D	0.000001	T	0.48466	0.1501	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57118	-0.7866	10	0.87932	D	0	.	8.7295	0.34489	0.1331:0.1228:0.7441:0.0	.	1158	O95271	TNKS1_HUMAN	F	1158;921	ENSP00000311579:L1158F;ENSP00000429890:L921F	ENSP00000311579:L1158F	L	+	3	2	TNKS	9660638	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.251000	0.51453	1.557000	0.49525	0.655000	0.94253	TTG		PASS	0.413	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		12	123	12	123	---	---	---	---
BLK	640	broad.mit.edu	37	8	11415529	11415529	+	Silent	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:11415529G>C	ENST00000259089.4	+	10	1603	c.1011G>C	c.(1009-1011)ctG>ctC	p.L337L	BLK_ENST00000529894.1_Silent_p.L266L|RP11-148O21.2_ENST00000533322.1_RNA|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.L337L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCCCAAGGCTGATTGACATGT	0.542																																						uc003wty.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|stomach(1)|ovary(1)	3						c.(1009-1011)CTG>CTC		B lymphoid tyrosine kinase							140.0	106.0	117.0					8																	11415529		2203	4300	6503	SO:0001819	synonymous_variant	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11415529G>C	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.1011G>C	8.37:g.11415529G>C						BLK_uc003wtz.2_Silent_p.L266L|BLK_uc003wua.2_5'Flank	p.L337L	NM_001715	NP_001706	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	10	1592	+			337			Protein kinase.		Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	c.1011G>C	CCDS5982.1																																																																																				PASS	0.542	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			46	159	46	159	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12960310	12960310	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:12960310G>C	ENST00000276297.4	-	8	1964	c.1555C>G	c.(1555-1557)Cat>Gat	p.H519D	DLC1_ENST00000512044.2_Missense_Mutation_p.H116D|DLC1_ENST00000358919.2_Missense_Mutation_p.H82D|DLC1_ENST00000520226.1_Missense_Mutation_p.H8D	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	519					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.H519D(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGTTTCCGATGAGGACTAATT	0.368																																						uc003wwm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(1555-1557)CAT>GAT		deleted in liver cancer 1 isoform 1							178.0	173.0	175.0					8																	12960310		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12960310G>C	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1555C>G	8.37:g.12960310G>C	ENSP00000276297:p.His519Asp					DLC1_uc003wwk.1_Missense_Mutation_p.H82D|DLC1_uc003wwl.1_Missense_Mutation_p.H116D|DLC1_uc011kxx.1_Missense_Mutation_p.H8D	p.H519D	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			8	1999	-			519					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.1555C>G	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540763	0.45280	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.40756	1.02;1.02;1.02;3.46	5.85	4.97	0.65823	.	0.320112	0.37304	N	0.002143	T	0.25005	0.0607	N	0.08118	0	0.80722	D	1	B;B;B	0.28258	0.205;0.015;0.115	B;B;B	0.31946	0.021;0.041;0.138	T	0.10941	-1.0608	10	0.44086	T	0.13	.	10.2143	0.43160	0.068:0.0:0.7969:0.1351	.	519;116;82	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	D	519;82;116;8	ENSP00000276297:H519D;ENSP00000351797:H82D;ENSP00000422595:H116D;ENSP00000428028:H8D	ENSP00000276297:H519D	H	-	1	0	DLC1	13004681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.969000	0.56816	1.630000	0.50440	0.655000	0.94253	CAT		PASS	0.368	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		51	309	51	309	---	---	---	---
NAT2	10	broad.mit.edu	37	8	18257600	18257600	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:18257600G>T	ENST00000286479.3	+	2	194	c.87G>T	c.(85-87)gaG>gaT	p.E29D	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	29					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)	p.E29D(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	ACATTCTTGAGCACCAGATCC	0.408									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc003wyw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(85-87)GAG>GAT		N-acetyltransferase 2							129.0	132.0	131.0					8																	18257600		2203	4300	6503	SO:0001583	missense	10	Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18257600G>T	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.87G>T	8.37:g.18257600G>T	ENSP00000286479:p.Glu29Asp						p.E29D	NM_000015	NP_000006	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	194	+			29					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	c.87G>T	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474582	0.26511	.	.	ENSG00000156006	ENST00000286479	T	0.01705	4.68	3.02	0.0584	0.14327	.	0.360357	0.27966	N	0.017122	T	0.02012	0.0063	L	0.52573	1.65	0.80722	D	1	B	0.24721	0.11	B	0.26770	0.073	T	0.51624	-0.8682	10	0.66056	D	0.02	.	5.2583	0.15559	0.4562:0.0:0.5438:0.0	.	29	A4Z6T7	.	D	29	ENSP00000286479:E29D	ENSP00000286479:E29D	E	+	3	2	NAT2	18301880	0.993000	0.37304	0.940000	0.37924	0.738000	0.42128	0.629000	0.24538	-0.012000	0.14223	-0.424000	0.05967	GAG		PASS	0.408	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		89	241	89	241	---	---	---	---
LPL	4023	broad.mit.edu	37	8	19805770	19805770	+	Silent	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:19805770C>G	ENST00000311322.8	+	2	638	c.168C>G	c.(166-168)ctC>ctG	p.L56L	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	56					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.L56L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CTTGCCACCTCATTCCCGGAG	0.478																																						uc003wzk.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(166-168)CTC>CTG		lipoprotein lipase precursor	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						140.0	126.0	131.0					8																	19805770		2203	4300	6503	SO:0001819	synonymous_variant	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19805770C>G		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.168C>G	8.37:g.19805770C>G							p.L56L	NM_000237	NP_000228	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	2	538	+			56					B2R5T9|Q16282|Q16283|Q96FC4	Silent	SNP	ENST00000311322.8	37	c.168C>G	CCDS6012.1																																																																																				PASS	0.478	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			40	317	40	317	---	---	---	---
ADAMDEC1	27299	broad.mit.edu	37	8	24255215	24255215	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:24255215C>A	ENST00000256412.4	+	7	867	c.647C>A	c.(646-648)gCa>gAa	p.A216E	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.A137E|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.A137E	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	216					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A216E(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTTCTTCGGGCACAGAAATAC	0.363																																					Ovarian(147;687 1849 3699 25981 31337)	uc003xdz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(646-648)GCA>GAA		ADAM-like, decysin 1 isoform 1							58.0	58.0	58.0					8																	24255215		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24255215C>A	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.647C>A	8.37:g.24255215C>A	ENSP00000256412:p.Ala216Glu					ADAMDEC1_uc010lub.2_Missense_Mutation_p.A137E|ADAMDEC1_uc011lab.1_Missense_Mutation_p.A137E	p.A216E	NM_014479	NP_055294	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	7	867	+		Prostate(55;0.0181)	216					B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.647C>A	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.724637	0.00694	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.02395	4.31;4.32;4.32	5.66	0.199	0.15175	Metallopeptidase, catalytic domain (1);	0.340801	0.25294	N	0.031713	T	0.01489	0.0048	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.49051	-0.8979	10	0.08599	T	0.76	-7.8713	11.2639	0.49099	0.1353:0.3093:0.5555:0.0	.	216	O15204	ADEC1_HUMAN	E	216;137;137	ENSP00000256412:A216E;ENSP00000442592:A137E;ENSP00000428993:A137E	ENSP00000256412:A216E	A	+	2	0	ADAMDEC1	24311160	0.003000	0.15002	0.001000	0.08648	0.131000	0.20780	0.272000	0.18644	0.021000	0.15133	0.650000	0.86243	GCA		PASS	0.363	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		27	87	27	87	---	---	---	---
NEFM	4741	broad.mit.edu	37	8	24771781	24771781	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:24771781G>T	ENST00000221166.5	+	1	1257	c.475G>T	c.(475-477)Gcc>Tcc	p.A159S	RP11-624C23.1_ENST00000519689.1_RNA|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.A159S|NEFM_ENST00000518131.1_Missense_Mutation_p.A159S|NEFM_ENST00000433454.2_5'Flank			P07197	NFM_HUMAN	neurofilament, medium polypeptide	159	Coil 1B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)	p.A159S(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGAGCTGCGCGCCACCCTGGA	0.642																																						uc003xed.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(475-477)GCC>TCC		neurofilament, medium polypeptide 150kDa isoform																																				SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24771781G>T	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.475G>T	8.37:g.24771781G>T	ENSP00000221166:p.Ala159Ser					NEFM_uc011lac.1_Missense_Mutation_p.A159S|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	p.A159S	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	508	+		Prostate(55;0.157)	159			Rod.|Coil 1B.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.475G>T	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276816	0.23307	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.82167	-1.58;-1.58;-1.58	4.7	3.66	0.41972	Filament (1);	0.313006	0.22426	N	0.060210	T	0.67420	0.2891	N	0.05158	-0.105	0.41829	D	0.990066	B;P	0.34629	0.408;0.46	B;B	0.38755	0.281;0.118	T	0.62789	-0.6780	10	0.26408	T	0.33	.	10.8598	0.46821	0.116:0.0:0.884:0.0	.	159;159	E7EMV2;P07197	.;NFM_HUMAN	S	159	ENSP00000221166:A159S;ENSP00000427872:A159S;ENSP00000410137:A159S	ENSP00000221166:A159S	A	+	1	0	NEFM	24827686	0.001000	0.12720	0.985000	0.45067	0.551000	0.35334	0.055000	0.14229	0.840000	0.34995	0.467000	0.42956	GCC		PASS	0.642	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		22	42	22	42	---	---	---	---
ESCO2	157570	broad.mit.edu	37	8	27634195	27634195	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:27634195G>C	ENST00000305188.8	+	3	608	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q	ESCO2_ENST00000397418.2_5'UTR|RNU6-1276P_ENST00000365372.1_RNA|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	124					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)	p.E124Q(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		CATTGTGACAGAAAAAATGCA	0.363									SC Phocomelia syndrome																													uc003xgg.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(370-372)GAA>CAA		establishment of cohesion 1 homolog 2							56.0	55.0	55.0					8																	27634195		2203	4300	6503	SO:0001583	missense	157570	SC_Phocomelia_syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27634195G>C	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.370G>C	8.37:g.27634195G>C	ENSP00000306999:p.Glu124Gln					ESCO2_uc010luy.1_RNA|ESCO2_uc003xgh.2_Missense_Mutation_p.E124Q	p.E124Q	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	3	453	+		Ovarian(32;0.000953)	124					B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	c.370G>C	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	G	6.977	0.550204	0.13374	.	.	ENSG00000171320	ENST00000523566;ENST00000305188;ENST00000519637	T;T;T	0.66638	0.46;-0.22;0.5	5.53	2.63	0.31362	.	0.795565	0.11939	N	0.514907	T	0.66327	0.2778	M	0.68952	2.095	0.29147	N	0.878649	P;P	0.51351	0.944;0.745	P;B	0.47981	0.563;0.169	T	0.59380	-0.7465	10	0.46703	T	0.11	-2.0361	5.4407	0.16507	0.1878:0.1622:0.65:0.0	.	124;124	E5RFE4;Q56NI9	.;ESCO2_HUMAN	Q	124	ENSP00000428435:E124Q;ENSP00000306999:E124Q;ENSP00000428027:E124Q	ENSP00000306999:E124Q	E	+	1	0	ESCO2	27690114	0.998000	0.40836	0.045000	0.18777	0.029000	0.11900	1.220000	0.32491	0.328000	0.23435	-0.218000	0.12543	GAA		PASS	0.363	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		54	101	54	101	---	---	---	---
ERLIN2	11160	broad.mit.edu	37	8	37607111	37607111	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:37607111A>T	ENST00000276461.5	+	7	526	c.459A>T	c.(457-459)caA>caT	p.Q153H	ERLIN2_ENST00000519638.1_Missense_Mutation_p.Q153H	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	153					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)		p.Q153H(1)		NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGCTTTGCAACAGGACCTGA	0.488																																						uc003xke.3																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)CAA>CAT		ER lipid raft associated 2 isoform 1							120.0	121.0	120.0					8																	37607111		2203	4300	6503	SO:0001583	missense	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37607111A>T	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.459A>T	8.37:g.37607111A>T	ENSP00000276461:p.Gln153His					LOC728024_uc010lvx.1_5'Flank	p.Q153H	NM_007175	NP_009106	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		7	574	+		Lung NSC(58;0.174)	153			Lumenal (Potential).		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Missense_Mutation	SNP	ENST00000276461.5	37	c.459A>T	CCDS6095.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387247	0.61956	.	.	ENSG00000147475	ENST00000518526;ENST00000276461;ENST00000521644;ENST00000519638	D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64	5.4	-5.53	0.02552	.	0.000000	0.85682	D	0.000000	D	0.97161	0.9072	M	0.92026	3.265	0.47183	D	0.999341	D	0.62365	0.991	D	0.75484	0.986	D	0.95734	0.8777	10	0.72032	D	0.01	-12.0684	17.6192	0.88076	0.3719:0.0:0.6281:0.0	.	153	O94905	ERLN2_HUMAN	H	110;153;153;153	ENSP00000429229:Q110H;ENSP00000276461:Q153H;ENSP00000429621:Q153H;ENSP00000428112:Q153H	ENSP00000276461:Q153H	Q	+	3	2	ERLIN2	37726269	0.909000	0.30893	0.730000	0.30809	0.939000	0.58152	-0.027000	0.12371	-1.682000	0.01446	-2.200000	0.00306	CAA		PASS	0.488	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		47	142	47	142	---	---	---	---
DDHD2	23259	broad.mit.edu	37	8	38111095	38111095	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:38111095C>G	ENST00000397166.2	+	16	2438	c.1913C>G	c.(1912-1914)tCt>tGt	p.S638C	DDHD2_ENST00000520272.2_Missense_Mutation_p.S638C|DDHD2_ENST00000517385.1_Missense_Mutation_p.S257C|DDHD2_ENST00000529845.1_Missense_Mutation_p.S89C	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	638	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.S638C(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAAGAGACCTCTGTGGCAGTT	0.428																																						uc003xlb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1912-1914)TCT>TGT		DDHD domain containing 2 isoform 1							137.0	131.0	133.0					8																	38111095		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38111095C>G	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1913C>G	8.37:g.38111095C>G	ENSP00000380352:p.Ser638Cys					DDHD2_uc003xlc.2_Missense_Mutation_p.S638C|DDHD2_uc003xld.2_Missense_Mutation_p.S257C	p.S638C	NM_015214	NP_056029	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		16	2290	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	638			DDHD.		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.1913C>G	CCDS34883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.41|12.41	1.930470|1.930470	0.34096|0.34096	.|.	.|.	ENSG00000085788|ENSG00000085788	ENST00000526144|ENST00000397166;ENST00000520272;ENST00000517385;ENST00000529845;ENST00000528613	.|T;T	.|0.34072	.|1.38;1.38	5.08|5.08	3.25|3.25	0.37280|0.37280	.|DDHD (2);	.|0.728258	.|0.13472	.|N	.|0.385367	T|T	0.30070|0.30070	0.0753|0.0753	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.15484	.|0.013	T|T	0.25012|0.25012	-1.0144|-1.0144	5|10	.|0.56958	.|D	.|0.05	0.0153|0.0153	11.6772|11.6772	0.51436|0.51436	0.0:0.8459:0.0:0.1541|0.0:0.8459:0.0:0.1541	.|.	.|638	.|O94830	.|DDHD2_HUMAN	V|C	140|638;638;257;89;6	.|ENSP00000380352:S638C;ENSP00000429932:S638C	.|ENSP00000380352:S638C	L|S	+|+	1|2	2|0	DDHD2|DDHD2	38230252|38230252	0.001000|0.001000	0.12720|0.12720	0.005000|0.005000	0.12908|0.12908	0.285000|0.285000	0.27093|0.27093	1.577000|1.577000	0.36515|0.36515	1.268000|1.268000	0.44264|0.44264	0.462000|0.462000	0.41574|0.41574	CTG|TCT		PASS	0.428	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		34	201	34	201	---	---	---	---
IDO1	3620	broad.mit.edu	37	8	39782819	39782819	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:39782819G>A	ENST00000518237.1	+	9	1424	c.785G>A	c.(784-786)gGc>gAc	p.G262D	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.G262D	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	262					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.G262D(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	TTTGCAGGGGGCAGTGCAGGC	0.498																																						uc003xnm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(784-786)GGC>GAC		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)						42.0	46.0	45.0					8																	39782819		1922	4133	6055	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39782819G>A	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.785G>A	8.37:g.39782819G>A	ENSP00000430950:p.Gly262Asp					IDO1_uc003xnn.2_RNA	p.G262D	NM_002164	NP_002155	P14902	I23O1_HUMAN			9	899	+			262					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.785G>A	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640916	0.67244	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.54866	0.55;0.55	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.80665	0.4666	H	0.94542	3.55	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	D	0.85316	0.1081	9	.	.	.	-27.6752	17.0466	0.86505	0.0:0.0:1.0:0.0	.	262	P14902	I23O1_HUMAN	D	262	ENSP00000430505:G262D;ENSP00000430950:G262D	.	G	+	2	0	IDO1	39901976	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	7.333000	0.79214	2.894000	0.99253	0.655000	0.94253	GGC		PASS	0.498	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		16	35	16	35	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41519460	41519460	+	Splice_Site	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:41519460C>G	ENST00000347528.4	-	41	5562		c.e41-1		RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000522543.1_Splice_Site|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000379758.2_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000522231.1_Splice_Site|ANK1_ENST00000314214.8_Splice_Site|ANK1_ENST00000265709.8_Splice_Site|ANK1_ENST00000396942.1_Splice_Site|ANK1_ENST00000289734.7_Splice_Site|MIR486_ENST00000408108.1_RNA|RP11-930P14.1_ENST00000585088.1_RNA	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic						axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.?(5)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCGAATGATCTAGGAAAGGA	0.592																																						uc003xok.2																			5	Unknown(5)		lung(5)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.e41-1		ankyrin 1 isoform 1							37.0	39.0	38.0					8																	41519460		2203	4300	6503	SO:0001630	splice_region_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41519460C>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5479-1G>C	8.37:g.41519460C>G						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Splice_Site_p.I981_splice|ANK1_uc003xoi.2_Splice_Site_p.I1827_splice|ANK1_uc003xoj.2_Splice_Site_p.I1827_splice|ANK1_uc003xol.2_Splice_Site_p.I1665_splice|ANK1_uc003xom.2_Splice_Site_p.I1868_splice|ANK1_uc011lcl.1_Splice_Site_p.I102_splice|ANK1_uc003xod.2_Splice_Site_p.I102_splice|ANK1_uc003xoc.2_Splice_Site_p.I102_splice|ANK1_uc003xof.2_Intron|MIR486_hsa-mir-486|MI0002470_5'Flank	p.I1827_splice	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		41	5563	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)						A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Splice_Site	SNP	ENST00000347528.4	37	c.5479_splice	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.012092	0.35511	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000396942;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000520299;ENST00000265709	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5674	0.95401	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANK1	41638617	1.000000	0.71417	0.996000	0.52242	0.024000	0.10985	6.588000	0.74076	2.873000	0.98535	0.561000	0.74099	.		PASS	0.592	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	Intron	35	122	35	122	---	---	---	---
THAP1	55145	broad.mit.edu	37	8	42693375	42693375	+	Missense_Mutation	SNP	C	C	G	rs201010904		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:42693375C>G	ENST00000254250.3	-	3	602	c.372G>C	c.(370-372)caG>caC	p.Q124H	THAP1_ENST00000345117.2_3'UTR|THAP1_ENST00000532093.1_5'Flank	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	124					cell cycle (GO:0007049)|endothelial cell proliferation (GO:0001935)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.Q124H(1)		NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TAACAGGGGTCTGAAGAGGCG	0.478																																						uc003xpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)CAG>CAC		THAP domain containing, apoptosis associated							114.0	123.0	120.0					8																	42693375		2203	4300	6503	SO:0001583	missense	55145				cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding	g.chr8:42693375C>G	BC021721	CCDS6136.1, CCDS6137.1	8p11.1	2013-01-25			ENSG00000131931	ENSG00000131931		"""THAP (C2CH-type zinc finger) domain containing"""	20856	protein-coding gene	gene with protein product		609520	"""dystonia 6, torsion (autosomal dominant)"""	DYT6		12575992, 12717420, 19182804	Standard	NM_018105		Approved	FLJ10477, 4833431A01Rik	uc003xpk.3	Q9NVV9	OTTHUMG00000165276	ENST00000254250.3:c.372G>C	8.37:g.42693375C>G	ENSP00000254250:p.Gln124His					THAP1_uc003xpl.2_3'UTR	p.Q124H	NM_018105	NP_060575	Q9NVV9	THAP1_HUMAN	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)		3	609	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	124					A6NCB6|D3DSY5|H9KV49|Q53FQ1|Q6IA99	Missense_Mutation	SNP	ENST00000254250.3	37	c.372G>C	CCDS6136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.50|14.50	2.554802|2.554802	0.45487|0.45487	.|.	.|.	ENSG00000131931|ENSG00000131931	ENST00000529779|ENST00000254250	.|D	.|0.97752	.|-4.52	5.52|5.52	2.56|2.56	0.30785|0.30785	.|.	.|0.644112	.|0.16584	.|N	.|0.208045	.|D	.|0.91905	.|0.7437	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|D	.|0.88177	.|0.2868	.|10	.|0.40728	.|T	.|0.16	.|-29.6349	9.5999|9.5999	0.39598|0.39598	0.321:0.497:0.1821:0.0|0.321:0.497:0.1821:0.0	.|.	.|124	.|Q9NVV9	.|THAP1_HUMAN	.|H	-1|124	.|ENSP00000254250:Q124H	.|ENSP00000254250:Q124H	.|Q	-|-	.|3	.|2	THAP1|THAP1	42812532|42812532	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	0.057000|0.057000	0.14279|0.14279	1.443000|1.443000	0.47586|0.47586	0.585000|0.585000	0.79938|0.79938	.|CAG		PASS	0.478	THAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383161.1	NM_018105		60	442	60	442	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52258427	52258427	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:52258427C>A	ENST00000356297.4	-	20	4082	c.3982G>T	c.(3982-3984)Gat>Tat	p.D1328Y	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1328					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.D1328Y(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATATCCTTATCAACAGGATAG	0.388																																						uc003xqu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(3982-3984)GAT>TAT		peroxidasin homolog-like precursor							135.0	126.0	129.0					8																	52258427		1915	4119	6034	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52258427C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3982G>T	8.37:g.52258427C>A	ENSP00000348645:p.Asp1328Tyr					PXDNL_uc003xqt.3_Intron	p.D1328Y	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			20	4083	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1328					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3982G>T	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.360|9.360	1.067672|1.067672	0.20067|0.20067	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297|ENST00000522933	T|.	0.68025|.	-0.3|.	4.34|4.34	-8.19|-8.19	0.01049|0.01049	.|.	.|.	.|.	.|.	.|.	T|T	0.18467|0.18467	0.0443|0.0443	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P|.	0.39311|.	0.667|.	B|.	0.38921|.	0.285|.	T|T	0.18745|0.18745	-1.0327|-1.0327	9|5	0.87932|.	D|.	0|.	.|.	2.3287|2.3287	0.04229|0.04229	0.1902:0.5299:0.128:0.152|0.1902:0.5299:0.128:0.152	.|.	1328|.	A1KZ92|.	PXDNL_HUMAN|.	Y|F	1328|401	ENSP00000348645:D1328Y|.	ENSP00000348645:D1328Y|.	D|L	-|-	1|3	0|2	PXDNL|PXDNL	52420980|52420980	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.655000|-0.655000	0.05348|0.05348	-1.938000|-1.938000	0.01046|0.01046	-0.768000|-0.768000	0.03414|0.03414	GAT|TTG		PASS	0.388	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		7	100	7	100	---	---	---	---
LYPLA1	10434	broad.mit.edu	37	8	54963582	54963582	+	Missense_Mutation	SNP	G	G	A	rs371316608		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:54963582G>A	ENST00000316963.3	-	8	822	c.629C>T	c.(628-630)tCg>tTg	p.S210L	LYPLA1_ENST00000519926.1_5'Flank|LYPLA1_ENST00000343231.6_Missense_Mutation_p.S194L	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	210					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)	p.S210L(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			CTGTTGACACGAACTGTGCAT	0.388																																						uc003xry.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(628-630)TCG>TTG		lysophospholipase 1		G	LEU/SER	0,4406		0,0,2203	165.0	158.0	160.0		629	5.1	1.0	8		160	1,8599	1.2+/-3.3	0,1,4299	no	missense	LYPLA1	NM_006330.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	210/231	54963582	1,13005	2203	4300	6503	SO:0001583	missense	10434				fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity	g.chr8:54963582G>A	AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.629C>T	8.37:g.54963582G>A	ENSP00000320043:p.Ser210Leu					LYPLA1_uc011ldx.1_Missense_Mutation_p.S171L|LYPLA1_uc003xrz.2_Missense_Mutation_p.S189L	p.S210L	NM_006330	NP_006321	O75608	LYPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)		8	823	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	210					O43202|Q9UQF9	Missense_Mutation	SNP	ENST00000316963.3	37	c.629C>T	CCDS6157.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961718	0.92791	0.0	1.16E-4	ENSG00000120992	ENST00000316963;ENST00000523751;ENST00000343231;ENST00000521171;ENST00000518546	T;T;T	0.19669	2.13;2.13;2.13	5.13	5.13	0.70059	Phospholipase/carboxylesterase/thioesterase (1);	0.127821	0.53938	D	0.000053	T	0.25791	0.0628	N	0.20574	0.59	0.80722	D	1	B;B;D	0.56035	0.127;0.215;0.974	B;B;P	0.53649	0.178;0.131;0.731	T	0.01925	-1.1246	10	0.38643	T	0.18	0.8016	18.5688	0.91128	0.0:0.0:1.0:0.0	.	176;194;210	B4DP64;O75608-2;O75608	.;.;LYPA1_HUMAN	L	210;176;194;119;194	ENSP00000320043:S210L;ENSP00000344477:S194L;ENSP00000428729:S194L	ENSP00000320043:S210L	S	-	2	0	LYPLA1	55126135	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.717000	0.98755	2.553000	0.86117	0.650000	0.86243	TCG		PASS	0.388	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378238.1			16	425	16	425	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77618013	77618013	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:77618013G>A	ENST00000521891.2	+	2	2138	c.1690G>A	c.(1690-1692)Gcc>Acc	p.A564T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A564T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A564T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A564T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A564T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGACGCAAGTGCCAGTAAAGA	0.512										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1690-1692)GCC>ACC		zinc finger homeodomain 4							52.0	56.0	54.0					8																	77618013		2103	4233	6336	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618013G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1690G>A	8.37:g.77618013G>A	ENSP00000430497:p.Ala564Thr	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.A564T|ZFHX4_uc003yau.1_Missense_Mutation_p.A564T|ZFHX4_uc003yaw.1_Missense_Mutation_p.A564T	p.A564T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2077	+			564					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1690G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	7.662	0.685207	0.14973	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58797	0.38;0.38;0.35;0.31	5.49	3.69	0.42338	.	0.337720	0.20954	U	0.082694	T	0.51007	0.1649	L	0.39898	1.24	0.36715	D	0.880856	B;B;B;P	0.46952	0.0;0.003;0.0;0.887	B;B;B;B	0.43889	0.001;0.006;0.002;0.435	T	0.59506	-0.7442	10	0.52906	T	0.07	.	12.2649	0.54672	0.138:0.0:0.862:0.0	.	564;564;564;564	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	T	564	ENSP00000430497:A564T;ENSP00000399605:A564T;ENSP00000050961:A564T;ENSP00000430848:A564T	ENSP00000050961:A564T	A	+	1	0	ZFHX4	77780568	1.000000	0.71417	0.223000	0.23860	0.982000	0.71751	3.728000	0.54991	0.864000	0.35578	0.655000	0.94253	GCC		PASS	0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		35	83	35	83	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77763196	77763196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:77763196G>T	ENST00000521891.2	+	10	4487	c.4039G>T	c.(4039-4041)Gag>Tag	p.E1347*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E1321*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E1302*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E1302*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E1347*(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGAATGAGGAGCAGAAACC	0.403										HNSCC(33;0.089)																												uc003yav.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3904-3906)GAG>TAG		zinc finger homeodomain 4							65.0	63.0	63.0					8																	77763196		1853	4088	5941	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763196G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4039G>T	8.37:g.77763196G>T	ENSP00000430497:p.Glu1347*	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Nonsense_Mutation_p.E1347*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.E1302*	p.E1302*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4291	+			1302					G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.3904G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	44	11.189298	0.99528	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	4.95	4.95	0.65309	.	0.000000	0.44902	U	0.000413	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	18.4305	0.90623	0.0:0.0:1.0:0.0	.	.	.	.	X	1347;1347;1302;1302;1321	.	ENSP00000050961:E1302X	E	+	1	0	ZFHX4	77925751	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.750000	0.85110	2.593000	0.87608	0.555000	0.69702	GAG		PASS	0.403	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		23	40	23	40	---	---	---	---
MTDH	92140	broad.mit.edu	37	8	98731283	98731283	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:98731283G>A	ENST00000336273.3	+	10	1715	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	MTDH_ENST00000519934.1_Missense_Mutation_p.E407K	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	463					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)	p.E463K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ATAGGACACAGAAGAATTAGA	0.348																																						uc003yhz.2																			1	Substitution - Missense(1)		lung(1)	liver(1)|central_nervous_system(1)	2						c.(1387-1389)GAA>AAA		metadherin							54.0	59.0	57.0					8																	98731283		2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98731283G>A	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1387G>A	8.37:g.98731283G>A	ENSP00000338235:p.Glu463Lys					MTDH_uc010mbf.2_RNA	p.E463K	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		10	1715	+	Breast(36;2.56e-06)		463			Cytoplasmic (Potential).		Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1387G>A	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.892280	0.91889	.	.	ENSG00000147649	ENST00000336273;ENST00000519934	T;T	0.55930	0.53;0.49	5.97	5.97	0.96955	.	0.129819	0.50627	D	0.000117	T	0.60314	0.2259	L	0.55481	1.735	0.45295	D	0.99829	D	0.53619	0.961	P	0.49597	0.616	T	0.60732	-0.7205	10	0.56958	D	0.05	-7.5927	18.6193	0.91316	0.0:0.0:1.0:0.0	.	463	Q86UE4	LYRIC_HUMAN	K	463;407	ENSP00000338235:E463K;ENSP00000428168:E407K	ENSP00000338235:E463K	E	+	1	0	MTDH	98800459	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.307000	0.72815	2.836000	0.97738	0.655000	0.94253	GAA		PASS	0.348	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			16	108	16	108	---	---	---	---
LAPTM4B	55353	broad.mit.edu	37	8	98831389	98831389	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:98831389G>A	ENST00000521545.2	+	5	664	c.430G>A	c.(430-432)Gat>Aat	p.D144N	LAPTM4B_ENST00000445593.2_Missense_Mutation_p.D235N			Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	288					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.D235N(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			TCCCTACAGAGATGATGTCAT	0.368																																						uc003yia.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(703-705)GAT>AAT		lysosomal associated transmembrane protein 4							187.0	171.0	177.0					8																	98831389		2202	4300	6502	SO:0001583	missense	55353				transport	endomembrane system|integral to membrane	protein binding	g.chr8:98831389G>A	AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000521545.2:c.430G>A	8.37:g.98831389G>A	ENSP00000428409:p.Asp144Asn					LAPTM4B_uc010mbg.2_Intron	p.D235N	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.149)		5	859	+	Breast(36;1.59e-06)		288					Q3ZCV5|Q7L909|Q86VH8|Q9H060	Missense_Mutation	SNP	ENST00000521545.2	37	c.703G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.305143	0.95601	.	.	ENSG00000104341	ENST00000445593;ENST00000378722;ENST00000521545	T;T	0.49720	0.77;0.77	5.65	5.65	0.86999	.	0.339957	0.33813	N	0.004526	T	0.54549	0.1865	L	0.40543	1.245	0.46542	D	0.999099	D	0.58970	0.984	P	0.55749	0.783	T	0.51076	-0.8751	10	0.44086	T	0.13	-6.5526	16.6572	0.85231	0.0:0.0:1.0:0.0	.	288	Q86VI4	LAP4B_HUMAN	N	235;281;144	ENSP00000402301:D235N;ENSP00000428409:D144N	ENSP00000367995:D281N	D	+	1	0	LAPTM4B	98900565	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.244000	0.95423	2.661000	0.90470	0.650000	0.86243	GAT		PASS	0.368	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000380016.2			41	273	41	273	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100133571	100133571	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:100133571G>T	ENST00000358544.2	+	8	1215	c.1104G>T	c.(1102-1104)ggG>ggT	p.G368G	CTD-2340D6.1_ENST00000523226.1_RNA|VPS13B_ENST00000357162.2_Silent_p.G368G|VPS13B_ENST00000395996.1_Silent_p.G368G|VPS13B_ENST00000441350.2_Silent_p.G368G|VPS13B_ENST00000355155.1_Silent_p.G368G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	368					protein transport (GO:0015031)			p.G368G(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACTTTGTTGGGAACGATCCTG	0.468																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(1102-1104)GGG>GGT		vacuolar protein sorting 13B isoform 5							169.0	152.0	158.0					8																	100133571		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100133571G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1104G>T	8.37:g.100133571G>T						VPS13B_uc003yiw.2_Silent_p.G368G|VPS13B_uc003yit.2_Silent_p.G368G|VPS13B_uc003yiu.1_Silent_p.G368G|VPS13B_uc003yis.2_Silent_p.G368G|VPS13B_uc011lgy.1_Silent_p.G244G	p.G368G	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		8	1215	+	Breast(36;3.73e-07)		368					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.1104G>T	CCDS6280.1																																																																																				PASS	0.468	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		26	200	26	200	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100733161	100733161	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:100733161G>A	ENST00000358544.2	+	39	7122	c.7011G>A	c.(7009-7011)atG>atA	p.M2337I	VPS13B_ENST00000357162.2_Missense_Mutation_p.M2312I|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2337					protein transport (GO:0015031)			p.M2312I(1)|p.M2337I(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGGGATGATGTTATGGAGAT	0.373																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(7009-7011)ATG>ATA		vacuolar protein sorting 13B isoform 5							79.0	75.0	76.0					8																	100733161		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100733161G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7011G>A	8.37:g.100733161G>A	ENSP00000351346:p.Met2337Ile					VPS13B_uc003yiw.2_Missense_Mutation_p.M2312I	p.M2337I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		39	7122	+	Breast(36;3.73e-07)		2337					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.7011G>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583697	0.65992	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72282	-0.63;-0.64	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.68540	0.3012	L	0.43152	1.355	0.80722	D	1	B;B	0.34103	0.437;0.31	B;B	0.37888	0.26;0.133	T	0.62277	-0.6888	10	0.23891	T	0.37	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	2312;2337	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	I	2312;2337	ENSP00000349685:M2312I;ENSP00000351346:M2337I	ENSP00000349685:M2312I	M	+	3	0	VPS13B	100802337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.860000	0.99555	2.861000	0.98227	0.655000	0.94253	ATG		PASS	0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		11	180	11	180	---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101252722	101252722	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:101252722C>T	ENST00000388798.2	+	18	2563	c.2372C>T	c.(2371-2373)tCa>tTa	p.S791L	SPAG1_ENST00000251809.3_Missense_Mutation_p.S791L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	791					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.S791L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AGCAGCAGGTCACCAGAAGAC	0.488																																						uc003yjh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2371-2373)TCA>TTA		sperm associated antigen 1							73.0	80.0	77.0					8																	101252722		2203	4300	6503	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101252722C>T	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.2372C>T	8.37:g.101252722C>T	ENSP00000373450:p.Ser791Leu					SPAG1_uc003yji.1_Missense_Mutation_p.S791L	p.S791L	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	18	2458	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	791					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.2372C>T	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.185593	0.38609	.	.	ENSG00000104450	ENST00000251809;ENST00000388798	T;T	0.61980	0.06;0.06	5.93	4.14	0.48551	.	12.983000	0.00166	N	0.000000	T	0.57184	0.2036	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42916	-0.9423	10	0.31617	T	0.26	-0.4052	12.0896	0.53717	0.0:0.8604:0.0:0.1396	.	791	Q07617	SPAG1_HUMAN	L	791	ENSP00000251809:S791L;ENSP00000373450:S791L	ENSP00000251809:S791L	S	+	2	0	SPAG1	101321898	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	0.370000	0.20433	0.839000	0.34971	0.561000	0.74099	TCA		PASS	0.488	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		7	130	7	130	---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104330835	104330835	+	Silent	SNP	A	A	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:104330835A>T	ENST00000358755.4	+	3	512	c.195A>T	c.(193-195)gcA>gcT	p.A65A	FZD6_ENST00000523739.1_Silent_p.A33A|FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Silent_p.A65A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	65	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A65A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTCCTCTCGCAAATCTGGAAT	0.303																																						uc003ylh.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(193-195)GCA>GCT		frizzled 6 isoform a precursor							80.0	80.0	80.0					8																	104330835		2203	4300	6503	SO:0001819	synonymous_variant	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104330835A>T	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.195A>T	8.37:g.104330835A>T						FZD6_uc003yli.2_Silent_p.A65A|FZD6_uc003ylj.2_Silent_p.A65A|FZD6_uc011lhn.1_Silent_p.A31A|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Silent_p.A10A	p.A65A	NM_003506	NP_003497	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		3	479	+			65			FZ.|Extracellular (Potential).		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Silent	SNP	ENST00000358755.4	37	c.195A>T	CCDS6298.1																																																																																				PASS	0.303	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		49	161	49	161	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113318394	113318394	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:113318394G>A	ENST00000297405.5	-	51	8157	c.7913C>T	c.(7912-7914)cCa>cTa	p.P2638L	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2568L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2534L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2598L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2638	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2638L(1)|p.P2598L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCATTTGTTGGAGCTTTAGG	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7912-7914)CCA>CTA		CUB and Sushi multiple domains 3 isoform 1							98.0	91.0	93.0					8																	113318394		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113318394G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7913C>T	8.37:g.113318394G>A	ENSP00000297405:p.Pro2638Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1840L|CSMD3_uc003ynt.2_Missense_Mutation_p.P2598L|CSMD3_uc011lhx.1_Missense_Mutation_p.P2534L	p.P2638L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			51	8072	-			2638			Extracellular (Potential).|Sushi 15.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7913C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786288	0.90282	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.53	5.53	0.82687	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	T	0.72803	0.3506	M	0.67625	2.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	T	0.66224	-0.5977	10	0.08837	T	0.75	.	19.4468	0.94851	0.0:0.0:1.0:0.0	.	2534;2638;2598	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	2598;2638;1908;2534;2568	ENSP00000345799:P2598L;ENSP00000297405:P2638L;ENSP00000341558:P1908L;ENSP00000412263:P2534L;ENSP00000343124:P2568L	ENSP00000297405:P2638L	P	-	2	0	CSMD3	113387570	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	2.591000	0.87537	0.557000	0.71058	CCA		PASS	0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		13	115	13	115	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113988322	113988322	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:113988322C>A	ENST00000297405.5	-	7	1330	c.1086G>T	c.(1084-1086)agG>agT	p.R362S	CSMD3_ENST00000352409.3_Missense_Mutation_p.R362S|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.R322S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	362						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R362S(1)|p.R322S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGTGGTAGTCCTGTTATGCT	0.458										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(1084-1086)AGG>AGT		CUB and Sushi multiple domains 3 isoform 1							150.0	143.0	145.0					8																	113988322		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113988322C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1086G>T	8.37:g.113988322C>A	ENSP00000297405:p.Arg362Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.R322S|CSMD3_uc011lhx.1_Intron	p.R362S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			7	1245	-			362			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1086G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054689	0.36277	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000352409	D;D;D	0.86562	-2.14;-2.14;-2.14	6.17	6.17	0.99709	.	0.419882	0.20773	N	0.085926	T	0.76190	0.3953	N	0.22421	0.69	0.26135	N	0.980369	B;B	0.09022	0.001;0.002	B;B	0.11329	0.002;0.006	T	0.57266	-0.7841	10	0.06891	T	0.86	.	11.328	0.49460	0.0:0.8063:0.1267:0.0669	.	362;322	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	S	322;362;362	ENSP00000345799:R322S;ENSP00000297405:R362S;ENSP00000343124:R362S	ENSP00000297405:R362S	R	-	3	2	CSMD3	114057498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.907000	0.39897	2.941000	0.99782	0.655000	0.94253	AGG		PASS	0.458	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		13	162	13	162	---	---	---	---
DERL1	79139	broad.mit.edu	37	8	124054246	124054246	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:124054246G>A	ENST00000259512.4	-	1	417	c.117C>T	c.(115-117)ctC>ctT	p.L39L	DERL1_ENST00000405944.3_Silent_p.L39L|DERL1_ENST00000419562.2_Silent_p.L39L|RNY4P5_ENST00000362808.1_RNA	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	39					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)	p.L39L(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCAGAGGAAGAGGTAGGCCG	0.652																																						uc003ypl.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(115-117)CTC>CTT		Der1-like domain family, member 1 isoform a							60.0	54.0	56.0					8																	124054246		2203	4300	6503	SO:0001819	synonymous_variant	79139				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity	g.chr8:124054246G>A	BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.117C>T	8.37:g.124054246G>A						DERL1_uc003ypm.2_Silent_p.L39L|DERL1_uc011lif.1_Silent_p.L39L|DERL1_uc003ypn.2_Silent_p.L39L	p.L39L	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		1	403	-	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		39			Helical; Name=1; (Potential).		B3KW41|E9PH19	Silent	SNP	ENST00000259512.4	37	c.117C>T	CCDS6337.1																																																																																				PASS	0.652	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381714.2	NM_024295		9	39	9	39	---	---	---	---
KHDRBS3	10656	broad.mit.edu	37	8	136619236	136619236	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:136619236G>A	ENST00000355849.5	+	7	1256	c.846G>A	c.(844-846)caG>caA	p.Q282Q	KHDRBS3_ENST00000520981.1_Silent_p.Q55Q	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	282	Tyr-rich.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q282Q(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATGATGAACAGAGTTATGATT	0.388																																						uc003yuv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(844-846)CAG>CAA		KH domain containing, RNA binding, signal							220.0	206.0	210.0					8																	136619236		2203	4300	6503	SO:0001819	synonymous_variant	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136619236G>A	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.846G>A	8.37:g.136619236G>A						KHDRBS3_uc003yuw.2_Intron|KHDRBS3_uc010mek.2_RNA	p.Q282Q	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		7	1240	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		282			Tyr-rich.		Q6NUL8|Q9UPA8	Silent	SNP	ENST00000355849.5	37	c.846G>A	CCDS6374.1																																																																																				PASS	0.388	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			42	373	42	373	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139380153	139380153	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:139380153C>G	ENST00000395297.1	-	2	244	c.74G>C	c.(73-75)aGa>aCa	p.R25T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	25								p.R25T(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TACTTACCCTCTCTGAAAGAG	0.388										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(73-75)AGA>ACA		hypothetical protein LOC51059							120.0	114.0	116.0					8																	139380153		1864	4112	5976	SO:0001583	missense	51059							g.chr8:139380153C>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.74G>C	8.37:g.139380153C>G	ENSP00000378710:p.Arg25Thr	HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.R25T	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		2	245	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		25					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.74G>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729134	0.89390	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.19250	2.16	5.54	5.54	0.83059	.	0.000000	0.52532	U	0.000063	T	0.51398	0.1672	M	0.80422	2.495	0.51767	D	0.999932	D	0.89917	1.0	D	0.85130	0.997	T	0.53920	-0.8370	10	0.87932	D	0	.	18.3941	0.90493	0.0:1.0:0.0:0.0	.	25	Q49AJ0	F135B_HUMAN	T	25	ENSP00000378710:R25T	ENSP00000160713:R25T	R	-	2	0	FAM135B	139449335	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.190000	0.77755	2.768000	0.95171	0.561000	0.74099	AGA		PASS	0.388	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		15	248	15	248	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139734314	139734314	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:139734314C>A	ENST00000303045.6	-	26	2712	c.2266G>T	c.(2266-2268)Ggg>Tgg	p.G756W	COL22A1_ENST00000435777.1_Missense_Mutation_p.G756W|COL22A1_ENST00000341807.4_Intron	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	756	Collagen-like 5.|Gly-rich.|Pro-rich.			GKDGPNGPPGPPGTK -> CILAAKTAPGLKQLN (in Ref. 2; AAH42075). {ECO:0000305}.	extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G756W(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCATTTGGCCCGTCCTTTCCA	0.488										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(2266-2268)GGG>TGG		collagen, type XXII, alpha 1							39.0	33.0	35.0					8																	139734314		2203	4298	6501	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139734314C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2266G>T	8.37:g.139734314C>A	ENSP00000303153:p.Gly756Trp	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G56W	p.G756W	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		26	2713	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		756	GKDGPNGPPGPPGTK -> CILAAKTAPGLKQLN (in Ref. 2; AAH42075).		Collagen-like 5.|Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2266G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	9.437	1.086938	0.20390	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99637	-6.29;-6.01	4.78	4.78	0.61160	.	0.000000	0.50627	D	0.000104	D	0.99513	0.9826	H	0.99169	4.455	0.45554	D	0.998507	B;B	0.32365	0.206;0.367	B;B	0.35971	0.215;0.204	D	0.98239	1.0487	10	0.87932	D	0	.	11.2172	0.48833	0.1836:0.8164:0.0:0.0	.	756;756	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	W	756;756;469	ENSP00000303153:G756W;ENSP00000387655:G756W	ENSP00000303153:G756W	G	-	1	0	COL22A1	139803496	0.072000	0.21174	0.996000	0.52242	0.046000	0.14306	3.283000	0.51701	2.572000	0.86782	0.655000	0.94253	GGG		PASS	0.488	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		5	10	5	10	---	---	---	---
PARP10	84875	broad.mit.edu	37	8	145059165	145059165	+	Silent	SNP	C	C	T	rs368685569		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:145059165C>T	ENST00000313028.7	-	5	1099	c.1005G>A	c.(1003-1005)ctG>ctA	p.L335L	PARP10_ENST00000525773.1_Silent_p.L347L|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_Silent_p.L335L	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	335					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L335L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACCTGTCCTCAGAGAGGTCC	0.617																																						uc003zal.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6						c.(1003-1005)CTG>CTA		poly (ADP-ribose) polymerase family, member 10				0,4406		0,0,2203	76.0	76.0	76.0		1005	-1.6	0.0	8		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PARP10	NM_032789.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		335/1026	145059165	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145059165C>T	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1005G>A	8.37:g.145059165C>T						PARP10_uc003zak.3_Silent_p.L41L|PARP10_uc011lku.1_Silent_p.L347L|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.L335L|PARP10_uc010mfn.1_Silent_p.L250L|PARP10_uc010mfo.1_3'UTR	p.L335L	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	1113	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		335					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	c.1005G>A	CCDS34960.1																																																																																				PASS	0.617	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		43	313	43	313	---	---	---	---
GPAA1	8733	broad.mit.edu	37	8	145140222	145140222	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:145140222C>T	ENST00000355091.4	+	10	1412	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	GPAA1_ENST00000361036.6_Silent_p.L371L	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	431					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)	p.L431L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGGCACCTCTGCTGATCTC	0.647																																						uc003zax.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1291-1293)CTG>TTG		glycosylphosphatidylinositol anchor attachment							27.0	30.0	29.0					8																	145140222		2171	4279	6450	SO:0001819	synonymous_variant	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145140222C>T	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1291C>T	8.37:g.145140222C>T							p.L431L	NM_003801	NP_003792	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		10	1401	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		431			Helical; (Potential).		Q9NSS0|Q9UQ31	Silent	SNP	ENST00000355091.4	37	c.1291C>T	CCDS43776.1																																																																																				PASS	0.647	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		33	55	33	55	---	---	---	---
PPP1R16A	84988	broad.mit.edu	37	8	145726940	145726940	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr8:145726940G>A	ENST00000292539.4	+	11	2158	c.1241G>A	c.(1240-1242)cGa>cAa	p.R414Q	CTD-2517M14.5_ENST00000569326.1_RNA|GPT_ENST00000528431.1_5'Flank|GPT_ENST00000394955.2_5'Flank|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R414Q|CTD-2517M22.14_ENST00000532766.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	414						plasma membrane (GO:0005886)		p.R414Q(1)		NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CACAATGGCCGAGTAGGGGGC	0.657																																						uc003zdd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1240-1242)CGA>CAA		protein phosphatase 1, regulatory (inhibitor)																																				SO:0001583	missense	84988					plasma membrane	protein binding	g.chr8:145726940G>A		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1241G>A	8.37:g.145726940G>A	ENSP00000292539:p.Arg414Gln					uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.R414Q|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank	p.R414Q	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		11	2154	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		414					D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	c.1241G>A	CCDS6429.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.036|5.036	0.192347|0.192347	0.09599|0.09599	.|.	.|.	ENSG00000160972|ENSG00000160972	ENST00000528430|ENST00000292539;ENST00000435887	.|T;T	.|0.69806	.|-0.43;-0.43	4.48|4.48	1.02|1.02	0.19986|0.19986	.|.	.|1.074220	.|0.07287	.|N	.|0.871779	T|T	0.45236|0.45236	0.1332|0.1332	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.23490	.|0.086	.|B	.|0.08055	.|0.003	T|T	0.22173|0.22173	-1.0224|-1.0224	5|10	.|0.14252	.|T	.|0.57	.|.	4.0124|4.0124	0.09629|0.09629	0.3441:0.0:0.4863:0.1696|0.3441:0.0:0.4863:0.1696	.|.	.|414	.|Q96I34	.|PP16A_HUMAN	K|Q	82|414	.|ENSP00000292539:R414Q;ENSP00000391126:R414Q	.|ENSP00000292539:R414Q	E|R	+|+	1|2	0|0	PPP1R16A|PPP1R16A	145697748|145697748	0.317000|0.317000	0.24589|0.24589	0.423000|0.423000	0.26634|0.26634	0.548000|0.548000	0.35241|0.35241	1.430000|1.430000	0.34914|0.34914	0.313000|0.313000	0.23062|0.23062	0.462000|0.462000	0.41574|0.41574	GAG|CGA		PASS	0.657	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		7	21	7	21	---	---	---	---
TPD52L3	89882	broad.mit.edu	37	9	6328993	6328993	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:6328993C>G	ENST00000344545.5	+	1	645	c.398C>G	c.(397-399)tCa>tGa	p.S133*	TPD52L3_ENST00000381428.1_Intron|TPD52L3_ENST00000314556.3_Intron	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	133								p.S133*(1)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TCCAAAGTCTCAGGGGGCAAA	0.537																																						uc003zjw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(397-399)TCA>TGA		protein kinase NYD-SP25 isoform 1							52.0	54.0	53.0					9																	6328993		2203	4300	6503	SO:0001587	stop_gained	89882						protein binding	g.chr9:6328993C>G	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.398C>G	9.37:g.6328993C>G	ENSP00000341677:p.Ser133*					TPD52L3_uc003zjv.2_Intron|TPD52L3_uc003zjx.1_Intron	p.S133*	NM_033516	NP_277051	Q96J77	TPD55_HUMAN		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)	1	619	+		Acute lymphoblastic leukemia(23;0.158)	133					Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Nonsense_Mutation	SNP	ENST00000344545.5	37	c.398C>G	CCDS34986.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180769	0.57800	.	.	ENSG00000170777	ENST00000344545	.	.	.	4.08	3.18	0.36537	.	0.613133	0.15185	N	0.275883	.	.	.	.	.	.	0.41300	D	0.987039	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-7.6816	7.7272	0.28767	0.0:0.887:0.0:0.113	.	.	.	.	X	133	.	ENSP00000341677:S133X	S	+	2	0	TPD52L3	6318993	0.003000	0.15002	0.304000	0.25085	0.098000	0.18820	0.654000	0.24918	1.324000	0.45282	0.511000	0.50034	TCA		PASS	0.537	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		20	195	20	195	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8518114	8518114	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:8518114G>T	ENST00000381196.4	-	18	1820	c.1277C>A	c.(1276-1278)gCa>gAa	p.A426E	PTPRD_ENST00000356435.5_Missense_Mutation_p.A426E|PTPRD_ENST00000397606.3_Missense_Mutation_p.A416E|PTPRD_ENST00000537002.1_Missense_Mutation_p.A423E|PTPRD_ENST00000360074.4_Missense_Mutation_p.A413E|PTPRD_ENST00000358503.5_Missense_Mutation_p.A413E|PTPRD_ENST00000355233.5_Missense_Mutation_p.A426E|PTPRD_ENST00000486161.1_Missense_Mutation_p.A426E|PTPRD_ENST00000397611.3_Missense_Mutation_p.A423E|PTPRD_ENST00000397617.3_Missense_Mutation_p.A416E|PTPRD_ENST00000540109.1_Missense_Mutation_p.A426E	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	426	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A426E(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CAACATTCGTGCCTGGACATC	0.502										TSP Lung(15;0.13)																												uc003zkk.2																			4	Substitution - Missense(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(1276-1278)GCA>GAA		protein tyrosine phosphatase, receptor type, D							196.0	183.0	188.0					9																	8518114		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8518114G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1277C>A	9.37:g.8518114G>T	ENSP00000370593:p.Ala426Glu	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.A426E|PTPRD_uc003zkq.2_Missense_Mutation_p.A426E|PTPRD_uc003zkr.2_Missense_Mutation_p.A420E|PTPRD_uc003zks.2_Missense_Mutation_p.A416E|PTPRD_uc003zkl.2_Missense_Mutation_p.A426E|PTPRD_uc003zkm.2_Missense_Mutation_p.A413E|PTPRD_uc003zkn.2_Missense_Mutation_p.A426E|PTPRD_uc003zko.2_Missense_Mutation_p.A423E	p.A426E	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	20	1988	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	426			Fibronectin type-III 2.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1277C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.125895	0.37533	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18;0.18	5.31	5.31	0.75309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055351	0.64402	D	0.000001	D	0.84284	0.5438	H	0.96518	3.835	0.80722	D	1	D;D;P;D;P;D;D;P;D	0.76494	0.979;0.988;0.899;0.979;0.893;0.974;0.999;0.937;0.999	D;D;P;D;B;P;D;P;D	0.75484	0.962;0.962;0.814;0.93;0.438;0.907;0.986;0.846;0.984	D	0.89465	0.3739	9	.	.	.	.	18.9787	0.92747	0.0:0.0:1.0:0.0	.	416;420;426;426;423;423;413;426;426	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	E	426;426;413;413;426;416;423;423;426;426;426;416	ENSP00000370593:A426E;ENSP00000348812:A426E;ENSP00000353187:A413E;ENSP00000351293:A413E;ENSP00000347373:A426E;ENSP00000380741:A416E;ENSP00000380735:A423E;ENSP00000440515:A423E;ENSP00000438164:A426E;ENSP00000417093:A426E;ENSP00000380731:A416E	.	A	-	2	0	PTPRD	8508114	1.000000	0.71417	0.993000	0.49108	0.026000	0.11368	6.023000	0.70848	2.484000	0.83849	0.467000	0.42956	GCA		PASS	0.502	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			142	146	142	146	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16436263	16436263	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:16436263C>T	ENST00000380672.4	-	6	1986	c.1929G>A	c.(1927-1929)gaG>gaA	p.E643E	BNC2_ENST00000380666.2_Silent_p.E643E|BNC2_ENST00000545497.1_Silent_p.E548E|BNC2_ENST00000380667.2_Silent_p.E576E	NM_017637.5	NP_060107.3			basonuclin 2									p.E643E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TAATTTCCTTCTCAATCTTCA	0.493																																						uc003zml.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1927-1929)GAG>GAA		basonuclin 2							120.0	111.0	114.0					9																	16436263		2203	4300	6503	SO:0001819	synonymous_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436263C>T	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1929G>A	9.37:g.16436263C>T						BNC2_uc011lmw.1_Silent_p.E548E|BNC2_uc003zmm.2_Silent_p.E601E|BNC2_uc003zmq.1_Silent_p.E657E|BNC2_uc003zmr.1_Silent_p.E680E|BNC2_uc003zmp.1_Silent_p.E671E|BNC2_uc010mij.1_Silent_p.E565E|BNC2_uc011lmv.1_Silent_p.E469E|BNC2_uc003zmo.1_Silent_p.E565E|BNC2_uc003zmj.2_Silent_p.E408E|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.E408E|BNC2_uc003zmn.1_Silent_p.E408E	p.E643E	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	2069	-			643						Silent	SNP	ENST00000380672.4	37	c.1929G>A	CCDS6482.2																																																																																				PASS	0.493	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		27	92	27	92	---	---	---	---
DENND4C	55667	broad.mit.edu	37	9	19316466	19316466	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:19316466C>G	ENST00000380432.2	+	7	864	c.831C>G	c.(829-831)tgC>tgG	p.C277W	DENND4C_ENST00000434457.2_Missense_Mutation_p.C513W|DENND4C_ENST00000602925.1_Missense_Mutation_p.C513W			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	277					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.C277W(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AAAAGCCGTGCAAAAATCTAC	0.328																																						uc003znq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(829-831)TGC>TGG		DENN/MADD domain containing 4C							74.0	76.0	76.0					9																	19316466		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19316466C>G	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.831C>G	9.37:g.19316466C>G	ENSP00000369797:p.Cys277Trp					DENND4C_uc011lnc.1_5'UTR	p.C277W	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			7	864	+			277					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.831C>G		.	.	.	.	.	.	.	.	.	.	C	15.31	2.795657	0.50208	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.99	0.836	0.18891	.	0.376195	0.34046	N	0.004319	T	0.63367	0.2505	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	P	0.61397	0.888	T	0.61773	-0.6994	9	0.87932	D	0	-8.8414	5.3199	0.15876	0.0:0.444:0.1464:0.4096	.	277	Q5VZ89	DEN4C_HUMAN	W	277	.	ENSP00000369802:C277W	C	+	3	2	DENND4C	19306466	0.826000	0.29277	1.000000	0.80357	0.989000	0.77384	0.628000	0.24522	0.296000	0.22592	-0.224000	0.12420	TGC		PASS	0.328	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		5	117	5	117	---	---	---	---
IFNA17	3451	broad.mit.edu	37	9	21227825	21227825	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:21227825C>T	ENST00000413767.2	-	1	396	c.348G>A	c.(346-348)ctG>ctA	p.L116L		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	116					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.L116L(1)		breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCAGGTTATTCAGTTGCTGGT	0.468																																						uc003zos.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(346-348)CTG>CTA		interferon, alpha 17 precursor							138.0	144.0	142.0					9																	21227825		2203	4300	6503	SO:0001819	synonymous_variant	3451				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21227825C>T		CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"""Interferons"""	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.348G>A	9.37:g.21227825C>T						IFNA14_uc003zoo.1_Intron	p.L116L	NM_021268	NP_067091	P01571	IFN17_HUMAN		Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	397	-			116					Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Silent	SNP	ENST00000413767.2	37	c.348G>A	CCDS6500.1																																																																																				PASS	0.468	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051896.1	NM_021268		31	297	31	297	---	---	---	---
APTX	54840	broad.mit.edu	37	9	32984745	32984745	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:32984745C>A	ENST00000379819.1	-	6	695	c.696G>T	c.(694-696)agG>agT	p.R232S	APTX_ENST00000379825.2_Missense_Mutation_p.R232S|APTX_ENST00000397172.3_Missense_Mutation_p.R160S|APTX_ENST00000379813.3_Missense_Mutation_p.R218S|APTX_ENST00000436040.2_Intron|APTX_ENST00000463596.1_Missense_Mutation_p.R218S|APTX_ENST00000379817.2_Missense_Mutation_p.R218S|APTX_ENST00000309615.3_Missense_Mutation_p.R232S|APTX_ENST00000476858.1_Missense_Mutation_p.R178S|APTX_ENST00000468275.1_Missense_Mutation_p.R218S			Q7Z2E3	APTX_HUMAN	aprataxin	232	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|dephosphorylation (GO:0016311)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA ligation (GO:0006266)|double-strand break repair (GO:0006302)|polynucleotide 3' dephosphorylation (GO:0098506)|regulation of protein stability (GO:0031647)|response to hydrogen peroxide (GO:0042542)|single strand break repair (GO:0000012)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA 5'-adenosine monophosphate hydrolase activity (GO:0033699)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|phosphoglycolate phosphatase activity (GO:0008967)|phosphoprotein binding (GO:0051219)|polynucleotide 3'-phosphatase activity (GO:0046403)|protein N-terminus binding (GO:0047485)	p.R218S(1)|p.R232S(1)		endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		CAAGGTGTTCCCTGGCCACAG	0.512								Editing and processing nucleases																														uc003zrm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(652-654)AGG>AGT	Direct_reversal_of_damage|Editing_and_processing_nucleases	aprataxin isoform c							190.0	173.0	179.0					9																	32984745		2203	4300	6503	SO:0001583	missense	54840				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding	g.chr9:32984745C>A	AK000164	CCDS47956.1, CCDS56568.1, CCDS75827.1	9p13.3	2014-01-28	2003-04-03		ENSG00000137074	ENSG00000137074			15984	protein-coding gene	gene with protein product		606350	"""ataxia 1, early onset with hypoalbuminemia"""	AXA1		11586299, 11586300	Standard	NM_175069		Approved	FLJ20157, AOA, AOA1, EAOH, EOAHA	uc003zry.3	Q7Z2E3	OTTHUMG00000019759	ENST00000379819.1:c.696G>T	9.37:g.32984745C>A	ENSP00000369147:p.Arg232Ser					APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_Missense_Mutation_p.R130S|APTX_uc011lns.1_Missense_Mutation_p.R39S|APTX_uc003zrl.2_Missense_Mutation_p.R44S|APTX_uc003zrn.2_Missense_Mutation_p.R130S|APTX_uc003zro.2_Missense_Mutation_p.R218S|APTX_uc003zrp.2_Missense_Mutation_p.R130S|APTX_uc003zrq.2_Missense_Mutation_p.R130S|APTX_uc003zrr.2_Missense_Mutation_p.R164S|APTX_uc003zrs.2_Missense_Mutation_p.R218S|APTX_uc003zrt.2_Missense_Mutation_p.R130S|APTX_uc003zru.2_Missense_Mutation_p.R164S|APTX_uc003zrv.2_Missense_Mutation_p.R232S|APTX_uc003zrw.2_Missense_Mutation_p.R146S|APTX_uc003zrx.2_Missense_Mutation_p.R218S|APTX_uc003zry.2_Missense_Mutation_p.R218S|APTX_uc003zrz.2_Missense_Mutation_p.R39S|APTX_uc003zsa.1_Missense_Mutation_p.R164S|APTX_uc003zsb.1_RNA|APTX_uc003zsc.1_RNA	p.R218S	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)	5	851	-			232			HIT.		A8MTN4|D3DRK9|D3DRL0|Q0P662|Q5T781|Q5T782|Q5T784|Q6JV81|Q6JV82|Q6JV85|Q7Z2F3|Q7Z336|Q7Z5R5|Q7Z6V7|Q7Z6V8|Q9NXM5	Missense_Mutation	SNP	ENST00000379819.1	37	c.654G>T		.	.	.	.	.	.	.	.	.	.	C	5.004	0.186463	0.09495	.	.	ENSG00000137074	ENST00000379825;ENST00000309615;ENST00000397172;ENST00000379817;ENST00000379819;ENST00000468275;ENST00000463596;ENST00000476858;ENST00000344355;ENST00000379813;ENST00000379812;ENST00000473221	D;D;D;D;D;D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	5.6	-2.18	0.07037	Histidine triad motif (1);Histidine triad-like motif (1);	0.640973	0.18011	N	0.154548	D	0.83764	0.5325	N	0.21545	0.675	0.45791	D	0.998672	B;B;B;B;B	0.12013	0.005;0.004;0.002;0.001;0.001	B;B;B;B;B	0.13407	0.007;0.006;0.009;0.003;0.009	T	0.65726	-0.6098	10	0.21014	T	0.42	-4.9465	0.3319	0.00320	0.3043:0.184:0.1421:0.3696	.	178;160;232;164;232	C9JZ40;Q7Z2E3-3;Q5T782;Q7Z2E3-5;Q7Z2E3	.;.;.;.;APTX_HUMAN	S	232;232;160;218;232;218;218;178;213;218;160;178	ENSP00000369153:R232S;ENSP00000311547:R232S;ENSP00000380357:R160S;ENSP00000369145:R218S;ENSP00000369147:R232S;ENSP00000420263:R218S;ENSP00000419846:R218S;ENSP00000419042:R178S;ENSP00000369141:R218S;ENSP00000369140:R160S;ENSP00000419020:R178S	ENSP00000311547:R232S	R	-	3	2	APTX	32974745	0.000000	0.05858	0.954000	0.39281	0.587000	0.36485	-0.380000	0.07427	-0.244000	0.09639	0.655000	0.94253	AGG		PASS	0.512	APTX-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000052028.2	NM_017692		34	104	34	104	---	---	---	---
FAM74A7	100996582	broad.mit.edu	37	9	40716216	40716216	+	lincRNA	SNP	T	T	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:40716216T>A	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA														p.L123*(1)									AGGCTGTCGTTACTGCTGCAC	0.448																																						uc010mmk.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.							30.0	31.0	31.0					9																	40716216		2197	4282	6479			728495							g.chr9:40716216T>A																													9.37:g.40716216T>A								NR_026801					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	1		+									RNA	SNP	ENST00000432614.1	37	c.693T>A																																																																																					PASS	0.448	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			18	137	18	137	---	---	---	---
MAMDC2	256691	broad.mit.edu	37	9	72746522	72746522	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:72746522C>G	ENST00000377182.4	+	7	1605	c.988C>G	c.(988-990)Cag>Gag	p.Q330E	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	330					peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)	p.Q330E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTGCCAGAATCAGACAGGTGA	0.378																																						uc004ahm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(988-990)CAG>GAG		MAM domain containing 2 precursor							235.0	201.0	212.0					9																	72746522		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72746522C>G	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.988C>G	9.37:g.72746522C>G	ENSP00000366387:p.Gln330Glu					MAMDC2_uc004ahn.2_RNA	p.Q330E	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN			7	1605	+			330					Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.988C>G	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148641	0.21288	.	.	ENSG00000165072	ENST00000377182	T	0.02446	4.29	5.36	5.36	0.76844	Concanavalin A-like lectin/glucanase (1);	0.157125	0.64402	D	0.000019	T	0.03390	0.0098	L	0.46157	1.445	0.40119	D	0.976579	B	0.06786	0.001	B	0.06405	0.002	T	0.25012	-1.0144	10	0.02654	T	1	-8.3279	15.4866	0.75573	0.0:0.8615:0.1385:0.0	.	330	Q7Z304	MAMC2_HUMAN	E	330	ENSP00000366387:Q330E	ENSP00000366387:Q330E	Q	+	1	0	MAMDC2	71936342	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	3.113000	0.50376	2.523000	0.85059	0.655000	0.94253	CAG		PASS	0.378	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		52	258	52	258	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77455049	77455049	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:77455049G>T	ENST00000360774.1	-	5	672	c.435C>A	c.(433-435)ggC>ggA	p.G145G	TRPM6_ENST00000376871.3_Silent_p.G145G|TRPM6_ENST00000376872.3_Silent_p.G145G|TRPM6_ENST00000361255.3_Silent_p.G140G|TRPM6_ENST00000449912.2_Silent_p.G140G|TRPM6_ENST00000451710.3_Silent_p.G145G|TRPM6_ENST00000359047.2_Silent_p.G145G|TRPM6_ENST00000376864.4_Silent_p.G145G	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	145					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.G145G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGTTCTGGATGCCCCCATGGA	0.398																																						uc004ajl.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(433-435)GGC>GGA		transient receptor potential cation channel,							128.0	123.0	125.0					9																	77455049		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77455049G>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.435C>A	9.37:g.77455049G>T						TRPM6_uc004ajk.1_Silent_p.G140G|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Silent_p.G145G|TRPM6_uc010mpd.1_Silent_p.G145G|TRPM6_uc010mpe.1_Silent_p.G145G|TRPM6_uc004ajn.1_Silent_p.G145G	p.G145G	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			5	673	-			145			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.435C>A	CCDS6647.1																																																																																				PASS	0.398	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		39	164	39	164	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79947023	79947023	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:79947023C>T	ENST00000360280.3	+	46	6349	c.6089C>T	c.(6088-6090)tCt>tTt	p.S2030F	VPS13A_ENST00000376634.4_Missense_Mutation_p.S2030F|VPS13A_ENST00000376636.3_Missense_Mutation_p.S1991F|VPS13A_ENST00000357409.5_Missense_Mutation_p.S2030F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2030					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.S2030F(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCATTAGGATCTTACCGGTAT	0.338																																						uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(6088-6090)TCT>TTT		vacuolar protein sorting 13A isoform A							131.0	130.0	130.0					9																	79947023		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79947023C>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.6089C>T	9.37:g.79947023C>T	ENSP00000353422:p.Ser2030Phe					VPS13A_uc004akp.3_Missense_Mutation_p.S2030F|VPS13A_uc004akq.3_Missense_Mutation_p.S2030F|VPS13A_uc004aks.2_Missense_Mutation_p.S1991F|VPS13A_uc004akt.2_Missense_Mutation_p.S370F	p.S2030F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			46	6349	+			2030			TPR 6.		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.6089C>T	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.53|16.53	3.150400|3.150400	0.57151|0.57151	.|.	.|.	ENSG00000197969|ENSG00000197969	ENST00000419472|ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.|T;T;T;T	.|0.49720	.|0.94;0.77;0.86;0.95	5.77|5.77	4.88|4.88	0.63580|0.63580	.|.	.|0.336851	.|0.32459	.|N	.|0.006069	T|T	0.42040|0.42040	0.1185|0.1185	L|L	0.51914|0.51914	1.62|1.62	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.28400	.|0.21;0.025;0.053;0.051;0.088	.|B;B;B;B;B	.|0.31191	.|0.125;0.029;0.037;0.046;0.082	T|T	0.25537|0.25537	-1.0129|-1.0129	5|10	.|0.10111	.|T	.|0.7	.|.	15.1932|15.1932	0.73063|0.73063	0.0:0.9324:0.0:0.0676|0.0:0.9324:0.0:0.0676	.|.	.|282;1991;2030;2030;2030	.|B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.|.;.;VP13A_HUMAN;.;.	F|F	283|2030;1991;2030;2030	.|ENSP00000365821:S2030F;ENSP00000365823:S1991F;ENSP00000353422:S2030F;ENSP00000349985:S2030F	.|ENSP00000349985:S2030F	L|S	+|+	1|2	0|0	VPS13A|VPS13A	79136843|79136843	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.929000|0.929000	0.56500|0.56500	5.032000|5.032000	0.64140|0.64140	1.588000|1.588000	0.49971|0.49971	0.655000|0.655000	0.94253|0.94253	CTT|TCT		PASS	0.338	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		7	173	7	173	---	---	---	---
GNA14	9630	broad.mit.edu	37	9	80144091	80144091	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:80144091C>G	ENST00000341700.6	-	2	716	c.203G>C	c.(202-204)aGa>aCa	p.R68T	RP11-466A17.1_ENST00000439145.1_RNA	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	68					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R68T(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GAACCCCTTTCTGTCTTCGTC	0.448																																						uc004aku.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(202-204)AGA>ACA		G alpha 14							361.0	333.0	342.0					9																	80144091		2203	4300	6503	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80144091C>G	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.203G>C	9.37:g.80144091C>G	ENSP00000365807:p.Arg68Thr						p.R68T	NM_004297	NP_004288	O95837	GNA14_HUMAN			2	726	-			68					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.203G>C	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036384	0.75617	.	.	ENSG00000156049	ENST00000341700	D	0.90385	-2.66	5.92	5.92	0.95590	G protein alpha subunit, helical insertion (2);	0.044675	0.85682	D	0.000000	D	0.95503	0.8539	H	0.94542	3.55	0.45161	D	0.998176	P	0.38250	0.624	P	0.51701	0.677	D	0.93877	0.7167	10	0.21014	T	0.42	.	15.4723	0.75449	0.0:0.9324:0.0:0.0676	.	68	O95837	GNA14_HUMAN	T	68	ENSP00000365807:R68T	ENSP00000365807:R68T	R	-	2	0	GNA14	79333911	0.282000	0.24268	1.000000	0.80357	0.981000	0.71138	0.845000	0.27668	2.828000	0.97474	0.650000	0.86243	AGA		PASS	0.448	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			111	456	111	456	---	---	---	---
CEP78	84131	broad.mit.edu	37	9	80858453	80858453	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:80858453G>T	ENST00000424347.2	+	5	968	c.679G>T	c.(679-681)Gct>Tct	p.A227S	CEP78_ENST00000415759.2_Missense_Mutation_p.A227S|CEP78_ENST00000376598.2_Missense_Mutation_p.A227S|CEP78_ENST00000376597.4_Missense_Mutation_p.A227S|CEP78_ENST00000277082.5_Missense_Mutation_p.A227S			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	227					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.A227S(2)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						TGACTGTATGGCTGGCTTAAG	0.433																																						uc004akx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(679-681)GCT>TCT		centrosomal protein 78kDa isoform b							160.0	152.0	154.0					9																	80858453		1953	4152	6105	SO:0001583	missense	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80858453G>T	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.679G>T	9.37:g.80858453G>T	ENSP00000411284:p.Ala227Ser					CEP78_uc004aky.3_Missense_Mutation_p.A227S|CEP78_uc010mpp.2_Missense_Mutation_p.A227S|CEP78_uc011lsp.1_Missense_Mutation_p.A140S	p.A227S	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN			5	955	+			227					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37	c.679G>T		.	.	.	.	.	.	.	.	.	.	G	14.47	2.545892	0.45280	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.7	4.81	0.61882	.	0.139422	0.49916	D	0.000134	T	0.43809	0.1264	L	0.28556	0.865	0.36387	D	0.862297	B;P;D;B	0.59767	0.196;0.954;0.986;0.11	B;P;P;B	0.53593	0.032;0.541;0.73;0.093	T	0.47381	-0.9122	10	0.22109	T	0.4	-18.3683	9.4637	0.38800	0.0815:0.1469:0.7716:0.0	.	140;227;227;227	B7Z8H9;E9PHX5;Q5JTW2-2;Q5JTW2	.;.;.;CEP78_HUMAN	S	227	ENSP00000411284:A227S;ENSP00000399286:A227S;ENSP00000365782:A227S;ENSP00000277082:A227S;ENSP00000365783:A227S	ENSP00000277082:A227S	A	+	1	0	CEP78	80048273	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.231000	0.51294	1.401000	0.46761	0.655000	0.94253	GCT		PASS	0.433	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		20	86	20	86	---	---	---	---
ZNF484	83744	broad.mit.edu	37	9	95610355	95610355	+	Silent	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:95610355G>C	ENST00000375495.3	-	5	862	c.714C>G	c.(712-714)ctC>ctG	p.L238L	ZNF484_ENST00000395505.2_Silent_p.L202L|ZNF484_ENST00000332591.6_Silent_p.L202L|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Silent_p.L240L	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L238L(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTTGTTGAATGAGAGCTTGCT	0.388																																						uc004asu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(712-714)CTC>CTG		zinc finger protein 484 isoform a							119.0	122.0	121.0					9																	95610355		2203	4300	6503	SO:0001819	synonymous_variant	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610355G>C	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.714C>G	9.37:g.95610355G>C						ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Silent_p.L240L|ZNF484_uc010mrb.1_Silent_p.L202L|ZNF484_uc004asv.1_Silent_p.L202L	p.L238L	NM_031486	NP_113674	Q5JVG2	ZN484_HUMAN			5	863	-			238			C2H2-type 1; degenerate.		B1AL89|B4DRI2	Silent	SNP	ENST00000375495.3	37	c.714C>G	CCDS35066.1																																																																																				PASS	0.388	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		8	184	8	184	---	---	---	---
ZNF169	169841	broad.mit.edu	37	9	97063487	97063487	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:97063487C>T	ENST00000395395.2	+	5	1737	c.1647C>T	c.(1645-1647)cgC>cgT	p.R549R	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	549					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R549R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AATGTGGGCGCGGCTTTGGCT	0.552																																						uc004aum.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1645-1647)CGC>CGT		zinc finger protein 169							101.0	93.0	96.0					9																	97063487		2203	4300	6503	SO:0001819	synonymous_variant	169841					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:97063487C>T	U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.1647C>T	9.37:g.97063487C>T							p.R549R	NM_194320	NP_919301	Q14929	ZN169_HUMAN			5	1752	+		Acute lymphoblastic leukemia(62;0.136)	549			C2H2-type 12.		A2AGP5|A8K127|Q6PI28	Silent	SNP	ENST00000395395.2	37	c.1647C>T	CCDS6709.2																																																																																				PASS	0.552	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253714.1	NM_194320		29	133	29	133	---	---	---	---
ALG2	85365	broad.mit.edu	37	9	101980675	101980675	+	Silent	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:101980675C>G	ENST00000476832.1	-	2	853	c.792G>C	c.(790-792)ctG>ctC	p.L264L	ALG2_ENST00000319033.6_Silent_p.L171L	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.L264L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				CTGCCACGATCAGATGAACCC	0.468																																						uc004azf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(790-792)CTG>CTC		alpha-1,3-mannosyltransferase ALG2							149.0	146.0	147.0					9																	101980675		2203	4300	6503	SO:0001819	synonymous_variant	85365				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	g.chr9:101980675C>G	AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.792G>C	9.37:g.101980675C>G						ALG2_uc004azg.2_Silent_p.L171L	p.L264L	NM_033087	NP_149078	Q9H553	ALG2_HUMAN			2	862	-		Acute lymphoblastic leukemia(62;0.0559)	264					B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Silent	SNP	ENST00000476832.1	37	c.792G>C	CCDS6739.1																																																																																				PASS	0.468	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087		31	289	31	289	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107584880	107584880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:107584880G>A	ENST00000374736.3	-	19	3119	c.2725C>T	c.(2725-2727)Cga>Tga	p.R909*	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	909	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.R909*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ATCCCATCTCGGTAGACTTTT	0.542																																						uc004bcl.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17	GRCh37	CD013124|CM003220	ABCA1	D|M		c.(2725-2727)CGA>TGA		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						135.0	129.0	131.0					9																	107584880		2203	4300	6503	SO:0001587	stop_gained	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107584880G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2725C>T	9.37:g.107584880G>A	ENSP00000363868:p.Arg909*						p.R909*	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	19	3038	-			909			ABC transporter 1.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Nonsense_Mutation	SNP	ENST00000374736.3	37	c.2725C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	45	11.908806	0.99616	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.79	5.79	0.91817	.	0.155416	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	20.0263	0.97523	0.0:0.0:1.0:0.0	.	.	.	.	X	909	.	ENSP00000363868:R909X	R	-	1	2	ABCA1	106624701	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.107000	0.64603	2.735000	0.93741	0.655000	0.94253	CGA		PASS	0.542	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		60	232	60	232	---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116359128	116359128	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:116359128G>T	ENST00000374140.2	+	26	3701	c.3492G>T	c.(3490-3492)caG>caT	p.Q1164H	RGS3_ENST00000342620.5_Missense_Mutation_p.Q134H|RGS3_ENST00000462403.1_Missense_Mutation_p.Q277H|RGS3_ENST00000343817.5_Missense_Mutation_p.Q883H|RGS3_ENST00000350696.5_Missense_Mutation_p.Q1164H|RGS3_ENST00000462143.1_Missense_Mutation_p.Q485H|RGS3_ENST00000394646.3_Missense_Mutation_p.Q557H|RGS3_ENST00000374134.3_Missense_Mutation_p.Q485H	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1164	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Q277H(1)|p.Q1164H(1)|p.Q1060H(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						ACCTGGCACAGAAGCGCATCT	0.597																																						uc004bhq.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|lung(1)|skin(1)	3						c.(3490-3492)CAG>CAT		regulator of G-protein signalling 3 isoform 6							149.0	119.0	129.0					9																	116359128		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116359128G>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3492G>T	9.37:g.116359128G>T	ENSP00000363255:p.Gln1164His					RGS3_uc004bhs.2_Missense_Mutation_p.Q1054H|RGS3_uc004bht.2_Missense_Mutation_p.Q883H|RGS3_uc010muy.2_Missense_Mutation_p.Q557H|RGS3_uc004bhv.2_Missense_Mutation_p.Q485H|RGS3_uc004bhw.2_Missense_Mutation_p.Q134H|RGS3_uc011lxh.1_Missense_Mutation_p.Q474H|RGS3_uc004bhx.2_Missense_Mutation_p.Q485H|RGS3_uc004bhz.2_Missense_Mutation_p.Q506H|RGS3_uc004bia.2_Missense_Mutation_p.Q277H	p.Q1164H	NM_144488	NP_652759	P49796	RGS3_HUMAN			26	3701	+			1164			RGS.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.3492G>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937905	0.73557	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000342620;ENST00000374134;ENST00000462403	T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.36	2.52	0.30459	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.75860	0.3907	H	0.98980	4.39	0.52501	D	0.999953	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.80009	-0.1562	10	0.87932	D	0	.	10.443	0.44477	0.2147:0.0:0.7853:0.0	.	557;277;1060;883;1054;1164	B3KUB2;Q5VZ06;P49796-6;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	H	1164;1164;883;557;332;485;134;485;277	ENSP00000363255:Q1164H;ENSP00000259406:Q1164H;ENSP00000340284:Q883H;ENSP00000378141:Q557H;ENSP00000420356:Q485H;ENSP00000343359:Q134H;ENSP00000363249:Q485H;ENSP00000436168:Q277H	ENSP00000343359:Q134H	Q	+	3	2	RGS3	115398949	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	2.920000	0.48844	0.253000	0.21552	-0.263000	0.10527	CAG		PASS	0.597	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		46	183	46	183	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	121976431	121976431	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:121976431G>A	ENST00000265922.3	-	6	1149	c.688C>T	c.(688-690)Ctt>Ttt	p.L230F	BRINP1_ENST00000373964.2_Missense_Mutation_p.L230F	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	230	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.L230F(1)									ATTATCTGAAGACCTGTGTGA	0.423																																						uc004bkc.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(688-690)CTT>TTT		deleted in bladder cancer 1 precursor							63.0	59.0	60.0					9																	121976431		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121976431G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.688C>T	9.37:g.121976431G>A	ENSP00000265922:p.Leu230Phe					DBC1_uc004bkd.2_Missense_Mutation_p.L230F	p.L230F	NM_014618	NP_055433	O60477	DBC1_HUMAN			6	1144	-			230			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.688C>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.150351	0.57151	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.59224	1.87;0.28	5.54	5.54	0.83059	Membrane attack complex component/perforin (MACPF) domain (1);	0.061993	0.64402	D	0.000003	T	0.70064	0.3181	L	0.39898	1.24	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.75484	0.986;0.969	T	0.71968	-0.4432	10	0.72032	D	0.01	-10.203	18.4665	0.90757	0.0:0.0:1.0:0.0	.	230;230	O60477-2;O60477	.;DBC1_HUMAN	F	230	ENSP00000265922:L230F;ENSP00000363075:L230F	ENSP00000265922:L230F	L	-	1	0	DBC1	121016252	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.390000	0.73204	2.601000	0.87937	0.655000	0.94253	CTT		PASS	0.423	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		5	114	5	114	---	---	---	---
PRRC2B	84726	broad.mit.edu	37	9	134350753	134350753	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:134350753G>T	ENST00000357304.4	+	15	3292	c.3237G>T	c.(3235-3237)cgG>cgT	p.R1079R	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1079							poly(A) RNA binding (GO:0044822)	p.R1079R(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TTCGTGGTCGGCCTGCTGGCG	0.647																																						uc004can.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(3235-3237)CGG>CGT		HLA-B associated transcript 2-like							14.0	17.0	16.0					9																	134350753		1855	4092	5947	SO:0001819	synonymous_variant	84726						protein binding	g.chr9:134350753G>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3237G>T	9.37:g.134350753G>T						BAT2L1_uc010mzj.1_Silent_p.R662R|BAT2L1_uc004cao.3_Silent_p.R437R	p.R1079R	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			15	3292	+			1079					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	ENST00000357304.4	37	c.3237G>T	CCDS48044.1																																																																																				PASS	0.647	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	37	8	37	---	---	---	---
NTNG2	84628	broad.mit.edu	37	9	135073852	135073852	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr9:135073852A>G	ENST00000393229.3	+	3	1489	c.713A>G	c.(712-714)gAg>gGg	p.E238G	NTNG2_ENST00000372179.3_Missense_Mutation_p.E238G|NTNG2_ENST00000393228.4_Missense_Mutation_p.E238G|NTNG2_ENST00000360670.3_Missense_Mutation_p.E238G	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	238	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)		p.E238G(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACGCGGCTGGAGAGCGCCAAG	0.662																																						uc004cbh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(712-714)GAG>GGG		netrin G2 precursor							53.0	55.0	54.0					9																	135073852		2203	4299	6502	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073852A>G	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.713A>G	9.37:g.135073852A>G	ENSP00000376921:p.Glu238Gly						p.E238G	NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	3	1489	+			238			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.713A>G	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.960815	0.92791	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.70631	0.75;0.99;0.92;-0.5	5.37	5.37	0.77165	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.82646	0.5082	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.84307	0.0508	10	0.59425	D	0.04	.	14.5467	0.68035	1.0:0.0:0.0:0.0	.	238	Q96CW9	NTNG2_HUMAN	G	238	ENSP00000376921:E238G;ENSP00000376920:E238G;ENSP00000353888:E238G;ENSP00000361252:E238G	ENSP00000353888:E238G	E	+	2	0	NTNG2	134063673	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.326000	0.96389	2.021000	0.59480	0.459000	0.35465	GAG		PASS	0.662	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		29	167	29	167	---	---	---	---
LARP4B	23185	broad.mit.edu	37	10	871222	871222	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:871222G>C	ENST00000316157.3	-	12	1307	c.1267C>G	c.(1267-1269)Cct>Gct	p.P423A		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	423					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.P423A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCTGCACTAGGAATCGCATGC	0.383																																						uc001ifs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1267-1269)CCT>GCT		La ribonucleoprotein domain family, member 4B							98.0	105.0	103.0					10																	871222		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:871222G>C	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1267C>G	10.37:g.871222G>C	ENSP00000326128:p.Pro423Ala						p.P423A	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			12	1308	-			423					A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.1267C>G	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010750	0.54361	.	.	ENSG00000107929	ENST00000316157	T	0.31247	1.5	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.48314	0.1493	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.15867	-1.0422	10	0.15066	T	0.55	-12.8268	19.555	0.95342	0.0:0.0:1.0:0.0	.	423	Q92615	LAR4B_HUMAN	A	423	ENSP00000326128:P423A	ENSP00000326128:P423A	P	-	1	0	LARP4B	861222	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	5.330000	0.65899	2.640000	0.89533	0.655000	0.94253	CCT		PASS	0.383	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155		44	336	44	336	---	---	---	---
ASB13	79754	broad.mit.edu	37	10	5682753	5682753	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:5682753C>T	ENST00000357700.6	-	6	776	c.750G>A	c.(748-750)ttG>ttA	p.L250L	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	250	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.L250L(1)		NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TGGCCTTCCTCAAGTTCACCC	0.522																																						uc001iig.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(748-750)TTG>TTA		ankyrin repeat and SOCS box-containing protein							103.0	97.0	99.0					10																	5682753		2203	4300	6503	SO:0001819	synonymous_variant	79754				intracellular signal transduction		protein binding	g.chr10:5682753C>T	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.750G>A	10.37:g.5682753C>T						ASB13_uc001iii.2_RNA|ASB13_uc001iih.2_RNA|ASB13_uc009xic.2_Silent_p.L250L	p.L250L	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN		GBM - Glioblastoma multiforme(2;9.59e-09)	6	794	-			250			SOCS box.		A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Silent	SNP	ENST00000357700.6	37	c.750G>A	CCDS7070.1																																																																																				PASS	0.522	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			54	255	54	255	---	---	---	---
MCM10	55388	broad.mit.edu	37	10	13228254	13228254	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:13228254G>A	ENST00000484800.2	+	9	1295	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	MCM10_ENST00000378714.3_Missense_Mutation_p.E397K|MCM10_ENST00000378694.1_Missense_Mutation_p.E397K			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	398	Zinc finger-like 1.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.E398K(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GAAGAATGGAGAGCCGTGCAC	0.423																																						uc001ima.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1192-1194)GAG>AAG		minichromosome maintenance complex component 10							187.0	172.0	177.0					10																	13228254		2203	4300	6503	SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13228254G>A	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1192G>A	10.37:g.13228254G>A	ENSP00000418268:p.Glu398Lys					MCM10_uc001imb.2_Missense_Mutation_p.E397K|MCM10_uc001imc.2_Missense_Mutation_p.E397K	p.E398K	NM_182751	NP_877428	Q7L590	MCM10_HUMAN			9	1293	+			398			Zinc finger-like.		A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.1192G>A	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245704	0.59103	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.41400	1.0;1.0;1.0	5.57	2.66	0.31614	Zinc finger, Mcm10/DnaG-type (1);	0.240473	0.47093	D	0.000249	T	0.29321	0.0730	N	0.11255	0.115	0.41993	D	0.990852	P;B;B	0.38223	0.623;0.031;0.039	P;B;B	0.45913	0.497;0.061;0.1	T	0.05886	-1.0858	10	0.02654	T	1	-20.5607	16.786	0.85575	0.0:0.4121:0.5879:0.0	.	397;397;398	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	K	397;398;398;397	ENSP00000367986:E397K;ENSP00000418268:E398K;ENSP00000367966:E397K	ENSP00000354945:E398K	E	+	1	0	MCM10	13268260	1.000000	0.71417	0.138000	0.22173	0.250000	0.25880	5.359000	0.66074	0.273000	0.22049	0.561000	0.74099	GAG		PASS	0.423	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		34	210	34	210	---	---	---	---
C10orf111	221060	broad.mit.edu	37	10	15138466	15138466	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:15138466G>C	ENST00000378207.3	-	2	631	c.358C>G	c.(358-360)Ctc>Gtc	p.L120V	RPP38_ENST00000378202.5_5'Flank|RPP38_ENST00000378197.4_5'Flank	NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	120						integral component of membrane (GO:0016021)		p.L120V(1)		lung(5)|upper_aerodigestive_tract(1)	6						AAAGCGGGGAGAAGGAGGAGG	0.463																																						uc001inw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)CTC>GTC		hypothetical protein LOC221060							91.0	93.0	92.0					10																	15138466		2203	4300	6503	SO:0001583	missense	221060					integral to membrane		g.chr10:15138466G>C	BC029034	CCDS7107.1	10p13	2004-04-20			ENSG00000176236	ENSG00000176236			28582	protein-coding gene	gene with protein product						12477932	Standard	NM_153244		Approved	MGC35468, bA455B2.4	uc001inw.3	Q8N326	OTTHUMG00000017727	ENST00000378207.3:c.358C>G	10.37:g.15138466G>C	ENSP00000367449:p.Leu120Val					RPP38_uc001iny.3_5'Flank|RPP38_uc009xjm.2_5'Flank|RPP38_uc001inx.3_5'Flank	p.L120V	NM_153244	NP_694976	Q8N326	CJ111_HUMAN			2	632	-			120			Helical; (Potential).		B2RAC4	Missense_Mutation	SNP	ENST00000378207.3	37	c.358C>G	CCDS7107.1	.	.	.	.	.	.	.	.	.	.	G	7.156	0.584785	0.13749	.	.	ENSG00000176236	ENST00000378207	T	0.56103	0.48	2.91	-0.166	0.13351	.	.	.	.	.	T	0.23133	0.0559	N	0.08118	0	0.09310	N	1	P	0.36837	0.571	B	0.29663	0.105	T	0.16129	-1.0413	9	0.87932	D	0	.	1.6017	0.02675	0.1287:0.2097:0.4466:0.2149	.	120	Q8N326	CJ111_HUMAN	V	120	ENSP00000367449:L120V	ENSP00000367449:L120V	L	-	1	0	C10orf111	15178472	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.047000	0.14056	-0.033000	0.13736	-0.693000	0.03709	CTC		PASS	0.463	C10orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046975.1	NM_153244		29	199	29	199	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17032462	17032462	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:17032462G>T	ENST00000377833.4	-	29	4286	c.4221C>A	c.(4219-4221)ttC>ttA	p.F1407L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1407	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.F1407L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTGTTGGGGAACCCGGGGC	0.527																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(4219-4221)TTC>TTA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						98.0	96.0	97.0					10																	17032462		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17032462G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4221C>A	10.37:g.17032462G>T	ENSP00000367064:p.Phe1407Leu						p.F1407L	NM_001081	NP_001072	O60494	CUBN_HUMAN			29	4273	-			1407			CUB 9.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.4221C>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330879	0.24167	.	.	ENSG00000107611	ENST00000377833	T	0.20200	2.09	5.77	-2.5	0.06384	CUB (5);	0.000000	0.39544	N	0.001321	T	0.27524	0.0676	M	0.89214	3.015	0.80722	D	1	B	0.24675	0.109	B	0.30105	0.111	T	0.05257	-1.0896	10	0.72032	D	0.01	.	7.8687	0.29552	0.591:0.0:0.2928:0.1162	.	1407	O60494	CUBN_HUMAN	L	1407	ENSP00000367064:F1407L	ENSP00000367064:F1407L	F	-	3	2	CUBN	17072468	1.000000	0.71417	0.177000	0.23020	0.024000	0.10985	0.754000	0.26390	-0.866000	0.04068	-0.793000	0.03317	TTC		PASS	0.527	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		14	171	14	171	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21804495	21804495	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:21804495G>C	ENST00000449193.2	-	4	4509	c.2257C>G	c.(2257-2259)Caa>Gaa	p.Q753E	SKIDA1_ENST00000444772.3_Missense_Mutation_p.Q674E	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	672						nucleus (GO:0005634)		p.Q753E(2)									CCCTGACTTTGAGCCAGTGGA	0.453																																						uc009xkd.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2257-2259)CAA>GAA		hypothetical protein LOC387640							165.0	158.0	160.0					10																	21804495		1856	4094	5950	SO:0001583	missense	387640					nucleus	nucleotide binding	g.chr10:21804495G>C	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2257C>G	10.37:g.21804495G>C	ENSP00000410041:p.Gln753Glu					uc001iqp.1_Intron	p.Q753E	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	4510	-			672					B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	c.2257C>G	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248718	0.39797	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.87	5.87	0.94306	.	0.799662	0.11645	N	0.543376	T	0.49898	0.1584	L	0.27053	0.805	0.33876	D	0.635561	B	0.26672	0.156	B	0.21917	0.037	T	0.52983	-0.8502	9	0.34782	T	0.22	-11.2965	19.5705	0.95413	0.0:0.0:1.0:0.0	.	753	E9PAX1	.	E	753;674	.	ENSP00000442432:Q674E	Q	-	1	0	C10orf140	21844501	1.000000	0.71417	0.946000	0.38457	0.997000	0.91878	5.730000	0.68546	2.941000	0.99782	0.655000	0.94253	CAA		PASS	0.453	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		109	527	109	527	---	---	---	---
MLLT10	8028	broad.mit.edu	37	10	22002880	22002880	+	Splice_Site	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:22002880G>T	ENST00000307729.7	+	14	2056		c.e14+1		MLLT10_ENST00000377072.3_Splice_Site|MLLT10_ENST00000377059.3_Splice_Site|MLLT10_ENST00000446906.2_Splice_Site			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.?(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TACAACTCAGGTAAGTTGTTA	0.458			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqs.2				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		2	Unknown(2)		lung(2)	lung(1)|skin(1)	2						c.e15+1		myeloid/lymphoid or mixed-lineage leukemia							69.0	62.0	65.0					10																	22002880		2203	4300	6503	SO:0001630	splice_region_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22002880G>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1878+1G>T	10.37:g.22002880G>T						MLLT10_uc001iqt.2_Splice_Site_p.Q626_splice|MLLT10_uc001iqv.2_Splice_Site|MLLT10_uc001iqy.2_Splice_Site_p.Q626_splice|MLLT10_uc001ira.2_Splice_Site_p.Q83_splice|MLLT10_uc001irb.2_Splice_Site	p.Q642_splice	NM_004641	NP_004632	P55197	AF10_HUMAN			15	2274	+								B1ANA8|Q5JT37|Q5VX90|Q66K63	Splice_Site	SNP	ENST00000307729.7	37	c.1926_splice	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694606	0.48202	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.126	0.97982	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLLT10	22042886	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	6.778000	0.75043	2.749000	0.94314	0.655000	0.94253	.		PASS	0.458	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1		Intron	32	51	32	51	---	---	---	---
ZNF438	220929	broad.mit.edu	37	10	31133898	31133898	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:31133898C>G	ENST00000361310.3	-	7	2808	c.2479G>C	c.(2479-2481)Gag>Cag	p.E827Q	ZNF438_ENST00000538351.2_Missense_Mutation_p.E778Q|ZNF438_ENST00000413025.1_Missense_Mutation_p.E827Q|ZNF438_ENST00000375311.1_Missense_Mutation_p.E391Q|ZNF438_ENST00000452305.1_Missense_Mutation_p.E817Q|ZNF438_ENST00000436087.2_Missense_Mutation_p.E827Q|ZNF438_ENST00000331737.6_Missense_Mutation_p.E817Q|ZNF438_ENST00000442986.1_Missense_Mutation_p.E827Q|ZNF438_ENST00000444692.2_Missense_Mutation_p.E817Q			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	827					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E827K(1)|p.E827Q(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCTCATTTCTCAGCTTCACTG	0.512																																						uc010qdz.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(2479-2481)GAG>CAG		zinc finger protein 438 isoform a							164.0	169.0	167.0					10																	31133898		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31133898C>G	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.2479G>C	10.37:g.31133898C>G	ENSP00000354663:p.Glu827Gln					ZNF438_uc001ivn.2_Missense_Mutation_p.E778Q|ZNF438_uc010qdy.1_Missense_Mutation_p.E817Q|ZNF438_uc001ivo.3_Missense_Mutation_p.E391Q|ZNF438_uc009xlg.2_Missense_Mutation_p.E827Q|ZNF438_uc001ivp.3_Missense_Mutation_p.E817Q|ZNF438_uc010qea.1_Missense_Mutation_p.E827Q|ZNF438_uc010qeb.1_Missense_Mutation_p.E827Q	p.E827Q	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			8	2914	-		Prostate(175;0.0587)	827					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.2479G>C	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750972	0.49257	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.10960	2.87;2.88;2.88;2.88;2.88;2.87;2.87;2.88;2.82	5.5	2.63	0.31362	.	0.789542	0.12290	N	0.482076	T	0.15478	0.0373	L	0.50333	1.59	0.09310	N	1	P;P	0.49090	0.868;0.919	B;P	0.48795	0.386;0.59	T	0.10870	-1.0611	10	0.62326	D	0.03	-0.9858	8.1793	0.31300	0.0:0.7623:0.0:0.2377	.	827;817	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	Q	817;827;827;827;827;817;817;778;546;391	ENSP00000333571:E817Q;ENSP00000354663:E827Q;ENSP00000406934:E827Q;ENSP00000412363:E827Q;ENSP00000387546:E827Q;ENSP00000413060:E817Q;ENSP00000410898:E817Q;ENSP00000445461:E778Q;ENSP00000364460:E391Q	ENSP00000333571:E817Q	E	-	1	0	ZNF438	31173904	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.076000	0.14712	0.366000	0.24427	0.655000	0.94253	GAG		PASS	0.512	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		114	641	114	641	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37454038	37454038	+	Silent	SNP	A	A	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:37454038A>C	ENST00000602533.1	+	18	1950	c.1851A>C	c.(1849-1851)tcA>tcC	p.S617S	ANKRD30A_ENST00000361713.1_Silent_p.S617S|ANKRD30A_ENST00000374660.1_Silent_p.S617S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	673					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S617S(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TACTCCCATCAGAATCCAAAC	0.289																																						uc001iza.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1849-1851)TCA>TCC		ankyrin repeat domain 30A							110.0	105.0	106.0					10																	37454038		1801	4062	5863	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37454038A>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1851A>C	10.37:g.37454038A>C							p.S617S	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			18	1950	+			673					Q5W025	Silent	SNP	ENST00000602533.1	37	c.1851A>C																																																																																					PASS	0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		22	69	22	69	---	---	---	---
ZNF239	8187	broad.mit.edu	37	10	44053157	44053157	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:44053157C>T	ENST00000306006.6	-	2	1023	c.371G>A	c.(370-372)gGa>gAa	p.G124E	ZNF239_ENST00000374446.2_Missense_Mutation_p.G124E|ZNF239_ENST00000535642.1_Missense_Mutation_p.G124E|ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000426961.1_Missense_Mutation_p.G124E	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G124E(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CAGTTCTTGTCCATCAGACAC	0.423																																						uc001jaw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GGA>GAA		zinc finger protein 239							123.0	112.0	115.0					10																	44053157		1854	4096	5950	SO:0001583	missense	8187				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44053157C>T	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.371G>A	10.37:g.44053157C>T	ENSP00000307774:p.Gly124Glu					ZNF239_uc001jax.3_Missense_Mutation_p.G124E|ZNF239_uc009xmj.2_Missense_Mutation_p.G124E|ZNF239_uc009xmk.2_Missense_Mutation_p.G124E	p.G124E	NM_005674	NP_005665	Q16600	ZN239_HUMAN			2	1024	-			124					Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	c.371G>A	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	C	9.370	1.070325	0.20147	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.05258	3.47;3.47;3.47;3.47	4.37	-0.834	0.10779	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B	0.21520	0.057	B	0.18871	0.023	T	0.47935	-0.9078	9	0.07644	T	0.81	.	6.6928	0.23183	0.3919:0.5139:0.0942:0.0	.	124	Q16600	ZN239_HUMAN	E	124	ENSP00000307774:G124E;ENSP00000363569:G124E;ENSP00000398202:G124E;ENSP00000443907:G124E	ENSP00000307774:G124E	G	-	2	0	ZNF239	43373163	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.137000	0.11455	-0.262000	0.10625	GGA		PASS	0.423	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			25	163	25	163	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55569207	55569207	+	Missense_Mutation	SNP	G	G	A	rs145418788	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:55569207G>A	ENST00000395445.1	-	36	4997	c.4603C>T	c.(4603-4605)Cct>Tct	p.P1535S	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.P731S|PCDH15_ENST00000395440.1_Missense_Mutation_p.P469S|PCDH15_ENST00000395442.1_Missense_Mutation_p.P400S|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGTATGTAGGCTCAGCTGCT	0.398										HNSCC(58;0.16)			G|||	8	0.00159744	0.0061	0.0	5008	,	,		19350	0.0		0.0	False		,,,				2504	0.0					uc010qhs.1																			0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4618-4620)CCT>TCT		protocadherin 15 isoform CD2-1 precursor		G	SER/PRO,,,	17,3119		0,17,1551	195.0	184.0	188.0		4618,,,	4.9	0.6	10	dbSNP_134	188	0,7164		0,0,3582	yes	missense,utr-3,intron,intron	PCDH15	NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1	74,,,	0,17,5133	AA,AG,GG		0.0,0.5421,0.165	,,,	1540/1791,,,	55569207	17,10283	1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55569207G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4603C>T	10.37:g.55569207G>A	ENSP00000378832:p.Pro1535Ser	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.P1533S|PCDH15_uc010qhu.1_3'UTR	p.P1540S	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5013	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37	c.4618C>T		5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	15.98	2.991679	0.54041	0.005421	0.0	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.74632	-0.44;-0.86;-0.33;-0.42	5.88	4.91	0.64330	.	.	.	.	.	T	0.50905	0.1643	N	0.19112	0.55	0.28885	N	0.894207	B;B	0.20887	0.049;0.049	B;B	0.22386	0.039;0.039	T	0.48625	-0.9019	9	0.46703	T	0.11	.	7.7941	0.29138	0.0:0.2385:0.5181:0.2434	.	1533;1535	C6ZEF5;A2A3E2	.;.	S	1535;731;400;469	ENSP00000378832:P1535S;ENSP00000378833:P731S;ENSP00000378829:P400S;ENSP00000378827:P469S	ENSP00000378827:P469S	P	-	1	0	PCDH15	55239213	0.015000	0.18098	0.613000	0.29037	0.735000	0.41995	1.112000	0.31172	2.778000	0.95560	0.655000	0.94253	CCT		PASS	0.398	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		44	206	44	206	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55626488	55626488	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:55626488G>T	ENST00000320301.6	-	27	4025	c.3631C>A	c.(3631-3633)Cat>Aat	p.H1211N	PCDH15_ENST00000373965.2_Missense_Mutation_p.H1218N|PCDH15_ENST00000361849.3_Missense_Mutation_p.H1211N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.H1174N|PCDH15_ENST00000395445.1_Missense_Mutation_p.H1218N|PCDH15_ENST00000395430.1_Missense_Mutation_p.H1211N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.H1140N|PCDH15_ENST00000395433.1_Missense_Mutation_p.H1189N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.H822N|PCDH15_ENST00000395438.1_Missense_Mutation_p.H1211N|PCDH15_ENST00000414778.1_Missense_Mutation_p.H1216N|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1211	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.H1216N(2)|p.H1211N(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCATATTATGGAAGAGCATA	0.403										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3631-3633)CAT>AAT		protocadherin 15 isoform CD1-4 precursor							151.0	132.0	138.0					10																	55626488		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55626488G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3631C>A	10.37:g.55626488G>T	ENSP00000322604:p.His1211Asn	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.H1216N|PCDH15_uc010qhr.1_Missense_Mutation_p.H1211N|PCDH15_uc010qhs.1_Missense_Mutation_p.H1223N|PCDH15_uc010qht.1_Missense_Mutation_p.H1218N|PCDH15_uc010qhu.1_Missense_Mutation_p.H1211N|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.H1211N|PCDH15_uc010qhw.1_Missense_Mutation_p.H1174N|PCDH15_uc010qhx.1_Missense_Mutation_p.H1140N|PCDH15_uc010qhy.1_Missense_Mutation_p.H1216N|PCDH15_uc010qhz.1_Missense_Mutation_p.H1211N|PCDH15_uc010qia.1_Missense_Mutation_p.H1189N|PCDH15_uc010qib.1_Missense_Mutation_p.H1189N	p.H1211N	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			27	4026	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1211			Cadherin 11.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3631C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038684	0.55003	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.69	4.72	0.59763	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40886	0.1135	N	0.05050	-0.12	0.27895	N	0.939186	B;P;B;B;P;P;B;B;B;B;B;P;B	0.45957	0.387;0.542;0.409;0.232;0.869;0.542;0.387;0.047;0.139;0.139;0.002;0.542;0.409	P;B;B;B;P;P;P;B;B;B;B;B;B	0.56343	0.566;0.348;0.348;0.247;0.796;0.464;0.566;0.14;0.18;0.18;0.029;0.388;0.247	T	0.20974	-1.0259	9	0.30854	T	0.27	.	11.1577	0.48497	0.0:0.0:0.6157:0.3843	.	1189;1211;1211;1216;1140;1174;1211;1211;1218;1218;1211;1216;1211	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	1218;1216;1211;1211;822;1218;1174;1211;1189;1211;1211;1216;1140	ENSP00000363076:H1218N;ENSP00000410304:H1216N;ENSP00000378826:H1211N;ENSP00000386693:H822N;ENSP00000378832:H1218N;ENSP00000378820:H1174N;ENSP00000354950:H1211N;ENSP00000378821:H1189N;ENSP00000322604:H1211N;ENSP00000378818:H1211N;ENSP00000412628:H1140N	ENSP00000322604:H1211N	H	-	1	0	PCDH15	55296494	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.766000	0.62279	2.679000	0.91253	0.655000	0.94253	CAT		PASS	0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		22	106	22	106	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	56138598	56138598	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:56138598C>A	ENST00000320301.6	-	4	656	c.262G>T	c.(262-264)Gat>Tat	p.D88Y	PCDH15_ENST00000373965.2_Missense_Mutation_p.D88Y|PCDH15_ENST00000361849.3_Missense_Mutation_p.D88Y|PCDH15_ENST00000395446.1_Missense_Mutation_p.D88Y|PCDH15_ENST00000395432.2_Missense_Mutation_p.D88Y|PCDH15_ENST00000395445.1_Missense_Mutation_p.D88Y|PCDH15_ENST00000395430.1_Missense_Mutation_p.D88Y|PCDH15_ENST00000395440.1_Missense_Mutation_p.D88Y|PCDH15_ENST00000373955.1_Missense_Mutation_p.D88Y|PCDH15_ENST00000395442.1_Missense_Mutation_p.D88Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D88Y|PCDH15_ENST00000395433.1_Missense_Mutation_p.D66Y|PCDH15_ENST00000373957.3_Missense_Mutation_p.D66Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.D88Y|PCDH15_ENST00000414778.1_Missense_Mutation_p.D93Y	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.D88Y(3)|p.D93Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTAACAGGATCCATCAACACC	0.403										HNSCC(58;0.16)																												uc001jju.1																			5	Substitution - Missense(5)		lung(5)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(262-264)GAT>TAT		protocadherin 15 isoform CD1-4 precursor							144.0	152.0	149.0					10																	56138598		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56138598C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.262G>T	10.37:g.56138598C>A	ENSP00000322604:p.Asp88Tyr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.D93Y|PCDH15_uc010qhr.1_Missense_Mutation_p.D88Y|PCDH15_uc010qhs.1_Missense_Mutation_p.D93Y|PCDH15_uc010qht.1_Missense_Mutation_p.D88Y|PCDH15_uc010qhu.1_Missense_Mutation_p.D88Y|PCDH15_uc001jjv.1_Missense_Mutation_p.D66Y|PCDH15_uc010qhv.1_Missense_Mutation_p.D88Y|PCDH15_uc010qhw.1_Missense_Mutation_p.D88Y|PCDH15_uc010qhx.1_Missense_Mutation_p.D88Y|PCDH15_uc010qhy.1_Missense_Mutation_p.D93Y|PCDH15_uc010qhz.1_Missense_Mutation_p.D88Y|PCDH15_uc010qia.1_Missense_Mutation_p.D66Y|PCDH15_uc010qib.1_Missense_Mutation_p.D66Y|PCDH15_uc001jjw.2_Missense_Mutation_p.D88Y	p.D88Y	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			4	657	-		Melanoma(3;0.117)|Lung SC(717;0.238)	88			Cadherin 1.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.262G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820630	0.90873	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59364	0.41;0.44;0.39;0.38;0.37;0.62;0.52;0.27;0.3;0.32;0.27;0.3;0.3;0.37;0.47;0.41	5.5	5.5	0.81552	Cadherin (1);	.	.	.	.	T	0.66277	0.2773	L	0.29908	0.895	0.51012	D	0.999907	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999;1.0;0.997;1.0;0.999;0.997;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.77557	0.99;0.976;0.984;0.984;0.984;0.976;0.99;0.971;0.984;0.976;0.971;0.971;0.978;0.95;0.984	T	0.61441	-0.7062	9	0.26408	T	0.33	.	18.9828	0.92761	0.0:1.0:0.0:0.0	.	66;88;88;93;88;88;88;88;88;88;88;93;88;66;88	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Y	88;93;88;88;88;88;88;88;88;88;66;66;88;88;93;88;88;88	ENSP00000363076:D88Y;ENSP00000410304:D93Y;ENSP00000378826:D88Y;ENSP00000378832:D88Y;ENSP00000378833:D88Y;ENSP00000378829:D88Y;ENSP00000378827:D88Y;ENSP00000378820:D88Y;ENSP00000354950:D88Y;ENSP00000378821:D66Y;ENSP00000363068:D66Y;ENSP00000322604:D88Y;ENSP00000378818:D88Y;ENSP00000412628:D88Y;ENSP00000363066:D88Y;ENSP00000394465:D88Y	ENSP00000322604:D88Y	D	-	1	0	PCDH15	55808604	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.082000	0.71318	2.611000	0.88343	0.643000	0.83706	GAT		PASS	0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		78	278	78	278	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61835776	61835776	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:61835776G>A	ENST00000280772.2	-	37	5054	c.4863C>T	c.(4861-4863)tcC>tcT	p.S1621S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1621	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S1621S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGTTCGAGAGGAAAACGTAG	0.478																																						uc001jky.2																			1	Substitution - coding silent(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(4861-4863)TCC>TCT		ankyrin 3 isoform 1							72.0	75.0	74.0					10																	61835776		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835776G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4863C>T	10.37:g.61835776G>A						ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.S1621S	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	5055	-			1621			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.4863C>T	CCDS7258.1																																																																																				PASS	0.478	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		26	118	26	118	---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70143566	70143566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:70143566G>A	ENST00000602465.1	-	10	1028	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	RUFY2_ENST00000388768.2_Nonsense_Mutation_p.Q345*|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Nonsense_Mutation_p.Q276*|RUFY2_ENST00000454950.2_Nonsense_Mutation_p.Q252*			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	359						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.Q345*(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TGTCGTAACTGAGATTCATCT	0.383																																						uc001job.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1033-1035)CAG>TAG		RUN and FYVE domain-containing 2 isoform a							165.0	153.0	157.0					10																	70143566		1880	4121	6001	SO:0001587	stop_gained	55680					nucleus	metal ion binding	g.chr10:70143566G>A	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.928C>T	10.37:g.70143566G>A	ENSP00000473462:p.Gln310*					RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Nonsense_Mutation_p.Q276*|RUFY2_uc010qiw.1_Nonsense_Mutation_p.Q252*|RUFY2_uc001jod.1_Nonsense_Mutation_p.Q310*	p.Q345*	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			10	1360	-			359			Potential.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Nonsense_Mutation	SNP	ENST00000602465.1	37	c.1033C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.829997	0.96996	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950	.	.	.	5.08	5.08	0.68730	.	0.055302	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	18.6498	0.91427	0.0:0.0:1.0:0.0	.	.	.	.	X	345;276;252	.	ENSP00000373420:Q345X	Q	-	1	0	RUFY2	69813572	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	9.213000	0.95133	2.638000	0.89438	0.573000	0.79308	CAG		PASS	0.383	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		14	251	14	251	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70405228	70405228	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:70405228G>C	ENST00000373644.4	+	4	2951	c.2742G>C	c.(2740-2742)gaG>gaC	p.E914D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	914					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.E914D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CAAAGTCAGAGAAGGATGAGG	0.458																																						uc001jok.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(2740-2742)GAG>GAC		CXXC finger 6							79.0	83.0	82.0					10																	70405228		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70405228G>C	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2742G>C	10.37:g.70405228G>C	ENSP00000362748:p.Glu914Asp						p.E914D	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			4	3247	+			914					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.2742G>C	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086670	0.36855	.	.	ENSG00000138336	ENST00000373644	T	0.10288	2.89	5.68	1.04	0.20106	.	0.088642	0.42053	D	0.000776	T	0.05044	0.0135	N	0.24115	0.695	0.29780	N	0.834063	B	0.23540	0.087	B	0.20577	0.03	T	0.17776	-1.0358	10	0.32370	T	0.25	.	0.5672	0.00689	0.3659:0.1705:0.2891:0.1745	.	914	Q8NFU7	TET1_HUMAN	D	914	ENSP00000362748:E914D	ENSP00000362748:E914D	E	+	3	2	TET1	70075234	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	1.067000	0.30616	0.778000	0.33520	0.557000	0.71058	GAG		PASS	0.458	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		11	192	11	192	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70405706	70405706	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:70405706G>C	ENST00000373644.4	+	4	3429	c.3220G>C	c.(3220-3222)Gag>Cag	p.E1074Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1074					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.E1074Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TACCCAAATTGAGGAAGATGT	0.373																																						uc001jok.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(3220-3222)GAG>CAG		CXXC finger 6							117.0	109.0	111.0					10																	70405706		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70405706G>C	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3220G>C	10.37:g.70405706G>C	ENSP00000362748:p.Glu1074Gln						p.E1074Q	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			4	3725	+			1074					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.3220G>C	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025742	0.75390	.	.	ENSG00000138336	ENST00000373644	T	0.16897	2.31	5.7	5.7	0.88788	.	1.143240	0.06618	N	0.756902	T	0.39489	0.1080	L	0.36672	1.1	0.39692	D	0.971054	D	0.89917	1.0	D	0.83275	0.996	T	0.03717	-1.1010	10	0.59425	D	0.04	.	18.0106	0.89222	0.0:0.0:1.0:0.0	.	1074	Q8NFU7	TET1_HUMAN	Q	1074	ENSP00000362748:E1074Q	ENSP00000362748:E1074Q	E	+	1	0	TET1	70075712	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.792000	0.85828	2.702000	0.92279	0.563000	0.77884	GAG		PASS	0.373	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		7	232	7	232	---	---	---	---
STOX1	219736	broad.mit.edu	37	10	70641797	70641797	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:70641797G>A	ENST00000298596.6	+	2	477	c.394G>A	c.(394-396)Gat>Aat	p.D132N	STOX1_ENST00000399169.4_Missense_Mutation_p.D132N|STOX1_ENST00000399162.2_Missense_Mutation_p.D132N|STOX1_ENST00000399165.4_Missense_Mutation_p.D132N|STOX1_ENST00000421961.2_Missense_Mutation_p.D22N	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	132						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D132N(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TGCTATATCTGATATGAATAC	0.358																																						uc001jos.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)|skin(1)	2						c.(394-396)GAT>AAT		storkhead box 1 isoform a							163.0	148.0	153.0					10																	70641797		1862	4099	5961	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70641797G>A	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.394G>A	10.37:g.70641797G>A	ENSP00000298596:p.Asp132Asn					STOX1_uc001jor.2_Missense_Mutation_p.D132N|STOX1_uc009xpy.2_Missense_Mutation_p.D132N|STOX1_uc001joq.2_Missense_Mutation_p.D22N	p.D132N	NM_001130161	NP_001123633	Q6ZVD7	STOX1_HUMAN			2	481	+			132					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.394G>A	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978733	0.92982	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000399165;ENST00000399162;ENST00000421961	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	5.57	5.57	0.84162	Storkhead-box protein, winged-helix domain (1);	0.000000	0.85682	U	0.000000	D	0.90034	0.6888	M	0.75447	2.3	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.988;0.997;0.988	D	0.90241	0.4286	10	0.72032	D	0.01	.	19.8968	0.96969	0.0:0.0:1.0:0.0	.	132;132;132	Q6ZVD7-3;Q6ZVD7;Q6ZVD7-2	.;STOX1_HUMAN;.	N	132;132;132;132;22	ENSP00000382121:D132N;ENSP00000298596:D132N;ENSP00000382118:D132N;ENSP00000382115:D132N;ENSP00000394509:D22N	ENSP00000298596:D132N	D	+	1	0	STOX1	70311803	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.723000	0.84788	2.779000	0.95612	0.591000	0.81541	GAT		PASS	0.358	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		47	173	47	173	---	---	---	---
COL13A1	1305	broad.mit.edu	37	10	71678056	71678056	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:71678056G>T	ENST00000398978.3	+	19	1504	c.1012G>T	c.(1012-1014)Gcc>Tcc	p.A338S	COL13A1_ENST00000398969.3_Missense_Mutation_p.A281S|COL13A1_ENST00000398966.3_Missense_Mutation_p.A316S|COL13A1_ENST00000517713.1_Missense_Mutation_p.A316S|COL13A1_ENST00000398968.3_Missense_Mutation_p.A319S|COL13A1_ENST00000520133.1_Missense_Mutation_p.A287S|COL13A1_ENST00000398971.3_Missense_Mutation_p.A338S|COL13A1_ENST00000398964.3_Missense_Mutation_p.A309S|COL13A1_ENST00000398974.3_Missense_Mutation_p.A326S|COL13A1_ENST00000398973.3_Missense_Mutation_p.A338S|COL13A1_ENST00000520267.1_Missense_Mutation_p.A281S|COL13A1_ENST00000398972.3_Missense_Mutation_p.A338S|COL13A1_ENST00000522165.1_Missense_Mutation_p.A319S|COL13A1_ENST00000354547.3_Missense_Mutation_p.A316S|COL13A1_ENST00000357811.3_Missense_Mutation_p.A316S|COL13A1_ENST00000356340.3_Missense_Mutation_p.A338S	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1									p.A338S(1)|p.A321S(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						GCCCGGAATTGCCGTGGCTGG	0.592																																						uc001jpr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1012-1014)GCC>TCC		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						47.0	50.0	49.0					10																	71678056		1877	4114	5991	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71678056G>T	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1012G>T	10.37:g.71678056G>T	ENSP00000381949:p.Ala338Ser					COL13A1_uc001jqj.1_Missense_Mutation_p.A338S|COL13A1_uc001jps.1_Missense_Mutation_p.A309S|COL13A1_uc001jpt.1_Missense_Mutation_p.A297S|COL13A1_uc001jpu.1_Missense_Mutation_p.A319S|COL13A1_uc001jpv.1_Missense_Mutation_p.A338S|COL13A1_uc001jpx.1_Missense_Mutation_p.A316S|COL13A1_uc001jpw.1_Missense_Mutation_p.A285S|COL13A1_uc001jpy.1_Missense_Mutation_p.A276S|COL13A1_uc001jpz.1_Missense_Mutation_p.A281S|COL13A1_uc001jqa.1_Missense_Mutation_p.A278S|COL13A1_uc001jqc.1_Missense_Mutation_p.A338S|COL13A1_uc001jqb.1_Missense_Mutation_p.A287S|COL13A1_uc001jql.2_Missense_Mutation_p.A338S|COL13A1_uc001jqd.1_Missense_Mutation_p.A326S|COL13A1_uc001jqe.1_Missense_Mutation_p.A321S|COL13A1_uc001jqf.1_Missense_Mutation_p.A319S|COL13A1_uc001jqg.1_Missense_Mutation_p.A316S|COL13A1_uc001jqh.1_Missense_Mutation_p.A338S|COL13A1_uc001jqi.1_Missense_Mutation_p.A338S|COL13A1_uc010qjf.1_Missense_Mutation_p.A128S|COL13A1_uc001jqk.1_Missense_Mutation_p.A176S	p.A338S	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			18	1548	+			338			Extracellular (Potential).|Triple-helical region 2 (COL2).			Missense_Mutation	SNP	ENST00000398978.3	37	c.1012G>T	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	G	5.647	0.304081	0.10678	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94184	-3.37;-1.77;-1.77;-3.2;-1.77;-3.37;-3.37;-1.77;-1.77;-3.37;-3.37;-3.37;-3.37;-3.37;-1.77;-3.37	5.25	0.113	0.14631	.	0.530345	0.16876	N	0.195936	D	0.86431	0.5931	L	0.29908	0.895	0.09310	N	1	B;B;P;B;B;B;B;B;B;B;P;B;P;B;B;B;B;B;B	0.37731	0.008;0.049;0.494;0.022;0.049;0.013;0.049;0.018;0.049;0.027;0.536;0.039;0.607;0.197;0.04;0.006;0.019;0.304;0.04	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.38954	0.018;0.029;0.159;0.009;0.029;0.004;0.029;0.029;0.029;0.015;0.286;0.023;0.187;0.068;0.017;0.005;0.012;0.068;0.017	T	0.78548	-0.2162	10	0.66056	D	0.02	-0.0331	4.3883	0.11328	0.2183:0.0:0.5131:0.2686	.	281;338;338;338;338;316;319;338;326;338;287;316;316;347;338;319;316;309;338	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	326;338;319;316;309;281;338;338;338;338;316;316;281;316;319;287	ENSP00000381946:A326S;ENSP00000381943:A338S;ENSP00000381940:A319S;ENSP00000381938:A316S;ENSP00000381936:A309S;ENSP00000381941:A281S;ENSP00000348695:A338S;ENSP00000381944:A338S;ENSP00000381945:A338S;ENSP00000381949:A338S;ENSP00000346553:A316S;ENSP00000350463:A316S;ENSP00000428057:A281S;ENSP00000430061:A316S;ENSP00000428342:A319S;ENSP00000430173:A287S	ENSP00000346553:A316S	A	+	1	0	COL13A1	71348062	0.000000	0.05858	0.003000	0.11579	0.522000	0.34438	0.012000	0.13287	-0.158000	0.11040	-0.127000	0.14921	GCC		PASS	0.592	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		16	67	16	67	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95791854	95791854	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:95791854C>G	ENST00000371380.3	+	1	1286	c.1051C>G	c.(1051-1053)Ctg>Gtg	p.L351V	PLCE1_ENST00000260766.3_Missense_Mutation_p.L351V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	351					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.L351V(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTGAGAACTCTGCCTTCTGG	0.443																																						uc001kjk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1051-1053)CTG>GTG		phospholipase C, epsilon 1 isoform 1							75.0	76.0	75.0					10																	95791854		1920	4139	6059	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791854C>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1051C>G	10.37:g.95791854C>G	ENSP00000360431:p.Leu351Val					PLCE1_uc010qnx.1_Missense_Mutation_p.L351V	p.L351V	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			2	1685	+		Colorectal(252;0.0458)	351					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1051C>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952868	0.53293	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.72394	-0.65;-0.65	5.14	2.18	0.27775	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.43110	D	0.000609	T	0.70684	0.3252	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.69800	-0.5047	10	0.87932	D	0	.	7.4078	0.27001	0.0:0.5885:0.0:0.4115	.	351;351	B7ZM61;Q9P212	.;PLCE1_HUMAN	V	351	ENSP00000260766:L351V;ENSP00000360431:L351V	ENSP00000260766:L351V	L	+	1	2	PLCE1	95781844	0.894000	0.30519	0.998000	0.56505	0.970000	0.65996	1.379000	0.34340	0.521000	0.28445	0.655000	0.94253	CTG		PASS	0.443	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		9	78	9	78	---	---	---	---
CYP2C8	1558	broad.mit.edu	37	10	96824616	96824616	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:96824616G>C	ENST00000371270.3	-	4	677	c.583C>G	c.(583-585)Ctc>Gtc	p.L195V	CYP2C8_ENST00000539050.1_Missense_Mutation_p.L109V|CYP2C8_ENST00000535898.1_Missense_Mutation_p.L93V	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	195					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.L195V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	ATCAGGGTGAGAAAATTCTGA	0.408																																						uc001kkb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)CTC>GTC		cytochrome P450, family 2, subfamily C,	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						86.0	83.0	84.0					10																	96824616		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96824616G>C	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.583C>G	10.37:g.96824616G>C	ENSP00000360317:p.Leu195Val					CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.L125V|CYP2C8_uc010qob.1_Missense_Mutation_p.L109V|CYP2C8_uc010qoc.1_Missense_Mutation_p.L93V|CYP2C8_uc010qod.1_Missense_Mutation_p.L109V	p.L195V	NM_000770	NP_000761	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	4	678	-		Colorectal(252;0.0397)	195					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.583C>G	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920796	0.52653	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.69685	-0.42;-0.42;-0.42	4.45	3.55	0.40652	.	0.100149	0.41194	U	0.000928	T	0.62672	0.2447	M	0.67700	2.07	0.33119	D	0.541574	B;B;B;B	0.23490	0.012;0.074;0.086;0.074	B;B;B;B	0.26969	0.018;0.051;0.07;0.075	T	0.68934	-0.5278	10	0.87932	D	0	.	8.3298	0.32180	0.1129:0.0:0.8871:0.0	.	109;93;163;195	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	V	195;162;93;109	ENSP00000360317:L195V;ENSP00000445062:L93V;ENSP00000442343:L109V	ENSP00000360317:L195V	L	-	1	0	CYP2C8	96814606	0.219000	0.23619	0.040000	0.18447	0.683000	0.39861	0.324000	0.19610	0.867000	0.35654	0.313000	0.20887	CTC		PASS	0.408	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		8	132	8	132	---	---	---	---
ERLIN1	10613	broad.mit.edu	37	10	101911983	101911983	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:101911983C>G	ENST00000421367.2	-	11	3659	c.952G>C	c.(952-954)Gat>Cat	p.D318H	ERLIN1_ENST00000407654.3_Missense_Mutation_p.D318H	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	316					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)		p.D316H(1)					Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GTCCTAATATCTGAATATTTC	0.443																																						uc001kqn.3																			1	Substitution - Missense(1)		lung(1)		0						c.(952-954)GAT>CAT		ER lipid raft associated 1							118.0	113.0	115.0					10																	101911983		2203	4300	6503	SO:0001583	missense	10613				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr10:101911983C>G	AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"""Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"""	611604	"""chromosome 10 open reading frame 69"", ""SPFH domain family, member 1"""	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.952G>C	10.37:g.101911983C>G	ENSP00000410964:p.Asp318His					ERLIN1_uc001kqm.3_Missense_Mutation_p.D83H|ERLIN1_uc001kqo.3_Missense_Mutation_p.D318H|ERLIN1_uc010qpm.1_Missense_Mutation_p.D234H	p.D318H	NM_006459	NP_006450	O75477	ERLN1_HUMAN		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)	11	1303	-		Colorectal(252;0.234)	316			Lumenal (Potential).		B0QZ42|Q53HV0	Missense_Mutation	SNP	ENST00000421367.2	37	c.952G>C	CCDS7487.2	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146523	0.57044	.	.	ENSG00000107566	ENST00000421367;ENST00000407654	T;T	0.69561	-0.41;-0.41	5.61	5.61	0.85477	.	0.337688	0.22045	U	0.065398	T	0.45438	0.1342	N	0.03608	-0.345	0.42278	D	0.992089	B;B	0.32693	0.38;0.145	B;B	0.30943	0.122;0.122	T	0.54357	-0.8306	10	0.59425	D	0.04	-5.8427	15.5022	0.75709	0.0:1.0:0.0:0.0	.	316;318	O75477;D3DR65	ERLN1_HUMAN;.	H	318	ENSP00000410964:D318H;ENSP00000384900:D318H	ENSP00000384900:D318H	D	-	1	0	ERLIN1	101901973	0.251000	0.23961	0.986000	0.45419	0.990000	0.78478	1.377000	0.34317	2.815000	0.96918	0.561000	0.74099	GAT		PASS	0.443	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	NM_006459		25	113	25	113	---	---	---	---
SFXN3	81855	broad.mit.edu	37	10	102799340	102799340	+	Nonstop_Mutation	SNP	T	T	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:102799340T>C	ENST00000224807.5	+	12	1432	c.976T>C	c.(976-978)Tga>Cga	p.*326R	SFXN3_ENST00000393459.1_Nonstop_Mutation_p.*322R|SFXN3_ENST00000466982.1_3'UTR	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3	0					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	cation transmembrane transporter activity (GO:0008324)	p.*326R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CAAGGGGCTTTGAGGAGGGTC	0.542																																						uc001ksp.2																			1	Nonstop extension(1)		lung(1)	ovary(1)	1						c.(976-978)TGA>CGA		sideroflexin 3							140.0	120.0	127.0					10																	102799340		2203	4300	6503	SO:0001578	stop_lost	81855				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:102799340T>C	AK074707	CCDS7508.2	10q24.32	2008-09-04			ENSG00000107819	ENSG00000107819		"""Sideroflexins"""	16087	protein-coding gene	gene with protein product		615571					Standard	NM_030971		Approved	SFX3	uc001ksp.3	Q9BWM7	OTTHUMG00000018921	ENST00000224807.5:c.976T>C	10.37:g.102799340T>C	ENSP00000224807:p.*326Argext*42					SFXN3_uc001ksq.2_Nonstop_Mutation_p.*326R|SFXN3_uc010qpx.1_Nonstop_Mutation_p.*330R	p.*326R	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	12	1432	+		Colorectal(252;0.234)	326					Q8NCJ0|Q9NTP4	Nonstop_Mutation	SNP	ENST00000224807.5	37	c.976T>C	CCDS7508.2	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490224	0.64074	.	.	ENSG00000107819	ENST00000393459;ENST00000224807	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4259	0.67215	0.0:0.0:0.0:1.0	.	.	.	.	R	322;326	.	.	X	+	1	0	SFXN3	102789330	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	7.758000	0.85224	2.008000	0.58898	0.459000	0.35465	TGA		PASS	0.542	SFXN3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_030971		49	205	49	205	---	---	---	---
AS3MT	57412	broad.mit.edu	37	10	104632333	104632333	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:104632333G>C	ENST00000369880.3	+	4	376	c.299G>C	c.(298-300)gGa>gCa	p.G100A	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	100					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)	p.G100A(1)		large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CACGTGACTGGAATAGACATG	0.418																																						uc001kwk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)GGA>GCA		arsenic (+3 oxidation state) methyltransferase							95.0	95.0	95.0					10																	104632333		1922	4144	6066	SO:0001583	missense	57412				arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	g.chr10:104632333G>C	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.299G>C	10.37:g.104632333G>C	ENSP00000358896:p.Gly100Ala					AS3MT_uc001kwj.2_Missense_Mutation_p.G102A|AS3MT_uc009xxh.2_Missense_Mutation_p.G100A	p.G100A	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)	4	439	+		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	100					A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	c.299G>C	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503865	0.85176	.	.	ENSG00000214435	ENST00000369880	T	0.22539	1.95	5.31	5.31	0.75309	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	M	0.81341	2.54	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.80764	0.994;0.991;0.991	T	0.54906	-0.8223	10	0.87932	D	0	-19.3962	18.1146	0.89546	0.0:0.0:1.0:0.0	.	100;100;100	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	A	100	ENSP00000358896:G100A	ENSP00000358896:G100A	G	+	2	0	AS3MT	104622323	1.000000	0.71417	0.806000	0.32338	0.758000	0.43043	8.846000	0.92159	2.646000	0.89796	0.561000	0.74099	GGA		PASS	0.418	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682		6	105	6	105	---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105163037	105163037	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:105163037C>T	ENST00000369797.3	+	4	491	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	133	S1 motif 1. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.L133L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGAACAACCTCTGAAGGTAAG	0.418																																						uc001kwy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(397-399)CTG>TTG		programmed cell death 11							108.0	106.0	107.0					10																	105163037		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105163037C>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.397C>T	10.37:g.105163037C>T							p.L133L	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	4	484	+		Colorectal(252;0.0747)|Breast(234;0.128)	133			S1 motif 1.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.397C>T	CCDS31276.1																																																																																				PASS	0.418	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			14	246	14	246	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106916948	106916948	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:106916948T>A	ENST00000369701.3	+	10	1762	c.1535T>A	c.(1534-1536)gTg>gAg	p.V512E		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	512					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.V512E(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACGACCAGGTGAAGACATAC	0.522																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1534-1536)GTG>GAG		VPS10 domain receptor protein SORCS 3 precursor							130.0	115.0	120.0					10																	106916948		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106916948T>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1535T>A	10.37:g.106916948T>A	ENSP00000358715:p.Val512Glu						p.V512E	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	10	1762	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	512			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1535T>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.950337	0.92660	.	.	ENSG00000156395	ENST00000369701	T	0.39229	1.09	6.04	6.04	0.98038	VPS10 (1);	0.134540	0.49916	D	0.000134	T	0.69940	0.3167	M	0.89095	3.005	0.58432	D	0.999992	D	0.76494	0.999	D	0.68483	0.958	T	0.75456	-0.3311	9	.	.	.	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	512	Q9UPU3	SORC3_HUMAN	E	512	ENSP00000358715:V512E	.	V	+	2	0	SORCS3	106906938	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.317000	0.78254	0.460000	0.39030	GTG		PASS	0.522	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		28	114	28	114	---	---	---	---
BCCIP	56647	broad.mit.edu	37	10	127524684	127524684	+	Silent	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr10:127524684C>G	ENST00000278100.6	+	7	798	c.786C>G	c.(784-786)ctC>ctG	p.L262L	BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_Intron	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	262					cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)	p.L262L(1)		breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGGCAATTCTCAAGTTCAACT	0.423																																						uc001ljb.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(784-786)CTC>CTG		BRCA2 and CDKN1A-interacting protein isoform							165.0	150.0	155.0					10																	127524684		2203	4300	6503	SO:0001819	synonymous_variant	56647				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	g.chr10:127524684C>G	AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"""BRCA2 and CDKN1A-interacting protein"""			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.786C>G	10.37:g.127524684C>G						BCCIP_uc001ljd.3_Intron|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron	p.L262L	NM_078468	NP_510868	Q9P287	BCCIP_HUMAN			7	809	+		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)	262					B3KP45|Q8ND15|Q96GC4|Q9P288	Silent	SNP	ENST00000278100.6	37	c.786C>G	CCDS7651.1																																																																																				PASS	0.423	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050941.1			14	275	14	275	---	---	---	---
TSPAN32	10077	broad.mit.edu	37	11	2337820	2337820	+	Silent	SNP	C	C	G	rs200678268	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:2337820C>G	ENST00000182290.4	+	8	779	c.642C>G	c.(640-642)ctC>ctG	p.L214L	TSPAN32_ENST00000451520.2_Silent_p.L203L|TSPAN32_ENST00000381121.3_Silent_p.L214L	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	214					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)		p.L214L(1)		breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CCGCCTTGCTCTTCAGCTCCT	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		15754	0.001		0.0	False		,,,				2504	0.001					uc001lvy.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(640-642)CTC>CTG		tumor-suppressing subtransferable candidate 6							122.0	95.0	105.0					11																	2337820		2202	4299	6501	SO:0001819	synonymous_variant	10077				cell-cell signaling	integral to membrane		g.chr11:2337820C>G	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.642C>G	11.37:g.2337820C>G						TSPAN32_uc010qxk.1_3'UTR|TSPAN32_uc009ydl.1_Intron|TSPAN32_uc001lvz.1_Silent_p.L184L|TSPAN32_uc001lwb.1_Silent_p.L184L|TSPAN32_uc001lwc.1_Silent_p.L159L|TSPAN32_uc001lwd.1_Silent_p.L146L	p.L214L	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	8	779	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	214			Helical; (Potential).		Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Silent	SNP	ENST00000182290.4	37	c.642C>G	CCDS7733.1																																																																																				PASS	0.672	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		9	81	9	81	---	---	---	---
OR51A4	401666	broad.mit.edu	37	11	4967563	4967563	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:4967563G>T	ENST00000380373.2	-	1	793	c.768C>A	c.(766-768)atC>atA	p.I256I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I256I(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGGTTGATGATGGGCAGGT	0.483																																						uc010qys.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(766-768)ATC>ATA		olfactory receptor, family 51, subfamily A,							147.0	139.0	142.0					11																	4967563		2201	4298	6499	SO:0001819	synonymous_variant	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967563G>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.768C>A	11.37:g.4967563G>T							p.I256I	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	768	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	256			Helical; Name=6; (Potential).			Silent	SNP	ENST00000380373.2	37	c.768C>A	CCDS31367.1																																																																																				PASS	0.483	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		24	153	24	153	---	---	---	---
OR51I2	390064	broad.mit.edu	37	11	5474948	5474948	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:5474948C>A	ENST00000341449.2	+	1	311	c.230C>A	c.(229-231)aCa>aAa	p.T77K	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	77					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T77K(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCATGGCCACACTGCCCACT	0.507																																						uc010qzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(229-231)ACA>AAA		olfactory receptor, family 51, subfamily I,							114.0	108.0	110.0					11																	5474948		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474948C>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.230C>A	11.37:g.5474948C>A	ENSP00000341987:p.Thr77Lys					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.T77K	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	230	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	77			Extracellular (Potential).		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.230C>A	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813755	0.70912	.	.	ENSG00000187918	ENST00000341449	T	0.00530	6.77	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.083509	0.52532	D	0.000075	T	0.04318	0.0119	H	0.98048	4.135	0.35361	D	0.788198	D	0.76494	0.999	D	0.78314	0.991	T	0.03545	-1.1026	10	0.87932	D	0	.	18.291	0.90130	0.0:1.0:0.0:0.0	.	77	Q9H344	O51I2_HUMAN	K	77	ENSP00000341987:T77K	ENSP00000341987:T77K	T	+	2	0	OR51I2	5431524	0.817000	0.29147	0.995000	0.50966	0.968000	0.65278	2.925000	0.48884	2.902000	0.99343	0.650000	0.86243	ACA		PASS	0.507	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		39	144	39	144	---	---	---	---
UBQLNL	143630	broad.mit.edu	37	11	5536292	5536292	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:5536292C>T	ENST00000380184.1	-	1	1643	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	460								p.L460L(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGAATGTGGGCAGCTGCTGCC	0.502																																						uc001maz.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|skin(1)	3						c.(1378-1380)CTG>CTA		ubiquilin-like							106.0	105.0	105.0					11																	5536292		2201	4297	6498	SO:0001819	synonymous_variant	143630							g.chr11:5536292C>T	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.1380G>A	11.37:g.5536292C>T						HBG2_uc001mak.1_Intron	p.L460L	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	1665	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	460					Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	ENST00000380184.1	37	c.1380G>A	CCDS31385.1																																																																																				PASS	0.502	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		32	164	32	164	---	---	---	---
UBQLNL	143630	broad.mit.edu	37	11	5537009	5537009	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:5537009G>A	ENST00000380184.1	-	1	926	c.663C>T	c.(661-663)atC>atT	p.I221I	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	221								p.I221I(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCTGCAATAGGATCTCAGAAT	0.453																																						uc001maz.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|skin(1)	3						c.(661-663)ATC>ATT		ubiquilin-like							120.0	127.0	125.0					11																	5537009		2201	4297	6498	SO:0001819	synonymous_variant	143630							g.chr11:5537009G>A	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.663C>T	11.37:g.5537009G>A						HBG2_uc001mak.1_Intron	p.I221I	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	948	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	221					Q6ZRU1|Q96EK3|Q96MB0	Silent	SNP	ENST00000380184.1	37	c.663C>T	CCDS31385.1																																																																																				PASS	0.453	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		17	363	17	363	---	---	---	---
OR52W1	120787	broad.mit.edu	37	11	6221263	6221263	+	Silent	SNP	T	T	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:6221263T>C	ENST00000311352.2	+	1	888	c.810T>C	c.(808-810)ggT>ggC	p.G270G	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G270G(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCGCTTTGGTCATCACACTG	0.542																																						uc010qzz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(808-810)GGT>GGC		olfactory receptor, family 52, subfamily W,							445.0	413.0	424.0					11																	6221263		2201	4296	6497	SO:0001819	synonymous_variant	120787				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6221263T>C	AB065511	CCDS31407.1	11p15.4	2012-08-09		2004-03-10	ENSG00000175485	ENSG00000175485		"""GPCR / Class A : Olfactory receptors"""	15239	protein-coding gene	gene with protein product				OR52W1P			Standard	NM_001005178		Approved		uc010qzz.2	Q6IF63	OTTHUMG00000165378	ENST00000311352.2:c.810T>C	11.37:g.6221263T>C							p.G270G	NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	810	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	270			Extracellular (Potential).		Q8NH78	Silent	SNP	ENST00000311352.2	37	c.810T>C	CCDS31407.1																																																																																				PASS	0.542	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	NM_001005178		175	707	175	707	---	---	---	---
CNGA4	1262	broad.mit.edu	37	11	6260661	6260661	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:6260661G>T	ENST00000379936.2	+	2	225	c.110G>T	c.(109-111)tGg>tTg	p.W37L	CNGA4_ENST00000533426.1_5'UTR	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	37					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.W37L(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACTACTGGTGGCTGAACACA	0.493																																						uc001mco.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(109-111)TGG>TTG		cyclic nucleotide gated channel alpha 4							225.0	229.0	227.0					11																	6260661		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6260661G>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.110G>T	11.37:g.6260661G>T	ENSP00000369268:p.Trp37Leu					CNGA4_uc010raa.1_5'UTR|CNGA4_uc001mcn.2_5'UTR	p.W37L	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	217	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	37			Helical; Name=H1; (Potential).			Missense_Mutation	SNP	ENST00000379936.2	37	c.110G>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493070	0.84962	.	.	ENSG00000132259	ENST00000379936	D	0.97642	-4.47	5.71	4.79	0.61399	.	0.059907	0.64402	D	0.000001	D	0.98324	0.9444	M	0.86268	2.805	0.58432	D	0.999997	D	0.69078	0.997	D	0.71184	0.972	D	0.99053	1.0828	10	0.87932	D	0	.	13.7235	0.62743	0.0:0.0:0.8446:0.1554	.	37	Q8IV77	CNGA4_HUMAN	L	37	ENSP00000369268:W37L	ENSP00000369268:W37L	W	+	2	0	CNGA4	6217237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.963000	0.93385	1.367000	0.46095	0.655000	0.94253	TGG		PASS	0.493	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		100	511	100	511	---	---	---	---
SYT9	143425	broad.mit.edu	37	11	7334650	7334650	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:7334650C>T	ENST00000318881.6	+	3	759	c.522C>T	c.(520-522)ctC>ctT	p.L174L	SYT9_ENST00000396716.2_Silent_p.L142L	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	174					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.L174L(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GAAGACAACTCAACTTGTCAA	0.393																																						uc001mfe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(520-522)CTC>CTT		synaptotagmin IX							49.0	48.0	48.0					11																	7334650		2201	4296	6497	SO:0001819	synonymous_variant	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7334650C>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.522C>T	11.37:g.7334650C>T						SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	p.L174L	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	3	759	+			174			Cytoplasmic (Potential).			Silent	SNP	ENST00000318881.6	37	c.522C>T	CCDS7778.1																																																																																				PASS	0.393	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		18	69	18	69	---	---	---	---
KCNJ11	3767	broad.mit.edu	37	11	17409310	17409310	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:17409310C>A	ENST00000339994.4	-	1	896	c.329G>T	c.(328-330)tGt>tTt	p.C110F	KCNJ11_ENST00000528731.1_Missense_Mutation_p.C23F|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	110					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.C110F(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	GCTGGTGACACAGGGCTCAGC	0.612																																						uc001mna.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(328-330)TGT>TTT		potassium inwardly-rectifying channel J11							114.0	92.0	100.0					11																	17409310		2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17409310C>A	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.329G>T	11.37:g.17409310C>A	ENSP00000345708:p.Cys110Phe					KCNJ11_uc001mnb.3_Missense_Mutation_p.C23F	p.C110F	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	897	-			110					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.329G>T	CCDS31436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.23|14.23	2.472813|2.472813	0.43942|0.43942	.|.	.|.	ENSG00000187486|ENSG00000187486	ENST00000339994;ENST00000528731;ENST00000526912|ENST00000528992	D;D;D|.	0.97378|.	-4.36;-4.36;-4.36|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87454|0.87454	0.6181|0.6181	H|H	0.95437|0.95437	3.67|3.67	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91551|0.91551	0.5257|0.5257	10|5	0.87932|.	D|.	0|.	.|.	17.7632|17.7632	0.88470|0.88470	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	110|.	B2RC52|.	.|.	F|L	110;23;23|116	ENSP00000345708:C110F;ENSP00000434755:C23F;ENSP00000432729:C23F|.	ENSP00000345708:C110F|.	C|V	-|-	2|1	0|0	KCNJ11|KCNJ11	17365886|17365886	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.262000|0.262000	0.26303|0.26303	7.602000|7.602000	0.82796|0.82796	2.294000|2.294000	0.77228|0.77228	0.462000|0.462000	0.41574|0.41574	TGT|GTG		PASS	0.612	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		13	61	13	61	---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18955535	18955535	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:18955535C>A	ENST00000302797.3	-	1	1021	c.797G>T	c.(796-798)aGt>aTt	p.S266I	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'Flank	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	266					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S266I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGGGTTGGCACTGCTGTTAAG	0.468																																						uc001mpg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(796-798)AGT>ATT		MAS-related GPR, member X1							83.0	81.0	82.0					11																	18955535		2194	4287	6481	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955535C>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.797G>T	11.37:g.18955535C>A	ENSP00000305766:p.Ser266Ile						p.S266I	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	1015	-			266			Helical; Name=7; (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.797G>T	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	15.56	2.870874	0.51695	.	.	ENSG00000170255	ENST00000302797	T	0.37058	1.22	2.28	0.122	0.14702	GPCR, rhodopsin-like superfamily (1);	0.987293	0.08252	N	0.974423	T	0.65575	0.2704	M	0.92604	3.325	0.23533	N	0.997471	D	0.63880	0.993	D	0.69142	0.962	T	0.53229	-0.8468	10	0.87932	D	0	.	9.8541	0.41075	0.0:0.6073:0.3927:0.0	.	266	Q96LB2	MRGX1_HUMAN	I	266	ENSP00000305766:S266I	ENSP00000305766:S266I	S	-	2	0	MRGPRX1	18912111	0.009000	0.17119	0.619000	0.29118	0.294000	0.27393	0.518000	0.22847	0.030000	0.15379	0.491000	0.48974	AGT		PASS	0.468	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		35	137	35	137	---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22399019	22399019	+	Nonsense_Mutation	SNP	T	T	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:22399019T>A	ENST00000263160.3	+	12	1919	c.1482T>A	c.(1480-1482)taT>taA	p.Y494*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	494					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.Y494*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTATATTTTATGCAATATTTG	0.438																																						uc001mqk.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1480-1482)TAT>TAA		solute carrier family 17 (sodium-dependent							71.0	73.0	73.0					11																	22399019		2203	4300	6503	SO:0001587	stop_gained	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22399019T>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1482T>A	11.37:g.22399019T>A	ENSP00000263160:p.Tyr494*						p.Y494*	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			12	1895	+			494			Helical; (Potential).		A6NKS2	Nonsense_Mutation	SNP	ENST00000263160.3	37	c.1482T>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	T	40	8.116278	0.98662	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	.	.	.	5.98	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8017	0.52130	0.0:0.068:0.0:0.9319	.	.	.	.	X	494;382	.	ENSP00000263160:Y494X	Y	+	3	2	SLC17A6	22355595	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.912000	0.28597	1.097000	0.41459	0.533000	0.62120	TAT		PASS	0.438	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		22	81	22	81	---	---	---	---
FANCF	2188	broad.mit.edu	37	11	22646528	22646528	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:22646528G>C	ENST00000327470.3	-	1	859	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	277					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.L277V(1)		kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						TCTGTTAGCAGACCCAGATAG	0.537			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mql.1			yes	Rec		Fanconi anaemia F	11	11p15	2188	N|F	"""Fanconi anemia, complementation group F"""			L		AML|leukemia			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(829-831)CTG>GTG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group F							55.0	62.0	59.0					11																	22646528		2203	4300	6503	SO:0001583	missense	2188	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr11:22646528G>C		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.829C>G	11.37:g.22646528G>C	ENSP00000330875:p.Leu277Val		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	757		p.L277V	NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN			1	860	-			277					Q52LM0	Missense_Mutation	SNP	ENST00000327470.3	37	c.829C>G	CCDS7857.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255243	0.39896	.	.	ENSG00000183161	ENST00000327470	T	0.31769	1.48	5.41	2.36	0.29203	.	0.679266	0.13204	U	0.405686	T	0.28797	0.0714	L	0.44542	1.39	0.25345	N	0.988915	B	0.29162	0.235	B	0.34824	0.19	T	0.29212	-1.0019	10	0.62326	D	0.03	-9.5348	9.4198	0.38544	0.0725:0.2703:0.6572:0.0	.	277	Q9NPI8	FANCF_HUMAN	V	277	ENSP00000330875:L277V	ENSP00000330875:L277V	L	-	1	2	FANCF	22603104	0.563000	0.26594	0.336000	0.25522	0.904000	0.53231	0.778000	0.26732	0.830000	0.34757	0.561000	0.74099	CTG		PASS	0.537	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387712.2	NM_022725		13	165	13	165	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33566811	33566811	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:33566811G>A	ENST00000321505.4	+	2	2561	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R800Q|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.R800Q			Q6ZVL6	K154L_HUMAN	KIAA1549-like	794						integral component of membrane (GO:0016021)		p.R794Q(1)|p.R800Q(1)									CCACCATTGCGAGCAGAAAAC	0.582																																						uc001mup.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2398-2400)CGA>CAA		hypothetical protein LOC25758							59.0	71.0	67.0					11																	33566811		2175	4276	6451	SO:0001583	missense	25758					integral to membrane		g.chr11:33566811G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2381G>A	11.37:g.33566811G>A	ENSP00000315295:p.Arg794Gln					C11orf41_uc001mun.1_Missense_Mutation_p.R800Q	p.R800Q	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			2	2523	+			794					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.2399G>A	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.290|0.290	-0.980851|-0.980851	0.02197|0.02197	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	5.81|5.81	-1.48|-1.48	0.08745|0.08745	.|.	.|1.010830	.|0.07930	.|N	.|0.977405	T|T	0.09686|0.09686	0.0238|0.0238	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.22604	.|0.004;0.072	.|B;B	.|0.13407	.|0.001;0.009	T|T	0.26608|0.26608	-1.0098|-1.0098	5|9	.|0.13108	.|T	.|0.6	0.4452|0.4452	1.1807|1.1807	0.01844|0.01844	0.1271:0.3159:0.226:0.331|0.1271:0.3159:0.226:0.331	.|.	.|800;800	.|E9PAT2;Q6ZVL6-2	.|.;.	K|Q	192|794;800;800;633	.|.	.|ENSP00000265654:R800Q	E|R	+|+	1|2	0|0	C11orf41|C11orf41	33523387|33523387	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.094000|0.094000	0.18550|0.18550	-0.228000|-0.228000	0.09114|0.09114	-0.614000|-0.614000	0.05687|0.05687	0.561000|0.561000	0.74099|0.74099	GAG|CGA		PASS	0.582	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		19	95	19	95	---	---	---	---
TRAF6	7189	broad.mit.edu	37	11	36514132	36514132	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:36514132C>T	ENST00000526995.1	-	6	971	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Missense_Mutation_p.C242Y	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	242	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C242Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				ACTGAATGTGCATGGAATTGG	0.323																																						uc001mwr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(724-726)TGC>TAC		TNF receptor-associated factor 6							136.0	139.0	138.0					11																	36514132		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36514132C>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.725G>A	11.37:g.36514132C>T	ENSP00000433623:p.Cys242Tyr					TRAF6_uc001mws.1_Missense_Mutation_p.C242Y	p.C242Y	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN			7	1065	-	all_lung(20;0.211)	all_hematologic(20;0.107)	242			Interaction with TAX1BP1.|TRAF-type 2.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.725G>A	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609166	0.87258	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.77229	-1.08;-1.08	5.64	5.64	0.86602	Zinc finger, TRAF-type (1);	0.000000	0.85682	D	0.000000	D	0.91912	0.7439	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93394	0.6754	10	0.66056	D	0.02	-17.9544	19.6916	0.96005	0.0:1.0:0.0:0.0	.	242	Q9Y4K3	TRAF6_HUMAN	Y	242	ENSP00000433623:C242Y;ENSP00000337853:C242Y	ENSP00000337853:C242Y	C	-	2	0	TRAF6	36470708	1.000000	0.71417	0.953000	0.39169	0.978000	0.69477	7.120000	0.77153	2.662000	0.90505	0.557000	0.71058	TGC		PASS	0.323	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		7	185	7	185	---	---	---	---
KBTBD4	55709	broad.mit.edu	37	11	47595120	47595120	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:47595120C>A	ENST00000526005.1	-	4	1072	c.919G>T	c.(919-921)Gac>Tac	p.D307Y	KBTBD4_ENST00000395288.2_Missense_Mutation_p.D307Y|KBTBD4_ENST00000533290.1_Missense_Mutation_p.D332Y|NDUFS3_ENST00000533507.1_Intron|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000430070.2_Missense_Mutation_p.D323Y			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	307								p.D307Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CACTCCCAGTCAACGGTGGCA	0.592																																						uc001nfx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(919-921)GAC>TAC		kelch repeat and BTB (POZ) domain containing 4							90.0	65.0	74.0					11																	47595120		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47595120C>A	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.919G>T	11.37:g.47595120C>A	ENSP00000433340:p.Asp307Tyr					NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.D332Y|KBTBD4_uc001nfz.2_Missense_Mutation_p.D323Y|KBTBD4_uc001nfy.2_Missense_Mutation_p.D307Y	p.D307Y	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN			4	1090	-			307			Kelch 2.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.919G>T	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813211	0.70912	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.72	4.78	0.61160	Kelch-type beta propeller (1);	0.042344	0.85682	N	0.000000	T	0.68220	0.2977	N	0.22421	0.69	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.996	D;D;D	0.80764	0.994;0.966;0.982	T	0.73113	-0.4085	10	0.72032	D	0.01	-23.1259	15.8401	0.78837	0.1368:0.8632:0.0:0.0	.	323;307;332	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	Y	307;332;307;316;323	ENSP00000433340:D307Y;ENSP00000436713:D332Y;ENSP00000378703:D307Y;ENSP00000415106:D323Y	ENSP00000352971:D316Y	D	-	1	0	KBTBD4	47551696	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.485000	0.81204	1.352000	0.45808	0.655000	0.94253	GAC		PASS	0.592	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		37	103	37	103	---	---	---	---
OR4C3	256144	broad.mit.edu	37	11	48347278	48347278	+	Silent	SNP	C	C	G	rs146173332	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:48347278C>G	ENST00000319856.4	+	1	807	c.786C>G	c.(784-786)ctC>ctG	p.L262L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L262L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GCAAAGCCCTCTCCACCTGTG	0.448																																						uc010rhv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(784-786)CTC>CTG		olfactory receptor, family 4, subfamily C,							276.0	232.0	247.0					11																	48347278		2201	4298	6499	SO:0001819	synonymous_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347278C>G	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.786C>G	11.37:g.48347278C>G							p.L262L	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	786	+			235			Helical; Name=6; (Potential).		B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	c.786C>G	CCDS31489.1																																																																																				PASS	0.448	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		33	248	33	248	---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51412240	51412240	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:51412240G>A	ENST00000319760.6	-	1	208	c.156C>T	c.(154-156)tcC>tcT	p.S52S		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S52S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GGGAACCCAAGGAAGGGCTGG	0.428																																						uc001nhi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(154-156)TCC>TCT		olfactory receptor, family 4, subfamily A,							60.0	57.0	58.0					11																	51412240		2201	4296	6497	SO:0001819	synonymous_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412240G>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.156C>T	11.37:g.51412240G>A							p.S52S	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	156	-		all_lung(304;0.236)	52			Cytoplasmic (Potential).		Q6IF84	Silent	SNP	ENST00000319760.6	37	c.156C>T	CCDS31497.1																																																																																				PASS	0.428	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		11	80	11	80	---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703274	55703274	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:55703274G>T	ENST00000301532.3	-	1	602	c.603C>A	c.(601-603)ctC>ctA	p.L201L		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	201					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L201L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGTATGTGGAGAGGAGCCACT	0.383																																						uc010ris.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(601-603)CTC>CTA		olfactory receptor, family 5, subfamily I,							42.0	48.0	46.0					11																	55703274		2200	4294	6494	SO:0001819	synonymous_variant	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703274G>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.603C>A	11.37:g.55703274G>T							p.L201L	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	603	-			201			Helical; Name=5; (Potential).		Q6IEU4	Silent	SNP	ENST00000301532.3	37	c.603C>A	CCDS7949.1																																																																																				PASS	0.383	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		11	48	11	48	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904716	55904716	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:55904716G>A	ENST00000301529.1	-	1	478	c.479C>T	c.(478-480)tCa>tTa	p.S160L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S160L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TATACAAGGTGAAACCACAAT	0.428																																						uc010riz.1																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(478-480)TCA>TTA		olfactory receptor, family 8, subfamily J,							93.0	91.0	91.0					11																	55904716		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904716G>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.479C>T	11.37:g.55904716G>A	ENSP00000301529:p.Ser160Leu						p.S160L	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	479	-	Esophageal squamous(21;0.00693)		160			Helical; Name=4; (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.479C>T	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805292	0.70682	.	.	ENSG00000167822	ENST00000301529	T	0.00051	8.81	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.245457	0.29046	N	0.013304	T	0.00210	0.0006	L	0.31157	0.91	0.09310	N	1	P	0.39216	0.664	P	0.51516	0.672	T	0.47459	-0.9116	10	0.87932	D	0	.	9.9828	0.41824	0.0:0.0:0.797:0.203	.	160	Q8NGG0	OR8J3_HUMAN	L	160	ENSP00000301529:S160L	ENSP00000301529:S160L	S	-	2	0	OR8J3	55661292	0.001000	0.12720	0.002000	0.10522	0.824000	0.46624	1.087000	0.30865	1.548000	0.49413	0.289000	0.19496	TCA		PASS	0.428	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		26	150	26	150	---	---	---	---
OR8J1	219477	broad.mit.edu	37	11	56128355	56128355	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:56128355G>A	ENST00000303039.3	+	1	665	c.633G>A	c.(631-633)ttG>ttA	p.L211L		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L211L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTGGTTCCTTGATTATAGTTC	0.323																																						uc010rjh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(631-633)TTG>TTA		olfactory receptor, family 8, subfamily J,							160.0	148.0	152.0					11																	56128355		2201	4296	6497	SO:0001819	synonymous_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128355G>A	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.633G>A	11.37:g.56128355G>A							p.L211L	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	633	+	Esophageal squamous(21;0.00448)		211			Helical; Name=5; (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Silent	SNP	ENST00000303039.3	37	c.633G>A	CCDS31529.1																																																																																				PASS	0.323	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		9	104	9	104	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56467891	56467891	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:56467891G>A	ENST00000312153.1	+	1	28	c.28G>A	c.(28-30)Gag>Aag	p.E10K		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E10K(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TACAGTGACTGAGTTTATACT	0.473																																						uc010rjn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(28-30)GAG>AAG		olfactory receptor, family 9, subfamily G,							119.0	104.0	109.0					11																	56467891		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56467891G>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.28G>A	11.37:g.56467891G>A	ENSP00000309012:p.Glu10Lys						p.E10K	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	28	+			10			Extracellular (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.28G>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538942	0.45176	.	.	ENSG00000174914	ENST00000312153	T	0.01119	5.31	4.52	3.6	0.41247	.	0.497230	0.18513	N	0.139001	T	0.02380	0.0073	M	0.79926	2.475	0.33314	D	0.566433	B	0.06786	0.001	B	0.09377	0.004	T	0.01249	-1.1406	10	0.66056	D	0.02	-8.7081	9.562	0.39376	0.0:0.1662:0.6793:0.1545	.	10	Q8NH87	OR9G1_HUMAN	K	10	ENSP00000309012:E10K	ENSP00000309012:E10K	E	+	1	0	OR9G1	56224467	0.792000	0.28813	0.978000	0.43139	0.749000	0.42624	2.701000	0.47094	1.220000	0.43490	0.573000	0.79308	GAG		PASS	0.473	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		18	120	18	120	---	---	---	---
MS4A1	931	broad.mit.edu	37	11	60229890	60229890	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:60229890G>A	ENST00000534668.1	+	2	332	c.43G>A	c.(43-45)Gag>Aag	p.E15K	MS4A1_ENST00000528313.1_Missense_Mutation_p.E15K|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000532073.1_Missense_Mutation_p.E15K|MS4A1_ENST00000345732.4_Missense_Mutation_p.E15K|MS4A1_ENST00000389939.2_Missense_Mutation_p.E15K	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	15					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)	p.E15K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TTTCCCGGCAGAGCCAATGAA	0.438																																						uc001npp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(43-45)GAG>AAG		membrane-spanning 4-domains, subfamily A, member	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						62.0	65.0	64.0					11																	60229890		2203	4300	6503	SO:0001583	missense	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60229890G>A	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.43G>A	11.37:g.60229890G>A	ENSP00000433277:p.Glu15Lys					MS4A1_uc009ymy.1_Missense_Mutation_p.E15K|MS4A1_uc001npq.2_Missense_Mutation_p.E15K|MS4A1_uc009yna.2_Missense_Mutation_p.E15K|MS4A1_uc009ymz.2_Missense_Mutation_p.E15K|MS4A1_uc010rlc.1_Missense_Mutation_p.E15K	p.E15K	NM_152866	NP_690605	P11836	CD20_HUMAN			3	459	+			15			Cytoplasmic (Potential).		A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	c.43G>A	CCDS31570.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.56|17.56	3.419609|3.419609	0.62622|0.62622	.|.	.|.	ENSG00000156738|ENSG00000156738	ENST00000533306|ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	.|T;T;T;T	.|0.22134	.|2.55;1.97;2.55;2.55	5.15|5.15	4.22|4.22	0.49857|0.49857	.|.	.|1.962480	.|0.01812	.|N	.|0.033502	.|T	.|0.16471	.|0.0396	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;P;P;P	.|0.38922	.|0.386;0.651;0.651;0.651	.|B;B;B;B	.|0.36666	.|0.23;0.165;0.165;0.165	.|T	.|0.25779	.|-1.0122	.|10	.|0.07175	.|T	.|0.84	.|-10.2751	11.5536|11.5536	0.50735|0.50735	0.0:0.1809:0.8191:0.0|0.0:0.1809:0.8191:0.0	.|.	.|15;15;15;15	.|B4DT24;E9PKH8;A8K803;P11836	.|.;.;.;CD20_HUMAN	.|K	-1|15	.|ENSP00000314620:E15K;ENSP00000433519:E15K;ENSP00000433277:E15K;ENSP00000374589:E15K	.|ENSP00000314620:E15K	.|E	+|+	.|1	.|0	MS4A1|MS4A1	59986466|59986466	0.054000|0.054000	0.20591|0.20591	0.011000|0.011000	0.14972|0.14972	0.930000|0.930000	0.56654|0.56654	1.928000|1.928000	0.40104|0.40104	1.131000|1.131000	0.42111|0.42111	0.655000|0.655000	0.94253|0.94253	.|GAG		PASS	0.438	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			10	156	10	156	---	---	---	---
SLC22A8	9376	broad.mit.edu	37	11	62782428	62782428	+	Start_Codon_SNP	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:62782428C>T	ENST00000336232.2	-	2	138	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC22A8_ENST00000311438.8_Start_Codon_SNP_p.M1I|SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000430500.2_Start_Codon_SNP_p.M1I	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	1					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)	p.M1I(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCGAGAAGGTCATGGCACTGG	0.572																																						uc001nwo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1-3)ATG>ATA		solute carrier family 22 member 8							85.0	74.0	78.0					11																	62782428		2201	4298	6499	SO:0001582	initiator_codon_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62782428C>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.3G>A	11.37:g.62782428C>T	ENSP00000337335:p.Met1Ile					SLC22A8_uc001nwp.2_Missense_Mutation_p.M1I|SLC22A8_uc009yom.2_Intron|SLC22A8_uc010rmm.1_Intron|SLC22A8_uc009yon.2_Missense_Mutation_p.M1I	p.M1I	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			2	139	-			1			Cytoplasmic (Potential).		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.3G>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647807	0.87958	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000311438;ENST00000430500	T;T;T	0.70399	-0.48;-0.48;-0.48	4.76	4.76	0.60689	.	0.089661	0.64402	D	0.000001	D	0.83510	0.5270	.	.	.	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.967	D	0.85886	0.1425	9	0.87932	D	0	.	15.3286	0.74186	0.0:1.0:0.0:0.0	.	1;1	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	I	1	ENSP00000337335:M1I;ENSP00000311463:M1I;ENSP00000398548:M1I	ENSP00000311463:M1I	M	-	3	0	SLC22A8	62539004	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.652000	0.74377	2.460000	0.83146	0.655000	0.94253	ATG		PASS	0.572	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254	Missense_Mutation	31	185	31	185	---	---	---	---
MACROD1	28992	broad.mit.edu	37	11	63884157	63884157	+	Intron	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:63884157C>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Missense_Mutation_p.R140C|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.R140C(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CAACAATGTGCGCACCATTGC	0.602																																						uc001nyi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)CGC>TGC		fibronectin leucine rich transmembrane protein							51.0	48.0	49.0					11																	63884157		2201	4297	6498	SO:0001627	intron_variant	23769				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr11:63884157C>T	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34553G>A	11.37:g.63884157C>T						MACROD1_uc001nyh.2_Intron	p.R140C	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN			2	759	+			112			LRR 3.|Extracellular (Potential).		Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.418C>T	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622136	0.66787	.	.	ENSG00000126500	ENST00000246841	T	0.59638	0.25	5.56	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78150	-0.2316	10	0.72032	D	0.01	-30.4602	15.3774	0.74621	0.0:0.8604:0.1396:0.0	.	112	Q9NZU1	FLRT1_HUMAN	C	140	ENSP00000246841:R140C	ENSP00000246841:R140C	R	+	1	0	FLRT1	63640733	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.193000	0.50997	2.615000	0.88500	0.555000	0.69702	CGC		PASS	0.602	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		19	126	19	126	---	---	---	---
FKBP2	2286	broad.mit.edu	37	11	64009984	64009984	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:64009984G>A	ENST00000394540.3	+	2	595	c.125G>A	c.(124-126)tGt>tAt	p.C42Y	FKBP2_ENST00000449942.2_Missense_Mutation_p.C42Y|FKBP2_ENST00000309366.4_Missense_Mutation_p.C42Y	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	42					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.C42Y(1)		endometrium(2)|lung(3)	5						GTGGACCACTGTCCCATCAAA	0.632																																						uc001nyy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)TGT>TAT		FK506 binding protein 2, 13kDa precursor							86.0	84.0	84.0					11																	64009984		2201	4297	6498	SO:0001583	missense	2286				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr11:64009984G>A	M75099	CCDS8063.1	11q13.1-q13.3	2008-07-18	2002-08-29			ENSG00000173486			3718	protein-coding gene	gene with protein product	"""FK506 binding protein 2 (13kD)"", ""peptidyl-prolyl cis-trans isomerase"", ""rapamycin-binding protein"", ""proline isomerase"""	186946	"""FK506-binding protein 2 (13kD)"""			1713687	Standard	NM_004470		Approved	FKBP-13, PPIase	uc001nyy.3	P26885		ENST00000394540.3:c.125G>A	11.37:g.64009984G>A	ENSP00000378046:p.Cys42Tyr					FKBP2_uc010rnh.1_Missense_Mutation_p.C42Y|FKBP2_uc001nyz.2_Missense_Mutation_p.C42Y	p.C42Y	NM_004470	NP_004461	P26885	FKBP2_HUMAN			2	321	+			42					Q5BJH9|Q9BTS7	Missense_Mutation	SNP	ENST00000394540.3	37	c.125G>A	CCDS8063.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515460	0.85389	.	.	ENSG00000173486	ENST00000309366;ENST00000449942;ENST00000535135;ENST00000394540	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	3.73	3.73	0.42828	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85271	0.1056	10	0.87932	D	0	-4.9159	14.8249	0.70104	0.0:0.0:1.0:0.0	.	42	P26885	FKBP2_HUMAN	Y	42	ENSP00000310935:C42Y;ENSP00000398147:C42Y;ENSP00000438749:C42Y;ENSP00000378046:C42Y	ENSP00000310935:C42Y	C	+	2	0	FKBP2	63766560	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.734000	0.91543	2.103000	0.63969	0.455000	0.32223	TGT		PASS	0.632	FKBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396401.2	NM_004470		15	257	15	257	---	---	---	---
NAALADL1	10004	broad.mit.edu	37	11	64822077	64822077	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:64822077C>T	ENST00000358658.3	-	5	764	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	NAALADL1_ENST00000356632.3_Missense_Mutation_p.R246Q|NAALADL1_ENST00000355369.2_Missense_Mutation_p.R246Q|NAALADL1_ENST00000340252.4_Missense_Mutation_p.R246Q|NAALADL1_ENST00000355721.3_Missense_Mutation_p.R205Q|NAALADL1_ENST00000339885.2_Missense_Mutation_p.R246Q	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.R246Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GTAGGAGCCTCGCTCCACTCC	0.597											OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										uc001ocn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(736-738)CGA>CAA		N-acetylated alpha-linked acidic							55.0	54.0	54.0					11																	64822077		2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64822077C>T	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.737G>A	11.37:g.64822077C>T	ENSP00000351484:p.Arg246Gln		OREG0032001	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	1079	NAALADL1_uc010rnw.1_5'UTR	p.R246Q	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			5	753	-			246			Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.737G>A	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036869	0.93630	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	H	0.96805	3.885	0.58432	D	0.999991	D	0.89917	1.0	D	0.81914	0.995	D	0.86066	0.1535	10	0.87932	D	0	-4.125	15.1962	0.73092	0.0:1.0:0.0:0.0	.	246	Q9UQQ1	NALDL_HUMAN	Q	246;246;246;246;246;205;246	ENSP00000351484:R246Q;ENSP00000347530:R246Q;ENSP00000340111:R246Q;ENSP00000344244:R246Q;ENSP00000347955:R205Q;ENSP00000349045:R246Q	ENSP00000340111:R246Q	R	-	2	0	NAALADL1	64578653	1.000000	0.71417	0.997000	0.53966	0.753000	0.42808	6.561000	0.73955	2.451000	0.82905	0.655000	0.94253	CGA		PASS	0.597	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		11	76	11	76	---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65397112	65397112	+	Silent	SNP	C	C	T	rs200591552		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:65397112C>T	ENST00000355703.3	+	26	4661	c.4122C>T	c.(4120-4122)ttC>ttT	p.F1374F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1374						integral component of membrane (GO:0016021)		p.F1374F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GTGACTGCTTCGTCCTGGCCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		21991	0.0		0.001	False		,,,				2504	0.0					uc001oey.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(4120-4122)TTC>TTT		pecanex-like 3							52.0	57.0	55.0					11																	65397112		2185	4277	6462	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65397112C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4122C>T	11.37:g.65397112C>T						PCNXL3_uc001oez.2_Silent_p.F261F	p.F1374F	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			26	4122	+			1374					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.4122C>T	CCDS44650.1																																																																																				PASS	0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		9	29	9	29	---	---	---	---
FOSL1	8061	broad.mit.edu	37	11	65664331	65664331	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:65664331G>A	ENST00000312562.2	-	2	432	c.246C>T	c.(244-246)gtC>gtT	p.V82V	FOSL1_ENST00000448083.2_Intron|FOSL1_ENST00000532401.1_Silent_p.V82V|FOSL1_ENST00000531493.1_Silent_p.V82V	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	82					cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V82V(1)		breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		GGGCCCGGATGACTCCTGGCC	0.642																																						uc001ogg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(244-246)GTC>GTT		FOS-like antigen 1							40.0	46.0	44.0					11																	65664331		2201	4296	6497	SO:0001819	synonymous_variant	8061				cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:65664331G>A	BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"""basic leucine zipper proteins"""	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.246C>T	11.37:g.65664331G>A						FOSL1_uc010ros.1_Intron	p.V82V	NM_005438	NP_005429	P15407	FOSL1_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	2	433	-			82					B4DR11|Q6FG51	Silent	SNP	ENST00000312562.2	37	c.246C>T	CCDS8121.1																																																																																				PASS	0.642	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391168.2	NM_005438		28	167	28	167	---	---	---	---
TSGA10IP	254187	broad.mit.edu	37	11	65714963	65714963	+	RNA	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:65714963G>A	ENST00000532620.1	+	0	898				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.E193K(1)		endometrium(2)|kidney(3)|lung(9)	14						CCTGGGTGCTGAGGAGGCCGA	0.652																																						uc001ogk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(667-669)GAG>AAG		testis specific, 10 interacting protein							35.0	43.0	40.0					11																	65714963		1939	4133	6072			254187							g.chr11:65714963G>A	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65714963G>A						TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron	p.E223K	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN			5	699	+			223					Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37	c.667G>A																																																																																					PASS	0.652	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		19	112	19	112	---	---	---	---
CST6	1474	broad.mit.edu	37	11	65779526	65779526	+	Missense_Mutation	SNP	C	C	G	rs376486721		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:65779526C>G	ENST00000312134.2	+	1	215	c.11C>G	c.(10-12)tCg>tGg	p.S4W		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	4					anatomical structure morphogenesis (GO:0009653)|epidermis development (GO:0008544)|negative regulation of endopeptidase activity (GO:0010951)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.S4W(1)		large_intestine(1)|lung(1)|ovary(1)	3						ATGGCGCGTTCGAACCTCCCG	0.746																																						uc001ogr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(10-12)TCG>TGG		cystatin M precursor							7.0	9.0	8.0					11																	65779526		2129	4189	6318	SO:0001583	missense	1474				anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr11:65779526C>G	U62800	CCDS8126.1	11q13	2005-09-29			ENSG00000175315	ENSG00000175315			2478	protein-coding gene	gene with protein product		601891				9154125, 9099741	Standard	NM_001323		Approved		uc001ogr.3	Q15828	OTTHUMG00000166750	ENST00000312134.2:c.11C>G	11.37:g.65779526C>G	ENSP00000311313:p.Ser4Trp					CST6_uc001ogq.1_RNA|CST6_uc001ogs.1_5'Flank	p.S4W	NM_001323	NP_001314	Q15828	CYTM_HUMAN			1	65	+			4					Q540N7	Missense_Mutation	SNP	ENST00000312134.2	37	c.11C>G	CCDS8126.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514043	0.27123	.	.	ENSG00000175315	ENST00000312134	T	0.09630	2.96	4.54	1.52	0.23074	.	0.980889	0.08287	N	0.969005	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	P	0.43973	0.823	B	0.34931	0.192	T	0.33497	-0.9866	10	0.38643	T	0.18	0.0133	5.1961	0.15239	0.0:0.6224:0.1747:0.2029	.	4	Q15828	CYTM_HUMAN	W	4	ENSP00000311313:S4W	ENSP00000311313:S4W	S	+	2	0	CST6	65536102	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.479000	0.22228	0.456000	0.26937	-0.251000	0.11542	TCG		PASS	0.746	CST6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391348.1	NM_001323		7	14	7	14	---	---	---	---
NPAS4	266743	broad.mit.edu	37	11	66191327	66191327	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:66191327C>T	ENST00000311034.2	+	7	1142	c.966C>T	c.(964-966)ctC>ctT	p.L322L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	322					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.L322L(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTGGAGCCTCCGCCAGCAGT	0.547																																						uc001ohx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(964-966)CTC>CTT		neuronal PAS domain protein 4							76.0	79.0	78.0					11																	66191327		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191327C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.966C>T	11.37:g.66191327C>T						NPAS4_uc010rpc.1_Silent_p.L112L	p.L322L	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1142	+			322					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.966C>T	CCDS8138.1																																																																																				PASS	0.547	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		17	283	17	283	---	---	---	---
ALDH3B2	222	broad.mit.edu	37	11	67434384	67434384	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:67434384G>C	ENST00000349015.3	-	3	461	c.23C>G	c.(22-24)aCg>aGg	p.T8R	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.T8R|ALDH3B2_ENST00000531881.1_5'UTR	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	8					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.T8R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						CACCAGGTTCGTGGACCGTGG	0.642																																						uc001omr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)	2						c.(22-24)ACG>AGG		aldehyde dehydrogenase 3B2	NADH(DB00157)						80.0	69.0	73.0					11																	67434384		2200	4294	6494	SO:0001583	missense	222				alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	g.chr11:67434384G>C	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.23C>G	11.37:g.67434384G>C	ENSP00000255084:p.Thr8Arg					ALDH3B2_uc001oms.2_Missense_Mutation_p.T8R|ALDH3B2_uc009ysa.1_Missense_Mutation_p.T8R	p.T8R	NM_000695	NP_000686	P48448	AL3B2_HUMAN			3	462	-			8					Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	c.23C>G	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	g	9.852	1.193857	0.22037	.	.	ENSG00000132746	ENST00000530069;ENST00000349015;ENST00000525827;ENST00000528756	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	3.66	-3.3	0.05003	Aldehyde dehydrogenase, N-terminal (1);	0.475584	0.22438	N	0.060058	T	0.72811	0.3507	N	0.25094	0.71	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.57854	-0.7739	10	0.37606	T	0.19	.	15.0858	0.72151	0.0:0.0:0.1549:0.8451	.	8	P48448	AL3B2_HUMAN	R	8	ENSP00000431595:T8R;ENSP00000255084:T8R;ENSP00000433718:T8R;ENSP00000433466:T8R	ENSP00000255084:T8R	T	-	2	0	ALDH3B2	67190960	0.023000	0.18921	0.014000	0.15608	0.003000	0.03518	0.075000	0.14686	-0.374000	0.07967	-0.310000	0.09108	ACG		PASS	0.642	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695		7	200	7	200	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70319419	70319419	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:70319419G>A	ENST00000423696.2	-	16	4004	c.3968C>T	c.(3967-3969)tCa>tTa	p.S1323L	SHANK2_ENST00000449833.2_Missense_Mutation_p.S1107L|SHANK2_ENST00000338508.4_Missense_Mutation_p.S1703L|SHANK2_ENST00000409161.1_Missense_Mutation_p.S1106L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1323					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.S1703L(1)|p.S1107L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCTTGTTCCTGAGGTCCTGCT	0.642																																						uc001oqc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(5104-5106)TCA>TTA		SH3 and multiple ankyrin repeat domains 2							49.0	48.0	48.0					11																	70319419		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319419G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3968C>T	11.37:g.70319419G>A	ENSP00000394536:p.Ser1323Leu					SHANK2_uc010rqn.1_Missense_Mutation_p.S1114L|SHANK2_uc001opz.2_Missense_Mutation_p.S1107L|uc009ysn.1_Intron|SHANK2_uc001opy.2_Missense_Mutation_p.S38L	p.S1702L	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		22	5183	-			1323					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5105C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.288627	0.95517	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.43688	2.25;2.24;2.97;0.94;2.38;2.38	5.91	5.91	0.95273	.	0.598474	0.17693	N	0.165190	T	0.41994	0.1183	L	0.36672	1.1	0.80722	D	1	B;P;P	0.44044	0.007;0.825;0.716	B;B;B	0.43536	0.004;0.423;0.311	T	0.09400	-1.0676	10	0.26408	T	0.33	.	20.3018	0.98617	0.0:0.0:1.0:0.0	.	1323;1702;1107	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	L	1107;1106;981;1703;1323;1341;1326	ENSP00000399423:S1107L;ENSP00000386491:S1106L;ENSP00000402944:S981L;ENSP00000345193:S1703L;ENSP00000394536:S1323L;ENSP00000294018:S1326L	ENSP00000294018:S1326L	S	-	2	0	SHANK2	69997067	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.416000	0.73332	2.799000	0.96334	0.650000	0.86243	TCA		PASS	0.642	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		9	153	9	153	---	---	---	---
POLD3	10714	broad.mit.edu	37	11	74351706	74351707	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:74351706_74351707GA>TG	ENST00000263681.2	+	12	1425_1426	c.1296_1297GA>TG	c.(1294-1299)gtGAaa>gtTGaa	p.K433E	POLD3_ENST00000527458.1_Missense_Mutation_p.K394E|POLD3_ENST00000532497.1_Missense_Mutation_p.K327E	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	433					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)	p.K433E(4)|p.V432V(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CCATGACTGTGAAAAAAGAACC	0.495																																						uc001ovf.1																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	kidney(2)|ovary(1)	3						c.(1294-1296)GTG>GTT|c.(1297-1299)AAA>GAA		DNA-directed DNA polymerase delta 3																																				SO:0001583	missense	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74351706G>T|g.chr11:74351707A>G	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	Exception_encountered	11.37:g.74351706_74351707delinsTG	ENSP00000263681:p.Lys433Glu					POLD3_uc009yua.1_Silent_p.V326V|POLD3_uc009yua.1_Missense_Mutation_p.K327E	p.V432V|p.K433E	NM_006591	NP_006582	Q15054	DPOD3_HUMAN			12	1371|1372	+	Breast(11;3.21e-06)		432|433					B7ZAI6|Q32MZ9|Q32N00	Silent|Missense_Mutation	SNP	ENST00000263681.2	37	c.1296G>T|c.1297A>G	CCDS8233.1																																																																																				PASS	0.495	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		28|27	166|162	27	162	---	---	---	---
RAB38	23682	broad.mit.edu	37	11	87908475	87908475	+	Missense_Mutation	SNP	G	G	C	rs61749248		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:87908475G>C	ENST00000243662.6	-	1	160	c.78C>G	c.(76-78)atC>atG	p.I26M	MIR3166_ENST00000577344.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	26					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.I26I(1)|p.I26M(1)		large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CGTAGCGCTTGATGATACTGG	0.632																																						uc001pcj.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.I26I(1)	upper_aerodigestive_tract(1)|lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(76-78)ATC>ATG		RAB38							123.0	90.0	101.0					11																	87908475		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87908475G>C	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.78C>G	11.37:g.87908475G>C	ENSP00000243662:p.Ile26Met					hsa-mir-3166|MI0014196_5'Flank	p.I26M	NM_022337	NP_071732	P57729	RAB38_HUMAN			1	125	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	26					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.78C>G	CCDS8281.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.74|15.74|15.74	2.923143|2.923143|2.923143	0.52653|0.52653|0.52653	.|.|.	.|.|.	ENSG00000123892|ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000531138|ENST00000526372	T|.|.	0.77620|.|.	-1.11|.|.	5.1|5.1|5.1	0.899|0.899|0.899	0.19271|0.19271|0.19271	Small GTP-binding protein domain (1);|.|.	0.046601|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.59059|0.59059|.	0.2166|0.2166|.	L|L|L	0.59967|0.59967|0.59967	1.855|1.855|1.855	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|.	0.89917|.|.	1.0|.|.	D|.|.	0.87578|.|.	0.998|.|.	T|T|.	0.52472|0.52472|.	-0.8571|-0.8571|.	9|5|.	.|.|.	.|.|.	.|.|.	-15.8072|-15.8072|-15.8072	9.3974|9.3974|9.3974	0.38410|0.38410|0.38410	0.309:0.0:0.691:0.0|0.309:0.0:0.691:0.0|0.309:0.0:0.691:0.0	.|.|.	26|.|.	P57729|.|.	RAB38_HUMAN|.|.	M|E|X	26|43|43	ENSP00000243662:I26M|.|.	.|.|.	I|Q|S	-|-|-	3|1|2	3|0|0	RAB38|RAB38|RAB38	87548123|87548123|87548123	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.874000|0.874000|0.874000	0.50279|0.50279|0.50279	2.224000|2.224000|2.224000	0.42945|0.42945|0.42945	0.003000|0.003000|0.003000	0.14656|0.14656|0.14656	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	ATC|CAA|TCA		PASS	0.632	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			16	136	16	136	---	---	---	---
TYR	7299	broad.mit.edu	37	11	88911287	88911287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:88911287C>T	ENST00000263321.5	+	1	668	c.166C>T	c.(166-168)Cag>Tag	p.Q56*	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	56					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Q56*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	AGGTTCCTGTCAGAATATCCT	0.547																																						uc001pcs.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(166-168)CAG>TAG		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						60.0	51.0	54.0					11																	88911287		2201	4299	6500	SO:0001587	stop_gained	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911287C>T	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.166C>T	11.37:g.88911287C>T	ENSP00000263321:p.Gln56*						p.Q56*	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	248	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	56			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Nonsense_Mutation	SNP	ENST00000263321.5	37	c.166C>T	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	C	41	8.623989	0.98890	.	.	ENSG00000077498	ENST00000263321	.	.	.	6.07	5.15	0.70609	.	0.179175	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.488	0.50365	0.0:0.8061:0.127:0.0669	.	.	.	.	X	56	.	.	Q	+	1	0	TYR	88550935	0.999000	0.42202	0.963000	0.40424	0.700000	0.40528	2.683000	0.46943	1.538000	0.49270	0.655000	0.94253	CAG		PASS	0.547	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		16	72	16	72	---	---	---	---
TYR	7299	broad.mit.edu	37	11	88911641	88911641	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:88911641G>A	ENST00000263321.5	+	1	1022	c.520G>A	c.(520-522)Gac>Aac	p.D174N	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	174					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D174N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CAATATTTATGACCTCTTTGT	0.423																																						uc001pcs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(520-522)GAC>AAC		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						179.0	168.0	172.0					11																	88911641		2201	4299	6500	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911641G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.520G>A	11.37:g.88911641G>A	ENSP00000263321:p.Asp174Asn						p.D174N	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	602	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	174			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.520G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382519	0.24944	.	.	ENSG00000077498	ENST00000263321	D	0.98474	-4.95	5.97	4.12	0.48240	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.088029	0.85682	N	0.000000	D	0.97424	0.9157	M	0.77103	2.36	0.80722	D	1	B	0.25563	0.129	B	0.34385	0.181	D	0.95703	0.8751	9	.	.	.	.	12.55	0.56222	0.1338:0.0:0.8662:0.0	.	174	P14679	TYRO_HUMAN	N	174	ENSP00000263321:D174N	.	D	+	1	0	TYR	88551289	1.000000	0.71417	0.996000	0.52242	0.834000	0.47266	5.337000	0.65941	0.866000	0.35629	0.655000	0.94253	GAC		PASS	0.423	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		57	306	57	306	---	---	---	---
GPR83	10888	broad.mit.edu	37	11	94113828	94113828	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:94113828G>T	ENST00000243673.2	-	4	930	c.759C>A	c.(757-759)ctC>ctA	p.L253L	GPR83_ENST00000539203.2_Silent_p.L211L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	253					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.L253L(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGAGATGATGAGGAGGGGCA	0.562																																						uc001pet.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(757-759)CTC>CTA		G protein-coupled receptor 83 precursor							77.0	72.0	73.0					11																	94113828		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113828G>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.759C>A	11.37:g.94113828G>T							p.L253L	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			4	931	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	253			Helical; Name=5; (Potential).		B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.759C>A	CCDS8297.1																																																																																				PASS	0.562	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		24	110	24	110	---	---	---	---
GRIA4	2893	broad.mit.edu	37	11	105769141	105769141	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:105769141G>C	ENST00000530497.1	+	6	873	c.873G>C	c.(871-873)gaG>gaC	p.E291D	GRIA4_ENST00000282499.5_Missense_Mutation_p.E291D|GRIA4_ENST00000393125.2_Missense_Mutation_p.E291D|GRIA4_ENST00000428631.2_Missense_Mutation_p.E291D|GRIA4_ENST00000525187.1_Missense_Mutation_p.E291D|GRIA4_ENST00000393127.2_Missense_Mutation_p.E291D			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	291					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.E291D(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CAGGATCTGAGACTCCTCCAA	0.313																																						uc001pix.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(871-873)GAG>GAC		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						54.0	55.0	54.0					11																	105769141		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105769141G>C	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.873G>C	11.37:g.105769141G>C	ENSP00000435775:p.Glu291Asp					GRIA4_uc001piu.1_Missense_Mutation_p.E291D|GRIA4_uc001piw.2_Missense_Mutation_p.E291D|GRIA4_uc009yxk.1_Missense_Mutation_p.E291D	p.E291D	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	7	1319	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	291			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.873G>C	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	6.909	0.537225	0.13188	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	5.72	1.71	0.24356	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000004	T	0.05640	0.0148	N	0.01576	-0.805	0.45899	D	0.998743	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12837	0.008;0.007;0.002	T	0.35992	-0.9766	10	0.05436	T	0.98	.	8.8887	0.35420	0.4271:0.0:0.5729:0.0	.	291;291;291	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	D	291	ENSP00000376833:E291D;ENSP00000282499:E291D;ENSP00000376835:E291D;ENSP00000415551:E291D;ENSP00000435775:E291D;ENSP00000432180:E291D	ENSP00000282499:E291D	E	+	3	2	GRIA4	105274351	0.826000	0.29277	1.000000	0.80357	0.998000	0.95712	-0.036000	0.12185	0.748000	0.32831	0.655000	0.94253	GAG		PASS	0.313	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			4	34	4	34	---	---	---	---
ZW10	9183	broad.mit.edu	37	11	113628514	113628514	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:113628514C>T	ENST00000200135.3	-	7	939	c.795G>A	c.(793-795)gtG>gtA	p.V265V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	265	Interaction with RINT1.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)	p.V265V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GGCTTTCTATCACAGCATGAA	0.378																																						uc001poe.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(793-795)GTG>GTA		centromere/kinetochore protein zw10							79.0	82.0	81.0					11																	113628514		2201	4296	6497	SO:0001819	synonymous_variant	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113628514C>T	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.795G>A	11.37:g.113628514C>T						ZW10_uc009yyv.2_RNA	p.V265V	NM_004724	NP_004715	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	7	832	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	265			Interaction with RINT1.		A1A528	Silent	SNP	ENST00000200135.3	37	c.795G>A	CCDS8363.1																																																																																				PASS	0.378	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		10	96	10	96	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117314735	117314735	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:117314735C>T	ENST00000321322.6	-	21	3910	c.3909G>A	c.(3907-3909)acG>acA	p.T1303T	DSCAML1_ENST00000527706.1_Silent_p.T1033T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1243	Ig-like C2-type 10.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.T1303T(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTCTGGACTCGTCTCGTACT	0.642																																						uc001prh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3907-3909)ACG>ACA		Down syndrome cell adhesion molecule like 1							38.0	36.0	36.0					11																	117314735		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117314735C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3909G>A	11.37:g.117314735C>T							p.T1303T	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	21	3911	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1243			Extracellular (Potential).|Fibronectin type-III 4.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.3909G>A	CCDS8384.1																																																																																				PASS	0.642	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		11	97	11	97	---	---	---	---
AMICA1	120425	broad.mit.edu	37	11	118074365	118074365	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:118074365G>C	ENST00000356289.5	-	6	723	c.550C>G	c.(550-552)Cgt>Ggt	p.R184G	AMICA1_ENST00000292067.7_Missense_Mutation_p.R174G|AMICA1_ENST00000526620.1_Missense_Mutation_p.R145G|AMICA1_ENST00000533261.1_Missense_Mutation_p.R173G	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	184	Ig-like V-type 2.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.R174G(1)|p.R174C(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGGTAGTAACGAAATACAATC	0.502																																						uc001psk.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(550-552)CGT>GGT		adhesion molecule, interacts with CXADR antigen							78.0	78.0	78.0					11																	118074365		2200	4296	6496	SO:0001583	missense	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118074365G>C	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.550C>G	11.37:g.118074365G>C	ENSP00000348635:p.Arg184Gly					AMICA1_uc001psg.2_5'UTR|AMICA1_uc001psh.2_Missense_Mutation_p.R145G|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.R174G|AMICA1_uc001psj.2_Missense_Mutation_p.R173G|AMICA1_uc010rxw.1_Missense_Mutation_p.R145G|AMICA1_uc010rxx.1_Missense_Mutation_p.R184G|AMICA1_uc001psl.1_Missense_Mutation_p.R140G	p.R184G	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	6	724	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	184			Ig-like V-type 2.|Extracellular (Potential).		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	c.550C>G	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	G	7.383	0.629173	0.14257	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867	D;D;D;D	0.94537	-3.45;-3.45;-3.41;-3.45	4.26	-0.719	0.11201	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.534510	0.03913	N	0.282253	D	0.90352	0.6981	L	0.44542	1.39	0.09310	N	1	P;P;P;P;P	0.39920	0.695;0.695;0.695;0.695;0.646	B;B;B;B;B	0.39660	0.306;0.306;0.306;0.306;0.203	T	0.81185	-0.1048	10	0.35671	T	0.21	0.8174	2.4244	0.04455	0.2793:0.0:0.3162:0.4045	.	184;145;184;173;174	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	G	184;174;173;145;145	ENSP00000348635:R184G;ENSP00000292067:R174G;ENSP00000436117:R173G;ENSP00000431218:R145G	ENSP00000292067:R174G	R	-	1	0	AMICA1	117579575	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.403000	0.02497	0.011000	0.14865	0.491000	0.48974	CGT		PASS	0.502	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		28	170	28	170	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118530458	118530458	+	IGR	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:118530458C>A	ENST00000361417.2	+	0	5753				TREH_ENST00000397925.1_Nonsense_Mutation_p.E409*|TREH_ENST00000264029.4_Nonsense_Mutation_p.E440*|TREH_ENST00000530256.1_Nonsense_Mutation_p.E317*|TREH_ENST00000529101.1_Nonsense_Mutation_p.E440*|TREH_ENST00000525958.1_Nonsense_Mutation_p.E409*	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1									p.E440*(1)|p.E317*(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCCCTCACCTCCAGGTATTTC	0.627											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pty.1																			2	Substitution - Nonsense(2)		lung(2)	pancreas(1)	1						c.(1318-1320)GAG>TAG		trehalase precursor							14.0	15.0	15.0					11																	118530458		2134	4233	6367	SO:0001628	intergenic_variant	11181				polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity	g.chr11:118530458C>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341		11.37:g.118530458C>A			OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1489	TREH_uc009zaj.1_Nonsense_Mutation_p.E409*|TREH_uc001ptz.1_Nonsense_Mutation_p.E317*	p.E440*	NM_007180	NP_009111	O43280	TREA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)	11	1363	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)	440					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Nonsense_Mutation	SNP	ENST00000361417.2	37	c.1318G>T	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	37	6.485589	0.97607	.	.	ENSG00000118094	ENST00000529101;ENST00000530256;ENST00000264029;ENST00000450700;ENST00000525958;ENST00000397925	.	.	.	5.3	4.38	0.52667	.	0.113450	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-36.4438	13.4272	0.61032	0.0:0.8427:0.1573:0.0	.	.	.	.	X	440;317;440;317;409;409	.	ENSP00000264029:E440X	E	-	1	0	TREH	118035668	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	1.592000	0.36676	1.438000	0.47492	0.655000	0.94253	GAG		PASS	0.627	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		3	15	3	15	---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119535588	119535588	+	Missense_Mutation	SNP	C	C	T	rs371752868		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:119535588C>T	ENST00000264025.3	-	6	1953	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	475					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E475*(1)|p.E475K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TGACGGGCCTCGGCCTCATCC	0.662																																						uc001pwv.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(1)|liver(1)		0						c.(1423-1425)GAG>AAG		poliovirus receptor-related 1 isoform 1							54.0	47.0	49.0					11																	119535588		2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535588C>T	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1423G>A	11.37:g.119535588C>T	ENSP00000264025:p.Glu475Lys					PVRL1_uc001pwu.1_Intron	p.E475K	NM_002855	NP_002846	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1595	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	475			Cytoplasmic (Potential).		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.1423G>A	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	-	22.2	4.255008	0.80135	.	.	ENSG00000110400	ENST00000264025	T	0.18960	2.18	4.08	4.08	0.47627	.	0.122625	0.53938	D	0.000055	T	0.19805	0.0476	L	0.46157	1.445	0.80722	D	1	D	0.56746	0.977	B	0.38842	0.283	T	0.12734	-1.0536	10	0.72032	D	0.01	.	16.1729	0.81831	0.0:1.0:0.0:0.0	.	475	Q15223	PVRL1_HUMAN	K	475	ENSP00000264025:E475K	ENSP00000264025:E475K	E	-	1	0	PVRL1	119040798	1.000000	0.71417	0.947000	0.38551	0.973000	0.67179	4.453000	0.60061	2.213000	0.71641	0.479000	0.44913	GAG		PASS	0.662	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			7	44	7	44	---	---	---	---
OR10G9	219870	broad.mit.edu	37	11	123893842	123893842	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:123893842C>T	ENST00000375024.1	+	1	123	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L41L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGGGAACCTCCTCATCCTGC	0.567																																						uc010sad.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(121-123)CTC>CTT		olfactory receptor, family 10, subfamily G,							112.0	103.0	106.0					11																	123893842		2201	4296	6497	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893842C>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.123C>T	11.37:g.123893842C>T							p.L41L	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	123	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	41			Helical; Name=1; (Potential).			Silent	SNP	ENST00000375024.1	37	c.123C>T	CCDS31703.1																																																																																				PASS	0.567	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		7	190	7	190	---	---	---	---
OR10G7	390265	broad.mit.edu	37	11	123909586	123909586	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:123909586G>A	ENST00000330487.5	-	1	131	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L41L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCAGGATGAGGAGGTTCCCCA	0.572																																						uc001pzq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(121-123)CTC>CTT		olfactory receptor, family 10, subfamily G,							49.0	45.0	47.0					11																	123909586		2200	4291	6491	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909586G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.123C>T	11.37:g.123909586G>A							p.L41L	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	123	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	41			Helical; Name=1; (Potential).		Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.123C>T	CCDS31705.1																																																																																				PASS	0.572	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		22	178	22	178	---	---	---	---
MSANTD2	79684	broad.mit.edu	37	11	124637776	124637776	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:124637776C>T	ENST00000374979.3	-	4	984	c.976G>A	c.(976-978)Gag>Aag	p.E326K	MSANTD2_ENST00000239614.4_Missense_Mutation_p.E274K|RP11-677M14.3_ENST00000504932.2_RNA|MSANTD2_ENST00000526629.1_Missense_Mutation_p.E96K|MSANTD2_ENST00000524950.1_3'UTR|RP11-677M14.3_ENST00000532579.1_RNA			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	326								p.E274K(1)									CGGATATCCTCTTTCCAACGG	0.458																																						uc001qba.1																			1	Substitution - Missense(1)		lung(1)		0						c.(976-978)GAG>AAG		hypothetical protein LOC79684							92.0	97.0	95.0					11																	124637776		2201	4299	6500	SO:0001583	missense	79684							g.chr11:124637776C>T	AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 61"""	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.976G>A	11.37:g.124637776C>T	ENSP00000364118:p.Glu326Lys					C11orf61_uc001qaz.1_Missense_Mutation_p.E274K|C11orf61_uc010sap.1_Missense_Mutation_p.E46K|C11orf61_uc001qay.1_Missense_Mutation_p.E96K	p.E326K	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0079)	4	999	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	326					B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	ENST00000374979.3	37	c.976G>A		.	.	.	.	.	.	.	.	.	.	C	19.76	3.887959	0.72410	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000526629	.	.	.	5.63	5.63	0.86233	.	0.057550	0.64402	D	0.000001	T	0.51652	0.1687	N	0.19112	0.55	0.80722	D	1	P;P	0.44139	0.651;0.827	B;B	0.44133	0.214;0.442	T	0.57283	-0.7838	9	0.72032	D	0.01	-13.9388	20.0529	0.97634	0.0:1.0:0.0:0.0	.	326;274	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	K	274;326;96	.	ENSP00000239614:E274K	E	-	1	0	C11orf61	124142986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.358000	0.79466	2.814000	0.96858	0.591000	0.81541	GAG		PASS	0.458	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000387084.1	NM_024631		11	188	11	188	---	---	---	---
ETS1	2113	broad.mit.edu	37	11	128350330	128350330	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:128350330C>A	ENST00000319397.6	-	6	1056	c.747G>T	c.(745-747)caG>caT	p.Q249H	ETS1_ENST00000345075.4_Intron|ETS1_ENST00000535549.1_Missense_Mutation_p.Q33H|ETS1_ENST00000526145.2_Intron|ETS1_ENST00000531611.1_Missense_Mutation_p.Q249H|ETS1_ENST00000392668.4_Missense_Mutation_p.Q293H	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	249					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q249H(1)|p.Q293H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CAAAAGAGTCCTGGCCCCCGA	0.512																																						uc010sbs.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|central_nervous_system(1)|pleura(1)	6						c.(745-747)CAG>CAT		v-ets erythroblastosis virus E26 oncogene							45.0	48.0	47.0					11																	128350330		2201	4297	6498	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128350330C>A		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.747G>T	11.37:g.128350330C>A	ENSP00000324578:p.Gln249His					ETS1_uc001qej.2_Missense_Mutation_p.Q293H|ETS1_uc009zch.2_Missense_Mutation_p.Q33H|ETS1_uc009zcg.2_Missense_Mutation_p.Q249H	p.Q249H	NM_005238	NP_005229	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	6	1063	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	249					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.747G>T	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625566	0.66901	.	.	ENSG00000134954	ENST00000535549;ENST00000392668;ENST00000531611;ENST00000319397	T;T;T;T	0.49432	2.24;2.71;0.78;2.72	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	N	0.25890	0.77	0.58432	D	0.999999	D;P;D;D	0.65815	0.98;0.869;0.995;0.99	D;B;D;P	0.77557	0.965;0.385;0.99;0.804	T	0.41360	-0.9513	10	0.09084	T	0.74	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	249;33;249;293	P14921;F5GYX9;Q96AC5;Q6N087	ETS1_HUMAN;.;.;.	H	33;293;249;249	ENSP00000441430:Q33H;ENSP00000376436:Q293H;ENSP00000435666:Q249H;ENSP00000324578:Q249H	ENSP00000324578:Q249H	Q	-	3	2	ETS1	127855540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.764000	0.55264	2.636000	0.89361	0.655000	0.94253	CAG		PASS	0.512	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		18	75	18	75	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133789895	133789895	+	Missense_Mutation	SNP	G	G	A	rs376944502	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr11:133789895G>A	ENST00000321016.8	-	18	3955	c.3725C>T	c.(3724-3726)cCg>cTg	p.P1242L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P1242L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1242	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.P698L(1)|p.P1242L(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GACTGCAGCCGGCGGCTGCAG	0.701																																						uc001qgx.3																			2	Substitution - Missense(2)		lung(2)		0						c.(3724-3726)CCG>CTG		immunoglobulin superfamily, member 9B							19.0	24.0	22.0					11																	133789895		1843	4076	5919	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133789895G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3725C>T	11.37:g.133789895G>A	ENSP00000317980:p.Pro1242Leu						p.P1242L	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3956	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1242			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3725C>T		.	.	.	.	.	.	.	.	.	.	G	13.30	2.195115	0.38806	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.69926	-0.11;-0.44	5.11	5.11	0.69529	.	0.000000	0.44285	D	0.000466	T	0.62196	0.2408	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	P	0.48334	0.574	T	0.68784	-0.5317	10	0.72032	D	0.01	.	18.1257	0.89585	0.0:0.0:1.0:0.0	.	1242	Q9UPX0	TUTLB_HUMAN	L	1242;1084	ENSP00000317980:P1242L;ENSP00000436552:P1084L	ENSP00000317980:P1242L	P	-	2	0	IGSF9B	133295105	1.000000	0.71417	0.945000	0.38365	0.195000	0.23768	8.724000	0.91462	2.381000	0.81170	0.555000	0.69702	CCG		PASS	0.701	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		7	49	7	49	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	989042	989042	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:989042C>G	ENST00000315939.6	+	11	3320	c.2677C>G	c.(2677-2679)Cct>Gct	p.P893A	WNK1_ENST00000340908.4_Missense_Mutation_p.P486A|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.P1391A	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	893					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.P893A(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AACTGTGGTTCCTAGTCAGCT	0.547																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			1	Substitution - Missense(1)		lung(1)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(2677-2679)CCT>GCT		WNK lysine deficient protein kinase 1							136.0	113.0	121.0					12																	989042		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:989042C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2677C>G	12.37:g.989042C>G	ENSP00000313059:p.Pro893Ala					WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	p.P893A	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		11	3184	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		893					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.2677C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421702	0.43020	.	.	ENSG00000060237	ENST00000315939;ENST00000530271;ENST00000340908;ENST00000535698	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.75	4.84	0.62591	.	0.203527	0.34906	N	0.003590	T	0.20129	0.0484	L	0.32530	0.975	0.45567	D	0.99851	B	0.13145	0.007	B	0.18263	0.021	T	0.02144	-1.1206	10	0.62326	D	0.03	-7.7324	16.6791	0.85287	0.0:0.8701:0.1299:0.0	.	893	Q9H4A3	WNK1_HUMAN	A	893;1391;486;163	ENSP00000313059:P893A;ENSP00000433548:P1391A;ENSP00000341292:P486A;ENSP00000439552:P163A	ENSP00000313059:P893A	P	+	1	0	WNK1	859303	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.951000	0.40333	1.387000	0.46486	0.557000	0.71058	CCT		PASS	0.547	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		8	262	8	262	---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5153935	5153935	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:5153935G>A	ENST00000252321.3	+	1	851	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	208					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.E208K(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GCTGGGGGACGAGGCCATGGA	0.617																																						uc001qni.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(622-624)GAG>AAG		potassium voltage-gated channel, shaker-related							47.0	51.0	50.0					12																	5153935		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153935G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.622G>A	12.37:g.5153935G>A	ENSP00000252321:p.Glu208Lys						p.E208K	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	851	+			208					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.622G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497041	0.64186	.	.	ENSG00000130037	ENST00000252321	T	0.76709	-1.04	4.77	3.85	0.44370	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000001	T	0.76407	0.3983	M	0.78456	2.415	0.54753	D	0.999987	P	0.44260	0.83	B	0.37346	0.247	T	0.80473	-0.1367	10	0.72032	D	0.01	.	14.0121	0.64503	0.0:0.1523:0.8477:0.0	.	208	P22460	KCNA5_HUMAN	K	208	ENSP00000252321:E208K	ENSP00000252321:E208K	E	+	1	0	KCNA5	5024196	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.736000	0.84948	1.195000	0.43115	0.561000	0.74099	GAG		PASS	0.617	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		8	168	8	168	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9020498	9020498	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:9020498G>A	ENST00000299698.7	+	30	3958	c.3778G>A	c.(3778-3780)Gag>Aag	p.E1260K	A2ML1_ENST00000539547.1_Missense_Mutation_p.E769K	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.E1260K(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CATGCCATCTGAGGAGATCAA	0.443																																						uc001quz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3778-3780)GAG>AAG		alpha-2-macroglobulin-like 1 precursor							125.0	113.0	117.0					12																	9020498		1945	4140	6085	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9020498G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3778G>A	12.37:g.9020498G>A	ENSP00000299698:p.Glu1260Lys					A2ML1_uc001qva.1_Missense_Mutation_p.E840K|A2ML1_uc010sgm.1_Missense_Mutation_p.E760K|A2ML1_uc001qvb.1_RNA	p.E1260K	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			30	3876	+			1104						Missense_Mutation	SNP	ENST00000299698.7	37	c.3778G>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	7.963	0.747325	0.15710	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.30182	1.54;1.66;2.21	3.63	1.79	0.24919	.	0.332441	0.24791	N	0.035570	T	0.23532	0.0569	L	0.42245	1.32	0.09310	N	1	P	0.46859	0.885	B	0.41571	0.36	T	0.09015	-1.0694	10	0.36615	T	0.2	.	8.5496	0.33444	0.1987:0.0:0.8013:0.0	.	1260	A8K2U0	A2ML1_HUMAN	K	1260;1260;810;769	ENSP00000299698:E1260K;ENSP00000443174:E810K;ENSP00000438292:E769K	ENSP00000299698:E1260K	E	+	1	0	A2ML1	8911765	0.048000	0.20356	0.007000	0.13788	0.074000	0.17049	1.514000	0.35834	0.517000	0.28361	0.561000	0.74099	GAG		PASS	0.443	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		29	200	29	200	---	---	---	---
CLEC1B	51266	broad.mit.edu	37	12	10151638	10151638	+	Missense_Mutation	SNP	G	G	T	rs373622374		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:10151638G>T	ENST00000298527.6	-	1	241	c.62C>A	c.(61-63)tCc>tAc	p.S21Y	CLEC1B_ENST00000348658.4_Missense_Mutation_p.S21Y|CLEC1B_ENST00000428126.2_Missense_Mutation_p.S21Y	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	21					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.S21Y(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						ATTCTTACCGGAGATGAGAGC	0.333																																						uc001qwu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)TCC>TAC		C-type lectin domain family 1, member B isoform							190.0	179.0	183.0					12																	10151638		1832	4077	5909	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10151638G>T	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.62C>A	12.37:g.10151638G>T	ENSP00000298527:p.Ser21Tyr					CLEC1B_uc009zhd.2_Missense_Mutation_p.S21Y	p.S21Y	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN			1	262	-			21			Cytoplasmic (Potential).		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.62C>A	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331218	0.41297	.	.	ENSG00000165682	ENST00000428126;ENST00000298527;ENST00000348658	T;T;T	0.01787	4.64;4.88;4.64	5.67	5.67	0.87782	.	0.368104	0.20073	N	0.099823	T	0.10165	0.0249	M	0.74258	2.255	0.27100	N	0.962645	D;D	0.89917	1.0;1.0	D;D	0.73380	0.977;0.98	T	0.01202	-1.1420	10	0.62326	D	0.03	.	15.2731	0.73720	0.0:0.0:1.0:0.0	.	21;21	Q9P126-2;Q9P126	.;CLC1B_HUMAN	Y	21	ENSP00000406338:S21Y;ENSP00000298527:S21Y;ENSP00000327169:S21Y	ENSP00000298527:S21Y	S	-	2	0	CLEC1B	10042905	1.000000	0.71417	0.996000	0.52242	0.042000	0.13812	4.316000	0.59178	2.677000	0.91161	0.655000	0.94253	TCC		PASS	0.333	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		50	383	50	383	---	---	---	---
KLRAP1	10748	broad.mit.edu	37	12	10746462	10746462	+	RNA	SNP	G	G	A	rs577443747		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:10746462G>A	ENST00000510134.2	-	0	457									killer cell lectin-like receptor subfamily A pseudogene 1									p.L195L(1)		breast(1)|large_intestine(1)|lung(1)	3						TGTAAAATACGAGTTCATCTT	0.373													g|||	1	0.000199681	0.0	0.0014	5008	,	,		21102	0.0		0.0	False		,,,				2504	0.0					uc010shf.1																			1	Substitution - coding silent(1)		lung(1)		0								Homo sapiens Ly-49L (LY49L) mRNA, complete cds.							110.0	100.0	103.0					12																	10746462		2203	4300	6503			10748							g.chr12:10746462G>A	AF047445		12p13.2	2012-01-16	2010-10-28	2010-10-28	ENSG00000256667	ENSG00000256667		"""Killer cell lectin-like receptors"""	6372	pseudogene	pseudogene		604274	"""killer cell lectin-like receptor subfamily A, member 1"""	KLRA1		9645365	Standard	NR_028045		Approved	Ly49, LY49L	uc009zho.3		OTTHUMG00000160127		12.37:g.10746462G>A						KLRA1_uc010shg.1_RNA|KLRA1_uc009zho.2_RNA|KLRA1_uc009zhn.2_RNA		NM_006611						5		-									RNA	SNP	ENST00000510134.2	37	c.951C>T																																																																																					PASS	0.373	KLRAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359305.2	NR_028045		7	114	7	114	---	---	---	---
TAS2R10	50839	broad.mit.edu	37	12	10978130	10978130	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:10978130T>C	ENST00000240619.2	-	1	827	c.739A>G	c.(739-741)Ata>Gta	p.I247V		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	247					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.I247V(1)|p.I247L(1)		breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AAACATGATATTTCTATGGCC	0.378																																						uc001qyy.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(739-741)ATA>GTA		taste receptor, type 2, member 10							104.0	102.0	103.0					12																	10978130		2203	4300	6503	SO:0001583	missense	50839				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10978130T>C	AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.739A>G	12.37:g.10978130T>C	ENSP00000240619:p.Ile247Val						p.I247V	NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN			1	739	-			247			Helical; Name=6; (Potential).		Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	c.739A>G	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	T	1.320	-0.599800	0.03744	.	.	ENSG00000121318	ENST00000240619	T	0.00745	5.75	4.04	-2.67	0.06059	.	0.640097	0.12626	N	0.452612	T	0.00496	0.0016	N	0.21448	0.665	0.09310	N	1	B	0.15473	0.013	B	0.21708	0.036	T	0.46484	-0.9188	10	0.05436	T	0.98	.	3.1554	0.06503	0.4674:0.2365:0.0:0.2961	.	247	Q9NYW0	T2R10_HUMAN	V	247	ENSP00000240619:I247V	ENSP00000240619:I247V	I	-	1	0	TAS2R10	10869397	0.000000	0.05858	0.007000	0.13788	0.064000	0.16182	-5.237000	0.00138	-0.573000	0.05998	0.477000	0.44152	ATA		PASS	0.378	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1			88	219	88	219	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14650913	14650913	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:14650913A>G	ENST00000540793.1	+	14	3874	c.3719A>G	c.(3718-3720)tAc>tGc	p.Y1240C	ATF7IP_ENST00000536444.1_Missense_Mutation_p.Y1239C|ATF7IP_ENST00000261168.4_Missense_Mutation_p.Y1240C|ATF7IP_ENST00000544627.1_Missense_Mutation_p.Y1248C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1240	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Interaction with MBD1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.Y1240C(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGCAAATACTACTTTGCAGTA	0.468																																						uc001rbw.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(3718-3720)TAC>TGC		activating transcription factor 7 interacting							149.0	139.0	142.0					12																	14650913		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14650913A>G	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3719A>G	12.37:g.14650913A>G	ENSP00000444589:p.Tyr1240Cys					ATF7IP_uc001rbx.2_Missense_Mutation_p.Y1239C|ATF7IP_uc001rby.3_Missense_Mutation_p.Y1240C|ATF7IP_uc001rca.2_Missense_Mutation_p.Y1240C	p.Y1240C	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			15	3877	+			1240			Interaction with MBD1.|Fibronectin type-III.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.3719A>G	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.143593	0.77888	.	.	ENSG00000171681	ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	6.08	6.08	0.98989	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000025	T	0.52805	0.1757	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.53272	-0.8462	10	0.87932	D	0	-6.9757	16.6438	0.85155	1.0:0.0:0.0:0.0	.	1239;1240	G3V1U0;Q6VMQ6	.;MCAF1_HUMAN	C	1240;1239;1248;1240	ENSP00000261168:Y1240C;ENSP00000445955:Y1239C;ENSP00000440440:Y1248C;ENSP00000444589:Y1240C	ENSP00000261168:Y1240C	Y	+	2	0	ATF7IP	14542180	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.334000	0.96470	2.333000	0.79357	0.533000	0.62120	TAC		PASS	0.468	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		148	364	148	364	---	---	---	---
ARNTL2	56938	broad.mit.edu	37	12	27540214	27540214	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:27540214C>T	ENST00000266503.5	+	7	636	c.618C>T	c.(616-618)ttC>ttT	p.F206F	ARNTL2_ENST00000544915.1_Silent_p.F172F|ARNTL2_ENST00000542388.1_Silent_p.F121F|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000395901.2_Silent_p.F169F|ARNTL2_ENST00000261178.5_Silent_p.F158F|ARNTL2_ENST00000311001.5_Silent_p.F192F|ARNTL2_ENST00000546179.1_Silent_p.F169F			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	206	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.F206F(2)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AAATTCTCTTCGTTTCTAAGT	0.284																																						uc001rht.1																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(1)|skin(1)	2						c.(616-618)TTC>TTT		aryl hydrocarbon receptor nuclear							109.0	113.0	111.0					12																	27540214		2203	4300	6503	SO:0001819	synonymous_variant	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27540214C>T	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.618C>T	12.37:g.27540214C>T						ARNTL2_uc001rhw.2_Silent_p.F169F|ARNTL2_uc010sjp.1_Silent_p.F169F|ARNTL2_uc001rhu.1_Silent_p.F192F|ARNTL2_uc009zji.1_Silent_p.F172F|ARNTL2_uc001rhv.1_Silent_p.F158F	p.F206F	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN			7	636	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		206			PAS 1.		B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Silent	SNP	ENST00000266503.5	37	c.618C>T	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	C	9.005	0.980950	0.18812	.	.	ENSG00000029153	ENST00000457040	.	.	.	3.79	0.931	0.19460	.	.	.	.	.	T	0.51160	0.1658	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39187	-0.9626	4	.	.	.	.	5.0707	0.14606	0.0:0.4726:0.0:0.5274	.	.	.	.	L	158	.	.	S	+	2	0	ARNTL2	27431481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.397000	0.34543	0.397000	0.25310	0.655000	0.94253	TCG		PASS	0.284	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183		30	134	30	134	---	---	---	---
FGD4	121512	broad.mit.edu	37	12	32772696	32772696	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:32772696G>A	ENST00000427716.2	+	11	1827	c.1403G>A	c.(1402-1404)cGa>cAa	p.R468Q	FGD4_ENST00000266482.3_Missense_Mutation_p.R220Q|FGD4_ENST00000546442.1_Missense_Mutation_p.R375Q|FGD4_ENST00000525053.1_Missense_Mutation_p.R580Q|FGD4_ENST00000531134.1_Missense_Mutation_p.R553Q|FGD4_ENST00000381025.3_Missense_Mutation_p.R220Q|FGD4_ENST00000534526.2_Missense_Mutation_p.R605Q	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	468	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R468Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TTCACAGTTCGAACCAGGGTT	0.408																																						uc001rkz.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(2)|central_nervous_system(1)	3						c.(1402-1404)CGA>CAA		FYVE, RhoGEF and PH domain containing 4							128.0	121.0	123.0					12																	32772696		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32772696G>A	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1403G>A	12.37:g.32772696G>A	ENSP00000394487:p.Arg468Gln					FGD4_uc001rlc.2_Missense_Mutation_p.R553Q|FGD4_uc001rky.2_Missense_Mutation_p.R220Q|FGD4_uc001rla.2_Missense_Mutation_p.R124Q|FGD4_uc010ske.1_Missense_Mutation_p.R580Q|FGD4_uc001rlb.1_RNA	p.R468Q	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			11	1880	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		468			PH 1.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.1403G>A	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368336	0.95900	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-1.72	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.40818	N	0.001013	D	0.91640	0.7358	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;1.0;0.984	D	0.91992	0.5604	10	0.72032	D	0.01	-9.9385	19.7657	0.96340	0.0:0.0:1.0:0.0	.	580;553;468;220	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	Q	605;553;468;220;375;580;220	ENSP00000449273:R605Q;ENSP00000431323:R553Q;ENSP00000394487:R468Q;ENSP00000266482:R220Q;ENSP00000446695:R375Q;ENSP00000433666:R580Q;ENSP00000370413:R220Q	ENSP00000266482:R220Q	R	+	2	0	FGD4	32663963	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.169000	0.94788	2.649000	0.89929	0.655000	0.94253	CGA		PASS	0.408	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		44	239	44	239	---	---	---	---
ALG10B	144245	broad.mit.edu	37	12	38714227	38714227	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:38714227G>C	ENST00000308742.4	+	3	950	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	212					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)	p.E212Q(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTGGAAAACTGAGCTACAAAA	0.388																																						uc001rln.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(634-636)GAG>CAG		asparagine-linked glycosylation 10 homolog B							127.0	130.0	129.0					12																	38714227		2203	4299	6502	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714227G>C	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.634G>C	12.37:g.38714227G>C	ENSP00000310120:p.Glu212Gln					ALG10B_uc001rlo.3_Missense_Mutation_p.E182Q|ALG10B_uc010skk.1_Missense_Mutation_p.E152Q	p.E212Q	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN			3	773	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	212			Cytoplasmic (Potential).		B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.634G>C	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	N	11.69	1.715312	0.30413	.	.	ENSG00000175548	ENST00000308742	T	0.55413	0.52	3.24	3.24	0.37175	.	0.206155	0.49916	D	0.000121	T	0.35653	0.0939	N	0.25647	0.755	0.80722	D	1	P	0.35468	0.503	B	0.37833	0.259	T	0.07271	-1.0781	10	0.15952	T	0.53	.	8.6417	0.33981	0.0:0.2359:0.7641:0.0	.	212	Q5I7T1	AG10B_HUMAN	Q	212	ENSP00000310120:E212Q	ENSP00000310120:E212Q	E	+	1	0	ALG10B	37000494	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	4.753000	0.62183	2.115000	0.64714	0.549000	0.68633	GAG		PASS	0.388	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		23	377	23	377	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40629431	40629431	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:40629431G>A	ENST00000298910.7	+	4	409	c.351G>A	c.(349-351)ttG>ttA	p.L117L	LRRK2_ENST00000343742.2_Silent_p.L117L	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	117					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.L117L(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACTCCAGATTGATTCTTAAAA	0.308																																						uc001rmg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(349-351)TTG>TTA		leucine-rich repeat kinase 2							131.0	122.0	125.0					12																	40629431		2203	4299	6502	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40629431G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.351G>A	12.37:g.40629431G>A							p.L117L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			4	472	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	117					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.351G>A	CCDS31774.1																																																																																				PASS	0.308	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		6	99	6	99	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40753184	40753184	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:40753184G>A	ENST00000298910.7	+	47	7024	c.6966G>A	c.(6964-6966)aaG>aaA	p.K2322K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.K2329K(1)|p.K2322K(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTGGCACAAAGATTTTCTCCT	0.328																																						uc001rmg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(6964-6966)AAG>AAA		leucine-rich repeat kinase 2							104.0	103.0	103.0					12																	40753184		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40753184G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6966G>A	12.37:g.40753184G>A						LRRK2_uc009zjw.2_Silent_p.K1160K|LRRK2_uc001rmi.2_Silent_p.K1155K	p.K2322K	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			47	7087	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2322					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.6966G>A	CCDS31774.1																																																																																				PASS	0.328	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		20	127	20	127	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43825197	43825197	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:43825197C>A	ENST00000389420.3	-	22	3198	c.3199G>T	c.(3199-3201)Gaa>Taa	p.E1067*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.E1067*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.E221*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1067	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E1067*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCAGAGATTCAGGTTTGGTA	0.428																																						uc010skx.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(3199-3201)GAA>TAA		a disintegrin-like and metalloprotease with							155.0	136.0	142.0					12																	43825197		2203	4300	6503	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43825197C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3199G>T	12.37:g.43825197C>A	ENSP00000374071:p.Glu1067*					ADAMTS20_uc001rno.1_Nonsense_Mutation_p.E221*|ADAMTS20_uc001rnp.1_Nonsense_Mutation_p.E221*	p.E1067*	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	22	3199	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1067			TSP type-1 5.		A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.3199G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	c	38	7.073416	0.98044	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	3.97	3.97	0.46021	.	0.253041	0.27402	N	0.019523	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	12.1247	0.53910	0.1718:0.8282:0.0:0.0	.	.	.	.	X	1067;233;221;1067;1067	.	ENSP00000374068:E1067X	E	-	1	0	ADAMTS20	42111464	0.979000	0.34478	0.984000	0.44739	0.609000	0.37215	1.647000	0.37260	2.140000	0.66376	0.651000	0.88453	GAA		PASS	0.428	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		28	133	28	133	---	---	---	---
CCDC65	85478	broad.mit.edu	37	12	49298764	49298764	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:49298764G>A	ENST00000320516.4	+	2	356	c.168G>A	c.(166-168)ctG>ctA	p.L56L	RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Silent_p.L56L	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	56								p.L56L(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						ACAGTGCTCTGAACCTTAATA	0.438																																						uc001rso.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(166-168)CTG>CTA		coiled-coil domain containing 65							101.0	86.0	91.0					12																	49298764		2203	4300	6503	SO:0001819	synonymous_variant	85478							g.chr12:49298764G>A		CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.168G>A	12.37:g.49298764G>A							p.L56L	NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN			2	395	+			56					A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Silent	SNP	ENST00000320516.4	37	c.168G>A	CCDS8772.1																																																																																				PASS	0.438	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124		9	123	9	123	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49434859	49434859	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:49434859C>T	ENST00000301067.7	-	31	6693	c.6694G>A	c.(6694-6696)Ggc>Agc	p.G2232S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2232	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G2232S(1)|p.G1962S(1)									CTGGGGGTGCCAGGTGGGGTA	0.672																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(6694-6696)GGC>AGC		myeloid/lymphoid or mixed-lineage leukemia 2							34.0	40.0	38.0					12																	49434859		1917	4132	6049	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49434859C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6694G>A	12.37:g.49434859C>T	ENSP00000301067:p.Gly2232Ser	HNSCC(34;0.089)					p.G2232S	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	6694	-			2232			Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.6694G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882829	0.33255	.	.	ENSG00000167548	ENST00000301067	T	0.80393	-1.37	4.67	4.67	0.58626	.	0.225081	0.22894	N	0.054345	T	0.70544	0.3236	N	0.19112	0.55	0.39786	D	0.972373	B	0.32918	0.39	B	0.31290	0.127	T	0.75542	-0.3281	10	0.87932	D	0	.	17.222	0.86960	0.0:1.0:0.0:0.0	.	2232	O14686	MLL2_HUMAN	S	2232	ENSP00000301067:G2232S	ENSP00000301067:G2232S	G	-	1	0	MLL2	47721126	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	3.918000	0.56432	2.536000	0.85505	0.655000	0.94253	GGC		PASS	0.672	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			58	70	58	70	---	---	---	---
KRT6B	3854	broad.mit.edu	37	12	52845454	52845454	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:52845454C>G	ENST00000252252.3	-	1	456	c.409G>C	c.(409-411)Gag>Cag	p.E137Q		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	137	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.E137Q(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		ACAGTGACCTCTTGGATGCCT	0.642																																						uc001sak.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(409-411)GAG>CAG		keratin 6B							127.0	170.0	156.0					12																	52845454		2201	4300	6501	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52845454C>G	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.409G>C	12.37:g.52845454C>G	ENSP00000252252:p.Glu137Gln						p.E137Q	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	1	457	-			137			Head.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.409G>C	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681518	0.47991	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.91792	-2.91	3.28	3.28	0.37604	.	0.000000	0.64402	D	0.000010	D	0.90120	0.6913	L	0.53561	1.675	0.38951	D	0.958356	P	0.45212	0.853	B	0.44163	0.443	D	0.89290	0.3618	10	0.23302	T	0.38	.	15.9007	0.79373	0.0:1.0:0.0:0.0	.	137	P04259	K2C6B_HUMAN	Q	137	ENSP00000252252:E137Q	ENSP00000252252:E137Q	E	-	1	0	KRT6B	51131721	.	.	1.000000	0.80357	0.926000	0.56050	.	.	2.160000	0.67779	0.298000	0.19748	GAG		PASS	0.642	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		41	160	41	160	---	---	---	---
SPRYD3	84926	broad.mit.edu	37	12	53460234	53460234	+	Missense_Mutation	SNP	G	G	A	rs202193793		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:53460234G>A	ENST00000301463.4	-	10	1144	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	SPRYD3_ENST00000547837.1_Missense_Mutation_p.S390F	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	353								p.S353F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GGCAGTCGGAGACAGGATCAC	0.597											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sbt.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1057-1059)TCT>TTT		SPRY domain containing 3							129.0	108.0	115.0					12																	53460234		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53460234G>A	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.1058C>T	12.37:g.53460234G>A	ENSP00000301463:p.Ser353Phe		OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	992		p.S353F	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN			10	1079	-			353					B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.1058C>T	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	g	17.78	3.474004	0.63737	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	.	.	.	4.87	4.87	0.63330	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);	0.376195	0.25922	N	0.027435	T	0.43897	0.1268	L	0.34521	1.04	0.36782	D	0.884411	B	0.02656	0.0	B	0.01281	0.0	T	0.42716	-0.9435	9	0.10902	T	0.67	-9.2851	13.8992	0.63792	0.0:0.0:1.0:0.0	.	353	Q8NCJ5	SPRY3_HUMAN	F	353;390	.	ENSP00000301463:S353F	S	-	2	0	SPRYD3	51746501	0.983000	0.35010	1.000000	0.80357	0.968000	0.65278	1.414000	0.34736	2.419000	0.82065	0.651000	0.88453	TCT		PASS	0.597	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		6	123	6	123	---	---	---	---
HOXC11	3227	broad.mit.edu	37	12	54367306	54367306	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:54367306C>A	ENST00000546378.1	+	1	397	c.281C>A	c.(280-282)gCg>gAg	p.A94E	HOXC11_ENST00000243082.4_Missense_Mutation_p.A94E|HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA			O43248	HXC11_HUMAN	homeobox C11	94					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|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)	p.A94E(1)		large_intestine(1)|ovary(1)	2						TCCTGCTATGCGGCGGCCGAC	0.647			T	NUP98	AML																																	uc001sem.2				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(280-282)GCG>GAG		homeobox C11							89.0	97.0	94.0					12																	54367306		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367306C>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.281C>A	12.37:g.54367306C>A	ENSP00000446680:p.Ala94Glu						p.A94E	NM_014212	NP_055027	O43248	HXC11_HUMAN			1	397	+			94					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.281C>A	CCDS8867.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778983	0.31502	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.48836	0.8;0.8	4.31	4.31	0.51392	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.106857	0.40302	N	0.001127	T	0.28433	0.0703	N	0.08118	0	0.38631	D	0.951375	P	0.43169	0.8	B	0.36766	0.232	T	0.42882	-0.9425	10	0.62326	D	0.03	.	16.0846	0.81031	0.0:1.0:0.0:0.0	.	94	O43248	HXC11_HUMAN	E	94	ENSP00000446680:A94E;ENSP00000243082:A94E	ENSP00000243082:A94E	A	+	2	0	HOXC11	52653573	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	7.288000	0.78691	2.386000	0.81285	0.555000	0.69702	GCG		PASS	0.647	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2			67	239	67	239	---	---	---	---
HOXC9	3225	broad.mit.edu	37	12	54396286	54396286	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:54396286C>T	ENST00000303450.4	+	2	681	c.611C>T	c.(610-612)aCg>aTg	p.T204M	HOXC9_ENST00000508190.1_Missense_Mutation_p.T204M|HOXC-AS1_ENST00000505700.1_RNA|HOXC-AS1_ENST00000512427.1_RNA|HOXC9_ENST00000504557.1_3'UTR|RP11-834C11.12_ENST00000513209.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	204					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T204M(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AAGTACCAGACGCTGGAACTG	0.572																																						uc001sep.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)|skin(1)	3						c.(610-612)ACG>ATG		homeobox C9							79.0	83.0	81.0					12																	54396286		2203	4300	6503	SO:0001583	missense	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54396286C>T		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.611C>T	12.37:g.54396286C>T	ENSP00000302836:p.Thr204Met					HOXC9_uc001seq.2_Missense_Mutation_p.T204M	p.T204M	NM_006897	NP_008828	P31274	HXC9_HUMAN			3	709	+			204			Homeobox.		B2RCN7|Q9H1I0	Missense_Mutation	SNP	ENST00000303450.4	37	c.611C>T	CCDS8869.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648301	0.67358	.	.	ENSG00000180806	ENST00000508190;ENST00000303450	D;D	0.96427	-4.01;-4.01	3.99	3.99	0.46301	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.97436	0.9161	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98087	1.0407	10	0.87932	D	0	.	15.3675	0.74535	0.0:1.0:0.0:0.0	.	204	P31274	HXC9_HUMAN	M	204	ENSP00000423861:T204M;ENSP00000302836:T204M	ENSP00000302836:T204M	T	+	2	0	HOXC9	52682553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.524000	0.81866	2.244000	0.73946	0.561000	0.74099	ACG		PASS	0.572	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			49	260	49	260	---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56489459	56489459	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:56489459C>G	ENST00000267101.3	+	17	2364	c.1924C>G	c.(1924-1926)Ctg>Gtg	p.L642V	ERBB3_ENST00000415288.2_Missense_Mutation_p.L583V|ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000450146.2_5'UTR	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	642					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.L642V(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAAAACCCATCTGACAATGGC	0.433																																						uc001sjh.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(1924-1926)CTG>GTG		erbB-3 isoform 1 precursor							126.0	116.0	119.0					12																	56489459		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56489459C>G	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1924C>G	12.37:g.56489459C>G	ENSP00000267101:p.Leu642Val					ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Translation_Start_Site|ERBB3_uc010sqc.1_Missense_Mutation_p.L583V|ERBB3_uc009zok.2_Missense_Mutation_p.L84V|ERBB3_uc001sjk.2_5'Flank	p.L642V	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		17	2117	+			642			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.1924C>G	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	8.795	0.931553	0.18131	.	.	ENSG00000065361	ENST00000267101;ENST00000415288	T;T	0.78126	-1.15;-1.14	5.1	2.17	0.27698	.	0.946865	0.08762	N	0.897593	T	0.54367	0.1854	N	0.19112	0.55	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.53732	-0.8397	10	0.02654	T	1	.	1.6237	0.02719	0.159:0.4786:0.1734:0.1889	.	583;642	P21860-4;P21860	.;ERBB3_HUMAN	V	642;583	ENSP00000267101:L642V;ENSP00000408340:L583V	ENSP00000267101:L642V	L	+	1	2	ERBB3	54775726	0.863000	0.29885	0.994000	0.49952	0.994000	0.84299	1.038000	0.30254	0.744000	0.32741	0.655000	0.94253	CTG		PASS	0.433	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			53	216	53	216	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57588394	57588394	+	Silent	SNP	C	C	T	rs368477109		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:57588394C>T	ENST00000243077.3	+	50	8569	c.8103C>T	c.(8101-8103)ttC>ttT	p.F2701F	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2701	LDL-receptor class A 15. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.F2701F(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAATTACTTCGCCTGCCCTA	0.632													c|||	1	0.000199681	0.0	0.0	5008	,	,		18397	0.0		0.0	False		,,,				2504	0.001					uc001snd.2																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(8101-8103)TTC>TTT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)			0,4406		0,0,2203	63.0	63.0	63.0		8103	-1.1	1.0	12		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1	NM_002332.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2701/4545	57588394	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57588394C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8103C>T	12.37:g.57588394C>T							p.F2701F	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	50	8569	+			2701			LDL-receptor class A 15.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.8103C>T	CCDS8932.1																																																																																				PASS	0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		31	179	31	179	---	---	---	---
CTDSP2	10106	broad.mit.edu	37	12	58223277	58223277	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:58223277G>C	ENST00000398073.2	-	2	470	c.167C>G	c.(166-168)tCc>tGc	p.S56C	CTDSP2_ENST00000547701.1_5'UTR|CTDSP2_ENST00000548823.1_Intron	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	56					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.S56C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GAGCTCAGTGGAGGAACTTGA	0.522																																						uc001sqm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(166-168)TCC>TGC		nuclear LIM interactor-interacting factor 2							185.0	184.0	184.0					12																	58223277		2054	4193	6247	SO:0001583	missense	10106				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding	g.chr12:58223277G>C	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	17077	protein-coding gene	gene with protein product	"""conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""NLI-interacting factor 2"", ""small CTD phosphatase 2"""	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.167C>G	12.37:g.58223277G>C	ENSP00000381148:p.Ser56Cys					CTDSP2_uc009zqf.2_5'UTR|CTDSP2_uc009zqg.2_Intron	p.S56C	NM_005730	NP_005721	O14595	CTDS2_HUMAN			2	696	-	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)		56					A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	c.167C>G	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543170	0.27563	.	.	ENSG00000175215	ENST00000398073	T	0.18960	2.18	4.98	-2.57	0.06248	.	0.748955	0.12905	N	0.429439	T	0.25754	0.0627	L	0.42245	1.32	0.24883	N	0.992214	P	0.44521	0.837	P	0.45099	0.469	T	0.44360	-0.9333	10	0.56958	D	0.05	-3.2522	21.6353	0.99958	0.0:0.7074:0.2926:0.0	.	56	O14595	CTDS2_HUMAN	C	56	ENSP00000381148:S56C	ENSP00000381148:S56C	S	-	2	0	CTDSP2	56509544	0.024000	0.19004	0.716000	0.30569	0.949000	0.60115	-0.110000	0.10824	-0.290000	0.09025	-0.176000	0.13171	TCC		PASS	0.522	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		79	442	79	442	---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64436626	64436626	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:64436626G>A	ENST00000355086.3	+	5	1070	c.546G>A	c.(544-546)ctG>ctA	p.L182L	SRGAP1_ENST00000357825.3_Silent_p.L182L|SRGAP1_ENST00000543397.1_Silent_p.L142L|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	182	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.L182L(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGAGCAAGCTGAAAGAGGCCG	0.438																																						uc010ssp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(544-546)CTG>CTA		SLIT-ROBO Rho GTPase activating protein 1							95.0	88.0	90.0					12																	64436626		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64436626G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.546G>A	12.37:g.64436626G>A						SRGAP1_uc001srt.2_Silent_p.L182L|SRGAP1_uc001srv.2_Silent_p.L142L	p.L182L	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	5	602	+			182					Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.546G>A	CCDS8967.1																																																																																				PASS	0.438	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			6	115	6	115	---	---	---	---
IRAK3	11213	broad.mit.edu	37	12	66641781	66641781	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:66641781G>A	ENST00000261233.4	+	12	2042	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	IRAK3_ENST00000457197.2_Missense_Mutation_p.E480K	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.E541K(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTCTTGTGAAGAAAGTTGGTT	0.443																																						uc001sth.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(1621-1623)GAA>AAA		interleukin-1 receptor-associated kinase 3							135.0	144.0	141.0					12																	66641781		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66641781G>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1621G>A	12.37:g.66641781G>A	ENSP00000261233:p.Glu541Lys					IRAK3_uc010ssy.1_Missense_Mutation_p.E480K	p.E541K	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	12	1723	+			541						Missense_Mutation	SNP	ENST00000261233.4	37	c.1621G>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213283	0.39102	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.74632	-0.83;-0.86	5.67	3.86	0.44501	.	0.654924	0.15453	N	0.261526	T	0.54983	0.1892	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.003	T	0.37820	-0.9689	9	.	.	.	-3.8118	8.9875	0.36003	0.1704:0.0:0.8296:0.0	.	480;541	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	K	541;480	ENSP00000261233:E541K;ENSP00000409852:E480K	.	E	+	1	0	IRAK3	64928048	0.020000	0.18652	0.003000	0.11579	0.104000	0.19210	1.657000	0.37366	0.758000	0.33059	0.561000	0.74099	GAA		PASS	0.443	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			19	384	19	384	---	---	---	---
MDM1	56890	broad.mit.edu	37	12	68719288	68719288	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:68719288G>C	ENST00000303145.7	-	4	652	c.566C>G	c.(565-567)tCt>tGt	p.S189C	MDM1_ENST00000411698.2_Intron|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000430606.2_3'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	189					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)		p.S189F(1)|p.S189C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTGATATTCAGAATTTCTCAA	0.368																																						uc001stz.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(3)|skin(2)	5						c.(565-567)TCT>TGT		mouse Mdm1 nuclear protein homolog isoform 1							146.0	157.0	153.0					12																	68719288		2203	4299	6502	SO:0001583	missense	56890					nucleus		g.chr12:68719288G>C	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.566C>G	12.37:g.68719288G>C	ENSP00000302537:p.Ser189Cys					MDM1_uc010stc.1_Intron|MDM1_uc009zqv.1_5'UTR|MDM1_uc001sua.3_3'UTR|MDM1_uc010std.1_3'UTR	p.S189C	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	4	702	-			189					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.566C>G	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201189	0.79015	.	.	ENSG00000111554	ENST00000303145;ENST00000541686	T;T	0.34859	1.34;1.34	5.29	5.29	0.74685	.	0.060978	0.64402	D	0.000002	T	0.63498	0.2516	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63967	-0.6517	9	.	.	.	-14.4411	19.3236	0.94252	0.0:0.0:1.0:0.0	.	189	Q8TC05	MDM1_HUMAN	C	189;184	ENSP00000302537:S189C;ENSP00000446000:S184C	.	S	-	2	0	MDM1	67005555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.726000	0.74758	2.654000	0.90174	0.561000	0.74099	TCT		PASS	0.368	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		56	302	56	302	---	---	---	---
KCNMB4	27345	broad.mit.edu	37	12	70794109	70794109	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:70794109C>T	ENST00000258111.4	+	2	916	c.457C>T	c.(457-459)Cat>Tat	p.H153Y		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	153					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)	p.H153Y(1)		kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	TTTTAATCAACATCAAAGGTA	0.358																																						uc001svx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)CAT>TAT		calcium-activated potassium channel beta 4							184.0	176.0	179.0					12																	70794109		2202	4300	6502	SO:0001583	missense	27345				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding	g.chr12:70794109C>T	AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.457C>T	12.37:g.70794109C>T	ENSP00000258111:p.His153Tyr						p.H153Y	NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		2	910	+	Renal(347;0.236)		153			Extracellular (Potential).		Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	ENST00000258111.4	37	c.457C>T	CCDS8997.1	.	.	.	.	.	.	.	.	.	.	C	9.367	1.069503	0.20147	.	.	ENSG00000135643	ENST00000258111	T	0.09630	2.96	5.83	-0.913	0.10500	.	0.451256	0.21503	N	0.073489	T	0.04952	0.0133	N	0.16478	0.41	0.37002	D	0.895338	B	0.02656	0.0	B	0.04013	0.001	T	0.47573	-0.9107	10	0.02654	T	1	-0.1831	11.3516	0.49592	0.0:0.5635:0.0:0.4365	.	153	Q86W47	KCMB4_HUMAN	Y	153	ENSP00000258111:H153Y	ENSP00000258111:H153Y	H	+	1	0	KCNMB4	69080376	1.000000	0.71417	0.980000	0.43619	0.967000	0.64934	1.322000	0.33689	-0.390000	0.07774	-0.345000	0.07892	CAT		PASS	0.358	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395208.1	NM_014505		42	263	42	263	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71155346	71155346	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:71155346C>G	ENST00000283228.2	-	4	984	c.532G>C	c.(532-534)Gat>Cat	p.D178H	PTPRR_ENST00000342084.4_Missense_Mutation_p.D66H	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	178					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D178H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GGCAGAGCATCAGAAATTCCT	0.353																																						uc001swi.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(532-534)GAT>CAT		protein tyrosine phosphatase, receptor type, R							136.0	133.0	134.0					12																	71155346		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71155346C>G	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.532G>C	12.37:g.71155346C>G	ENSP00000283228:p.Asp178His					PTPRR_uc010stq.1_Missense_Mutation_p.D66H	p.D178H	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	4	948	-			178			Extracellular (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.532G>C	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715219	0.48622	.	.	ENSG00000153233	ENST00000283228;ENST00000342084	T;T	0.33216	1.42;1.42	5.48	4.57	0.56435	.	0.423586	0.19369	U	0.115951	T	0.26376	0.0644	N	0.14661	0.345	0.80722	D	1	B;B	0.30146	0.27;0.177	B;B	0.37692	0.256;0.131	T	0.17806	-1.0357	10	0.87932	D	0	-5.7571	15.8593	0.79009	0.0:0.8594:0.1406:0.0	.	66;178	F5GXR7;Q15256	.;PTPRR_HUMAN	H	178;66	ENSP00000283228:D178H;ENSP00000339605:D66H	ENSP00000283228:D178H	D	-	1	0	PTPRR	69441613	0.996000	0.38824	0.019000	0.16419	0.994000	0.84299	3.686000	0.54685	1.273000	0.44346	0.448000	0.29417	GAT		PASS	0.353	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		38	244	38	244	---	---	---	---
GLIPR1L2	144321	broad.mit.edu	37	12	75804346	75804346	+	Missense_Mutation	SNP	G	G	A	rs567529302		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:75804346G>A	ENST00000550916.1	+	2	414	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.G16S|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.G123S|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.G123S|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.G123S|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.G58S	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	123	SCP.					integral component of membrane (GO:0016021)		p.G123S(2)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TATGTGGGTCGGCCCTGAAAA	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		14212	0.001		0.0	False		,,,				2504	0.0					uc001sxr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(367-369)GGC>AGC		GLI pathogenesis-related 1 like 2							84.0	85.0	85.0					12																	75804346		2203	4299	6502	SO:0001583	missense	144321					integral to membrane		g.chr12:75804346G>A	BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.367G>A	12.37:g.75804346G>A	ENSP00000448248:p.Gly123Ser					GLIPR1L2_uc001sxp.1_Missense_Mutation_p.G123S|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.G16S	p.G123S	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN			2	375	+			123					Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	c.367G>A	CCDS58258.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109852	0.77096	.	.	ENSG00000180481	ENST00000550916;ENST00000435775;ENST00000378692;ENST00000320460;ENST00000547164;ENST00000441218	T;T;T;T;T;T	0.06933	3.24;3.24;3.24;3.24;3.24;3.24	4.91	4.91	0.64330	CAP domain (3);	0.132588	0.49305	D	0.000155	T	0.15565	0.0375	N	0.21448	0.665	0.33790	D	0.625369	D;D	0.89917	1.0;0.983	D;P	0.97110	1.0;0.688	T	0.18335	-1.0340	10	0.21014	T	0.42	.	15.1142	0.72388	0.0:0.0:1.0:0.0	.	123;123	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	S	123;123;16;123;123;58	ENSP00000448248:G123S;ENSP00000398328:G123S;ENSP00000367963:G16S;ENSP00000317385:G123S;ENSP00000447980:G123S;ENSP00000405273:G58S	ENSP00000317385:G123S	G	+	1	0	GLIPR1L2	74090613	0.994000	0.37717	0.998000	0.56505	0.955000	0.61496	4.395000	0.59678	2.538000	0.85594	0.484000	0.47621	GGC		PASS	0.353	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		42	102	42	102	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400273	78400273	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:78400273C>T	ENST00000397909.2	+	8	1128	c.955C>T	c.(955-957)Cct>Tct	p.P319S	NAV3_ENST00000228327.6_Missense_Mutation_p.P319S|NAV3_ENST00000536525.2_Missense_Mutation_p.P319S|NAV3_ENST00000266692.7_Missense_Mutation_p.P319S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	319						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.P319S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGGCAGCCTCCTGCCTCTGC	0.507										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(955-957)CCT>TCT		neuron navigator 3							56.0	59.0	58.0					12																	78400273		2073	4211	6284	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400273C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.955C>T	12.37:g.78400273C>T	ENSP00000381007:p.Pro319Ser	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.P319S	p.P319S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1128	+			319					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.955C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.437|9.437	1.087018|1.087018	0.20390|0.20390	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000550503	T;T;T;T;T|.	0.39056|.	1.1;1.1;1.1;1.1;1.1|.	5.4|5.4	4.5|4.5	0.54988|0.54988	.|.	0.197484|.	0.24695|.	U|.	0.036352|.	T|T	0.34919|0.34919	0.0914|0.0914	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.24823|.	0.112;0.034|.	B;B|.	0.19391|.	0.024;0.025|.	T|T	0.14839|0.14839	-1.0458|-1.0458	10|5	0.02654|.	T|.	1|.	-5.8726|-5.8726	11.2195|11.2195	0.48846|0.48846	0.1435:0.7184:0.1381:0.0|0.1435:0.7184:0.1381:0.0	.|.	319;319|.	Q8IVL0;Q8IVL0-2|.	NAV3_HUMAN;.|.	S|F	319|142	ENSP00000446628:P319S;ENSP00000446132:P319S;ENSP00000381007:P319S;ENSP00000228327:P319S;ENSP00000266692:P319S|.	ENSP00000228327:P319S|.	P|S	+|+	1|2	0|0	NAV3|NAV3	76924404|76924404	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.390000|0.390000	0.30446|0.30446	4.759000|4.759000	0.62227|0.62227	1.262000|1.262000	0.44165|0.44165	-0.310000|-0.310000	0.09108|0.09108	CCT|TCC		PASS	0.507	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		16	90	16	90	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81675160	81675160	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:81675160G>C	ENST00000549396.1	-	27	3248	c.3088C>G	c.(3088-3090)Ccc>Gcc	p.P1030A	RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000443686.3_Missense_Mutation_p.P925A|PPFIA2_ENST00000333447.7_Missense_Mutation_p.P1015A|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.P1015A|PPFIA2_ENST00000550359.2_Missense_Mutation_p.P877A|PPFIA2_ENST00000407050.4_Missense_Mutation_p.P929A|PPFIA2_ENST00000550584.2_Missense_Mutation_p.P1030A|PPFIA2_ENST00000541570.2_Missense_Mutation_p.P566A|PPFIA2_ENST00000541017.1_Missense_Mutation_p.P216A|PPFIA2_ENST00000552948.1_Missense_Mutation_p.P1009A|PPFIA2_ENST00000548586.1_Missense_Mutation_p.P1024A	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1030	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.P1030A(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCCAAGCTGGGAAGCCATTCA	0.393																																						uc001szo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(3088-3090)CCC>GCC		PTPRF interacting protein alpha 2							118.0	113.0	115.0					12																	81675160		1844	4123	5967	SO:0001583	missense	8499							g.chr12:81675160G>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3088C>G	12.37:g.81675160G>C	ENSP00000450337:p.Pro1030Ala					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.P1030A	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			27	3249	-			929					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.3088C>G	CCDS55857.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.75|18.75|18.75	3.689849|3.689849|3.689849	0.68271|0.68271|0.68271	.|.|.	.|.|.	ENSG00000139220|ENSG00000139220|ENSG00000139220	ENST00000550018|ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000551147	.|T;T;T;T;T;T;T;T;T|.	.|0.48836|.	.|0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8|.	5.51|5.51|5.51	5.51|5.51|5.51	0.81932|0.81932|0.81932	.|Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.84061|0.84061|0.84061	0.5389|0.5389|0.5389	M|M|M	0.86573|0.86573|0.86573	2.825|2.825|2.825	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.71674|.	.|0.998|.	.|D|.	.|0.71656|.	.|0.974|.	D|D|D	0.85192|0.85192|0.85192	0.1010|0.1010|0.1010	5|10|5	.|0.54805|.	.|T|.	.|0.06|.	-13.8596|-13.8596|-13.8596	19.7721|19.7721|19.7721	0.96370|0.96370|0.96370	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|1030|.	.|O75334|.	.|LIPA2_HUMAN|.	L|A|C	132|1030;1015;566;216;929;1041;1015;1024;925;1009|174	.|ENSP00000450337:P1030A;ENSP00000450298:P1015A;ENSP00000438337:P566A;ENSP00000445532:P216A;ENSP00000385093:P929A;ENSP00000327416:P1015A;ENSP00000449338:P1024A;ENSP00000388373:P925A;ENSP00000447868:P1009A|.	.|ENSP00000327416:P1015A|.	F|P|S	-|-|-	3|1|2	2|0|0	PPFIA2|PPFIA2|PPFIA2	80199291|80199291|80199291	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	9.743000|9.743000|9.743000	0.98849|0.98849|0.98849	2.751000|2.751000|2.751000	0.94390|0.94390|0.94390	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	TTC|CCC|TCC		PASS	0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			6	151	6	151	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100452393	100452393	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:100452393C>T	ENST00000279907.7	-	14	2874	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.E538K	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	888								p.E888K(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTCACACTTTCAGAAACAGGA	0.363																																						uc001tgq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2662-2664)GAA>AAA		UHRF1 (ICBP90) binding protein 1-like isoform a							51.0	53.0	52.0					12																	100452393		2203	4299	6502	SO:0001583	missense	23074							g.chr12:100452393C>T		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2662G>A	12.37:g.100452393C>T	ENSP00000279907:p.Glu888Lys					UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.E538K	p.E888K	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			14	2891	-			888					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.2662G>A	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731978	0.30684	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.16897	2.31;2.31	6.02	5.11	0.69529	.	0.440837	0.27016	N	0.021353	T	0.20047	0.0482	L	0.57536	1.79	0.80722	D	1	B	0.29835	0.258	B	0.30029	0.11	T	0.02232	-1.1191	10	0.72032	D	0.01	-12.4198	12.0576	0.53544	0.1361:0.7329:0.1309:0.0	.	888	A0JNW5	UH1BL_HUMAN	K	888;538	ENSP00000279907:E888K;ENSP00000444824:E538K	ENSP00000279907:E888K	E	-	1	0	UHRF1BP1L	98976524	1.000000	0.71417	0.999000	0.59377	0.654000	0.38779	2.294000	0.43567	1.506000	0.48736	0.650000	0.86243	GAA		PASS	0.363	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		13	144	13	144	---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100732771	100732772	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:100732771_100732772CC>AT	ENST00000360820.2	+	18	3048_3049	c.2611_2612CC>AT	c.(2611-2613)CCt>ATt	p.P871I		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	871	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.P875I(1)|p.P875T(1)|p.P875L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GTTTGTACCTCCTCAAGGTTCT	0.431																																						uc001thn.2																			3	Substitution - Missense(3)		lung(3)	lung(3)|ovary(2)|skin(1)	6						c.(2611-2613)CCT>ACT|c.(2611-2613)CCT>CTT		SCY1-like 2 protein																																				SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100732771C>A|g.chr12:100732772C>T	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	Exception_encountered	12.37:g.100732771_100732772delinsAT	ENSP00000354061:p.Pro871Ile						p.P871T|p.P871L	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			18	2661|2662	+			871			Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.2611C>A|c.2612C>T	CCDS9076.1																																																																																				PASS	0.431	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		26|24	439|434	24	434	---	---	---	---
NR1H4	9971	broad.mit.edu	37	12	100897181	100897181	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:100897181C>T	ENST00000551379.1	+	1	44	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	NR1H4_ENST00000188403.7_Nonsense_Mutation_p.Q6*|NR1H4_ENST00000549996.1_Intron|NR1H4_ENST00000546380.1_Intron|NR1H4_ENST00000392986.3_Intron|NR1H4_ENST00000548884.1_Intron			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	6					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Q6*(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	AATGCAGTTTCAGGGGTTAGA	0.428																																						uc001tht.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(16-18)CAG>TAG		nuclear receptor subfamily 1, group H, member 4							36.0	35.0	35.0					12																	100897181		876	1991	2867	SO:0001587	stop_gained	9971				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100897181C>T	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.16C>T	12.37:g.100897181C>T	ENSP00000447149:p.Gln6*					NR1H4_uc001thp.1_Intron|NR1H4_uc001thq.1_Intron|NR1H4_uc010svj.1_Intron|NR1H4_uc001thr.1_Intron|NR1H4_uc010svk.1_Intron|NR1H4_uc001ths.1_Nonsense_Mutation_p.Q6*	p.Q6*	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			1	44	+			6					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Nonsense_Mutation	SNP	ENST00000551379.1	37	c.16C>T	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	C	36	5.977008	0.97168	.	.	ENSG00000012504	ENST00000551379;ENST00000188403	.	.	.	5.75	5.75	0.90469	.	0.477443	0.25154	N	0.032730	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.0354	0.86473	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000188403:Q6X	Q	+	1	0	NR1H4	99421312	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.689000	0.46993	2.878000	0.98634	0.650000	0.86243	CAG		PASS	0.428	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		9	30	9	30	---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101587418	101587418	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:101587418C>A	ENST00000536262.2	-	5	1235	c.677G>T	c.(676-678)aGa>aTa	p.R226I		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.R226I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAAATTTAATCTTCCACCATC	0.353																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)AGA>ATA		solute carrier family 5 (iodide transporter),							125.0	123.0	124.0					12																	101587418		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101587418C>A	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.677G>T	12.37:g.101587418C>A	ENSP00000445340:p.Arg226Ile						p.R226I	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			5	1067	-			226			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.677G>T	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896585	0.91962	.	.	ENSG00000256870	ENST00000536262	D	0.87729	-2.29	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.95828	0.8642	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96880	0.9645	10	0.87932	D	0	.	19.2593	0.93961	0.0:1.0:0.0:0.0	.	226	Q8N695	SC5A8_HUMAN	I	226	ENSP00000445340:R226I	ENSP00000445340:R226I	R	-	2	0	SLC5A8	100111549	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.487000	0.81328	2.543000	0.85770	0.655000	0.94253	AGA		PASS	0.353	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		77	191	77	191	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101684541	101684541	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:101684541C>A	ENST00000261637.4	+	8	940	c.766C>A	c.(766-768)Cca>Aca	p.P256T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	256					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.P256T(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAAGCTAGGACCAGTCACTGA	0.373																																						uc001tia.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(766-768)CCA>ACA		down-regulated in metastasis							133.0	123.0	127.0					12																	101684541		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101684541C>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.766C>A	12.37:g.101684541C>A	ENSP00000261637:p.Pro256Thr					UTP20_uc009ztz.1_Missense_Mutation_p.P256T	p.P256T	NM_014503	NP_055318	O75691	UTP20_HUMAN			8	922	+			256					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.766C>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932446	0.52866	.	.	ENSG00000120800	ENST00000261637	T	0.19394	2.15	5.36	5.36	0.76844	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	M	0.71581	2.175	0.80722	D	1	D	0.63880	0.993	P	0.60117	0.869	T	0.13548	-1.0505	10	0.18710	T	0.47	-11.5294	19.0927	0.93233	0.0:1.0:0.0:0.0	.	256	O75691	UTP20_HUMAN	T	256	ENSP00000261637:P256T	ENSP00000261637:P256T	P	+	1	0	UTP20	100208672	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	6.748000	0.74877	2.510000	0.84645	0.650000	0.86243	CCA		PASS	0.373	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		16	144	16	144	---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101685877	101685877	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:101685877G>C	ENST00000261637.4	+	10	1342	c.1168G>C	c.(1168-1170)Gaa>Caa	p.E390Q		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	390					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.E390Q(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGAAACCATAGAAAAAGTAat	0.383																																						uc001tia.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(1168-1170)GAA>CAA		down-regulated in metastasis							87.0	86.0	87.0					12																	101685877		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101685877G>C	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.1168G>C	12.37:g.101685877G>C	ENSP00000261637:p.Glu390Gln						p.E390Q	NM_014503	NP_055318	O75691	UTP20_HUMAN			10	1324	+			390					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.1168G>C	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286952	0.23478	.	.	ENSG00000120800	ENST00000261637	T	0.64260	-0.09	5.91	4.09	0.47781	Armadillo-type fold (1);	0.152898	0.64402	N	0.000013	T	0.49830	0.1580	L	0.50919	1.6	0.31367	N	0.680684	B	0.02656	0.0	B	0.08055	0.003	T	0.48234	-0.9053	10	0.13470	T	0.59	-10.5286	7.8855	0.29648	0.1323:0.2497:0.618:0.0	.	390	O75691	UTP20_HUMAN	Q	390	ENSP00000261637:E390Q	ENSP00000261637:E390Q	E	+	1	0	UTP20	100210008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.434000	0.44802	0.833000	0.34828	0.655000	0.94253	GAA		PASS	0.383	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		7	195	7	195	---	---	---	---
MYBPC1	4604	broad.mit.edu	37	12	101988866	101988866	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:101988866G>T	ENST00000550270.1	+	1	18	c.18G>T	c.(16-18)aaG>aaT	p.K6N	MYBPC1_ENST00000360610.2_Missense_Mutation_p.K6N|MYBPC1_ENST00000361685.2_Missense_Mutation_p.K6N|MYBPC1_ENST00000441232.1_Missense_Mutation_p.K6N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.K6N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.K6N|MYBPC1_ENST00000536007.1_Missense_Mutation_p.K6N|MYBPC1_ENST00000361466.2_Missense_Mutation_p.K6N|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000392934.3_Missense_Mutation_p.K6N|MYBPC1_ENST00000547509.1_Missense_Mutation_p.K6N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.K6N|MYBPC1_ENST00000549145.1_Missense_Mutation_p.K6N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.K6N|MYBPC1_ENST00000550501.1_3'UTR|MYBPC1_ENST00000545503.2_Missense_Mutation_p.K6N			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	6					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.K6N(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AACCCACTAAGAAAGAGGGTA	0.373																																						uc001tii.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(16-18)AAG>AAT		myosin binding protein C, slow type isoform 3							111.0	108.0	109.0					12																	101988866		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:101988866G>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.18G>T	12.37:g.101988866G>T	ENSP00000449702:p.Lys6Asn					MYBPC1_uc001tif.1_Missense_Mutation_p.K6N|MYBPC1_uc001tig.2_Missense_Mutation_p.K6N|MYBPC1_uc010svq.1_Missense_Mutation_p.K6N|MYBPC1_uc001tih.2_Missense_Mutation_p.K6N|MYBPC1_uc001tij.2_Missense_Mutation_p.K6N|MYBPC1_uc010svr.1_Missense_Mutation_p.K6N|MYBPC1_uc010svs.1_Missense_Mutation_p.K6N|MYBPC1_uc010svt.1_Missense_Mutation_p.K6N|MYBPC1_uc010svu.1_Missense_Mutation_p.K6N|MYBPC1_uc001tik.2_Missense_Mutation_p.K6N	p.K6N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			1	120	+			6					B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.18G>T	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746216	0.49257	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61627	0.32;0.13;0.12;0.13;0.26;0.26;0.21;0.27;0.14;0.12;0.09;0.33;0.19;0.13	5.87	4.99	0.66335	.	0.000000	0.49305	D	0.000150	T	0.44603	0.1301	N	0.08118	0	0.42567	D	0.993161	P;P;P;P;P;B;P;P;P;P;P	0.49559	0.799;0.799;0.877;0.799;0.678;0.357;0.873;0.799;0.925;0.873;0.51	B;B;P;B;P;B;B;B;P;B;B	0.49752	0.214;0.214;0.494;0.214;0.455;0.174;0.385;0.214;0.621;0.385;0.264	T	0.53027	-0.8496	10	0.72032	D	0.01	.	9.5985	0.39589	0.2089:0.0:0.7911:0.0	.	6;6;6;6;6;6;6;6;6;6;6	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	N	6	ENSP00000448175:K6N;ENSP00000400908:K6N;ENSP00000388989:K6N;ENSP00000353822:K6N;ENSP00000376665:K6N;ENSP00000447362:K6N;ENSP00000354845:K6N;ENSP00000447660:K6N;ENSP00000447900:K6N;ENSP00000440034:K6N;ENSP00000446128:K6N;ENSP00000442847:K6N;ENSP00000354849:K6N;ENSP00000449702:K6N	ENSP00000353822:K6N	K	+	3	2	MYBPC1	100512997	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.554000	0.45845	1.627000	0.50400	0.655000	0.94253	AAG		PASS	0.373	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			7	78	7	78	---	---	---	---
C12orf42	374470	broad.mit.edu	37	12	103695942	103695942	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:103695942G>A	ENST00000378113.2	-	6	1252	c.1027C>T	c.(1027-1029)Cat>Tat	p.H343Y	C12orf42_ENST00000548048.1_Missense_Mutation_p.H276Y|C12orf42_ENST00000548883.1_Missense_Mutation_p.H343Y|C12orf42_ENST00000315192.8_Intron	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	343								p.H343Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CAAACCGTATGGAAACGCCGG	0.572																																						uc001tjt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1027-1029)CAT>TAT		hypothetical protein LOC374470							54.0	61.0	59.0					12																	103695942		1838	4079	5917	SO:0001583	missense	374470							g.chr12:103695942G>A	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.1027C>T	12.37:g.103695942G>A	ENSP00000367353:p.His343Tyr					C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.H343Y|C12orf42_uc001tju.2_Missense_Mutation_p.H248Y	p.H343Y	NM_198521	NP_940923	Q96LP6	CL042_HUMAN			6	1115	-			343					Q49A64|Q4G0S2	Missense_Mutation	SNP	ENST00000378113.2	37	c.1027C>T	CCDS44963.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047233	0.55110	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113	T;T;T	0.58652	0.32;0.32;0.32	5.06	5.06	0.68205	.	0.000000	0.39687	N	0.001295	T	0.68256	0.2981	L	0.34521	1.04	0.39926	D	0.974228	D	0.76494	0.999	D	0.80764	0.994	T	0.73512	-0.3959	10	0.87932	D	0	-14.5215	18.43	0.90622	0.0:0.0:1.0:0.0	.	343	Q96LP6	CL042_HUMAN	Y	343;276;343	ENSP00000447908:H343Y;ENSP00000449362:H276Y;ENSP00000367353:H343Y	ENSP00000367353:H343Y	H	-	1	0	C12orf42	102220072	1.000000	0.71417	0.996000	0.52242	0.228000	0.25075	6.600000	0.74132	2.333000	0.79357	0.655000	0.94253	CAT		PASS	0.572	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		58	165	58	165	---	---	---	---
TXNRD1	7296	broad.mit.edu	37	12	104721446	104721446	+	Silent	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:104721446C>G	ENST00000529546.1	+	10	1200	c.975C>G	c.(973-975)gtC>gtG	p.V325V	TXNRD1_ENST00000524698.1_Silent_p.V363V|TXNRD1_ENST00000525566.1_Silent_p.V513V|TXNRD1_ENST00000540716.1_Silent_p.V325V|TXNRD1_ENST00000378070.4_Silent_p.V462V|TXNRD1_ENST00000526691.1_Silent_p.V415V|TXNRD1_ENST00000503506.2_Silent_p.V363V|TXNRD1_ENST00000397736.2_Silent_p.V407V|TXNRD1_ENST00000526950.1_Silent_p.V432V|TXNRD1_ENST00000427956.1_Silent_p.V478V|TXNRD1_ENST00000388854.3_Silent_p.V415V|TXNRD1_ENST00000429002.2_Silent_p.V513V|TXNRD1_ENST00000526390.1_Silent_p.V407V|TXNRD1_ENST00000542918.1_Silent_p.V413V|TXNRD1_ENST00000354940.6_Silent_p.V363V			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	513					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.V513V(1)|p.V363V(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GTTCCACTGTCAAGGTGAGTG	0.478																																					Ovarian(139;555 1836 9186 9946 10884)	uc010swk.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1537-1539)GTC>GTG		thioredoxin reductase 1 isoform 3							87.0	84.0	85.0					12																	104721446		1989	4173	6162	SO:0001819	synonymous_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104721446C>G		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.975C>G	12.37:g.104721446C>G						TXNRD1_uc010swl.1_Silent_p.V363V|TXNRD1_uc010swm.1_Silent_p.V415V|TXNRD1_uc010swn.1_Silent_p.V363V|TXNRD1_uc010swo.1_Silent_p.V363V|TXNRD1_uc010swp.1_Silent_p.V325V|TXNRD1_uc010swq.1_Silent_p.V413V|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Silent_p.V429V	p.V513V	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN			13	1561	+			513					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	ENST00000529546.1	37	c.1539C>G	CCDS58274.1																																																																																				PASS	0.478	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		13	85	13	85	---	---	---	---
RIC8B	55188	broad.mit.edu	37	12	107236590	107236590	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:107236590G>C	ENST00000392839.2	+	5	1166	c.1060G>C	c.(1060-1062)Gac>Cac	p.D354H	RIC8B_ENST00000392837.4_Missense_Mutation_p.D354H|RIC8B_ENST00000355478.2_Missense_Mutation_p.D314H|RIC8B_ENST00000549643.1_Intron	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	354					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.D354H(1)		kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GAAGAGAATAGACAAGGTAAG	0.358																																						uc001tlx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1060-1062)GAC>CAC		resistance to inhibitors of cholinesterase 8							65.0	64.0	64.0					12																	107236590		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107236590G>C	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.1060G>C	12.37:g.107236590G>C	ENSP00000376583:p.Asp354His					RIC8B_uc001tlw.2_Missense_Mutation_p.D354H|RIC8B_uc001tly.2_Missense_Mutation_p.D314H|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA	p.D354H	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN			5	1185	+			354					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.1060G>C	CCDS9109.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.486758|3.486758	0.63962|0.63962	.|.	.|.	ENSG00000111785|ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478|ENST00000548914	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69771|.	0.3148|.	L|L	0.48174|0.48174	1.505|1.505	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.999;1.0|.	T|.	0.65401|.	-0.6177|.	9|.	0.21014|.	T|.	0.42|.	-7.8918|-7.8918	19.4137|19.4137	0.94687|0.94687	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	314;354;354|.	Q9NVN3-3;Q9NVN3;B7WPL0|.	.;RIC8B_HUMAN;.|.	H|Y	354;354;314|178	.|.	ENSP00000347662:D314H|.	D|X	+|+	1|3	0|2	RIC8B|RIC8B	105760720|105760720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	2.597000|2.597000	0.87782|0.87782	0.655000|0.655000	0.94253|0.94253	GAC|TAG		PASS	0.358	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		9	86	9	86	---	---	---	---
RPH3A	22895	broad.mit.edu	37	12	113314523	113314523	+	Silent	SNP	A	A	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:113314523A>G	ENST00000389385.4	+	13	1520	c.1023A>G	c.(1021-1023)gcA>gcG	p.A341A	RPH3A_ENST00000543106.2_Silent_p.A341A|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Silent_p.A337A|RPH3A_ENST00000415485.3_Silent_p.A341A|RPH3A_ENST00000548866.1_Silent_p.A292A|RPH3A_ENST00000447659.2_Silent_p.A292A|RPH3A_ENST00000420983.2_Silent_p.A341A	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	341	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.A337A(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCTACCCAGCAGTTGGAGCCA	0.667																																						uc010syl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1021-1023)GCA>GCG		rabphilin 3A homolog isoform 1							48.0	46.0	46.0					12																	113314523		2203	4300	6503	SO:0001819	synonymous_variant	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113314523A>G	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1023A>G	12.37:g.113314523A>G						RPH3A_uc001ttz.2_Silent_p.A341A|RPH3A_uc001tty.2_Silent_p.A337A|RPH3A_uc009zwe.1_Silent_p.A337A|RPH3A_uc010sym.1_Silent_p.A292A|RPH3A_uc001tua.2_Silent_p.A101A	p.A341A	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	13	1385	+			341			Pro-rich.		B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	37	c.1023A>G	CCDS44979.1																																																																																				PASS	0.667	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		26	111	26	111	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114841587	114841587	+	Silent	SNP	C	C	T	rs149030937		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:114841587C>T	ENST00000310346.4	-	2	783	c.117G>A	c.(115-117)ccG>ccA	p.P39P	TBX5_ENST00000349716.5_Intron|TBX5_ENST00000526441.1_Silent_p.P39P|TBX5_ENST00000405440.2_Silent_p.P39P|TBX5_ENST00000552726.1_5'UTR	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	39				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P39P(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCGGGGACGACGGGGACTTGC	0.647																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|pancreas(1)|skin(1)	8						c.(115-117)CCG>CCA		T-box 5 isoform 1		C	,,,	1,4401		0,1,2200	39.0	49.0	46.0		117,,117,117	-2.5	0.3	12	dbSNP_134	46	0,8594		0,0,4297	no	coding-synonymous,intron,coding-synonymous,coding-synonymous	TBX5	NM_000192.3,NM_080717.2,NM_080718.1,NM_181486.1	,,,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,,,	39/519,,39/350,39/519	114841587	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114841587C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.117G>A	12.37:g.114841587C>T						TBX5_uc001tvp.2_Silent_p.P39P|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Silent_p.P39P	p.P39P	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	2	612	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		39	GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592).				A6ND77|O15301|Q96TB0|Q9Y4I2	Silent	SNP	ENST00000310346.4	37	c.117G>A	CCDS9173.1																																																																																				PASS	0.647	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		32	168	32	168	---	---	---	---
FBXO21	23014	broad.mit.edu	37	12	117595836	117595836	+	Silent	SNP	T	T	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:117595836T>A	ENST00000330622.5	-	10	1379	c.1380A>T	c.(1378-1380)ctA>ctT	p.L460L	FBXO21_ENST00000427718.2_Silent_p.L453L			O94952	FBX21_HUMAN	F-box protein 21	460					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)	p.L460L(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GCCCCGGGTCTAGGGTTTGGA	0.527																																					GBM(168;452 2038 13535 17701 43680)	uc001twk.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(1378-1380)CTA>CTT		F-box only protein 21 isoform 1							175.0	174.0	174.0					12																	117595836		2203	4300	6503	SO:0001819	synonymous_variant	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117595836T>A	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1380A>T	12.37:g.117595836T>A						FBXO21_uc001twj.2_Silent_p.L453L|FBXO21_uc009zwq.2_Silent_p.L393L|FBXO21_uc001twl.1_Silent_p.L73L	p.L460L	NM_033624	NP_296373	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	10	1419	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		460					B3KMF0|Q5BJG0|Q9H087	Silent	SNP	ENST00000330622.5	37	c.1380A>T	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.578838	0.28180	.	.	ENSG00000135108	ENST00000550180	.	.	.	5.01	-6.44	0.01920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.7454	5.7501	0.18142	0.0961:0.4419:0.3464:0.1156	.	.	.	.	X	337	.	.	R	-	1	2	FBXO21	116080219	0.932000	0.31603	0.967000	0.41034	0.997000	0.91878	0.019000	0.13444	-0.885000	0.03971	0.528000	0.53228	AGA		PASS	0.527	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		239	548	239	548	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117963025	117963025	+	Splice_Site	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:117963025C>T	ENST00000339824.5	-	14	2579		c.e14-1		KSR2_ENST00000302438.5_Splice_Site|KSR2_ENST00000425217.1_Splice_Site|KSR2_ENST00000545002.1_Splice_Site			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2						intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCTTCATTCTGTGGCCGGA	0.612																																						uc001two.2																			2	Unknown(2)		lung(2)	lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.e14-1		kinase suppressor of ras 2							38.0	39.0	39.0					12																	117963025		2106	4230	6336	SO:0001630	splice_region_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117963025C>T	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1852-1G>A	12.37:g.117963025C>T							p.N589_splice	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			14	1820	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)							A0PJT2|Q3B828|Q8N775	Splice_Site	SNP	ENST00000339824.5	37	c.1765_splice		.	.	.	.	.	.	.	.	.	.	C	13.94	2.386955	0.42308	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6443	0.88145	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KSR2	116447408	1.000000	0.71417	0.961000	0.40146	0.204000	0.24138	7.651000	0.83577	2.481000	0.83766	0.650000	0.86243	.		PASS	0.612	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598	Intron	3	43	3	43	---	---	---	---
SCARB1	949	broad.mit.edu	37	12	125299563	125299563	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:125299563C>T	ENST00000415380.2	-	3	507	c.382G>A	c.(382-384)Ggc>Agc	p.G128S	SCARB1_ENST00000540495.1_Missense_Mutation_p.G91S|SCARB1_ENST00000339570.5_Missense_Mutation_p.G128S|SCARB1_ENST00000541205.1_Missense_Mutation_p.G87S|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Missense_Mutation_p.G74S|SCARB1_ENST00000261693.6_Missense_Mutation_p.G128S|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000546215.1_Missense_Mutation_p.G128S			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	128					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.G128S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CTCTCCGAGCCGTGGGACTTG	0.602																																						uc001ugo.3																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(382-384)GGC>AGC		scavenger receptor class B, member 1 isoform 1	Phosphatidylserine(DB00144)						296.0	217.0	244.0					12																	125299563		2203	4300	6503	SO:0001583	missense	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125299563C>T	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.382G>A	12.37:g.125299563C>T	ENSP00000414979:p.Gly128Ser					SCARB1_uc001ugn.3_Missense_Mutation_p.G128S|SCARB1_uc001ugm.3_Missense_Mutation_p.G128S|SCARB1_uc010tbd.1_Missense_Mutation_p.G128S|SCARB1_uc010tbe.1_Missense_Mutation_p.G87S|SCARB1_uc001ugp.3_Missense_Mutation_p.G128S	p.G128S	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	3	635	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		128			Extracellular (Potential).		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.382G>A		.	.	.	.	.	.	.	.	.	.	C	21.2	4.114392	0.77210	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495;ENST00000545493	T;T;T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	4.59	3.69	0.42338	.	0.100244	0.64402	N	0.000002	D	0.84642	0.5517	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D;P	0.63046	0.992;0.992;0.987;0.987;0.991;0.955	P;P;P;P;P;P	0.58013	0.828;0.723;0.831;0.831;0.602;0.469	D	0.86947	0.2083	10	0.87932	D	0	-18.8489	12.9957	0.58646	0.1627:0.8373:0.0:0.0	.	87;128;128;128;128;128	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	S	128;128;128;128;87;74;91;128	ENSP00000343795:G128S;ENSP00000414979:G128S;ENSP00000261693:G128S;ENSP00000442862:G128S;ENSP00000446107:G87S;ENSP00000444851:G74S;ENSP00000443286:G91S;ENSP00000443454:G128S	ENSP00000261693:G128S	G	-	1	0	SCARB1	123865516	1.000000	0.71417	0.016000	0.15963	0.397000	0.30659	7.006000	0.76329	0.895000	0.36342	0.491000	0.48974	GGC		PASS	0.602	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		30	92	30	92	---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125470744	125470744	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:125470744C>T	ENST00000308736.2	-	2	272	c.174G>A	c.(172-174)aaG>aaA	p.K58K		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	58							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.K58K(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGCTTTGGTCTTCTTTTTCT	0.483																																						uc001ugy.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(172-174)AAG>AAA		DEAH (Asp-Glu-Ala-His) box polypeptide 37							157.0	148.0	151.0					12																	125470744		2203	4300	6503	SO:0001819	synonymous_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125470744C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.174G>A	12.37:g.125470744C>T							p.K58K	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	2	273	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		58					Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.174G>A	CCDS9261.1																																																																																				PASS	0.483	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		17	364	17	364	---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133327418	133327418	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr12:133327418C>T	ENST00000357997.5	-	3	747	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	ANKLE2_ENST00000539605.1_Missense_Mutation_p.E158K|ANKLE2_ENST00000337516.5_Missense_Mutation_p.E220K	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	220					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.E220Q(1)|p.E220K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTTTTATTTTCATAAACATAG	0.413																																						uc001ukx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(658-660)GAA>AAA		ankyrin repeat and LEM domain containing 2							91.0	91.0	91.0					12																	133327418		1843	4079	5922	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133327418C>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.658G>A	12.37:g.133327418C>T	ENSP00000350686:p.Glu220Lys					ANKLE2_uc001uky.3_Missense_Mutation_p.E158K	p.E220K	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	3	725	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	220					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.658G>A	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	c	10.99	1.508439	0.27036	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.31769	1.9;1.88;1.48	5.72	5.72	0.89469	Ribonuclease H1, N-terminal (1);	0.213163	0.48286	D	0.000183	T	0.36853	0.0982	M	0.73598	2.24	0.32187	N	0.57961	P;P	0.37914	0.515;0.611	B;B	0.34991	0.156;0.193	T	0.47995	-0.9073	10	0.22109	T	0.4	-13.5556	19.8807	0.96899	0.0:1.0:0.0:0.0	.	220;220	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	K	158;220;220	ENSP00000446268:E158K;ENSP00000350686:E220K;ENSP00000337651:E220K	ENSP00000337651:E220K	E	-	1	0	ANKLE2	131837491	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	3.525000	0.53502	2.704000	0.92352	0.650000	0.86243	GAA		PASS	0.413	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			28	192	28	192	---	---	---	---
PARP4	143	broad.mit.edu	37	13	25008870	25008870	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr13:25008870G>A	ENST00000381989.3	-	31	4514	c.4409C>T	c.(4408-4410)tCt>tTt	p.S1470F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1470					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.S1470F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGCAGTCAAAGAGGCTGCGGA	0.493																																						uc001upl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(4408-4410)TCT>TTT		poly (ADP-ribose) polymerase family, member 4							25.0	29.0	27.0					13																	25008870		2202	4299	6501	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25008870G>A	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.4409C>T	13.37:g.25008870G>A	ENSP00000371419:p.Ser1470Phe						p.S1470F	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	31	4515	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	1470					O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.4409C>T	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	g	5.218	0.225659	0.09916	.	.	ENSG00000102699	ENST00000381989	T	0.01887	4.58	2.78	0.994	0.19832	.	2.710750	0.01935	U	0.041529	T	0.02047	0.0064	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47235	-0.9133	10	0.10111	T	0.7	2.7514	5.0775	0.14640	0.3009:0.0:0.6991:0.0	.	1470	Q9UKK3	PARP4_HUMAN	F	1470	ENSP00000371419:S1470F	ENSP00000371419:S1470F	S	-	2	0	PARP4	23906870	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.196000	0.09532	0.081000	0.16988	-0.369000	0.07265	TCT		PASS	0.493	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		8	48	8	48	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77636830	77636830	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr13:77636830G>A	ENST00000544440.2	-	74	12578	c.12561C>T	c.(12559-12561)ctC>ctT	p.L4187L	MYCBP2_ENST00000407578.2_Silent_p.L4225L|MYCBP2_ENST00000357337.6_Silent_p.L4187L					MYC binding protein 2, E3 ubiquitin protein ligase									p.L4187L(1)|p.L4225L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGCAAGCCAGAGCTGTTGAA	0.458																																						uc001vkf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(12559-12561)CTC>CTT		MYC binding protein 2							123.0	110.0	115.0					13																	77636830		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77636830G>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12561C>T	13.37:g.77636830G>A						MYCBP2_uc010aev.2_Silent_p.L3591L|MYCBP2_uc001vke.2_Silent_p.L804L	p.L4187L	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	75	12652	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4187						Silent	SNP	ENST00000544440.2	37	c.12561C>T																																																																																					PASS	0.458	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		6	89	6	89	---	---	---	---
NDFIP2	54602	broad.mit.edu	37	13	80117783	80117783	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr13:80117783G>T	ENST00000218652.7	+	5	858	c.806G>T	c.(805-807)gGc>gTc	p.G269V		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	269					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.G269V(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		TGCGGATTTGGCCTTTCCTTG	0.383																																						uc001vlf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(805-807)GGC>GTC		Nedd4 family interacting protein 2 isoform 1							287.0	247.0	260.0					13																	80117783		2203	4300	6503	SO:0001583	missense	54602				negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding	g.chr13:80117783G>T	AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.806G>T	13.37:g.80117783G>T	ENSP00000218652:p.Gly269Val					NDFIP2_uc010tib.1_Missense_Mutation_p.G249V|NDFIP2_uc001vlg.2_Intron	p.G269V	NM_019080	NP_061953	Q9NV92	NFIP2_HUMAN		GBM - Glioblastoma multiforme(99;0.0196)	5	886	+		Acute lymphoblastic leukemia(28;0.205)	269			Helical; (Potential).		Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	ENST00000218652.7	37	c.806G>T	CCDS31998.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875495	0.91664	.	.	ENSG00000102471	ENST00000218652;ENST00000487865	D;D	0.93859	-1.68;-3.3	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.96953	0.9005	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97108	0.9802	10	0.87932	D	0	-16.4779	19.8442	0.96702	0.0:0.0:1.0:0.0	.	155;269	B4DGY6;Q9NV92	.;NFIP2_HUMAN	V	269;166	ENSP00000218652:G269V;ENSP00000419200:G166V	ENSP00000218652:G269V	G	+	2	0	NDFIP2	79015784	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.337000	0.96545	2.681000	0.91329	0.650000	0.86243	GGC		PASS	0.383	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045380.2			58	150	58	150	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329220	88329220	+	Missense_Mutation	SNP	C	C	G	rs373350207		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr13:88329220C>G	ENST00000325089.6	+	2	1796	c.1577C>G	c.(1576-1578)tCt>tGt	p.S526C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S285C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	526					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.S526C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGCGTCTTCTCTGGCTTGACC	0.527																																						uc001vln.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1576-1578)TCT>TGT		SLIT and NTRK-like family, member 5 precursor							69.0	71.0	70.0					13																	88329220		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329220C>G	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1577C>G	13.37:g.88329220C>G	ENSP00000366283:p.Ser526Cys					SLITRK5_uc010tic.1_Missense_Mutation_p.S285C	p.S526C	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1796	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		526			Extracellular (Potential).|LRR 11.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1577C>G	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227282	0.58668	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59224	0.28;0.28	5.01	5.01	0.66863	.	0.136535	0.49916	D	0.000123	T	0.70736	0.3258	L	0.55481	1.735	0.58432	D	0.999997	D;P	0.71674	0.998;0.869	D;P	0.74674	0.984;0.707	T	0.70008	-0.4990	9	.	.	.	-7.2115	15.8004	0.78450	0.0:1.0:0.0:0.0	.	285;526	B4DSH5;O94991	.;SLIK5_HUMAN	C	526;285	ENSP00000366283:S526C;ENSP00000442244:S285C	.	S	+	2	0	SLITRK5	87127221	1.000000	0.71417	0.969000	0.41365	0.987000	0.75469	4.954000	0.63631	2.307000	0.77673	0.561000	0.74099	TCT		PASS	0.527	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			21	252	21	252	---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96592233	96592233	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr13:96592233G>C	ENST00000376747.3	-	16	1860	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	597					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.S597C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ATCATATTTAGAATGAATTCC	0.363																																						uc001vmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1789-1791)TCT>TGT		UDP-glucose ceramide glucosyltransferase-like 2							96.0	94.0	95.0					13																	96592233		2203	4299	6502	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96592233G>C	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1790C>G	13.37:g.96592233G>C	ENSP00000365938:p.Ser597Cys						p.S597C	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			16	1960	-			597					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.1790C>G	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643341	0.67244	.	.	ENSG00000102595	ENST00000376747	T	0.41065	1.01	5.64	5.64	0.86602	.	0.114918	0.64402	D	0.000008	T	0.71813	0.3384	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.77024	-0.2741	10	0.87932	D	0	-11.442	19.6855	0.95978	0.0:0.0:1.0:0.0	.	597	Q9NYU1	UGGG2_HUMAN	C	597	ENSP00000365938:S597C	ENSP00000365938:S597C	S	-	2	0	UGGT2	95390234	1.000000	0.71417	0.386000	0.26170	0.550000	0.35303	8.303000	0.89955	2.655000	0.90218	0.561000	0.74099	TCT		PASS	0.363	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		7	67	7	67	---	---	---	---
OXGR1	27199	broad.mit.edu	37	13	97639159	97639159	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr13:97639159G>A	ENST00000298440.1	-	4	1098	c.855C>T	c.(853-855)atC>atT	p.I285I	OXGR1_ENST00000543457.1_Silent_p.I285I	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	285					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I285I(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GTCTAGAAACGATGTAAGCTT	0.433																																						uc001vmx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(853-855)ATC>ATT		oxoglutarate (alpha-ketoglutarate) receptor 1							125.0	111.0	116.0					13																	97639159		2203	4300	6503	SO:0001819	synonymous_variant	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639159G>A	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.855C>T	13.37:g.97639159G>A						OXGR1_uc010afr.1_Silent_p.I285I	p.I285I	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	1099	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		285			Helical; Name=7; (Potential).		Q5T5A7|Q86TL1	Silent	SNP	ENST00000298440.1	37	c.855C>T	CCDS9482.1																																																																																				PASS	0.433	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		32	169	32	169	---	---	---	---
FARP1	10160	broad.mit.edu	37	13	99092981	99092981	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr13:99092981C>T	ENST00000319562.6	+	24	2952	c.2687C>T	c.(2686-2688)tCg>tTg	p.S896L	FARP1_ENST00000376586.2_Missense_Mutation_p.S927L|FARP1_ENST00000595437.1_Missense_Mutation_p.S927L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	896					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S896L(1)|p.S927L(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTGAGCGCCTCGCGCACATCG	0.627																																						uc001vnj.2																			2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(2686-2688)TCG>TTG		FERM, RhoGEF, and pleckstrin domain protein 1							47.0	45.0	46.0					13																	99092981		2203	4300	6503	SO:0001583	missense	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99092981C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2687C>T	13.37:g.99092981C>T	ENSP00000322926:p.Ser896Leu					FARP1_uc001vnh.2_Missense_Mutation_p.S927L	p.S896L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		24	3023	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		896					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.2687C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167442	0.57476	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.13196	2.61;2.61	5.53	5.53	0.82687	.	0.071538	0.64402	D	0.000017	T	0.16769	0.0403	L	0.28556	0.865	0.80722	D	1	D;B	0.59767	0.986;0.4	P;B	0.47251	0.542;0.155	T	0.00926	-1.1512	10	0.38643	T	0.18	.	19.4936	0.95062	0.0:1.0:0.0:0.0	.	896;927	Q9Y4F1;C9JME2	FARP1_HUMAN;.	L	927;896	ENSP00000365771:S927L;ENSP00000322926:S896L	ENSP00000322926:S896L	S	+	2	0	FARP1	97890982	0.998000	0.40836	0.931000	0.37212	0.526000	0.34562	4.041000	0.57339	2.605000	0.88082	0.655000	0.94253	TCG		PASS	0.627	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		8	160	8	160	---	---	---	---
TMCO3	55002	broad.mit.edu	37	13	114193756	114193756	+	Missense_Mutation	SNP	G	G	A	rs566169866	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr13:114193756G>A	ENST00000434316.2	+	10	1983	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	542						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.E542K(1)		NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CGTGGTCACCGAGGAGATCGC	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		15060	0.0		0.0	False		,,,				2504	0.002					uc001vtu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1624-1626)GAG>AAG		transmembrane and coiled-coil domains 3							106.0	91.0	96.0					13																	114193756		2203	4300	6503	SO:0001583	missense	55002					integral to membrane	solute:hydrogen antiporter activity	g.chr13:114193756G>A	BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1624G>A	13.37:g.114193756G>A	ENSP00000389399:p.Glu542Lys						p.E542K	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	all cancers(43;0.0317)		10	1985	+	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	542					Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	ENST00000434316.2	37	c.1624G>A	CCDS9537.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495613	0.26774	.	.	ENSG00000150403	ENST00000434316	T	0.15017	2.46	4.52	4.52	0.55395	Cation/H+ exchanger (1);	0.371143	0.28527	N	0.015040	T	0.24624	0.0597	M	0.71581	2.175	0.80722	D	1	B	0.30179	0.271	B	0.30401	0.115	T	0.07888	-1.0749	10	0.48119	T	0.1	-17.2733	17.6532	0.88170	0.0:0.0:1.0:0.0	.	542	Q6UWJ1	TMCO3_HUMAN	K	542	ENSP00000389399:E542K	ENSP00000389399:E542K	E	+	1	0	TMCO3	113241757	1.000000	0.71417	0.988000	0.46212	0.163000	0.22366	3.567000	0.53813	2.227000	0.72691	0.442000	0.29010	GAG		PASS	0.577	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045931.3	NM_017905		30	153	30	153	---	---	---	---
PARP2	10038	broad.mit.edu	37	14	20825306	20825306	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:20825306G>A	ENST00000250416.5	+	14	1492	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	PARP2_ENST00000429687.3_Missense_Mutation_p.E476K|PARP2_ENST00000527915.1_Missense_Mutation_p.E489K	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	489	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E440K(1)|p.E489K(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GCTCTTATCAGAGGTGAGACA	0.423								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001vxc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1465-1467)GAG>AAG	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 2							94.0	81.0	85.0					14																	20825306		1888	4122	6010	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20825306G>A	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.1465G>A	14.37:g.20825306G>A	ENSP00000250416:p.Glu489Lys					PARP2_uc001vxd.2_Missense_Mutation_p.E476K|PARP2_uc001vxb.1_Missense_Mutation_p.E489K|PARP2_uc010tle.1_Missense_Mutation_p.E239K	p.E489K	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	14	1493	+	all_cancers(95;0.00092)	all_lung(585;0.235)	489			PARP catalytic.		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.1465G>A	CCDS41910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.054089|5.054089	0.93793|0.93793	.|.	.|.	ENSG00000129484|ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915|ENST00000539930	T;T;T|.	0.15834|.	2.39;2.39;2.39|.	5.5|5.5	5.5|5.5	0.81552|0.81552	Poly(ADP-ribose) polymerase, catalytic domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79610|0.79610	0.4475|0.4475	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.997;0.999;1.0|.	T|T	0.80063|0.80063	-0.1539|-0.1539	10|5	0.62326|.	D|.	0.03|.	-27.065|-27.065	18.3417|18.3417	0.90308|0.90308	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	402;476;489|.	B4DV82;Q9UGN5-2;Q9UGN5|.	.;.;PARP2_HUMAN|.	K|K	476;489;489|165	ENSP00000392972:E476K;ENSP00000250416:E489K;ENSP00000432283:E489K|.	ENSP00000250416:E489K|.	E|R	+|+	1|2	0|0	PARP2|PARP2	19895146|19895146	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	7.937000|7.937000	0.87672|0.87672	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GAG|AGA		PASS	0.423	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			33	92	33	92	---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26917321	26917321	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:26917321C>A	ENST00000539517.2	-	5	1685	c.1368G>T	c.(1366-1368)caG>caT	p.Q456H	NOVA1_ENST00000465357.2_Missense_Mutation_p.Q432H|NOVA1_ENST00000267422.7_Missense_Mutation_p.Q334H	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	459	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q456H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTTTGGAGATCTGTATCCTTG	0.428																																						uc001wpy.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(1366-1368)CAG>CAT		neuro-oncological ventral antigen 1 isoform 1							166.0	136.0	146.0					14																	26917321		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917321C>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1368G>T	14.37:g.26917321C>A	ENSP00000438875:p.Gln456His					NOVA1_uc001wpz.2_Missense_Mutation_p.Q432H|NOVA1_uc001wqa.2_Missense_Mutation_p.Q334H	p.Q456H	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1686	-			459			KH 3.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.1368G>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229564	0.58777	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.32023	1.47;1.47;1.47	5.92	5.92	0.95590	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.159402	0.44285	D	0.000462	T	0.60586	0.2280	M	0.78344	2.41	0.80722	D	1	D;P;P	0.55800	0.973;0.588;0.855	D;P;D	0.75484	0.986;0.836;0.918	T	0.59348	-0.7471	10	0.56958	D	0.05	-2.5056	20.3151	0.98650	0.0:1.0:0.0:0.0	.	459;432;456	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	H	432;456;334	ENSP00000447391:Q432H;ENSP00000438875:Q456H;ENSP00000267422:Q334H	ENSP00000267422:Q334H	Q	-	3	2	NOVA1	25987161	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.809000	0.96659	0.467000	0.42956	CAG		PASS	0.428	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		31	44	31	44	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33014486	33014486	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:33014486C>G	ENST00000280979.4	+	4	797	c.627C>G	c.(625-627)atC>atG	p.I209M	AKAP6_ENST00000557354.1_Missense_Mutation_p.I209M|AKAP6_ENST00000557272.1_Missense_Mutation_p.I209M	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	209					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.I209M(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AATTAACCATCAAATGTTCTC	0.423																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(625-627)ATC>ATG		A-kinase anchor protein 6							158.0	150.0	153.0					14																	33014486		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33014486C>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.627C>G	14.37:g.33014486C>G	ENSP00000280979:p.Ile209Met					AKAP6_uc010aml.2_Missense_Mutation_p.I206M	p.I209M	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	797	+	Breast(36;0.0388)|Prostate(35;0.15)		209					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.627C>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200910	0.58234	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.32753	2.7;1.45;1.44	6.08	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	M	0.66939	2.045	0.46478	D	0.999061	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.51325	-0.8720	10	0.87932	D	0	-6.3796	11.7694	0.51949	0.0:0.8657:0.0:0.1343	.	209;209	A7E242;Q13023	.;AKAP6_HUMAN	M	209	ENSP00000280979:I209M;ENSP00000450531:I209M;ENSP00000451247:I209M	ENSP00000280979:I209M	I	+	3	3	AKAP6	32084237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.633000	0.37113	2.894000	0.99253	0.655000	0.94253	ATC		PASS	0.423	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		36	164	36	164	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33014756	33014756	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:33014756C>T	ENST00000280979.4	+	4	1067	c.897C>T	c.(895-897)ctC>ctT	p.L299L	AKAP6_ENST00000557354.1_Silent_p.L299L|AKAP6_ENST00000557272.1_Silent_p.L299L	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	299					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.L299L(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGTATCTCTCTCAGTAGACG	0.478																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - coding silent(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(895-897)CTC>CTT		A-kinase anchor protein 6							109.0	102.0	104.0					14																	33014756		2203	4300	6503	SO:0001819	synonymous_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33014756C>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.897C>T	14.37:g.33014756C>T						AKAP6_uc010aml.2_Silent_p.L296L	p.L299L	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	1067	+	Breast(36;0.0388)|Prostate(35;0.15)		299					A7E242|A7E2D4|O15028	Silent	SNP	ENST00000280979.4	37	c.897C>T	CCDS9644.1																																																																																				PASS	0.478	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		6	141	6	141	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35262092	35262092	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:35262092C>T	ENST00000382422.2	-	11	1726	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	BAZ1A_ENST00000360310.1_Missense_Mutation_p.E467K|BAZ1A_ENST00000358716.4_Missense_Mutation_p.E467K			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	467	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.E467K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AGTGGGCCTTCACTGTCATTT	0.378																																						uc001wsk.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(1399-1401)GAA>AAA		bromodomain adjacent to zinc finger domain, 1A							125.0	117.0	120.0					14																	35262092		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35262092C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1399G>A	14.37:g.35262092C>T	ENSP00000371859:p.Glu467Lys					BAZ1A_uc001wsl.2_Missense_Mutation_p.E467K	p.E467K	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	12	1967	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		467			DDT.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.1399G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329750	0.95733	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	D;D;D	0.91996	-2.95;-2.95;-2.95	5.08	5.08	0.68730	DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	0.000000	0.85682	D	0.000000	D	0.94971	0.8373	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	D	0.94257	0.7499	10	0.41790	T	0.15	.	18.8467	0.92210	0.0:1.0:0.0:0.0	.	467;467	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	K	467;467;467;151	ENSP00000351555:E467K;ENSP00000371859:E467K;ENSP00000353458:E467K	ENSP00000351555:E467K	E	-	1	0	BAZ1A	34331843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.028000	0.76470	2.527000	0.85204	0.655000	0.94253	GAA		PASS	0.378	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			27	90	27	90	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42356068	42356068	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:42356068G>T	ENST00000298119.4	+	3	1429	c.240G>T	c.(238-240)ctG>ctT	p.L80L	LRFN5_ENST00000554120.1_Silent_p.L80L|LRFN5_ENST00000554171.1_Silent_p.L80L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	80						integral component of membrane (GO:0016021)		p.L80L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGTGGACCTGACTCTATCCA	0.378										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(238-240)CTG>CTT		leucine rich repeat and fibronectin type III							54.0	53.0	53.0					14																	42356068		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42356068G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.240G>T	14.37:g.42356068G>T		HNSCC(30;0.082)				LRFN5_uc010ana.2_Silent_p.L80L	p.L80L	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1438	+			80			Extracellular (Potential).|LRR 2.		B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.240G>T	CCDS9678.1																																																																																				PASS	0.378	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		31	59	31	59	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52526897	52526897	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:52526897C>G	ENST00000216286.5	-	3	711	c.712G>C	c.(712-714)Gaa>Caa	p.E238Q	NID2_ENST00000541773.1_Missense_Mutation_p.E185Q	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	238	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.E238Q(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TATGGTCCTTCTGACTTCAGA	0.473																																						uc001wzo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(712-714)GAA>CAA		nidogen 2 precursor							60.0	58.0	59.0					14																	52526897		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52526897C>G	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.712G>C	14.37:g.52526897C>G	ENSP00000216286:p.Glu238Gln					NID2_uc010tqs.1_Missense_Mutation_p.E238Q|NID2_uc010tqt.1_Missense_Mutation_p.E238Q|NID2_uc001wzp.2_Missense_Mutation_p.E238Q	p.E238Q	NM_007361	NP_031387	Q14112	NID2_HUMAN			3	946	-	Breast(41;0.0639)|all_epithelial(31;0.123)		238			NIDO.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.712G>C	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535104	0.45073	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.84442	-1.85;-1.74	5.48	4.59	0.56863	Nidogen, extracellular domain (3);	0.600377	0.18998	N	0.125412	T	0.76976	0.4063	N	0.25286	0.73	0.34793	D	0.735894	P;P;B	0.42908	0.513;0.793;0.066	B;B;B	0.42959	0.104;0.403;0.028	T	0.80291	-0.1444	10	0.33940	T	0.23	.	10.4676	0.44618	0.1509:0.7036:0.1454:0.0	.	185;240;238	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	Q	238;185;240	ENSP00000216286:E238Q;ENSP00000443730:E185Q	ENSP00000216286:E238Q	E	-	1	0	NID2	51596647	0.999000	0.42202	0.994000	0.49952	0.841000	0.47740	1.819000	0.39022	1.452000	0.47756	0.650000	0.86243	GAA		PASS	0.473	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			8	84	8	84	---	---	---	---
PLEKHG3	26030	broad.mit.edu	37	14	65198834	65198834	+	Missense_Mutation	SNP	C	C	T	rs368245076		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:65198834C>T	ENST00000394691.1	+	10	1294	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R327W			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	383	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R327W(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGAGGAGAAACGGAACTGGAC	0.557																																						uc001xho.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1147-1149)CGG>TGG		pleckstrin homology domain containing, family G,		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	143.0	115.0	124.0		979	5.0	1.0	14		124	0,8600		0,0,4300	no	missense	PLEKHG3	NM_015549.1	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	327/1164	65198834	2,13004	2203	4300	6503	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65198834C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1147C>T	14.37:g.65198834C>T	ENSP00000378183:p.Arg383Trp					PLEKHG3_uc001xhn.1_Missense_Mutation_p.R327W|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R383W|PLEKHG3_uc010aqh.1_Translation_Start_Site	p.R383W	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	10	1416	+			383			PH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.1147C>T		.	.	.	.	.	.	.	.	.	.	C	18.95	3.732713	0.69189	4.54E-4	0.0	ENSG00000126822	ENST00000247226;ENST00000394691	T;T	0.76578	-1.03;-1.03	5.04	5.04	0.67666	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.232072	0.34802	N	0.003672	D	0.88966	0.6581	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.90715	0.4630	10	0.87932	D	0	.	17.2246	0.86966	0.0:1.0:0.0:0.0	.	383;327	A1L390;A1L390-3	PKHG3_HUMAN;.	W	327;383	ENSP00000247226:R327W;ENSP00000378183:R383W	ENSP00000247226:R327W	R	+	1	2	PLEKHG3	64268587	0.981000	0.34729	0.997000	0.53966	0.843000	0.47879	3.016000	0.49607	2.351000	0.79841	0.555000	0.69702	CGG		PASS	0.557	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		14	152	14	152	---	---	---	---
MPP5	64398	broad.mit.edu	37	14	67787014	67787014	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:67787014G>A	ENST00000261681.4	+	12	2098	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K	MPP5_ENST00000555925.1_Silent_p.K445K|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	479	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.K479K(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CAAATAGGAAGAGACCTATCA	0.413																																						uc001xjc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1435-1437)AAG>AAA		membrane protein, palmitoylated 5							108.0	102.0	105.0					14																	67787014		2203	4300	6503	SO:0001819	synonymous_variant	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67787014G>A	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1437G>A	14.37:g.67787014G>A						MPP5_uc001xjd.2_Silent_p.K445K|ATP6V1D_uc001xje.2_Intron	p.K479K	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	12	1903	+			479			Guanylate kinase-like.		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Silent	SNP	ENST00000261681.4	37	c.1437G>A	CCDS9779.1																																																																																				PASS	0.413	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		32	129	32	129	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71227771	71227771	+	Missense_Mutation	SNP	C	C	T	rs200962207		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:71227771C>T	ENST00000554752.2	-	3	948	c.949G>A	c.(949-951)Gca>Aca	p.A317T	MAP3K9_ENST00000554146.1_Missense_Mutation_p.A54T|MAP3K9_ENST00000553414.1_Missense_Mutation_p.A11T|MAP3K9_ENST00000555993.2_Missense_Mutation_p.A317T|MAP3K9_ENST00000381250.4_Missense_Mutation_p.A317T	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	317	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.A317T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACTTCGGGTGCCATCCAAGCA	0.552																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.2																			1	Substitution - Missense(1)		lung(1)	stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(949-951)GCA>ACA		mitogen-activated protein kinase kinase kinase							177.0	152.0	161.0					14																	71227771		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71227771C>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.949G>A	14.37:g.71227771C>T	ENSP00000451612:p.Ala317Thr					MAP3K9_uc010ttk.1_Missense_Mutation_p.A54T|MAP3K9_uc001xmk.2_Missense_Mutation_p.A11T|MAP3K9_uc001xml.2_Missense_Mutation_p.A317T	p.A317T	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	3	949	-			317			Protein kinase.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.949G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.587638	0.96590	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75	5.13	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	H	0.99042	4.41	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.997	D	0.99327	1.0908	10	0.87932	D	0	.	18.7843	0.91947	0.0:1.0:0.0:0.0	.	54;317;317;11	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	T	317;317;11;317;54;45	ENSP00000451612:A317T;ENSP00000451038:A11T;ENSP00000370649:A317T;ENSP00000451921:A54T	ENSP00000005198:A317T	A	-	1	0	MAP3K9	70297524	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	7.560000	0.82277	2.685000	0.91497	0.455000	0.32223	GCA		PASS	0.552	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			43	90	43	90	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77492740	77492740	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:77492740G>T	ENST00000238647.3	-	1	2294	c.1396C>A	c.(1396-1398)Cac>Aac	p.H466N		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	466					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.H466N(2)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CCGGAGCCGTGCTTCTTTTCG	0.627																																						uc001xsy.2																			2	Substitution - Missense(2)		lung(1)|skin(1)		0						c.(1396-1398)CAC>AAC		chromosome 14 open reading frame 4							23.0	23.0	23.0					14																	77492740		2203	4300	6503	SO:0001583	missense	64207					nucleus		g.chr14:77492740G>T	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1396C>A	14.37:g.77492740G>T	ENSP00000238647:p.His466Asn						p.H466N	NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)	1	2295	-			466					Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	c.1396C>A	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487857	0.44249	.	.	ENSG00000119669	ENST00000238647	T	0.16196	2.36	3.92	3.92	0.45320	.	0.000000	0.64402	U	0.000002	T	0.17365	0.0417	L	0.46157	1.445	0.50632	D	0.99988	B	0.30824	0.296	B	0.28553	0.091	T	0.08289	-1.0729	10	0.87932	D	0	.	14.6747	0.68969	0.0:0.0:1.0:0.0	.	466	Q9H1B7	I2BPL_HUMAN	N	466	ENSP00000238647:H466N	ENSP00000238647:H466N	H	-	1	0	IRF2BPL	76562493	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.919000	0.70005	2.013000	0.59113	0.462000	0.41574	CAC		PASS	0.627	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		5	59	5	59	---	---	---	---
SAMD15	161394	broad.mit.edu	37	14	77845400	77845400	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:77845400C>G	ENST00000216471.4	+	1	1925	c.1639C>G	c.(1639-1641)Cca>Gca	p.P547A	TMED8_ENST00000216468.7_5'Flank|SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	547	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.							p.P547A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TAATTGGGATCCAGAGGAAGT	0.423																																						uc001xtq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1639-1641)CCA>GCA		hypothetical protein LOC161394							71.0	69.0	69.0					14																	77845400		2202	4300	6502	SO:0001583	missense	161394							g.chr14:77845400C>G	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1639C>G	14.37:g.77845400C>G	ENSP00000216471:p.Pro547Ala					TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	p.P547A	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	1	1639	+			547			SAM.		Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.1639C>G	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351198	0.61183	.	.	ENSG00000100583	ENST00000216471	D	0.84442	-1.85	5.17	4.28	0.50868	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.248562	0.21226	N	0.078072	D	0.83403	0.5247	L	0.29908	0.895	0.30089	N	0.808514	P	0.48503	0.911	P	0.54889	0.763	T	0.78610	-0.2137	10	0.30854	T	0.27	-3.8385	11.09	0.48110	0.0:0.9111:0.0:0.0889	.	547	Q9P1V8	SAM15_HUMAN	A	547	ENSP00000216471:P547A	ENSP00000216471:P547A	P	+	1	0	SAMD15	76915153	1.000000	0.71417	0.995000	0.50966	0.733000	0.41908	2.129000	0.42055	1.176000	0.42840	-0.291000	0.09656	CCA		PASS	0.423	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		26	146	26	146	---	---	---	---
TSHR	7253	broad.mit.edu	37	14	81610460	81610460	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:81610460G>C	ENST00000541158.2	+	11	2380	c.2058G>C	c.(2056-2058)caG>caC	p.Q686H	TSHR_ENST00000298171.2_Missense_Mutation_p.Q686H|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	686					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.Q686H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AGGCCTTCCAGAGGGATGTGT	0.478			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		1	Substitution - Missense(1)		lung(1)	thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(2056-2058)CAG>CAC		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)						160.0	154.0	156.0					14																	81610460		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610460G>C	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.2058G>C	14.37:g.81610460G>C	ENSP00000441235:p.Gln686His						p.Q686H	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	2214	+			686			Cytoplasmic (Potential).		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.2058G>C	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299256	0.40694	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.38077	1.16;1.16	5.23	2.25	0.28309	.	0.108350	0.64402	D	0.000006	T	0.41003	0.1140	L	0.58101	1.795	0.39556	D	0.969044	D	0.55800	0.973	P	0.56823	0.807	T	0.42882	-0.9425	10	0.87932	D	0	.	0.9976	0.01470	0.2903:0.255:0.3161:0.1386	.	686	F5GYU5	.	H	686;333;686	ENSP00000441235:Q686H;ENSP00000298171:Q686H	ENSP00000298171:Q686H	Q	+	3	2	TSHR	80680213	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.619000	0.24388	0.612000	0.30071	-0.291000	0.09656	CAG		PASS	0.478	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		25	383	25	383	---	---	---	---
CPSF2	53981	broad.mit.edu	37	14	92624038	92624038	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:92624038C>T	ENST00000298875.4	+	13	1916	c.1631C>T	c.(1630-1632)tCt>tTt	p.S544F		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	544					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)	p.S544F(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GAAGGACGCTCTGATGGGGAT	0.393																																					Ovarian(78;28 1788 18702 44111)	uc001yah.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1630-1632)TCT>TTT		cleavage and polyadenylation specific factor 2							51.0	52.0	52.0					14																	92624038		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92624038C>T	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1631C>T	14.37:g.92624038C>T	ENSP00000298875:p.Ser544Phe						p.S544F	NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	13	1868	+		all_cancers(154;0.0766)	544					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.1631C>T	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945502	0.92593	.	.	ENSG00000165934	ENST00000298875	T	0.49720	0.77	5.74	5.74	0.90152	RNA-metabolising metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	T	0.71986	0.3405	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73943	-0.3823	10	0.72032	D	0.01	.	19.9357	0.97140	0.0:1.0:0.0:0.0	.	544	Q9P2I0	CPSF2_HUMAN	F	544	ENSP00000298875:S544F	ENSP00000298875:S544F	S	+	2	0	CPSF2	91693791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.726000	0.84824	2.715000	0.92844	0.655000	0.94253	TCT		PASS	0.393	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			11	43	11	43	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95557681	95557681	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:95557681C>T	ENST00000526495.1	-	27	5677	c.5386G>A	c.(5386-5388)Gaa>Aaa	p.E1796K	DICER1_ENST00000527416.2_5'Flank|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000343455.3_Missense_Mutation_p.E1796K|DICER1_ENST00000393063.1_Missense_Mutation_p.E1796K|DICER1_ENST00000527414.1_Missense_Mutation_p.E1796K|DICER1_ENST00000556045.1_Missense_Mutation_p.E694K			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1796	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.E1796K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCTTTCTCTTCATCCTCCTCA	0.438			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(5386-5388)GAA>AAA		dicer1							174.0	180.0	178.0					14																	95557681		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95557681C>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5386G>A	14.37:g.95557681C>T	ENSP00000437256:p.Glu1796Lys					DICER1_uc010avh.1_Missense_Mutation_p.E694K|DICER1_uc001ydv.2_Missense_Mutation_p.E1786K|DICER1_uc001ydx.2_Missense_Mutation_p.E1796K	p.E1796K	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	26	5568	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1796			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5386G>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410558	0.83340	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.93	5.93	0.95920	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	M	0.88979	2.995	0.80722	D	1	P;D	0.64830	0.8;0.994	P;D	0.64506	0.722;0.926	D	0.85539	0.1214	10	0.27785	T	0.31	-23.5312	20.3465	0.98790	0.0:1.0:0.0:0.0	.	694;1796	B3KRG4;Q9UPY3	.;DICER_HUMAN	K	1796;1796;1796;1796;694	ENSP00000343745:E1796K;ENSP00000437256:E1796K;ENSP00000376783:E1796K;ENSP00000435681:E1796K;ENSP00000451041:E694K	ENSP00000343745:E1796K	E	-	1	0	DICER1	94627434	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	7.319000	0.79040	2.798000	0.96311	0.655000	0.94253	GAA		PASS	0.438	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			21	266	21	266	---	---	---	---
SETD3	84193	broad.mit.edu	37	14	99872906	99872906	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:99872906C>T	ENST00000331768.5	-	9	1030	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	291	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.E291K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CGGTCATCTTCCAGGTTGTAA	0.532																																						uc001ygc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(871-873)GAA>AAA		SET domain containing 3 isoform a							141.0	95.0	111.0					14																	99872906		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99872906C>T	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.871G>A	14.37:g.99872906C>T	ENSP00000327436:p.Glu291Lys						p.E291K	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN			9	1041	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	291			SET.		A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.871G>A	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	C	36	5.605846	0.96626	.	.	ENSG00000183576	ENST00000331768	T	0.81330	-1.48	5.44	5.44	0.79542	SET domain (1);	0.000000	0.85682	D	0.000000	D	0.84584	0.5504	L	0.41415	1.275	0.80722	D	1	D	0.71674	0.998	D	0.67548	0.952	T	0.79838	-0.1634	10	0.15952	T	0.53	-23.1091	19.2703	0.94006	0.0:1.0:0.0:0.0	.	291	Q86TU7	SETD3_HUMAN	K	291	ENSP00000327436:E291K	ENSP00000327436:E291K	E	-	1	0	SETD3	98942659	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.404000	0.79996	2.553000	0.86117	0.563000	0.77884	GAA		PASS	0.532	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		20	78	20	78	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22368834	22368834	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:22368834G>T	ENST00000332663.2	+	1	357	c.259G>T	c.(259-261)Gtg>Ttg	p.V87L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V87L(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)	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)		AGACTTCTTTGTGGAGAGGAA	0.438																																						uc010tzu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(259-261)GTG>TTG		olfactory receptor, family 4, subfamily M,							355.0	305.0	322.0					15																	22368834		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368834G>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.259G>T	15.37:g.22368834G>T	ENSP00000329467:p.Val87Leu					LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.V87L	NM_001004719	NP_001004719	Q8NGB6	OR4M2_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)	1	259	+		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)	87			Extracellular (Potential).		B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.259G>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	9.235	1.036936	0.19669	.	.	ENSG00000182974	ENST00000332663	T	0.00392	7.58	2.5	1.56	0.23342	GPCR, rhodopsin-like superfamily (1);	0.164696	0.28688	N	0.014464	T	0.00178	0.0005	N	0.17901	0.54	0.09310	N	0.999999	B	0.19331	0.035	B	0.17098	0.017	T	0.24261	-1.0165	10	0.15499	T	0.54	-6.4911	7.0514	0.25075	0.1495:0.0:0.8505:0.0	.	87	Q8NGB6	OR4M2_HUMAN	L	87	ENSP00000329467:V87L	ENSP00000329467:V87L	V	+	1	0	OR4M2	19870198	0.000000	0.05858	0.999000	0.59377	0.982000	0.71751	-0.464000	0.06688	0.390000	0.25115	0.448000	0.29417	GTG		PASS	0.438	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			138	652	138	652	---	---	---	---
TUBGCP5	114791	broad.mit.edu	37	15	22840318	22840318	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:22840318G>A	ENST00000283645.4	+	4	514	c.384G>A	c.(382-384)gaG>gaA	p.E128E	TUBGCP5_ENST00000453949.2_Silent_p.E128E	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	128					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.E128E(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTTATGTGGAGACACCAAGAA	0.328																																						uc001yur.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(382-384)GAG>GAA		tubulin, gamma complex associated protein 5							117.0	113.0	114.0					15																	22840318		2203	4300	6503	SO:0001819	synonymous_variant	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22840318G>A	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.384G>A	15.37:g.22840318G>A						TUBGCP5_uc001yuq.2_Silent_p.E128E	p.E128E	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	4	514	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	128					E9PB12|Q6IQ52|Q96PY8	Silent	SNP	ENST00000283645.4	37	c.384G>A	CCDS10008.1																																																																																				PASS	0.328	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		20	149	20	149	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28273169	28273169	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:28273169G>A	ENST00000354638.3	-	4	518	c.363C>T	c.(361-363)atC>atT	p.I121I	OCA2_ENST00000353809.5_Silent_p.I121I|OCA2_ENST00000382996.2_Silent_p.I121I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	121					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.I121I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTTCAGCAGTGATGAACTCTG	0.507									Oculocutaneous Albinism																													uc001zbh.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(361-363)ATC>ATT		oculocutaneous albinism II							132.0	122.0	125.0					15																	28273169		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28273169G>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.363C>T	15.37:g.28273169G>A						OCA2_uc010ayv.2_Silent_p.I121I	p.I121I	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	4	473	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	121			Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.363C>T	CCDS10020.1																																																																																				PASS	0.507	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		56	477	56	477	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28460911	28460911	+	Silent	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:28460911C>G	ENST00000261609.7	-	39	6174	c.6066G>C	c.(6064-6066)cgG>cgC	p.R2022R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R2022R(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCACCAGCTCCGGTGTTGCT	0.562																																						uc001zbj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(6064-6066)CGG>CGC		hect domain and RLD 2							21.0	22.0	21.0					15																	28460911		2183	4275	6458	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28460911C>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6066G>C	15.37:g.28460911C>G							p.R2022R	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	39	6172	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2022						Silent	SNP	ENST00000261609.7	37	c.6066G>C	CCDS10021.1																																																																																				PASS	0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		11	105	11	105	---	---	---	---
EXD1	161829	broad.mit.edu	37	15	41476221	41476221	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:41476221G>C	ENST00000314992.5	-	10	1643	c.1453C>G	c.(1453-1455)Cct>Gct	p.P485A	EXD1_ENST00000458580.2_Missense_Mutation_p.P543A	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	485							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.P485A(1)		large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTTCTGATAGGATAAAAAGTG	0.443																																						uc001znk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1453-1455)CCT>GCT		exonuclease 3'-5' domain containing 1							112.0	105.0	108.0					15																	41476221		2203	4300	6503	SO:0001583	missense	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41476221G>C	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.1453C>G	15.37:g.41476221G>C	ENSP00000321029:p.Pro485Ala					EXD1_uc001znj.2_Missense_Mutation_p.P283A|EXD1_uc010ucv.1_Missense_Mutation_p.P543A	p.P485A	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN			10	1644	-			485					A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	ENST00000314992.5	37	c.1453C>G	CCDS10072.1	.	.	.	.	.	.	.	.	.	.	G	3.547	-0.092525	0.07053	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.47528	0.84;0.86	4.79	2.9	0.33743	.	0.400334	0.24334	N	0.039439	T	0.34803	0.0910	L	0.27053	0.805	0.09310	N	1	B;B;P	0.45531	0.131;0.131;0.86	B;B;P	0.44561	0.079;0.079;0.453	T	0.10870	-1.0611	10	0.44086	T	0.13	-9.7478	7.5938	0.28035	0.0859:0.0:0.7495:0.1646	.	543;485;283	B7Z839;Q8NHP7;Q8NHP7-2	.;EXD1_HUMAN;.	A	485;543	ENSP00000321029:P485A;ENSP00000415056:P543A	ENSP00000321029:P485A	P	-	1	0	EXD1	39263513	0.609000	0.26975	0.018000	0.16275	0.018000	0.09664	1.043000	0.30316	0.928000	0.37168	0.655000	0.94253	CCT		PASS	0.443	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		11	266	11	266	---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41822154	41822154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:41822154G>A	ENST00000304330.4	-	8	1083	c.967C>T	c.(967-969)Cag>Tag	p.Q323*	RPAP1_ENST00000568413.1_5'UTR|RPAP1_ENST00000561603.1_Nonsense_Mutation_p.Q323*	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	323						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.Q323*(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CATTCTTTCTGAGGGGTCACG	0.592																																						uc001zod.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(967-969)CAG>TAG		RNA polymerase II associated protein 1							53.0	46.0	48.0					15																	41822154		2203	4300	6503	SO:0001587	stop_gained	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41822154G>A	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.967C>T	15.37:g.41822154G>A	ENSP00000306123:p.Gln323*						p.Q323*	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	8	1091	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	323					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Nonsense_Mutation	SNP	ENST00000304330.4	37	c.967C>T	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061644	0.76187	.	.	ENSG00000103932	ENST00000304330	.	.	.	4.77	0.357	0.16079	.	0.502303	0.21872	N	0.067870	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	0.0327	8.9592	0.35836	0.0:0.2582:0.4598:0.282	.	.	.	.	X	323	.	ENSP00000306123:Q323X	Q	-	1	0	RPAP1	39609446	1.000000	0.71417	0.122000	0.21767	0.478000	0.33099	2.345000	0.44018	-0.084000	0.12595	-0.311000	0.09066	CAG		PASS	0.592	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		6	97	6	97	---	---	---	---
PLA2G4B	100137049	broad.mit.edu	37	15	42137191	42137191	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:42137191G>A	ENST00000452633.1	+	14	1514	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	PLA2G4B_ENST00000542534.2_Missense_Mutation_p.E619K|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.E619K|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.E619K|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.E388K			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	388	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)	p.E619K(2)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GGAGCTGGCCGAGCGTGCCCG	0.677																																						uc010bco.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	large_intestine(1)	1						c.(1162-1164)GAG>AAG		phospholipase A2, group IVB							18.0	19.0	18.0					15																	42137191		2199	4292	6491	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42137191G>A	AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1162G>A	15.37:g.42137191G>A	ENSP00000396045:p.Glu388Lys					JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.E619K|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.E619K|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.E89K|JMJD7-PLA2G4B_uc001zor.1_Missense_Mutation_p.E89K	p.E388K	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN			13	1263	+			388			PLA2c.		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	c.1162G>A	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	4.620	0.115312	0.08831	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.51	4.6	0.57074	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.071496	0.53938	N	0.000055	T	0.07908	0.0198	L	0.49455	1.56	0.36235	D	0.85289	B;B;B;P	0.46578	0.015;0.019;0.005;0.88	B;B;B;B	0.34180	0.016;0.012;0.006;0.177	T	0.33904	-0.9850	10	0.27785	T	0.31	-26.4936	6.3345	0.21289	0.1614:0.1524:0.6862:0.0	.	388;619;89;619	P0C869;P0C869-7;P0C869-4;P0C869-6	PA24B_HUMAN;.;.;.	K	619;619;388;388	ENSP00000371886:E619K;ENSP00000342785:E619K;ENSP00000416610:E388K;ENSP00000396045:E388K	ENSP00000342785:E619K	E	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39924483	0.508000	0.26154	0.881000	0.34555	0.075000	0.17131	0.626000	0.24492	1.479000	0.48272	0.561000	0.74099	GAG		PASS	0.677	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633		5	21	5	21	---	---	---	---
TRIM69	140691	broad.mit.edu	37	15	45047286	45047286	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:45047286C>G	ENST00000559390.1	+	3	1123	c.195C>G	c.(193-195)atC>atG	p.I65M	TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.I65M|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000558329.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	65	Necessary for nuclear localization. {ECO:0000250}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I65M(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AAGCCTGTATCCAAGACTTTT	0.448																																					Pancreas(84;519 1450 1802 20427 34706)	uc001zuf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)ATC>ATG		tripartite motif-containing 69 isoform a							168.0	141.0	150.0					15																	45047286		2198	4298	6496	SO:0001583	missense	140691				apoptosis	nuclear speck	zinc ion binding	g.chr15:45047286C>G	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.195C>G	15.37:g.45047286C>G	ENSP00000453177:p.Ile65Met					TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron|TRIM69_uc001zug.1_Missense_Mutation_p.I65M|TRIM69_uc001zuh.1_Intron	p.I65M	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	3	1090	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)	65			Necessary for nuclear localization (By similarity).|RING-type.		A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	c.195C>G	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.909041	0.52439	.	.	ENSG00000185880	ENST00000329464	T	0.14391	2.51	5.58	-0.509	0.11977	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.143577	0.37906	N	0.001889	T	0.33147	0.0853	M	0.79805	2.47	0.28671	N	0.905645	D	0.89917	1.0	D	0.79784	0.993	T	0.11542	-1.0583	10	0.72032	D	0.01	.	10.0579	0.42257	0.0:0.5262:0.0:0.4738	.	65	Q86WT6	TRI69_HUMAN	M	65	ENSP00000332284:I65M	ENSP00000332284:I65M	I	+	3	3	TRIM69	42834578	0.944000	0.32072	0.998000	0.56505	0.906000	0.53458	-0.031000	0.12287	0.004000	0.14682	-0.259000	0.10710	ATC		PASS	0.448	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			15	296	15	296	---	---	---	---
DUOXA2	405753	broad.mit.edu	37	15	45408348	45408348	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:45408348G>A	ENST00000323030.5	+	3	517	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	78					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.V78M(1)					all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		AGAATGGTTCGTGGGTACAGT	0.557																																						uc001zuo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)GTG>ATG		dual oxidase activator 2							132.0	127.0	129.0					15																	45408348		1996	4164	6160	SO:0001583	missense	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45408348G>A	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.232G>A	15.37:g.45408348G>A	ENSP00000319705:p.Val78Met					DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	p.V78M	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	3	512	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	78			Extracellular (Potential).		B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.232G>A	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268076	0.80469	.	.	ENSG00000140274	ENST00000323030	T	0.56941	0.43	5.41	5.41	0.78517	.	0.327508	0.33895	N	0.004457	T	0.69655	0.3135	M	0.75447	2.3	0.37820	D	0.928335	D	0.89917	1.0	D	0.73380	0.98	T	0.74377	-0.3685	10	0.52906	T	0.07	-28.2098	11.5724	0.50841	0.0908:0.0:0.9092:0.0	.	78	Q1HG44	DOXA2_HUMAN	M	78	ENSP00000319705:V78M	ENSP00000319705:V78M	V	+	1	0	DUOXA2	43195640	1.000000	0.71417	0.995000	0.50966	0.850000	0.48378	4.934000	0.63491	2.542000	0.85734	0.561000	0.74099	GTG		PASS	0.557	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		18	675	18	675	---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49284821	49284821	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:49284821T>A	ENST00000559471.1	-	18	3189	c.2926A>T	c.(2926-2928)Atc>Ttc	p.I976F	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I931F	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	976							poly(A) RNA binding (GO:0044822)	p.I931F(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GTGCTGGTGATGGAGGAATTC	0.478																																						uc001zxe.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(2926-2928)ATC>TTC		SECIS binding protein 2-like							115.0	105.0	108.0					15																	49284821		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49284821T>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2926A>T	15.37:g.49284821T>A	ENSP00000453854:p.Ile976Phe					SECISBP2L_uc001zxd.1_Missense_Mutation_p.I931F	p.I976F	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			18	3060	-			976					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2926A>T	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550909	0.86127	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.75050	-0.9	5.19	5.19	0.71726	.	0.054483	0.64402	D	0.000001	T	0.65719	0.2718	L	0.27053	0.805	0.51482	D	0.999927	P;P	0.49783	0.883;0.928	B;P	0.44897	0.274;0.463	T	0.65138	-0.6241	10	0.28530	T	0.3	.	15.2121	0.73235	0.0:0.0:0.0:1.0	.	976;931	Q93073;Q93073-2	SBP2L_HUMAN;.	F	931;976	ENSP00000261847:I931F	ENSP00000261847:I931F	I	-	1	0	SECISBP2L	47072113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.505000	0.81655	2.183000	0.69458	0.533000	0.62120	ATC		PASS	0.478	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		33	120	33	120	---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49284823	49284823	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:49284823G>A	ENST00000559471.1	-	18	3187	c.2924C>T	c.(2923-2925)tCc>tTc	p.S975F	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.S930F	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	975							poly(A) RNA binding (GO:0044822)	p.S930F(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GCTGGTGATGGAGGAATTCAA	0.478																																						uc001zxe.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(2923-2925)TCC>TTC		SECIS binding protein 2-like							118.0	108.0	111.0					15																	49284823		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49284823G>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2924C>T	15.37:g.49284823G>A	ENSP00000453854:p.Ser975Phe					SECISBP2L_uc001zxd.1_Missense_Mutation_p.S930F	p.S975F	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			18	3058	-			975					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2924C>T	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561773	0.86335	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.76578	-1.03	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.82935	0.5145	L	0.29908	0.895	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	D	0.84415	0.0568	10	0.62326	D	0.03	.	18.9031	0.92451	0.0:0.0:1.0:0.0	.	975;930	Q93073;Q93073-2	SBP2L_HUMAN;.	F	930;975	ENSP00000261847:S930F	ENSP00000261847:S930F	S	-	2	0	SECISBP2L	47072115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.238000	0.95380	2.702000	0.92279	0.655000	0.94253	TCC		PASS	0.478	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		33	121	33	121	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51828946	51828946	+	Silent	SNP	C	C	A	rs148694560		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:51828946C>A	ENST00000251076.5	-	12	2018	c.1731G>T	c.(1729-1731)acG>acT	p.T577T	DMXL2_ENST00000449909.3_Silent_p.T577T|DMXL2_ENST00000543779.2_Silent_p.T577T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	577						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.T577T(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GGTGTAACAGCGTGTGGTGAG	0.458																																						uc002abf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)	9						c.(1729-1731)ACG>ACT		Dmx-like 2							134.0	109.0	117.0					15																	51828946		2195	4293	6488	SO:0001819	synonymous_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51828946C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1731G>T	15.37:g.51828946C>A						DMXL2_uc010ufy.1_Silent_p.T577T|DMXL2_uc010bfa.2_Silent_p.T577T	p.T577T	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	12	1956	-			577					B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	c.1731G>T	CCDS10141.1																																																																																				PASS	0.458	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		48	147	48	147	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54306253	54306253	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:54306253C>G	ENST00000260323.11	+	1	1153	c.1153C>G	c.(1153-1155)Caa>Gaa	p.Q385E	UNC13C_ENST00000545554.1_Missense_Mutation_p.Q385E|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q385E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	385					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.Q385E(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGAAACCCCTCAACAAAGGGA	0.383																																						uc002ack.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(1153-1155)CAA>GAA		unc-13 homolog C							71.0	67.0	69.0					15																	54306253		1822	4090	5912	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54306253C>G	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1153C>G	15.37:g.54306253C>G	ENSP00000260323:p.Gln385Glu						p.Q385E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	1153	+			385					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.1153C>G	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516908	0.27123	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79554	-1.28;-1.28;-1.28	5.38	4.45	0.53987	.	.	.	.	.	T	0.68229	0.2978	N	0.19112	0.55	0.46701	D	0.999162	B	0.31077	0.307	B	0.28991	0.097	T	0.65175	-0.6232	9	0.33940	T	0.23	.	14.4121	0.67121	0.1488:0.8512:0.0:0.0	.	385	Q8NB66	UN13C_HUMAN	E	385	ENSP00000260323:Q385E;ENSP00000438156:Q385E;ENSP00000442569:Q385E	ENSP00000260323:Q385E	Q	+	1	0	UNC13C	52093545	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.795000	0.62489	1.225000	0.43566	0.655000	0.94253	CAA		PASS	0.383	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		6	94	6	94	---	---	---	---
RNF111	54778	broad.mit.edu	37	15	59373224	59373224	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:59373224C>G	ENST00000557998.1	+	8	2325	c.2038C>G	c.(2038-2040)Caa>Gaa	p.Q680E	RNF111_ENST00000559209.1_Missense_Mutation_p.Q680E|RNF111_ENST00000561186.1_Missense_Mutation_p.Q680E|RNF111_ENST00000434298.1_Missense_Mutation_p.Q680E|RNF111_ENST00000348370.4_Missense_Mutation_p.Q680E	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	680	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q680E(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GCCTCCGCCTCAAGTGGATTA	0.488																																					NSCLC(72;983 1365 10746 34387 47081)	uc002afv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2038-2040)CAA>GAA		ring finger protein 111							209.0	191.0	197.0					15																	59373224		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59373224C>G	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2038C>G	15.37:g.59373224C>G	ENSP00000452732:p.Gln680Glu					RNF111_uc002afs.2_Missense_Mutation_p.Q680E|RNF111_uc002aft.2_Missense_Mutation_p.Q680E|RNF111_uc002afu.2_Missense_Mutation_p.Q679E|RNF111_uc002afw.2_Missense_Mutation_p.Q680E|RNF111_uc002afx.2_Missense_Mutation_p.Q206E	p.Q680E	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	8	2317	+			680			Pro-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.2038C>G	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425868	0.62733	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.15603	2.42;2.41	5.58	5.58	0.84498	.	0.196704	0.46145	D	0.000301	T	0.20333	0.0489	L	0.44542	1.39	0.53688	D	0.999973	B;B;B	0.21225	0.053;0.025;0.042	B;B;B	0.28638	0.092;0.031;0.068	T	0.02042	-1.1224	10	0.41790	T	0.15	-2.6594	17.7542	0.88444	0.0:1.0:0.0:0.0	.	680;680;680	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	E	680	ENSP00000288199:Q680E;ENSP00000393641:Q680E	ENSP00000288199:Q680E	Q	+	1	0	RNF111	57160516	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	6.981000	0.76166	2.647000	0.89833	0.467000	0.42956	CAA		PASS	0.488	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		35	324	35	324	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62173948	62173948	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:62173948G>A	ENST00000261517.5	-	70	9777	c.9704C>T	c.(9703-9705)tCa>tTa	p.S3235L	VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000249837.3_Missense_Mutation_p.S3192L|VPS13C_ENST00000395896.4_Missense_Mutation_p.S3235L|VPS13C_ENST00000395898.3_Missense_Mutation_p.S3192L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.S3235L(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TATTTTACCTGAATCTAAAGC	0.299																																						uc002agz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(9703-9705)TCA>TTA		vacuolar protein sorting 13C protein isoform 2A							48.0	50.0	49.0					15																	62173948		2202	4295	6497	SO:0001583	missense	54832				protein localization			g.chr15:62173948G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9704C>T	15.37:g.62173948G>A	ENSP00000261517:p.Ser3235Leu					VPS13C_uc002aha.2_Missense_Mutation_p.S3192L|VPS13C_uc002ahb.1_Missense_Mutation_p.S3235L|VPS13C_uc002ahc.1_Missense_Mutation_p.S3192L	p.S3235L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			70	9778	-			3235						Missense_Mutation	SNP	ENST00000261517.5	37	c.9704C>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103285	0.94245	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	D;D;D	0.81579	-1.51;-1.51;-1.51	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.90219	0.6942	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.69078	0.995;0.995;0.997;0.991	D;D;D;P	0.69142	0.962;0.931;0.962;0.855	D	0.90956	0.4809	10	0.72032	D	0.01	.	19.5169	0.95169	0.0:0.0:1.0:0.0	.	3192;3235;3192;3235	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	3192;3235;3235;3235	ENSP00000249837:S3192L;ENSP00000261517:S3235L;ENSP00000379233:S3235L	ENSP00000249837:S3192L	S	-	2	0	VPS13C	59961240	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.467000	0.97671	2.610000	0.88304	0.557000	0.71058	TCA		PASS	0.299	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		6	58	6	58	---	---	---	---
LACTB	114294	broad.mit.edu	37	15	63433984	63433984	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:63433984G>C	ENST00000261893.4	+	6	1696	c.1624G>C	c.(1624-1626)Gat>Cat	p.D542H	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	542						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.D542H(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						CCTTGAATTTGATAAAGACAG	0.353																																					Melanoma(85;443 1381 6215 27308 35583)	uc002alw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1624-1626)GAT>CAT		lactamase, beta isoform a							50.0	45.0	47.0					15																	63433984		2203	4299	6502	SO:0001583	missense	114294					mitochondrion	hydrolase activity	g.chr15:63433984G>C	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1624G>C	15.37:g.63433984G>C	ENSP00000261893:p.Asp542His						p.D542H	NM_032857	NP_116246	P83111	LACTB_HUMAN			6	1663	+			542					P83096	Missense_Mutation	SNP	ENST00000261893.4	37	c.1624G>C	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265571	0.80358	.	.	ENSG00000103642	ENST00000261893	T	0.51325	0.71	5.49	5.49	0.81192	.	0.230396	0.51477	D	0.000088	T	0.52175	0.1718	L	0.36672	1.1	0.80722	D	1	D	0.56035	0.974	P	0.51355	0.667	T	0.54289	-0.8316	10	0.72032	D	0.01	-19.9993	18.7241	0.91708	0.0:0.0:1.0:0.0	.	542	P83111	LACTB_HUMAN	H	542	ENSP00000261893:D542H	ENSP00000261893:D542H	D	+	1	0	LACTB	61221037	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.498000	0.97972	2.737000	0.93849	0.563000	0.77884	GAT		PASS	0.353	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857		9	114	9	114	---	---	---	---
IQCH	64799	broad.mit.edu	37	15	67571822	67571822	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:67571822C>T	ENST00000335894.4	+	4	425	c.359C>T	c.(358-360)tCa>tTa	p.S120L	IQCH_ENST00000512104.1_Missense_Mutation_p.S120L|IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000560790.1_3'UTR|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	120								p.S120L(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CAGCACAGTTCATCTCTGCCT	0.418																																						uc002aqo.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(358-360)TCA>TTA		IQ motif containing H isoform 1							50.0	48.0	49.0					15																	67571822		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67571822C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.359C>T	15.37:g.67571822C>T	ENSP00000336861:p.Ser120Leu					IQCH_uc010ujv.1_5'UTR|IQCH_uc002aqn.1_Intron|IQCH_uc002aqq.1_Intron|IQCH_uc002aqp.1_Intron|IQCH_uc002aqm.2_Missense_Mutation_p.S120L	p.S120L	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	4	406	+			120					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.359C>T	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759459	0.31137	.	.	ENSG00000103599	ENST00000512104;ENST00000335894;ENST00000535744	T	0.43294	0.95	5.41	2.5	0.30297	.	1.196700	0.05809	N	0.613709	T	0.32585	0.0834	L	0.38531	1.155	0.09310	N	0.999998	B;B	0.11235	0.002;0.004	B;B	0.12156	0.003;0.007	T	0.24048	-1.0171	10	0.21540	T	0.41	-0.3083	6.5972	0.22681	0.0:0.7113:0.0:0.2887	.	120;120	Q86VS3;B4E2J4	IQCH_HUMAN;.	L	120	ENSP00000336861:S120L	ENSP00000336861:S120L	S	+	2	0	IQCH	65358876	0.000000	0.05858	0.029000	0.17559	0.004000	0.04260	0.070000	0.14573	0.767000	0.33267	0.655000	0.94253	TCA		PASS	0.418	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		28	123	28	123	---	---	---	---
ISLR	3671	broad.mit.edu	37	15	74467562	74467562	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:74467562C>T	ENST00000249842.3	+	2	720	c.363C>T	c.(361-363)ctC>ctT	p.L121L	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.L121L	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	121					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)		p.L121L(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGCACAACCTCAGTGCCCTCC	0.622																																						uc002axg.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(361-363)CTC>CTT		immunoglobulin superfamily containing							91.0	88.0	89.0					15																	74467562		2198	4297	6495	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74467562C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.363C>T	15.37:g.74467562C>T						ISLR_uc002axh.1_Silent_p.L121L	p.L121L	NM_005545	NP_005536	O14498	ISLR_HUMAN			2	645	+			121			LRR 3.			Silent	SNP	ENST00000249842.3	37	c.363C>T	CCDS10260.1																																																																																				PASS	0.622	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		20	160	20	160	---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75974642	75974642	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:75974642G>C	ENST00000308508.5	-	8	5034	c.4942C>G	c.(4942-4944)Cag>Gag	p.Q1648E		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1648	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.Q1648E(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACCTCTGCCTGAGTGAAGTTC	0.652																																						uc002baw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(4942-4944)CAG>GAG		chondroitin sulfate proteoglycan 4 precursor							71.0	57.0	61.0					15																	75974642		2190	4271	6461	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75974642G>C	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4942C>G	15.37:g.75974642G>C	ENSP00000312506:p.Gln1648Glu						p.Q1648E	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			8	5035	-			1648			Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity).|CSPG 11.		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.4942C>G	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653901	0.88056	.	.	ENSG00000173546	ENST00000308508	T	0.37235	1.21	4.91	4.91	0.64330	.	0.000000	0.56097	D	0.000037	T	0.61739	0.2371	M	0.78049	2.395	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.67313	-0.5702	10	0.72032	D	0.01	.	16.6676	0.85257	0.0:0.0:1.0:0.0	.	1648	Q6UVK1	CSPG4_HUMAN	E	1648	ENSP00000312506:Q1648E	ENSP00000312506:Q1648E	Q	-	1	0	CSPG4	73761697	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	7.411000	0.80078	2.268000	0.75426	0.555000	0.69702	CAG		PASS	0.652	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897		22	235	22	235	---	---	---	---
ETFA	2108	broad.mit.edu	37	15	76576104	76576104	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:76576104C>A	ENST00000557943.1	-	8	807	c.727G>T	c.(727-729)Gct>Tct	p.A243S	ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000433983.2_Missense_Mutation_p.A194S|ETFA_ENST00000559602.1_Missense_Mutation_p.A139S|ETFA_ENST00000560816.1_5'UTR	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	243	Domain II. {ECO:0000269|PubMed:8962055}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity (GO:0016491)	p.A243S(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TTACCTGCAGCATGTAGTTGA	0.318																																						uc002bbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(727-729)GCT>TCT		electron transfer flavoprotein, alpha							75.0	73.0	74.0					15																	76576104		2196	4292	6488	SO:0001583	missense	2108				respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr15:76576104C>A	J04058	CCDS32299.1, CCDS45311.1	15q23-q25	2012-04-04	2008-08-01		ENSG00000140374	ENSG00000140374			3481	protein-coding gene	gene with protein product	"""glutaric aciduria II"""	608053					Standard	NM_000126		Approved	GA2, EMA, MADD	uc002bbt.2	P13804	OTTHUMG00000172586	ENST00000557943.1:c.727G>T	15.37:g.76576104C>A	ENSP00000452762:p.Ala243Ser					ETFA_uc010bkq.1_Missense_Mutation_p.A194S|ETFA_uc002bbu.1_Missense_Mutation_p.A243S	p.A243S	NM_000126	NP_000117	P13804	ETFA_HUMAN			8	808	-			243					B4DT43|Q53XN3	Missense_Mutation	SNP	ENST00000557943.1	37	c.727G>T	CCDS32299.1	.	.	.	.	.	.	.	.	.	.	c	27.9	4.875456	0.91664	.	.	ENSG00000140374	ENST00000433983;ENST00000267950	D	0.94092	-3.35	5.79	5.79	0.91817	Electron transfer flavoprotein, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97823	0.9285	H	0.94385	3.53	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.83275	0.991;0.996;0.996	D	0.98507	1.0617	10	0.87932	D	0	-21.8661	19.0163	0.92896	0.0:1.0:0.0:0.0	.	194;243;243	B4DT43;Q53XN3;P13804	.;.;ETFA_HUMAN	S	194;243	ENSP00000399273:A194S	ENSP00000267950:A243S	A	-	1	0	ETFA	74363159	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.061000	0.76699	2.727000	0.93392	0.655000	0.94253	GCT		PASS	0.318	ETFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419302.2	NM_000126		6	83	6	83	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79063573	79063573	+	Missense_Mutation	SNP	C	C	T	rs181665253		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:79063573C>T	ENST00000388820.4	-	16	2659	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	817					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E817K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCGGGACCTCGTCGTGGCCA	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18479	0.0		0.0	False		,,,				2504	0.0					uc002bej.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2449-2451)GAG>AAG		ADAM metallopeptidase with thrombospondin type 1							44.0	34.0	38.0					15																	79063573		2196	4293	6489	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79063573C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2449G>A	15.37:g.79063573C>T	ENSP00000373472:p.Glu817Lys					ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_3'UTR	p.E817K	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			16	2660	-			817					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2449G>A	CCDS32303.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.007	0.556087	0.13436	.	.	ENSG00000136378	ENST00000388820	T	0.59906	0.23	3.65	-6.96	0.01622	.	0.902592	0.09506	N	0.793019	T	0.43656	0.1257	L	0.55103	1.725	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.46345	-0.9198	10	0.09338	T	0.73	.	12.5937	0.56456	0.0:0.297:0.6201:0.0829	.	817	Q9UKP4	ATS7_HUMAN	K	817	ENSP00000373472:E817K	ENSP00000373472:E817K	E	-	1	0	ADAMTS7	76850628	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.829000	0.27449	-0.916000	0.03818	0.281000	0.19383	GAG		PASS	0.667	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		5	38	5	38	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85383195	85383195	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:85383195G>A	ENST00000258888.5	+	5	1458	c.1291G>A	c.(1291-1293)Ggg>Agg	p.G431R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	431					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G431R(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCGATTGAGCGGGGCTCAAGC	0.677																																						uc002ble.2																			2	Substitution - Missense(2)		lung(2)	stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(1291-1293)GGG>AGG		alpha-kinase 3							21.0	23.0	22.0					15																	85383195		2202	4297	6499	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85383195G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.1291G>A	15.37:g.85383195G>A	ENSP00000258888:p.Gly431Arg						p.G431R	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		5	1458	+			431					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.1291G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	8.284	0.816276	0.16607	.	.	ENSG00000136383	ENST00000258888	T	0.60672	0.17	4.95	4.95	0.65309	.	0.286703	0.29139	N	0.013024	T	0.46405	0.1391	L	0.34521	1.04	0.09310	N	1	P	0.52577	0.954	B	0.43728	0.429	T	0.45041	-0.9288	10	0.44086	T	0.13	-24.1351	9.3406	0.38079	0.0982:0.0:0.9018:0.0	.	431	Q96L96	ALPK3_HUMAN	R	431	ENSP00000258888:G431R	ENSP00000258888:G431R	G	+	1	0	ALPK3	83184199	.	.	0.125000	0.21846	0.012000	0.07955	.	.	2.273000	0.75805	0.563000	0.77884	GGG		PASS	0.677	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		5	71	5	71	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86284642	86284642	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:86284642G>C	ENST00000394518.2	+	35	8069	c.7974G>C	c.(7972-7974)caG>caC	p.Q2658H	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q2662H|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.Q903H|RP11-158M2.3_ENST00000558375.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2658	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.Q2662H(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTGCTGCCCAGAAACAGCTTG	0.627																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(7972-7974)CAG>CAC		A-kinase anchor protein 13 isoform 2							42.0	40.0	41.0					15																	86284642		2202	4299	6501	SO:0001583	missense	11214				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|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86284642G>C	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7974G>C	15.37:g.86284642G>C	ENSP00000378026:p.Gln2658His					AKAP13_uc002blu.1_Missense_Mutation_p.Q2662H|AKAP13_uc002blw.1_Missense_Mutation_p.Q1123H|AKAP13_uc002blx.1_Missense_Mutation_p.Q903H	p.Q2658H	NM_007200	NP_009131	Q12802	AKP13_HUMAN			35	8144	+			2658			Interaction with ESR1.|Potential.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.7974G>C	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412266	0.62511	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.26660	1.72;1.72;1.72	5.47	3.56	0.40772	.	.	.	.	.	T	0.28665	0.0710	M	0.77103	2.36	0.41380	D	0.987546	B;B	0.32382	0.252;0.368	B;B	0.32677	0.071;0.15	T	0.18053	-1.0349	9	0.87932	D	0	.	6.6594	0.23007	0.1463:0.0:0.7097:0.144	.	2658;2662	Q12802;Q12802-2	AKP13_HUMAN;.	H	2662;2658;2661;2637;903	ENSP00000354718:Q2662H;ENSP00000378026:Q2658H;ENSP00000378018:Q903H	ENSP00000354718:Q2662H	Q	+	3	2	AKAP13	84085646	1.000000	0.71417	0.969000	0.41365	0.767000	0.43475	1.856000	0.39389	1.280000	0.44463	0.655000	0.94253	CAG		PASS	0.627	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		23	144	23	144	---	---	---	---
TICRR	90381	broad.mit.edu	37	15	90138667	90138667	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:90138667G>T	ENST00000268138.7	+	7	1830	c.1725G>T	c.(1723-1725)atG>atT	p.M575I	TICRR_ENST00000560985.1_Missense_Mutation_p.M574I			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	575					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.M575I(1)									TGAATACCATGTGCCGTTCCT	0.488																																						uc002boe.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(1723-1725)ATG>ATT		leucine-rich repeat kinase 1							125.0	114.0	118.0					15																	90138667		1927	4132	6059	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90138667G>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1725G>T	15.37:g.90138667G>T	ENSP00000268138:p.Met575Ile						p.M575I	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		7	1725	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		575					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.1725G>T	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	31	5.098289	0.94197	.	.	ENSG00000140534	ENST00000268138	T	0.16196	2.36	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	M	0.68952	2.095	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.03684	-1.1013	10	0.37606	T	0.19	-25.9892	20.0313	0.97540	0.0:0.0:1.0:0.0	.	575	Q7Z2Z1	TICRR_HUMAN	I	575	ENSP00000268138:M575I	ENSP00000268138:M575I	M	+	3	0	C15orf42	87939671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.153000	0.94687	2.746000	0.94184	0.655000	0.94253	ATG		PASS	0.488	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		40	112	40	112	---	---	---	---
PLIN1	5346	broad.mit.edu	37	15	90210935	90210935	+	Silent	SNP	G	G	A	rs200436784		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:90210935G>A	ENST00000300055.5	-	7	1026	c.861C>T	c.(859-861)ctC>ctT	p.L287L	PLIN1_ENST00000430628.2_Silent_p.L287L	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	287					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)	p.L287L(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GGGCGGCTGCGAGGCTGTGCA	0.642													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17654	0.0		0.0	False		,,,				2504	0.0					uc010upx.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(859-861)CTC>CTT		perilipin 1		G	,	0,4394		0,0,2197	147.0	100.0	116.0		861,861	-7.7	0.0	15		116	2,8586		0,2,4292	no	coding-synonymous,coding-synonymous	PLIN1	NM_001145311.1,NM_002666.4	,	0,2,6489	AA,AG,GG		0.0233,0.0,0.0154	,	287/523,287/523	90210935	2,12980	2197	4294	6491	SO:0001819	synonymous_variant	5346				triglyceride catabolic process	lipid particle	lipid binding	g.chr15:90210935G>A	AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.861C>T	15.37:g.90210935G>A						PLIN1_uc002boh.2_Silent_p.L287L	p.L287L	NM_001145311	NP_001138783	O60240	PLIN1_HUMAN			7	971	-			287					Q8N5Y6	Silent	SNP	ENST00000300055.5	37	c.861C>T	CCDS10353.1																																																																																				PASS	0.642	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666		3	26	3	26	---	---	---	---
AP3S2	10239	broad.mit.edu	37	15	90378816	90378816	+	Silent	SNP	T	T	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:90378816T>C	ENST00000336418.4	-	6	905	c.513A>G	c.(511-513)ccA>ccG	p.P171P	AP3S2_ENST00000558011.1_Silent_p.P183P|AP3S2_ENST00000560940.1_Intron|AP3S2_ENST00000560771.1_5'UTR|C15orf38-AP3S2_ENST00000398333.3_Silent_p.P372P	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	171					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)	p.P171P(1)		NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			GAGGAATCTCTGGCAGGTTGA	0.483																																						uc002boq.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(511-513)CCA>CCG		adaptor-related protein complex 3, sigma 2							194.0	173.0	180.0					15																	90378816		2200	4299	6499	SO:0001819	synonymous_variant	10239				intracellular protein transport|vesicle-mediated transport	cytoplasmic vesicle membrane|Golgi apparatus|membrane coat	protein transporter activity	g.chr15:90378816T>C	X99459	CCDS10357.1	15q26.1	2010-08-13			ENSG00000157823	ENSG00000157823			571	protein-coding gene	gene with protein product		602416				9118953	Standard	NM_005829		Approved	sigma3b		P59780	OTTHUMG00000149811	ENST00000336418.4:c.513A>G	15.37:g.90378816T>C						AP3S2_uc002bos.3_Silent_p.P372P|AP3S2_uc010bns.2_RNA|AP3S2_uc002bor.3_RNA|AP3S2_uc010bnt.2_RNA	p.P171P	NM_005829	NP_005820	P59780	AP3S2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		6	949	-	Lung NSC(78;0.0181)|all_lung(78;0.0384)		171					B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Silent	SNP	ENST00000336418.4	37	c.513A>G	CCDS10357.1																																																																																				PASS	0.483	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313422.1			148	330	148	330	---	---	---	---
CRTC3	64784	broad.mit.edu	37	15	91181992	91181992	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:91181992C>G	ENST00000268184.6	+	13	1497	c.1493C>G	c.(1492-1494)cCa>cGa	p.P498R	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Missense_Mutation_p.P498R			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	498					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.P498R(1)	CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AACTTCTTCCCAGATGTGGGT	0.522			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	1	Substitution - Missense(1)		lung(1)	salivary_gland(26)|ovary(1)	27						c.(1492-1494)CCA>CGA		transducer of regulated CREB protein 3 isoform							125.0	114.0	118.0					15																	91181992		2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91181992C>G		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1493C>G	15.37:g.91181992C>G	ENSP00000268184:p.Pro498Arg					CRTC3_uc002bpo.2_Missense_Mutation_p.P498R	p.P498R	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		13	1599	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		498					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.1493C>G	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	7.678	0.688419	0.14973	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.11604	2.77;2.76	5.46	2.49	0.30216	.	0.763029	0.13278	N	0.399945	T	0.09202	0.0227	L	0.51422	1.61	0.27894	N	0.939223	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.33369	-0.9871	10	0.25751	T	0.34	-4.4159	4.1175	0.10088	0.1644:0.5914:0.1587:0.0855	.	498;498	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	R	462;498;498	ENSP00000268184:P498R;ENSP00000416573:P498R	ENSP00000268184:P498R	P	+	2	0	CRTC3	88982996	0.591000	0.26824	0.513000	0.27749	0.794000	0.44872	0.637000	0.24659	0.396000	0.25283	-0.218000	0.12543	CCA		PASS	0.522	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		27	345	27	345	---	---	---	---
C15orf32	145858	broad.mit.edu	37	15	93015580	93015580	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:93015580C>A	ENST00000333334.2	+	1	697	c.202C>A	c.(202-204)Cac>Aac	p.H68N	RP11-763K15.1_ENST00000554440.1_lincRNA|C15orf32_ENST00000556865.1_Missense_Mutation_p.H68N	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	68								p.H68N(1)|p.H68Y(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TGGGGTGTTGCAcccatttta	0.468																																						uc002brc.1																			2	Substitution - Missense(2)	p.H68Y(1)	ovary(1)|lung(1)	ovary(1)	1						c.(202-204)CAC>AAC		hypothetical protein LOC145858							87.0	84.0	85.0					15																	93015580		2198	4298	6496	SO:0001583	missense	145858							g.chr15:93015580C>A		CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.202C>A	15.37:g.93015580C>A	ENSP00000330267:p.His68Asn					C15orf32_uc010bod.1_RNA	p.H68N	NM_153040	NP_694585	Q32M92	CO032_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)		1	674	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		68					C5HTZ8|Q96M45	Missense_Mutation	SNP	ENST00000333334.2	37	c.202C>A	CCDS10373.1	.	.	.	.	.	.	.	.	.	.	C	0.995	-0.692627	0.03303	.	.	ENSG00000183643	ENST00000333334	T	0.53206	0.63	1.9	-1.18	0.09617	.	.	.	.	.	T	0.24353	0.0590	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.20384	0.029	T	0.20706	-1.0267	9	0.87932	D	0	.	5.1151	0.14831	0.0:0.4902:0.0:0.5098	.	68	Q32M92	CO032_HUMAN	N	68	ENSP00000330267:H68N	ENSP00000330267:H68N	H	+	1	0	C15orf32	90816584	0.002000	0.14202	0.001000	0.08648	0.000000	0.00434	-0.098000	0.11024	-0.355000	0.08199	-1.008000	0.02478	CAC		PASS	0.468	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313527.2	NM_153040		79	214	79	214	---	---	---	---
MEF2A	4205	broad.mit.edu	37	15	100214787	100214787	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr15:100214787C>T	ENST00000557785.1	+	6	929	c.580C>T	c.(580-582)Cct>Tct	p.P194S	MEF2A_ENST00000338042.6_Missense_Mutation_p.P194S|MEF2A_ENST00000449277.2_Missense_Mutation_p.P126S|MEF2A_ENST00000558812.1_Missense_Mutation_p.P126S|MEF2A_ENST00000354410.5_Missense_Mutation_p.P196S|MEF2A_ENST00000453228.2_Missense_Mutation_p.P194S|MEF2A_ENST00000557942.1_Missense_Mutation_p.P194S	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	196					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)	p.P196S(2)|p.P194S(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TCCTGGAGCTCCTCAGAGACC	0.433																																						uc010urw.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(586-588)CCT>TCT		myocyte enhancer factor 2A isoform 1							132.0	125.0	127.0					15																	100214787		1900	4129	6029	SO:0001583	missense	4205				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100214787C>T		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.580C>T	15.37:g.100214787C>T	ENSP00000453441:p.Pro194Ser					MEF2A_uc010urv.1_Missense_Mutation_p.P126S|MEF2A_uc010bos.2_Missense_Mutation_p.P194S|MEF2A_uc002bvf.2_Missense_Mutation_p.P196S|MEF2A_uc002bve.2_Missense_Mutation_p.P194S|MEF2A_uc002bvg.2_Missense_Mutation_p.P194S|MEF2A_uc002bvi.2_Missense_Mutation_p.P194S|MEF2A_uc010bot.2_Missense_Mutation_p.P126S	p.P196S	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		5	945	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		196					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.586C>T	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268027	0.59540	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T;T	0.62232	0.04;0.16;0.06;0.96	5.34	5.34	0.76211	.	0.155915	0.64402	D	0.000016	T	0.79476	0.4452	M	0.75615	2.305	0.38858	D	0.956427	B;B;D;D;B;D	0.89917	0.075;0.189;0.999;1.0;0.123;0.999	B;B;D;D;B;D	0.91635	0.081;0.222;0.993;0.999;0.169;0.997	T	0.82802	-0.0277	10	0.72032	D	0.01	-16.1196	17.2008	0.86906	0.0:1.0:0.0:0.0	.	196;126;115;194;196;194	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	S	194;196;194;126	ENSP00000404110:P194S;ENSP00000346389:P196S;ENSP00000337202:P194S;ENSP00000399460:P126S	ENSP00000337202:P194S	P	+	1	0	MEF2A	98032310	0.999000	0.42202	0.998000	0.56505	0.995000	0.86356	4.270000	0.58896	2.487000	0.83934	0.591000	0.81541	CCT		PASS	0.433	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			52	307	52	307	---	---	---	---
BAIAP3	8938	broad.mit.edu	37	16	1398482	1398482	+	Nonstop_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:1398482G>C	ENST00000324385.5	+	34	3721	c.3563G>C	c.(3562-3564)tGa>tCa	p.*1188S	BAIAP3_ENST00000397489.1_Nonstop_Mutation_p.*1170S|BAIAP3_ENST00000397488.2_Nonstop_Mutation_p.*1170S|BAIAP3_ENST00000568887.1_Nonstop_Mutation_p.*1125S|BAIAP3_ENST00000426824.3_Nonstop_Mutation_p.*1153S|BAIAP3_ENST00000562208.1_Nonstop_Mutation_p.*1130S|BAIAP3_ENST00000421665.2_Nonstop_Mutation_p.*1117S	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	0					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.*1188S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCGGACCCCTGAGTCCATCAG	0.642																																						uc002clk.1																			1	Nonstop extension(1)		lung(1)	pancreas(1)	1						c.(3562-3564)TGA>TCA		BAI1-associated protein 3							48.0	47.0	48.0					16																	1398482		2189	4295	6484	SO:0001578	stop_lost	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1398482G>C	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3563G>C	16.37:g.1398482G>C	ENSP00000324510:p.*1188Serext*39					BAIAP3_uc002clj.2_Nonstop_Mutation_p.*1170S|BAIAP3_uc010uuz.1_Nonstop_Mutation_p.*1153S|BAIAP3_uc010uva.1_Nonstop_Mutation_p.*1125S|BAIAP3_uc010uvc.1_Nonstop_Mutation_p.*1117S	p.*1188S	NM_003933	NP_003924	O94812	BAIP3_HUMAN			34	3563	+		Hepatocellular(780;0.0893)	1188					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Nonstop_Mutation	SNP	ENST00000324385.5	37	c.3563G>C	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	2.967	-0.213267	0.06140	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	.	.	.	4.49	3.53	0.40419	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8033	0.34923	0.1083:0.0:0.8917:0.0	.	.	.	.	S	1153;1170;1188;1170;1117	.	.	X	+	2	2	BAIAP3	1338483	1.000000	0.71417	0.993000	0.49108	0.334000	0.28698	0.985000	0.29578	1.001000	0.39076	-0.350000	0.07774	TGA		PASS	0.642	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			4	33	4	33	---	---	---	---
C16orf91	283951	broad.mit.edu	37	16	1470348	1470348	+	Missense_Mutation	SNP	C	C	T	rs199709082		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:1470348C>T	ENST00000442039.2	-	2	374	c.298G>A	c.(298-300)Gag>Aag	p.E100K	C16orf91_ENST00000563974.1_Missense_Mutation_p.E33K|C16orf91_ENST00000310355.1_Missense_Mutation_p.E257K	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	100						integral component of membrane (GO:0016021)		p.E257K(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TGGTCCGCCTCGCTCTCCTCC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18553	0.0		0.001	False		,,,				2504	0.0					uc002clr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)GAG>AAG		hypothetical protein LOC283951							108.0	111.0	110.0					16																	1470348		2199	4300	6499	SO:0001583	missense	283951					integral to membrane		g.chr16:1470348C>T	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.298G>A	16.37:g.1470348C>T	ENSP00000413100:p.Glu100Lys					C16orf91_uc010uvd.1_Missense_Mutation_p.E257K	p.E100K	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN			2	319	-			100			Cytoplasmic (Potential).		Q96RZ0	Missense_Mutation	SNP	ENST00000442039.2	37	c.298G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.80	2.047026	0.36085	.	.	ENSG00000174109	ENST00000442039;ENST00000310355	.	.	.	5.31	-4.92	0.03075	.	1.014320	0.07927	N	0.976829	T	0.27278	0.0669	.	.	.	0.09310	N	1	P	0.36660	0.564	B	0.28011	0.085	T	0.20538	-1.0272	8	0.59425	D	0.04	0.2108	12.4959	0.55927	0.0:0.5214:0.0:0.4786	.	100	Q4G0I0	CSMT1_HUMAN	K	100;257	.	ENSP00000311390:E257K	E	-	1	0	C16orf91	1410349	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.143000	0.03200	-0.819000	0.04323	-0.140000	0.14226	GAG		PASS	0.612	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432502.1	NM_001010878		74	308	74	308	---	---	---	---
CRAMP1L	57585	broad.mit.edu	37	16	1706267	1706267	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:1706267G>C	ENST00000397412.3	+	10	1608	c.1509G>C	c.(1507-1509)ttG>ttC	p.L503F	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.L500F|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.L503F|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000262317.4_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	503				L -> S (in Ref. 4; BAA92664). {ECO:0000305}.		nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L503F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CCCTAAGCTTGAGCAGCCCGG	0.697																																						uc010uvh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1507-1509)TTG>TTC		Crm, cramped-like							13.0	17.0	16.0					16																	1706267		1849	4025	5874	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1706267G>C	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1509G>C	16.37:g.1706267G>C	ENSP00000380559:p.Leu503Phe					CRAMP1L_uc002cmf.2_Intron	p.L503F	NM_020825	NP_065876	Q96RY5	CRML_HUMAN			9	1509	+			503	L -> S (in Ref. 4; BAA92664).				A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.1509G>C	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	3.933	-0.015728	0.07681	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	4.75	-1.37	0.09056	.	0.386849	0.24604	N	0.037106	T	0.24812	0.0602	N	0.12746	0.255	0.80722	D	1	B	0.18166	0.026	B	0.22601	0.04	T	0.02288	-1.1182	9	0.23891	T	0.37	-17.1473	2.9581	0.05883	0.0943:0.3857:0.2152:0.3048	.	503	Q96RY5	CRML_HUMAN	F	503;503;500	.	ENSP00000293925:L503F	L	+	3	2	CRAMP1L	1646268	0.196000	0.23350	0.905000	0.35620	0.003000	0.03518	-0.177000	0.09796	-0.028000	0.13850	-0.136000	0.14681	TTG		PASS	0.697	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			6	35	6	35	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20395969	20395969	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:20395969T>A	ENST00000302451.4	-	3	655	c.407A>T	c.(406-408)aAa>aTa	p.K136I	RP11-429K17.1_ENST00000577173.1_RNA	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	136					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.K136I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ACCATTACCTTTGCAGCTGAT	0.493																																						uc002dhc.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(406-408)AAA>ATA		protein disulfide isomerase-like, testis							128.0	126.0	127.0					16																	20395969		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20395969T>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.407A>T	16.37:g.20395969T>A	ENSP00000305465:p.Lys136Ile						p.K136I	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			3	630	-			136					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.407A>T	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	T	17.51	3.406619	0.62399	.	.	ENSG00000169340	ENST00000302451	T	0.03524	3.9	5.43	3.15	0.36227	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.907335	0.09818	N	0.751915	T	0.08714	0.0216	L	0.43152	1.355	0.28791	N	0.899297	D	0.54397	0.966	P	0.58331	0.837	T	0.26677	-1.0096	10	0.51188	T	0.08	.	5.8525	0.18701	0.0:0.2046:0.0:0.7954	.	136	Q8N807	PDILT_HUMAN	I	136	ENSP00000305465:K136I	ENSP00000305465:K136I	K	-	2	0	PDILT	20303470	0.931000	0.31567	0.810000	0.32431	0.736000	0.42039	1.396000	0.34531	1.084000	0.41184	0.533000	0.62120	AAA		PASS	0.493	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		27	395	27	395	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20554476	20554476	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:20554476C>T	ENST00000329697.6	-	11	1558	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	ACSM2B_ENST00000565232.1_Missense_Mutation_p.D464N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.D385N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D464N|ACSM2B_ENST00000567288.1_5'Flank	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	464					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.D464N(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTAATGATATCATCTGCCCGT	0.507																																						uc002dhj.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1390-1392)GAT>AAT		acyl-CoA synthetase medium-chain family member							344.0	362.0	356.0					16																	20554476		2200	4299	6499	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554476C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1390G>A	16.37:g.20554476C>T	ENSP00000327453:p.Asp464Asn					ACSM2B_uc002dhk.3_Missense_Mutation_p.D464N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D464N	p.D464N	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			12	1600	-			464					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1390G>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259065	0.39896	.	.	ENSG00000066813	ENST00000329697	T	0.58797	0.31	3.1	2.13	0.27403	AMP-dependent synthetase/ligase (1);	0.000000	0.44285	U	0.000468	T	0.71600	0.3359	M	0.74647	2.275	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.72805	-0.4182	10	0.87932	D	0	-1.4787	10.0092	0.41975	0.0:0.8952:0.0:0.1048	.	464;464	A8K051;Q68CK6	.;ACS2B_HUMAN	N	464	ENSP00000327453:D464N	ENSP00000327453:D464N	D	-	1	0	ACSM2B	20461977	1.000000	0.71417	0.995000	0.50966	0.225000	0.24961	5.806000	0.69150	0.644000	0.30656	-0.357000	0.07601	GAT		PASS	0.507	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		71	782	71	782	---	---	---	---
ACSM3	6296	broad.mit.edu	37	16	20788787	20788787	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:20788787G>C	ENST00000289416.5	+	4	998	c.523G>C	c.(523-525)Gat>Cat	p.D175H	ACSM3_ENST00000450120.2_Missense_Mutation_p.D130H|ACSM3_ENST00000440284.2_Missense_Mutation_p.D175H	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	175					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.D175H(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TATCACCAATGATGTTTTAGC	0.453																																						uc002dhr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(523-525)GAT>CAT		SA hypertension-associated homolog isoform 1							90.0	84.0	86.0					16																	20788787		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20788787G>C	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.523G>C	16.37:g.20788787G>C	ENSP00000289416:p.Asp175His					ACSM3_uc002dhq.2_Missense_Mutation_p.D175H|ACSM3_uc010vba.1_Missense_Mutation_p.D167H	p.D175H	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN			4	710	+			175					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.523G>C	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041268	0.35989	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.53423	0.62;0.62;0.62	6.05	5.09	0.68999	AMP-dependent synthetase/ligase (1);	0.226627	0.43747	D	0.000535	T	0.61664	0.2365	L	0.48986	1.54	0.47698	D	0.999492	D;D;D	0.71674	0.998;0.994;0.998	D;D;D	0.74023	0.982;0.93;0.973	T	0.63963	-0.6518	10	0.62326	D	0.03	-17.3392	12.9672	0.58492	0.0:0.1241:0.7468:0.1291	.	130;175;175	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	H	175;175;130	ENSP00000289416:D175H;ENSP00000394565:D175H;ENSP00000395297:D130H	ENSP00000289416:D175H	D	+	1	0	ACSM3	20696288	1.000000	0.71417	0.094000	0.20943	0.001000	0.01503	5.156000	0.64905	1.551000	0.49450	-0.188000	0.12872	GAT		PASS	0.453	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		27	110	27	110	---	---	---	---
OTOA	146183	broad.mit.edu	37	16	21693107	21693107	+	Silent	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:21693107G>C	ENST00000286149.4	+	5	229	c.228G>C	c.(226-228)ctG>ctC	p.L76L	OTOA_ENST00000388956.4_5'Flank|OTOA_ENST00000388958.3_Silent_p.L76L			Q7RTW8	OTOAN_HUMAN	otoancorin	76					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.L76L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TGGCCTATCTGAATTCCCGGA	0.512																																						uc002djh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(226-228)CTG>CTC		otoancorin isoform 1							184.0	134.0	151.0					16																	21693107		2199	4300	6499	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21693107G>C	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.228G>C	16.37:g.21693107G>C						uc002diq.3_Intron|OTOA_uc010vbj.1_5'Flank	p.L76L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	5	229	+			76					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.228G>C																																																																																					PASS	0.512	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			9	139	9	139	---	---	---	---
SCNN1G	6340	broad.mit.edu	37	16	23226587	23226587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:23226587G>T	ENST00000300061.2	+	13	1890	c.1747G>T	c.(1747-1749)Gaa>Taa	p.E583*	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	583					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.E583*(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCCATGTCCAGAAGCTCCCCG	0.572																																						uc002dlm.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(1747-1749)GAA>TAA		sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)						103.0	98.0	100.0					16																	23226587		2197	4300	6497	SO:0001587	stop_gained	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226587G>T	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1747G>T	16.37:g.23226587G>T	ENSP00000300061:p.Glu583*						p.E583*	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	13	1886	+			583			Cytoplasmic (By similarity).		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Nonsense_Mutation	SNP	ENST00000300061.2	37	c.1747G>T	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114345	0.77210	.	.	ENSG00000166828	ENST00000300061	.	.	.	5.01	5.01	0.66863	.	0.503506	0.19826	N	0.105198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-10.4588	12.4158	0.55492	0.0:0.0:0.832:0.168	.	.	.	.	X	583	.	ENSP00000300061:E583X	E	+	1	0	SCNN1G	23134088	0.001000	0.12720	0.016000	0.15963	0.089000	0.18198	0.747000	0.26290	2.289000	0.77006	0.561000	0.74099	GAA		PASS	0.572	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		9	218	9	218	---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24980063	24980063	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:24980063C>G	ENST00000289968.6	-	5	372	c.303G>C	c.(301-303)gaG>gaC	p.E101D	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.E101D|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.E101D	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	101	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)	p.E101D(2)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCAGCTGATTCTCAGCATCTC	0.517																																						uc002dnb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(301-303)GAG>GAC		nadrin isoform 1							97.0	82.0	87.0					16																	24980063		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24980063C>G	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.303G>C	16.37:g.24980063C>G	ENSP00000289968:p.Glu101Asp					ARHGAP17_uc002dnc.2_Missense_Mutation_p.E101D|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dnf.2_Missense_Mutation_p.E9D|ARHGAP17_uc002dng.1_Missense_Mutation_p.E101D	p.E101D	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	5	396	-			101			BAR.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.303G>C	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135523	0.77662	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.65732	-0.17;-0.17;-0.17	5.85	5.85	0.93711	BAR (3);	0.160168	0.29493	N	0.011997	T	0.77538	0.4145	M	0.82517	2.595	0.48696	D	0.999694	P;D;P;D	0.59357	0.929;0.985;0.592;0.985	P;P;B;P	0.57502	0.452;0.822;0.169;0.822	T	0.74884	-0.3512	10	0.30854	T	0.27	.	18.0311	0.89285	0.0:1.0:0.0:0.0	.	101;101;101;101	Q68EM7-4;C9IZD3;Q68EM7-2;Q68EM7	.;.;.;RHG17_HUMAN	D	101	ENSP00000289968:E101D;ENSP00000303130:E101D;ENSP00000406950:E101D	ENSP00000289968:E101D	E	-	3	2	ARHGAP17	24887564	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.446000	0.66600	2.932000	0.99384	0.643000	0.83706	GAG		PASS	0.517	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		26	161	26	161	---	---	---	---
HS3ST4	9951	broad.mit.edu	37	16	26147491	26147491	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:26147491C>A	ENST00000331351.5	+	2	1685	c.1293C>A	c.(1291-1293)ttC>ttA	p.F431L	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	431					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.F431L(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TGAGGAAATTCTACAAACCCT	0.488																																						uc002dof.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|breast(1)	2						c.(1291-1293)TTC>TTA		heparan sulfate D-glucosaminyl							53.0	48.0	50.0					16																	26147491		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147491C>A	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1293C>A	16.37:g.26147491C>A	ENSP00000330606:p.Phe431Leu						p.F431L	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1685	+			431			Lumenal (Potential).		Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.1293C>A	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481533	0.84747	.	.	ENSG00000182601	ENST00000331351	T	0.55930	0.49	5.56	4.52	0.55395	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	T	0.65260	0.2674	M	0.72353	2.195	0.53688	D	0.999974	D	0.89917	1.0	D	0.85130	0.997	T	0.68432	-0.5410	10	0.87932	D	0	.	4.1153	0.10079	0.0:0.6987:0.0:0.3013	.	431	Q9Y661	HS3S4_HUMAN	L	431	ENSP00000330606:F431L	ENSP00000330606:F431L	F	+	3	2	HS3ST4	26054992	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.161000	0.42358	2.602000	0.87976	0.655000	0.94253	TTC		PASS	0.488	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		5	39	5	39	---	---	---	---
ZNF689	115509	broad.mit.edu	37	16	30616764	30616764	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:30616764G>A	ENST00000287461.3	-	3	661	c.324C>T	c.(322-324)agC>agT	p.S108S	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	108					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S108S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			TTCTGGTTCTGCTTTCTATAG	0.478																																						uc002dyx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(322-324)AGC>AGT		zinc finger protein HIT-39							45.0	50.0	48.0					16																	30616764		1959	4015	5974	SO:0001819	synonymous_variant	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30616764G>A	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.324C>T	16.37:g.30616764G>A						ZNF689_uc010bzy.2_5'UTR	p.S108S	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		3	644	-			108					Q658J5	Silent	SNP	ENST00000287461.3	37	c.324C>T	CCDS10686.1																																																																																				PASS	0.478	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		15	310	15	310	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30721048	30721048	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:30721048A>T	ENST00000262518.4	+	7	1233	c.848A>T	c.(847-849)gAt>gTt	p.D283V	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.D283V|SRCAP_ENST00000344771.4_Missense_Mutation_p.D283V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	283					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.D283V(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCTCGCCTGGATGATGAAGGT	0.562																																						uc002dze.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(847-849)GAT>GTT		Snf2-related CBP activator protein							71.0	63.0	66.0					16																	30721048		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30721048A>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.848A>T	16.37:g.30721048A>T	ENSP00000262518:p.Asp283Val					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.D140V|SRCAP_uc010bzz.1_5'Flank|SNORA30_uc002dzh.1_5'Flank	p.D283V	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		7	1233	+			283					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.848A>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950043	0.34377	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92199	-2.99;-2.96;-2.92	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000010	D	0.93070	0.7794	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.67382	0.951;0.861	D	0.92467	0.5982	10	0.42905	T	0.14	-12.5117	11.9721	0.53069	0.8553:0.1447:0.0:0.0	.	283;283	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	V	283	ENSP00000262518:D283V;ENSP00000378499:D283V;ENSP00000343042:D283V	ENSP00000262518:D283V	D	+	2	0	SRCAP	30628549	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.182000	0.65059	2.317000	0.78254	0.459000	0.35465	GAT		PASS	0.562	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		28	199	28	199	---	---	---	---
KAT8	84148	broad.mit.edu	37	16	31131554	31131554	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:31131554G>C	ENST00000543774.2	+	3	594	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	KAT8_ENST00000448516.2_Missense_Mutation_p.E87Q|RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000219797.4_Missense_Mutation_p.E87Q			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	87	Chromo.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)	p.E87Q(1)									GGAGGGCCGAGAGGAATTCTA	0.542																																						uc002eay.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(259-261)GAG>CAG		MYST histone acetyltransferase 1 isoform 1							155.0	140.0	145.0					16																	31131554		2197	4300	6497	SO:0001583	missense	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31131554G>C	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.259G>C	16.37:g.31131554G>C	ENSP00000456933:p.Glu87Gln					MYST1_uc002eax.2_Missense_Mutation_p.E87Q	p.E87Q	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN			2	277	+			87			Chromo.		A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	ENST00000543774.2	37	c.259G>C	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045503	0.55110	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	T;T	0.42131	0.98;0.98	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	N	0.12182	0.205	0.80722	D	1	B;B	0.11235	0.004;0.003	B;B	0.16722	0.016;0.009	T	0.06607	-1.0817	10	0.23302	T	0.38	-43.2212	18.8899	0.92395	0.0:0.0:1.0:0.0	.	87;87	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	Q	87	ENSP00000219797:E87Q;ENSP00000406037:E87Q	ENSP00000219797:E87Q	E	+	1	0	KAT8	31039055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.961000	0.76042	2.769000	0.95229	0.655000	0.94253	GAG		PASS	0.542	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188		14	315	14	315	---	---	---	---
TGFB1I1	7041	broad.mit.edu	37	16	31488639	31488639	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:31488639C>T	ENST00000394863.3	+	11	1258	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	TGFB1I1_ENST00000361773.3_Silent_p.F359F|TGFB1I1_ENST00000394858.2_Silent_p.F359F|TGFB1I1_ENST00000567607.1_Silent_p.F359F	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	376	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.F376F(1)|p.F359F(1)		lung(8)|upper_aerodigestive_tract(1)	9						AGGAATGCTTCGCGCCCTTCT	0.662																																						uc002ecd.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(1126-1128)TTC>TTT		transforming growth factor beta 1 induced							25.0	23.0	24.0					16																	31488639		2192	4287	6479	SO:0001819	synonymous_variant	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31488639C>T	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.1128C>T	16.37:g.31488639C>T						TGFB1I1_uc002ece.1_Silent_p.F359F|TGFB1I1_uc010caq.1_Silent_p.F215F	p.F376F	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN			11	1154	+			376			LIM zinc-binding 3.		B2R8D5|Q9BPW3|Q9Y2V5	Silent	SNP	ENST00000394863.3	37	c.1128C>T	CCDS42156.1																																																																																				PASS	0.662	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			13	46	13	46	---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31927420	31927420	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:31927420C>G	ENST00000300870.10	+	4	2059	c.1850C>G	c.(1849-1851)tCa>tGa	p.S617*		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	617					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S617*(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AGTTATAGTTCAGATGTTATT	0.418																																						uc002ecs.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1849-1851)TCA>TGA		zinc finger protein 267							75.0	78.0	77.0					16																	31927420		2197	4300	6497	SO:0001587	stop_gained	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927420C>G	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1850C>G	16.37:g.31927420C>G	ENSP00000300870:p.Ser617*						p.S617*	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	2059	+			617			C2H2-type 11.		A0JNZ9|Q8NE41|Q9NRJ0	Nonsense_Mutation	SNP	ENST00000300870.10	37	c.1850C>G	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	17.48	3.400015	0.62177	.	.	ENSG00000185947	ENST00000300870	.	.	.	0.468	-0.935	0.10423	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.7903	0.18357	0.0:0.3611:0.6388:0.0	.	.	.	.	X	617	.	ENSP00000300870:S617X	S	+	2	0	ZNF267	31834921	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.011000	0.13264	-0.479000	0.06813	-0.479000	0.04858	TCA		PASS	0.418	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		8	91	8	91	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48149494	48149494	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:48149494C>G	ENST00000311303.3	-	13	2166	c.1821G>C	c.(1819-1821)caG>caC	p.Q607H	ABCC12_ENST00000448542.1_Missense_Mutation_p.Q607H|ABCC12_ENST00000416054.1_Missense_Mutation_p.R583T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	607	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.Q607H(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCCTCTGCCTCTGCCCCCCAG	0.642																																						uc002efc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1819-1821)CAG>CAC		ATP-binding cassette protein C12							48.0	44.0	45.0					16																	48149494		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48149494C>G	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1821G>C	16.37:g.48149494C>G	ENSP00000311030:p.Gln607His					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.Q607H	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			13	2167	-		all_cancers(37;0.0474)|all_lung(18;0.047)	607			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1821G>C	CCDS10730.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.19|18.19	3.568562|3.568562	0.65651|0.65651	.|.	.|.	ENSG00000140798|ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939|ENST00000416054	D;D|D	0.93133|0.92545	-3.17;-3.17|-3.06	5.09|5.09	4.12|4.12	0.48240|0.48240	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.97411|0.97411	0.9153|0.9153	H|H	0.98754|0.98754	4.32|4.32	0.46028|0.46028	D|D	0.99882|0.99882	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.97140|0.97140	0.9824|0.9824	10|7	0.87932|0.87932	D|D	0|0	.|.	9.903|9.903	0.41359|0.41359	0.0:0.8361:0.0:0.1639|0.0:0.8361:0.0:0.1639	.|.	607|.	Q96J65|.	MRP9_HUMAN|.	H|T	607;607;549|583	ENSP00000311030:Q607H;ENSP00000401855:Q607H|ENSP00000413046:R583T	ENSP00000311030:Q607H|ENSP00000413046:R583T	Q|R	-|-	3|2	2|0	ABCC12|ABCC12	46706995|46706995	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.641000|0.641000	0.38312|0.38312	2.475000|2.475000	0.45162|0.45162	2.512000|2.512000	0.84698|0.84698	0.563000|0.563000	0.77884|0.77884	CAG|AGA		PASS	0.642	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		14	61	14	61	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48204038	48204038	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:48204038C>T	ENST00000394747.1	-	27	4218	c.3869G>A	c.(3868-3870)aGg>aAg	p.R1290K	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1290K|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1290K|RP11-3M1.1_ENST00000563906.1_RNA|ABCC11_ENST00000353782.5_Intron	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1290	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.R1290K(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AAGCACAGCCCTGGCAATGCA	0.572																																						uc002eff.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3868-3870)AGG>AAG		ATP-binding cassette, sub-family C, member 11							128.0	133.0	131.0					16																	48204038		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48204038C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3869G>A	16.37:g.48204038C>T	ENSP00000378230:p.Arg1290Lys					ABCC11_uc002efg.1_Missense_Mutation_p.R1290K|ABCC11_uc002efh.1_Intron|ABCC11_uc010cbg.1_RNA	p.R1290K	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			27	4219	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	1290			ABC transporter 2.|Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.3869G>A	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190518	0.58017	.	.	ENSG00000121270	ENST00000356608;ENST00000394748;ENST00000394747	D;D;D	0.94897	-3.55;-3.55;-3.55	4.88	3.93	0.45458	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.231186	0.36066	N	0.002818	D	0.97294	0.9115	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96993	0.9723	10	0.87932	D	0	-5.3255	9.1268	0.36821	0.0:0.8971:0.0:0.1029	.	1290	Q96J66	ABCCB_HUMAN	K	1290	ENSP00000349017:R1290K;ENSP00000378231:R1290K;ENSP00000378230:R1290K	ENSP00000349017:R1290K	R	-	2	0	ABCC11	46761539	0.819000	0.29175	0.005000	0.12908	0.104000	0.19210	4.338000	0.59316	1.061000	0.40601	0.650000	0.86243	AGG		PASS	0.572	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		60	201	60	201	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49669853	49669853	+	Silent	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:49669853G>C	ENST00000561648.1	-	4	3263	c.3210C>G	c.(3208-3210)ctC>ctG	p.L1070L	ZNF423_ENST00000535559.1_Silent_p.L953L|ZNF423_ENST00000567169.1_Silent_p.L953L|ZNF423_ENST00000562520.1_Silent_p.L1010L|ZNF423_ENST00000562871.1_Silent_p.L1010L|ZNF423_ENST00000563137.2_Silent_p.L1010L|ZNF423_ENST00000262383.2_Silent_p.L1070L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1070					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L1070L(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGAACTCCTTGAGGCACAGGG	0.657																																						uc002efs.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(3208-3210)CTC>CTG		zinc finger protein 423							29.0	27.0	28.0					16																	49669853		2199	4300	6499	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669853G>C	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3210C>G	16.37:g.49669853G>C						ZNF423_uc010vgn.1_Silent_p.L953L	p.L1070L	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	3508	-		all_cancers(37;0.0155)	1070			C2H2-type 25; degenerate.		O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.3210C>G	CCDS32445.1																																																																																				PASS	0.657	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		13	56	13	56	---	---	---	---
RPGRIP1L	23322	broad.mit.edu	37	16	53671722	53671722	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:53671722C>G	ENST00000379925.3	-	21	3155	c.3105G>C	c.(3103-3105)gaG>gaC	p.E1035D	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E1001D|RPGRIP1L_ENST00000568009.1_5'UTR|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.E1001D|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E1035D	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1035					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.E1035D(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCTGCATTTTCTCAGTATTCT	0.363																																						uc002ehp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3103-3105)GAG>GAC		RPGRIP1-like isoform a							150.0	139.0	142.0					16																	53671722		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53671722C>G		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3105G>C	16.37:g.53671722C>G	ENSP00000369257:p.Glu1035Asp					RPGRIP1L_uc002eho.3_Missense_Mutation_p.E1001D|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.E1035D|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.E1001D|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.E1035D	p.E1035D	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			21	3169	-		all_cancers(37;0.0973)	1035					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.3105G>C	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707656	0.15239	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.77098	-0.91;-1.07	5.26	3.04	0.35103	.	1.014360	0.07888	N	0.970664	T	0.55289	0.1911	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.11235	0.002;0.002;0.004;0.002	B;B;B;B	0.09377	0.003;0.003;0.003;0.004	T	0.38628	-0.9652	10	0.29301	T	0.29	-4.8001	8.4252	0.32725	0.0:0.6106:0.2619:0.1275	.	1035;1035;1035;1001	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	D	1035;1001	ENSP00000369257:E1035D;ENSP00000262135:E1001D	ENSP00000262135:E1001D	E	-	3	2	RPGRIP1L	52229223	0.007000	0.16637	0.528000	0.27938	0.766000	0.43426	0.828000	0.27435	2.457000	0.83068	0.655000	0.94253	GAG		PASS	0.363	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		18	212	18	212	---	---	---	---
IRX3	79191	broad.mit.edu	37	16	54319207	54319207	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:54319207G>C	ENST00000329734.3	-	2	1298	c.586C>G	c.(586-588)Cgc>Ggc	p.R196G		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	196					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R196G(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GTGCGGCTGCGAGGCGCCCAA	0.622																																					GBM(143;1830 1866 4487 4646 37383)	uc002eht.1																			1	Substitution - Missense(1)		lung(1)		0						c.(586-588)CGC>GGC		iroquois homeobox 3							65.0	56.0	59.0					16																	54319207		2198	4300	6498	SO:0001583	missense	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54319207G>C	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.586C>G	16.37:g.54319207G>C	ENSP00000331608:p.Arg196Gly						p.R196G	NM_024336	NP_077312	P78415	IRX3_HUMAN			2	1002	-			196					Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	c.586C>G	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.363520	0.24684	.	.	ENSG00000177508	ENST00000329734	T	0.60548	0.18	4.44	3.47	0.39725	Homeodomain-related (1);	0.063539	0.64402	D	0.000007	T	0.52757	0.1754	L	0.59912	1.85	0.45690	D	0.998608	B	0.29341	0.242	B	0.34346	0.18	T	0.55636	-0.8110	10	0.87932	D	0	-7.6694	7.435	0.27150	0.0:0.1857:0.6223:0.192	.	196	P78415	IRX3_HUMAN	G	196	ENSP00000331608:R196G	ENSP00000331608:R196G	R	-	1	0	IRX3	52876708	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	1.875000	0.39578	1.063000	0.40649	-0.302000	0.09304	CGC		PASS	0.622	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			10	67	10	67	---	---	---	---
CAPNS2	84290	broad.mit.edu	37	16	55601347	55601347	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:55601347G>C	ENST00000457326.2	+	1	764	c.679G>C	c.(679-681)Gat>Cat	p.D227H	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	227	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.D227H(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						CAAGTCTCTGGATAGAGATAG	0.463																																						uc002eid.1																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)GAT>CAT		calpain small subunit 2							153.0	149.0	151.0					16																	55601347		1970	4162	6132	SO:0001583	missense	84290					cytoplasm|plasma membrane	calcium ion binding	g.chr16:55601347G>C	AY052551	CCDS54010.1	16q12.2	2013-01-10						"""EF-hand domain containing"""	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.679G>C	16.37:g.55601347G>C	ENSP00000400882:p.Asp227His					LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron	p.D227H	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN			1	764	+			227			EF-hand 4.		Q9BPV4	Missense_Mutation	SNP	ENST00000457326.2	37	c.679G>C	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189481	0.57909	.	.	ENSG00000256812	ENST00000457326	T	0.56275	0.47	5.98	5.98	0.97165	EF-hand-like domain (1);	.	.	.	.	T	0.79610	0.4475	M	0.89904	3.07	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.82416	-0.0468	9	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	227	Q96L46	CPNS2_HUMAN	H	227	ENSP00000400882:D227H	ENSP00000400882:D227H	D	+	1	0	CAPNS2	54158848	1.000000	0.71417	0.999000	0.59377	0.495000	0.33615	6.375000	0.73137	2.835000	0.97688	0.650000	0.86243	GAT		PASS	0.463	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	NM_032330		42	226	42	226	---	---	---	---
TEPP	374739	broad.mit.edu	37	16	58010447	58010447	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:58010447C>T	ENST00000441824.2	+	1	109	c.72C>T	c.(70-72)ttC>ttT	p.F24F	TEPP_ENST00000290871.5_Silent_p.F24F	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	24						extracellular region (GO:0005576)		p.F24F(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						CACCTCCCTTCCTCTTCTGCC	0.512																																						uc002emw.3																			1	Substitution - coding silent(1)		lung(1)	kidney(1)|central_nervous_system(1)|skin(1)	3						c.(70-72)TTC>TTT		testis/prostate/placenta-expressed protein							211.0	156.0	175.0					16																	58010447		2198	4300	6498	SO:0001819	synonymous_variant	374739					extracellular region		g.chr16:58010447C>T	BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.72C>T	16.37:g.58010447C>T						TEPP_uc002emv.3_Silent_p.F24F	p.F24F	NM_199456	NP_955535	Q6URK8	TEPP_HUMAN			1	109	+			24					Q6URK7	Silent	SNP	ENST00000441824.2	37	c.72C>T	CCDS45496.1																																																																																				PASS	0.512	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000431966.1	NM_199456		26	221	26	221	---	---	---	---
KIAA0895L	653319	broad.mit.edu	37	16	67214260	67214260	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:67214260G>C	ENST00000290881.7	-	3	1180	c.254C>G	c.(253-255)tCt>tGt	p.S85C	KIAA0895L_ENST00000561621.1_Missense_Mutation_p.S85C|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.S85C			Q68EN5	K895L_HUMAN	KIAA0895-like	85								p.S85C(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						ACTATTTACAGAGTAGGTGCT	0.697																																						uc002ert.2																			1	Substitution - Missense(1)		lung(1)		0						c.(253-255)TCT>TGT		hypothetical protein LOC653319							15.0	20.0	18.0					16																	67214260		1974	4134	6108	SO:0001583	missense	653319							g.chr16:67214260G>C	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.254C>G	16.37:g.67214260G>C	ENSP00000290881:p.Ser85Cys					KIAA0895L_uc002err.2_5'Flank|KIAA0895L_uc002ers.2_5'Flank|KIAA0895L_uc002eru.2_Missense_Mutation_p.S85C|EXOC3L_uc002erv.1_RNA	p.S85C	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN			2	1029	-			85					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Missense_Mutation	SNP	ENST00000290881.7	37	c.254C>G	CCDS42177.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968179	0.53614	.	.	ENSG00000196123	ENST00000290881	.	.	.	4.6	2.54	0.30619	.	0.540048	0.19464	N	0.113623	T	0.48114	0.1482	L	0.43152	1.355	0.33195	D	0.551427	D;B	0.60575	0.988;0.39	P;B	0.50378	0.639;0.224	T	0.62548	-0.6831	9	0.62326	D	0.03	-6.1407	12.5022	0.55962	0.0:0.3366:0.6634:0.0	.	85;85	Q68EN5-2;Q68EN5	.;K895L_HUMAN	C	85	.	ENSP00000290881:S85C	S	-	2	0	KIAA0895L	65771761	1.000000	0.71417	0.847000	0.33407	0.952000	0.60782	4.062000	0.57492	0.600000	0.29862	0.650000	0.86243	TCT		PASS	0.697	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		4	56	4	56	---	---	---	---
RLTPR	146206	broad.mit.edu	37	16	67688560	67688560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:67688560G>T	ENST00000334583.6	+	31	3875	c.3547G>T	c.(3547-3549)Gag>Tag	p.E1183*	RLTPR_ENST00000545661.1_Nonsense_Mutation_p.E1147*	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1183					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.E1183*(1)|p.E1223*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCTGCCTGCCGAGGAGGAGGC	0.652																																						uc002etn.2																			2	Substitution - Nonsense(2)		lung(2)	breast(1)	1						c.(3547-3549)GAG>TAG		RGD motif, leucine rich repeats, tropomodulin							26.0	30.0	29.0					16																	67688560		2065	4198	6263	SO:0001587	stop_gained	146206							g.chr16:67688560G>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3547G>T	16.37:g.67688560G>T	ENSP00000334958:p.Glu1183*					RLTPR_uc010vjr.1_Nonsense_Mutation_p.E1147*	p.E1183*	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	31	3667	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	1183					B8X2Z3	Nonsense_Mutation	SNP	ENST00000334583.6	37	c.3547G>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	39	7.896565	0.98548	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	.	.	.	5.89	3.9	0.45041	.	0.104575	0.42964	D	0.000621	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-24.1296	9.3801	0.38309	0.0761:0.1456:0.7784:0.0	.	.	.	.	X	1183;280;1147	.	ENSP00000334958:E1183X	E	+	1	0	RLTPR	66246061	1.000000	0.71417	0.990000	0.47175	0.456000	0.32438	4.591000	0.61019	1.450000	0.47717	0.655000	0.94253	GAG		PASS	0.652	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		10	92	10	92	---	---	---	---
PDPR	55066	broad.mit.edu	37	16	70187417	70187417	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:70187417A>G	ENST00000288050.4	+	18	3133	c.2176A>G	c.(2176-2178)Ata>Gta	p.I726V	PDPR_ENST00000562100.1_Intron|PDPR_ENST00000542659.1_Missense_Mutation_p.I71V|PDPR_ENST00000567046.1_Missense_Mutation_p.I84V|PDPR_ENST00000398122.3_Missense_Mutation_p.I626V|PDPR_ENST00000568530.1_Missense_Mutation_p.I726V|RP11-296I10.3_ENST00000566989.1_RNA	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	726					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.I726V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GGGTCAGGATATAAATAACCT	0.488																																						uc002eyf.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2176-2178)ATA>GTA		pyruvate dehydrogenase phosphatase regulatory							84.0	87.0	86.0					16																	70187417		1927	4140	6067	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70187417A>G		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2176A>G	16.37:g.70187417A>G	ENSP00000288050:p.Ile726Val					CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.I626V|PDPR_uc002eyg.1_Intron|PDPR_uc002eyh.2_Missense_Mutation_p.I71V|PDPR_uc010vls.1_Missense_Mutation_p.I71V	p.I726V	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	18	3133	+			726					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.2176A>G	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.221573	0.58560	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000542659	T;T;T	0.77750	-1.12;-1.12;-1.12	6.04	-1.32	0.09201	Glycine cleavage T-protein, N-terminal (1);	0.068192	0.64402	D	0.000011	T	0.71804	0.3383	M	0.62154	1.92	0.28016	N	0.934693	B	0.20164	0.042	B	0.32211	0.142	T	0.65598	-0.6129	10	0.66056	D	0.02	.	7.0701	0.25173	0.1492:0.5197:0.0:0.3312	.	726	Q8NCN5	PDPR_HUMAN	V	726;626;71	ENSP00000288050:I726V;ENSP00000381190:I626V;ENSP00000441690:I71V	ENSP00000288050:I726V	I	+	1	0	PDPR	68744918	1.000000	0.71417	0.988000	0.46212	0.971000	0.66376	1.659000	0.37387	-0.280000	0.09154	-0.527000	0.04329	ATA		PASS	0.488	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		11	69	11	69	---	---	---	---
VAT1L	57687	broad.mit.edu	37	16	77850897	77850897	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:77850897G>C	ENST00000302536.2	+	2	466	c.313G>C	c.(313-315)Gag>Cag	p.E105Q		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	105							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.E105Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCCAGGATTTGAGTGTTCTGG	0.428																																						uc002ffg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(313-315)GAG>CAG		vesicle amine transport protein 1 homolog (T.							148.0	136.0	140.0					16																	77850897		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77850897G>C	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.313G>C	16.37:g.77850897G>C	ENSP00000303129:p.Glu105Gln						p.E105Q	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			2	410	+			105					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.313G>C	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117845	0.94385	.	.	ENSG00000171724	ENST00000302536	T	0.19394	2.15	5.8	5.8	0.92144	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.55417	0.1919	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60890	-0.7173	10	0.87932	D	0	-13.5484	19.6444	0.95770	0.0:0.0:1.0:0.0	.	105	Q9HCJ6	VAT1L_HUMAN	Q	105	ENSP00000303129:E105Q	ENSP00000303129:E105Q	E	+	1	0	VAT1L	76408398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.745000	0.94114	0.491000	0.48974	GAG		PASS	0.428	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		20	297	20	297	---	---	---	---
CDT1	81620	broad.mit.edu	37	16	88870964	88870964	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:88870964C>T	ENST00000301019.4	+	2	859	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1									p.P80P(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		TTTCCAGCCCCAGTACCCCCG	0.637																																					Melanoma(159;511 3380 30971)	uc002flu.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	central_nervous_system(1)	1						c.(238-240)CCC>CCT		chromatin licensing and DNA replication factor							36.0	41.0	39.0					16																	88870964		2198	4298	6496	SO:0001819	synonymous_variant	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88870964C>T	AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.240C>T	16.37:g.88870964C>T							p.P80P	NM_030928	NP_112190	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	2	294	+			80						Silent	SNP	ENST00000301019.4	37	c.240C>T	CCDS32510.1																																																																																				PASS	0.637	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1	NM_030928		40	103	40	103	---	---	---	---
GALNS	2588	broad.mit.edu	37	16	88909127	88909127	+	Silent	SNP	A	A	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:88909127A>G	ENST00000268695.5	-	2	319	c.231T>C	c.(229-231)ccT>ccC	p.P77P	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	77	Catalytic domain.		P -> R (in MPS4A; severe form). {ECO:0000269|PubMed:24726177, ECO:0000269|PubMed:7633425, ECO:0000269|PubMed:7668283}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)	p.P77P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GCGAGCACAGAGGGTTGGCAG	0.637																																					GBM(129;1929 2344 25209 33204)	uc002fly.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(229-231)CCT>CCC		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						60.0	52.0	55.0					16																	88909127		2193	4298	6491	SO:0001819	synonymous_variant	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88909127A>G	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.231T>C	16.37:g.88909127A>G						GALNS_uc010cid.2_Silent_p.P83P|GALNS_uc002flz.3_Intron	p.P77P	NM_000512	NP_000503	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	2	320	-			77		P -> R (in MPS4A; severe form).			Q86VK3	Silent	SNP	ENST00000268695.5	37	c.231T>C	CCDS10970.1																																																																																				PASS	0.637	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			16	37	16	37	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89348549	89348549	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:89348549C>T	ENST00000301030.4	-	9	4861	c.4401G>A	c.(4399-4401)gaG>gaA	p.E1467E	ANKRD11_ENST00000378330.2_Silent_p.E1467E	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1467	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E1467E(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ctctccatttctccctgtgtt	0.512																																						uc002fmx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4399-4401)GAG>GAA		ankyrin repeat domain 11							107.0	67.0	81.0					16																	89348549		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89348549C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4401G>A	16.37:g.89348549C>T						ANKRD11_uc002fmy.1_Silent_p.E1467E|ANKRD11_uc002fnc.1_Silent_p.E1467E|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.E1424E	p.E1467E	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4862	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1467			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.4401G>A	CCDS32513.1																																																																																				PASS	0.512	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		8	169	8	169	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89348736	89348736	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:89348736G>A	ENST00000301030.4	-	9	4674	c.4214C>T	c.(4213-4215)tCt>tTt	p.S1405F	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1405F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1405	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S1405F(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CATGTTGTAAGAAACTCCGTA	0.443																																						uc002fmx.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4213-4215)TCT>TTT		ankyrin repeat domain 11							113.0	111.0	112.0					16																	89348736		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348736G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4214C>T	16.37:g.89348736G>A	ENSP00000301030:p.Ser1405Phe					ANKRD11_uc002fmy.1_Missense_Mutation_p.S1405F|ANKRD11_uc002fnc.1_Missense_Mutation_p.S1405F|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.S1362F	p.S1405F	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4675	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1405			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4214C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	1.179	-0.638740	0.03557	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.39592	1.07;1.07	5.11	4.15	0.48705	.	0.360446	0.29537	N	0.011870	T	0.38612	0.1047	L	0.51422	1.61	0.80722	D	1	P	0.43169	0.8	B	0.37833	0.259	T	0.38243	-0.9670	10	0.52906	T	0.07	.	15.664	0.77213	0.0:0.1379:0.8621:0.0	.	1405	Q6UB99	ANR11_HUMAN	F	1405	ENSP00000301030:S1405F;ENSP00000367581:S1405F	ENSP00000301030:S1405F	S	-	2	0	ANKRD11	87876237	0.991000	0.36638	0.001000	0.08648	0.001000	0.01503	6.209000	0.72171	1.273000	0.44346	-0.257000	0.10917	TCT		PASS	0.443	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		17	445	17	445	---	---	---	---
CPNE7	27132	broad.mit.edu	37	16	89655134	89655134	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr16:89655134C>T	ENST00000268720.5	+	12	1334	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	CPNE7_ENST00000319518.8_Silent_p.L327L	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	402	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)	p.L402L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CAGCTGCTCCCTGCACTACAT	0.647																																						uc002fnp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1204-1206)CTG>TTG		copine 7 isoform b							145.0	107.0	120.0					16																	89655134		2197	4300	6497	SO:0001819	synonymous_variant	27132				lipid metabolic process		transporter activity	g.chr16:89655134C>T	AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1204C>T	16.37:g.89655134C>T						CPNE7_uc002fnq.2_Silent_p.L327L	p.L402L	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)	12	1334	+		all_hematologic(23;0.0748)	402			VWFA.			Silent	SNP	ENST00000268720.5	37	c.1204C>T	CCDS10980.1																																																																																				PASS	0.647	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			10	80	10	80	---	---	---	---
OR1E1	8387	broad.mit.edu	37	17	3300801	3300801	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:3300801T>C	ENST00000322608.2	-	1	903	c.904A>G	c.(904-906)Agc>Ggc	p.S302G		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	302					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S302G(1)		endometrium(3)|large_intestine(2)|lung(5)	10						ATGACTCTGCTCAGGGCTCCC	0.413																																						uc002fvj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(904-906)AGC>GGC		olfactory receptor, family 1, subfamily E,							75.0	74.0	74.0					17																	3300801		2203	4300	6503	SO:0001583	missense	8387				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3300801T>C	U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.904A>G	17.37:g.3300801T>C	ENSP00000313384:p.Ser302Gly						p.S302G	NM_003553	NP_003544	P30953	OR1E1_HUMAN			1	904	-			302			Cytoplasmic (Potential).		O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	c.904A>G	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	T	0.450	-0.894304	0.02491	.	.	ENSG00000180016	ENST00000322608	T	0.37235	1.21	4.25	-7.53	0.01336	.	1.487900	0.03638	N	0.238923	T	0.12347	0.0300	N	0.03194	-0.395	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16276	-1.0408	10	0.11794	T	0.64	.	5.0131	0.14322	0.1145:0.1439:0.1139:0.6276	.	302	P30953	OR1E1_HUMAN	G	302	ENSP00000313384:S302G	ENSP00000313384:S302G	S	-	1	0	OR1E1	3247551	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.028000	0.01431	-1.424000	0.01999	-1.202000	0.01658	AGC		PASS	0.413	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		59	92	59	92	---	---	---	---
SHPK	23729	broad.mit.edu	37	17	3514080	3514080	+	Missense_Mutation	SNP	C	C	T	rs371517274		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:3514080C>T	ENST00000225519.3	-	7	1313	c.1211G>A	c.(1210-1212)cGa>cAa	p.R404Q	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	404					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)	p.R404Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		AACAATGCCTCGGCACAGAGC	0.637																																						uc002fvz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1210-1212)CGA>CAA		carbohydrate kinase-like		C	GLN/ARG	0,4406		0,0,2203	113.0	114.0	113.0		1211	4.2	1.0	17		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	SHPK	NM_013276.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	404/479	3514080	1,13005	2203	4300	6503	SO:0001583	missense	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3514080C>T	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.1211G>A	17.37:g.3514080C>T	ENSP00000225519:p.Arg404Gln					TRPV1_uc010vru.1_5'Flank	p.R404Q	NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	7	1314	-			404					B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	c.1211G>A	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833733	0.50951	0.0	1.16E-4	ENSG00000197417	ENST00000225519	T	0.16897	2.31	5.2	4.22	0.49857	.	0.180201	0.46145	D	0.000310	T	0.09949	0.0244	N	0.25485	0.75	0.39394	D	0.966473	B	0.31752	0.338	B	0.19946	0.027	T	0.13150	-1.0520	10	0.34782	T	0.22	-8.3958	9.0615	0.36438	0.0:0.8368:0.0:0.1632	.	404	Q9UHJ6	SHPK_HUMAN	Q	404	ENSP00000225519:R404Q	ENSP00000225519:R404Q	R	-	2	0	SHPK	3460829	0.977000	0.34250	1.000000	0.80357	0.989000	0.77384	2.020000	0.41010	2.606000	0.88127	0.563000	0.77884	CGA		PASS	0.637	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			21	437	21	437	---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5087217	5087217	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:5087217G>C	ENST00000399604.4	-	1	475	c.335C>G	c.(334-336)tCa>tGa	p.S112*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.S112*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S112*(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGTTAATCCTGACTTCTGTTT	0.358																																						uc010cla.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(334-336)TCA>TGA		zinc finger protein 594							66.0	63.0	64.0					17																	5087217		1843	4097	5940	SO:0001587	stop_gained	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5087217G>C	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.335C>G	17.37:g.5087217G>C	ENSP00000382513:p.Ser112*						p.S112*	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	491	-			112					Q6RFS0	Nonsense_Mutation	SNP	ENST00000399604.4	37	c.335C>G	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	G	7.268	0.606611	0.14002	.	.	ENSG00000180626	ENST00000399604	.	.	.	2.37	2.37	0.29283	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	6.3787	0.21521	0.0:0.0:0.7076:0.2924	.	.	.	.	X	112	.	ENSP00000382513:S112X	S	-	2	0	ZNF594	5027941	0.392000	0.25229	0.041000	0.18516	0.006000	0.05464	1.751000	0.38339	1.332000	0.45431	0.557000	0.71058	TCA		PASS	0.358	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		6	102	6	102	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10297613	10297613	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:10297613G>T	ENST00000403437.2	-	35	5213	c.5119C>A	c.(5119-5121)Cag>Aag	p.Q1707K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1707					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.Q1707K(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGGAGCTCCTGTTCGGCGATT	0.567									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(5119-5121)CAG>AAG		myosin, heavy chain 8, skeletal muscle,							130.0	115.0	120.0					17																	10297613		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10297613G>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5119C>A	17.37:g.10297613G>T	ENSP00000384330:p.Gln1707Lys					uc002gml.1_Intron	p.Q1707K	NM_002472	NP_002463	P13535	MYH8_HUMAN			35	5214	-			1707			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5119C>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961283	0.92791	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.77489	-1.1	5.06	5.06	0.68205	Myosin tail (1);	0.000000	0.39615	U	0.001319	D	0.86694	0.5994	M	0.86573	2.825	0.58432	D	0.999998	P	0.45634	0.863	P	0.51297	0.665	D	0.88305	0.2952	10	0.54805	T	0.06	.	18.6157	0.91302	0.0:0.0:1.0:0.0	.	1707	P13535	MYH8_HUMAN	K	1707	ENSP00000384330:Q1707K	ENSP00000252173:Q1707K	Q	-	1	0	MYH8	10238338	1.000000	0.71417	0.978000	0.43139	0.853000	0.48598	9.601000	0.98297	2.632000	0.89209	0.650000	0.86243	CAG		PASS	0.567	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		76	118	76	118	---	---	---	---
LRRC48	83450	broad.mit.edu	37	17	17900878	17900878	+	Missense_Mutation	SNP	G	G	A	rs199972472		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:17900878G>A	ENST00000399187.1	+	9	1147	c.929G>A	c.(928-930)cGt>cAt	p.R310H	LRRC48_ENST00000584166.1_Missense_Mutation_p.R310H|LRRC48_ENST00000411504.2_Missense_Mutation_p.R310H|LRRC48_ENST00000313838.8_Missense_Mutation_p.R310H|LRRC48_ENST00000399182.1_Missense_Mutation_p.R310H	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	310						cytoplasm (GO:0005737)		p.R310H(2)		breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GAATGTGTCCGTGAGGCCATC	0.517																																						uc010vxd.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(928-930)CGT>CAT		leucine rich repeat containing 48 isoform a		A	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4084		0,0,2042	69.0	67.0	68.0		929,929,929,929	-0.7	0.0	17		68	2,8388		0,2,4193	yes	missense,missense,missense,missense	LRRC48	NM_001130090.1,NM_001130091.1,NM_001130092.1,NM_031294.3	29,29,29,29	0,2,6235	AA,AG,GG		0.0238,0.0,0.016	benign,benign,benign,benign	310/524,310/458,310/458,310/524	17900878	2,12472	2042	4195	6237	SO:0001583	missense	83450					cytoplasm		g.chr17:17900878G>A	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.929G>A	17.37:g.17900878G>A	ENSP00000382140:p.Arg310His					LRRC48_uc002gsa.2_Missense_Mutation_p.R310H|LRRC48_uc010vxc.1_Missense_Mutation_p.R310H|LRRC48_uc002gsb.2_Missense_Mutation_p.R310H|LRRC48_uc010vxe.1_RNA	p.R310H	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN			10	1308	+	all_neural(463;0.228)		310					A8KAE6|Q86SF9|Q86W73|Q8IWG0	Missense_Mutation	SNP	ENST00000399187.1	37	c.929G>A	CCDS45622.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	1.848	-0.465667	0.04476	0.0	2.38E-4	ENSG00000171962	ENST00000313838;ENST00000448396;ENST00000411504;ENST00000399184;ENST00000399187;ENST00000399182;ENST00000399185	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.56	-0.66	0.11421	.	0.781969	0.12382	N	0.473799	T	0.15305	0.0369	N	0.04508	-0.205	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.17684	-1.0361	10	0.23302	T	0.38	-2.1273	1.9226	0.03310	0.521:0.1251:0.2322:0.1217	.	310;310	Q9H069;Q9H069-2	LRC48_HUMAN;.	H	310	ENSP00000326870:R310H;ENSP00000394020:R310H;ENSP00000382140:R310H;ENSP00000382136:R310H	ENSP00000326870:R310H	R	+	2	0	LRRC48	17841603	0.001000	0.12720	0.000000	0.03702	0.276000	0.26787	1.171000	0.31896	-0.385000	0.07833	-0.361000	0.07541	CGT		PASS	0.517	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		7	49	7	49	---	---	---	---
EFCAB5	374786	broad.mit.edu	37	17	28380316	28380316	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:28380316G>A	ENST00000394835.3	+	10	1536	c.1344G>A	c.(1342-1344)tgG>tgA	p.W448*	EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.W448*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.W448*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.W448*|EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.W105*|EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.W392*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	448							calcium ion binding (GO:0005509)	p.W448*(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTGAGTTGTGGGGAGACATGG	0.338																																						uc002het.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1342-1344)TGG>TGA		EF-hand calcium binding domain 5 isoform a							154.0	152.0	153.0					17																	28380316		1854	4094	5948	SO:0001587	stop_gained	374786						calcium ion binding	g.chr17:28380316G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1344G>A	17.37:g.28380316G>A	ENSP00000378312:p.Trp448*					EFCAB5_uc010wbi.1_Nonsense_Mutation_p.W191*|EFCAB5_uc010wbj.1_Nonsense_Mutation_p.W392*|EFCAB5_uc010wbk.1_Nonsense_Mutation_p.W105*|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Nonsense_Mutation_p.W327*|EFCAB5_uc010csf.2_Nonsense_Mutation_p.W327*	p.W448*	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			10	1536	+			448					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Nonsense_Mutation	SNP	ENST00000394835.3	37	c.1344G>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492751	0.64074	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	.	.	.	5.83	5.83	0.93111	.	0.000000	0.48286	D	0.000185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-8.512	17.6198	0.88077	0.0:0.0:1.0:0.0	.	.	.	.	X	392;191;105;448;448;448;448;392;254	.	ENSP00000322003:W448X	W	+	3	0	EFCAB5	25404442	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.739000	0.68622	2.749000	0.94314	0.655000	0.94253	TGG		PASS	0.338	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		46	285	46	285	---	---	---	---
SUZ12	23512	broad.mit.edu	37	17	30320965	30320965	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:30320965A>G	ENST00000322652.5	+	12	1604	c.1375A>G	c.(1375-1377)Aaa>Gaa	p.K459E	SUZ12_ENST00000580398.1_Missense_Mutation_p.K436E	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	459					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.K459E(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				GAACTGCCGCAAACTTTATAG	0.328			T	JAZF1	endometrial stromal tumours																																	uc002hgs.2				Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	JAZF1/SUZ12(131)	1	Substitution - Missense(1)		lung(1)	soft_tissue(98)|endometrium(33)	131						c.(1375-1377)AAA>GAA		joined to JAZF1							98.0	92.0	94.0					17																	30320965		2203	4300	6503	SO:0001583	missense	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30320965A>G	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1375A>G	17.37:g.30320965A>G	ENSP00000316578:p.Lys459Glu					SUZ12_uc002hgt.2_Missense_Mutation_p.K436E	p.K459E	NM_015355	NP_056170	Q15022	SUZ12_HUMAN			12	1597	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	459			C2H2-type.		Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	c.1375A>G	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	a	15.43	2.832496	0.50845	.	.	ENSG00000178691	ENST00000322652	T	0.45276	0.9	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	M	0.61703	1.905	0.80722	D	1	P;P	0.49090	0.919;0.734	B;B	0.42087	0.375;0.185	T	0.47142	-0.9140	10	0.46703	T	0.11	-15.6932	15.4188	0.74995	1.0:0.0:0.0:0.0	.	459;459	A8K1U9;Q15022	.;SUZ12_HUMAN	E	459	ENSP00000316578:K459E	ENSP00000316578:K459E	K	+	1	0	SUZ12	27345078	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.241000	0.95402	2.044000	0.60594	0.524000	0.50904	AAA		PASS	0.328	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355		31	111	31	111	---	---	---	---
LRRC37B	114659	broad.mit.edu	37	17	30348235	30348235	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:30348235G>C	ENST00000341671.7	+	1	75	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	LRRC37B_ENST00000394713.3_Missense_Mutation_p.E24Q|LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000327564.7_Missense_Mutation_p.E51Q|LRRC37B_ENST00000584368.1_Missense_Mutation_p.E36Q	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	24				FWGPWPLLTWQLLSLLVKE -> ITAMAPPYVATIVFTSQG (in Ref. 1; CAC44536). {ECO:0000305}.		cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.E24Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACTAGTCAAGGAGGCTCAGCC	0.592																																						uc002hgu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(70-72)GAG>CAG		leucine rich repeat containing 37B precursor							61.0	67.0	65.0					17																	30348235		2203	4300	6503	SO:0001583	missense	114659					integral to membrane		g.chr17:30348235G>C	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.70G>C	17.37:g.30348235G>C	ENSP00000340519:p.Glu24Gln					LRRC37B_uc010wbx.1_Intron|LRRC37B_uc010csu.2_Missense_Mutation_p.E24Q	p.E24Q	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN			1	81	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	24	FWGPWPLLTWQLLSLLVKE -> ITAMAPPYVATIVFTSQG (in Ref. 1; CAC44536).				Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.70G>C	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	9.843	1.191552	0.21954	.	.	ENSG00000185158	ENST00000327564;ENST00000394713;ENST00000341671	T;T;T	0.66995	-0.24;0.88;-0.22	1.93	1.93	0.25924	.	.	.	.	.	T	0.39733	0.1089	N	0.19112	0.55	0.09310	N	1	P;B	0.39094	0.659;0.004	B;B	0.21708	0.036;0.003	T	0.11084	-1.0602	9	0.20519	T	0.43	.	7.4125	0.27025	0.0:0.0:1.0:0.0	.	24;24	Q17RC9;Q96QE4	.;LR37B_HUMAN	Q	51;24;24	ENSP00000332536:E51Q;ENSP00000378202:E24Q;ENSP00000340519:E24Q	ENSP00000332536:E51Q	E	+	1	0	LRRC37B	27372348	0.008000	0.16893	0.004000	0.12327	0.204000	0.24138	1.507000	0.35758	1.389000	0.46526	0.299000	0.19835	GAG		PASS	0.592	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		22	342	22	342	---	---	---	---
MYO1D	4642	broad.mit.edu	37	17	30986349	30986349	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:30986349C>T	ENST00000318217.5	-	17	2433	c.2129G>A	c.(2128-2130)cGg>cAg	p.R710Q	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Missense_Mutation_p.R622Q|MYO1D_ENST00000579584.1_Missense_Mutation_p.R710Q	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	710	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R710Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CAGGGTGCCCCGCCACACCTT	0.483											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hho.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(2128-2130)CGG>CAG		myosin ID							79.0	80.0	80.0					17																	30986349		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:30986349C>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2129G>A	17.37:g.30986349C>T	ENSP00000324527:p.Arg710Gln		OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	MYO1D_uc002hhp.1_Missense_Mutation_p.R710Q	p.R710Q	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		17	2141	-			710			IQ 1.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.2129G>A	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	36	5.750246	0.96890	.	.	ENSG00000176658	ENST00000318217	T	0.76839	-1.05	6.07	6.07	0.98685	.	0.000000	0.38492	U	0.001673	D	0.92945	0.7755	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	D	0.94836	0.8000	10	0.87932	D	0	.	18.1532	0.89682	0.0:1.0:0.0:0.0	.	621;710	Q7Z3N6;O94832	.;MYO1D_HUMAN	Q	710	ENSP00000324527:R710Q	ENSP00000324527:R710Q	R	-	2	0	MYO1D	28010462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.745000	0.85046	2.885000	0.99019	0.655000	0.94253	CGG		PASS	0.483	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			23	81	23	81	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	31438962	31438962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:31438962C>A	ENST00000359872.6	-	2	1440	c.679G>T	c.(679-681)Gag>Tag	p.E227*	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000225823.2_Nonsense_Mutation_p.E278*|RP11-40A13.1_ENST00000584688.1_RNA	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	227					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.E227*(1)|p.E278*(1)								Amiloride(DB00594)	GGCAGGTACTCATCCTGCTGA	0.587																																						uc002hhu.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(679-681)GAG>TAG		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						161.0	136.0	144.0					17																	31438962		2203	4300	6503	SO:0001587	stop_gained	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31438962C>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.679G>T	17.37:g.31438962C>A	ENSP00000352934:p.Glu227*					ACCN1_uc002hht.2_Nonsense_Mutation_p.E278*	p.E227*	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	2	953	-		Breast(31;0.042)|Ovarian(249;0.202)	227			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Nonsense_Mutation	SNP	ENST00000359872.6	37	c.679G>T	CCDS42296.1	.	.	.	.	.	.	.	.	.	.	C	45	12.046257	0.99630	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-23.9831	16.0549	0.80794	0.0:1.0:0.0:0.0	.	.	.	.	X	278;227;33	.	ENSP00000225823:E278X	E	-	1	0	ACCN1	28463075	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.818000	0.86416	0.285000	0.22329	-0.388000	0.06559	GAG		PASS	0.587	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		14	294	14	294	---	---	---	---
GGNBP2	79893	broad.mit.edu	37	17	34912988	34912988	+	Silent	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:34912988G>C	ENST00000304718.4	+	4	556	c.240G>C	c.(238-240)ctG>ctC	p.L80L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	80					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.L80L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GCGAAGTCCTGAGTGCACTTT	0.483																																						uc002hnb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(238-240)CTG>CTC		zinc finger protein 403							230.0	207.0	215.0					17																	34912988		2203	4300	6503	SO:0001819	synonymous_variant	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34912988G>C	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.240G>C	17.37:g.34912988G>C						GGNBP2_uc002hna.2_Silent_p.L80L	p.L80L	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	4	489	+		Breast(25;0.00957)|Ovarian(249;0.17)	80					B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	37	c.240G>C	CCDS11314.1																																																																																				PASS	0.483	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		69	331	69	331	---	---	---	---
KRT23	25984	broad.mit.edu	37	17	39084790	39084790	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:39084790C>T	ENST00000209718.3	-	5	1130	c.706G>A	c.(706-708)Gat>Aat	p.D236N	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.D99N	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	236	Linker 12.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.D236N(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TTAATCAGATCTTCCCTGGGA	0.393																																						uc002hvm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(706-708)GAT>AAT		keratin 23							196.0	189.0	191.0					17																	39084790		2203	4300	6503	SO:0001583	missense	25984					intermediate filament	structural molecule activity	g.chr17:39084790C>T	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.706G>A	17.37:g.39084790C>T	ENSP00000209718:p.Asp236Asn					KRT23_uc010wfl.1_Missense_Mutation_p.D99N|KRT23_uc010cxf.1_Missense_Mutation_p.D23N|KRT23_uc010cxg.2_Missense_Mutation_p.D236N|KRT23_uc002hvn.1_Missense_Mutation_p.D236N	p.D236N	NM_015515	NP_056330	Q9C075	K1C23_HUMAN			5	1295	-		Breast(137;0.000301)|Ovarian(249;0.15)	236			Rod.|Linker 12.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	ENST00000209718.3	37	c.706G>A	CCDS11380.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394122	0.83011	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.92299	-3.01;-3.01	5.5	5.5	0.81552	Filament (1);	0.000000	0.53938	D	0.000042	D	0.96009	0.8700	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95806	0.8837	10	0.56958	D	0.05	.	19.3846	0.94551	0.0:1.0:0.0:0.0	.	236	Q9C075	K1C23_HUMAN	N	236;99	ENSP00000209718:D236N;ENSP00000414056:D99N	ENSP00000209718:D236N	D	-	1	0	KRT23	36338316	1.000000	0.71417	0.527000	0.27925	0.475000	0.33008	7.384000	0.79751	2.566000	0.86566	0.655000	0.94253	GAT		PASS	0.393	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			113	449	113	449	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40317581	40317581	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:40317581C>T	ENST00000264661.3	-	11	2303	c.1971G>A	c.(1969-1971)ctG>ctA	p.L657L	KCNH4_ENST00000607371.1_Silent_p.L657L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	657					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.L657L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTCGGCTGCTCAGCTGCTGCA	0.637																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1969-1971)CTG>CTA		potassium voltage-gated channel, subfamily H,							68.0	62.0	64.0					17																	40317581		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40317581C>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1971G>A	17.37:g.40317581C>T							p.L657L	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	11	2304	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	657			Cytoplasmic (Potential).|cNMP.			Silent	SNP	ENST00000264661.3	37	c.1971G>A	CCDS11420.1																																																																																				PASS	0.637	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		32	156	32	156	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40318427	40318427	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:40318427G>C	ENST00000264661.3	-	10	2060	c.1728C>G	c.(1726-1728)ttC>ttG	p.F576L	KCNH4_ENST00000607371.1_Missense_Mutation_p.F576L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	576					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.F576L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCGGAGCGCAGAACGAGGTCT	0.627																																					NSCLC(117;707 1703 2300 21308 31858)	uc002hzb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1726-1728)TTC>TTG		potassium voltage-gated channel, subfamily H,							58.0	52.0	54.0					17																	40318427		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40318427G>C	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1728C>G	17.37:g.40318427G>C	ENSP00000264661:p.Phe576Leu						p.F576L	NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	2061	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	576			Cytoplasmic (Potential).|cNMP.			Missense_Mutation	SNP	ENST00000264661.3	37	c.1728C>G	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723285	0.68959	.	.	ENSG00000089558	ENST00000264661	D	0.96459	-4.02	4.07	-0.483	0.12075	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.178649	0.26948	N	0.021693	D	0.96620	0.8897	M	0.64567	1.98	0.49687	D	0.999813	D	0.89917	1.0	D	0.97110	1.0	D	0.94341	0.7570	10	0.52906	T	0.07	.	8.5499	0.33444	0.4043:0.0:0.5957:0.0	.	576	Q9UQ05	KCNH4_HUMAN	L	576	ENSP00000264661:F576L	ENSP00000264661:F576L	F	-	3	2	KCNH4	37571953	1.000000	0.71417	0.944000	0.38274	0.887000	0.51463	1.564000	0.36375	0.052000	0.16007	-0.373000	0.07131	TTC		PASS	0.627	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		13	102	13	102	---	---	---	---
FAM134C	162427	broad.mit.edu	37	17	40733896	40733896	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:40733896C>T	ENST00000309428.5	-	9	1395	c.1336G>A	c.(1336-1338)Gac>Aac	p.D446N	FAM134C_ENST00000585894.1_Missense_Mutation_p.D349N|FAM134C_ENST00000543197.1_Missense_Mutation_p.D251N	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	446						integral component of membrane (GO:0016021)		p.D446N(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		AGTTCAAAGTCATCCCCCTCA	0.592																																						uc002ial.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1336-1338)GAC>AAC		hypothetical protein LOC162427							46.0	44.0	45.0					17																	40733896		2203	4300	6503	SO:0001583	missense	162427					integral to membrane		g.chr17:40733896C>T	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.1336G>A	17.37:g.40733896C>T	ENSP00000309432:p.Asp446Asn					FAM134C_uc010wgq.1_Missense_Mutation_p.D246N|FAM134C_uc002iam.1_Missense_Mutation_p.D246N|FAM134C_uc010cyk.1_Missense_Mutation_p.D349N	p.D446N	NM_178126	NP_835227	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	9	1439	-		Breast(137;0.00116)	446					B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	c.1336G>A	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	C	35	5.506005	0.96371	.	.	ENSG00000141699	ENST00000309428;ENST00000543197	T;T	0.72505	-0.66;-0.53	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.85146	0.5630	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85570	0.1233	10	0.87932	D	0	-15.8705	20.2821	0.98520	0.0:1.0:0.0:0.0	.	446	Q86VR2	F134C_HUMAN	N	446;251	ENSP00000309432:D446N;ENSP00000446235:D251N	ENSP00000309432:D446N	D	-	1	0	FAM134C	37987422	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.786000	0.95864	0.563000	0.77884	GAC		PASS	0.592	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		31	120	31	120	---	---	---	---
LRRC46	90506	broad.mit.edu	37	17	45914174	45914174	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:45914174G>A	ENST00000269025.4	+	8	1017	c.654G>A	c.(652-654)acG>acA	p.T218T		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	218								p.T218T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGCAACAGACGGCCCTGACAG	0.682																																						uc002ima.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(652-654)ACG>ACA		leucine rich repeat containing 46							43.0	47.0	45.0					17																	45914174		2203	4300	6503	SO:0001819	synonymous_variant	90506							g.chr17:45914174G>A		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.654G>A	17.37:g.45914174G>A						LRRC46_uc002imb.2_Silent_p.T171T	p.T218T	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN			8	910	+			218			Potential.		A8K9Q0	Silent	SNP	ENST00000269025.4	37	c.654G>A	CCDS11518.1																																																																																				PASS	0.682	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413		7	150	7	150	---	---	---	---
HOXB8	3218	broad.mit.edu	37	17	46690586	46690586	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:46690586G>T	ENST00000239144.4	-	2	944	c.710C>A	c.(709-711)gCg>gAg	p.A237E	HOXB7_ENST00000239165.7_5'Flank|HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.A236E	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	237					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A237E(1)		large_intestine(1)|lung(8)|urinary_tract(2)	11						GCCCTTCTGCGCGTCGCCCTC	0.706																																						uc002inw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)GCG>GAG		homeobox B8							62.0	66.0	64.0					17																	46690586		2201	4299	6500	SO:0001583	missense	3218					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46690586G>T		CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"""Homeoboxes / ANTP class : HOXL subclass"""	5119	protein-coding gene	gene with protein product		142963	"""homeo box B8"""	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.710C>A	17.37:g.46690586G>T	ENSP00000239144:p.Ala237Glu					HOXB7_uc002inv.2_5'Flank	p.A237E	NM_024016	NP_076921	P17481	HXB8_HUMAN			2	945	-			237					Q9H1I2	Missense_Mutation	SNP	ENST00000239144.4	37	c.710C>A	CCDS11533.1	.	.	.	.	.	.	.	.	.	.	G	0.647	-0.811046	0.02798	.	.	ENSG00000120068	ENST00000239144	D	0.89552	-2.53	3.6	1.05	0.20165	.	0.398632	0.16009	U	0.233913	T	0.76033	0.3931	N	0.14661	0.345	0.30840	N	0.7358	B	0.21520	0.057	B	0.24394	0.053	T	0.65257	-0.6212	10	0.13108	T	0.6	.	9.1661	0.37052	0.0:0.3067:0.5624:0.1309	.	237	P17481	HXB8_HUMAN	E	237	ENSP00000239144:A237E	ENSP00000239144:A237E	A	-	2	0	HOXB8	44045585	0.995000	0.38212	0.969000	0.41365	0.006000	0.05464	0.177000	0.16801	0.622000	0.30249	-0.301000	0.09380	GCG		PASS	0.706	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358092.3			55	227	55	227	---	---	---	---
SGCA	6442	broad.mit.edu	37	17	48243412	48243412	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:48243412C>A	ENST00000262018.3	+	1	47	c.11C>A	c.(10-12)aCa>aAa	p.T4K	SGCA_ENST00000344627.6_Missense_Mutation_p.T4K|SGCA_ENST00000543315.1_Missense_Mutation_p.T4K|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000451235.2_5'UTR|RP11-893F2.14_ENST00000572855.1_RNA	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	4					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)	p.T4K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						ATGGCTGAGACACTCTTCTGG	0.667																																						uc002iqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(10-12)ACA>AAA		sarcoglycan, alpha isoform 1 precursor							103.0	114.0	110.0					17																	48243412		2203	4300	6503	SO:0001583	missense	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48243412C>A	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.11C>A	17.37:g.48243412C>A	ENSP00000262018:p.Thr4Lys					SGCA_uc010wmh.1_5'UTR|SGCA_uc002iqj.2_Missense_Mutation_p.T4K|SGCA_uc010wmi.1_RNA	p.T4K	NM_000023	NP_000014	Q16586	SGCA_HUMAN			1	47	+			4					A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	37	c.11C>A	CCDS32679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.171|8.171	0.791615|0.791615	0.16258|0.16258	.|.	.|.	ENSG00000108823|ENSG00000108823	ENST00000511303|ENST00000344627;ENST00000262018;ENST00000543315	D|D;D;D	0.97430|0.97378	-4.38|-3.91;-4.36;-3.91	3.48|3.48	-5.96|-5.96	0.02234|0.02234	.|.	.|0.793883	.|0.11330	.|U	.|0.575168	D|D	0.87378|0.87378	0.6162|0.6162	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B	.|0.33103	.|0.397;0.037	.|B;B	.|0.30316	.|0.114;0.01	D|D	0.83626|0.83626	0.0142|0.0142	7|10	0.62326|0.19590	D|T	0.03|0.45	1.2955|1.2955	5.8941|5.8941	0.18929|0.18929	0.0:0.2102:0.1604:0.6294|0.0:0.2102:0.1604:0.6294	.|.	.|4;4	.|Q16586-2;Q16586	.|.;SGCA_HUMAN	N|K	3|4	ENSP00000426104:H3N|ENSP00000345522:T4K;ENSP00000262018:T4K;ENSP00000444539:T4K	ENSP00000426104:H3N|ENSP00000262018:T4K	H|T	+|+	1|2	0|0	SGCA|SGCA	45598411|45598411	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.366000|-0.366000	0.07563|0.07563	-1.079000|-1.079000	0.03113|0.03113	-0.401000|-0.401000	0.06369|0.06369	CAC|ACA		PASS	0.667	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		83	472	83	472	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48669396	48669396	+	Silent	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:48669396C>A	ENST00000359106.5	+	13	2853	c.2853C>A	c.(2851-2853)ggC>ggA	p.G951G	CACNA1G_ENST00000503485.1_Silent_p.G951G|CACNA1G_ENST00000360761.4_Silent_p.G951G|CACNA1G_ENST00000507896.1_Silent_p.G951G|CACNA1G_ENST00000514181.1_Silent_p.G951G|CACNA1G_ENST00000514717.1_Silent_p.G951G|CACNA1G_ENST00000514079.1_Silent_p.G951G|CACNA1G_ENST00000512389.1_Silent_p.G951G|CACNA1G_ENST00000507336.1_Silent_p.G951G|CACNA1G_ENST00000510115.1_Silent_p.G951G|CACNA1G_ENST00000442258.2_Silent_p.G951G|CACNA1G_ENST00000507609.1_Silent_p.G951G|CACNA1G_ENST00000513689.2_Silent_p.G951G|CACNA1G_ENST00000354983.4_Silent_p.G951G|CACNA1G_ENST00000510366.1_Silent_p.G951G|CACNA1G_ENST00000429973.2_Silent_p.G951G|CACNA1G_ENST00000515411.1_Silent_p.G951G|CACNA1G_ENST00000416767.4_Silent_p.G951G|CACNA1G_ENST00000507510.2_Silent_p.G951G|CACNA1G_ENST00000513964.1_Silent_p.G951G|CACNA1G_ENST00000352832.5_Silent_p.G951G|CACNA1G_ENST00000358244.5_Silent_p.G951G|CACNA1G_ENST00000515765.1_Silent_p.G951G|CACNA1G_ENST00000515165.1_Silent_p.G951G|CACNA1G_ENST00000505165.1_Silent_p.G951G|CACNA1G_ENST00000502264.1_Silent_p.G951G	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	951					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.G951G(4)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGACCTTCGGCAACTACGTGC	0.577																																						uc002irk.1																			4	Substitution - coding silent(4)		lung(4)	breast(1)	1						c.(2851-2853)GGC>GGA		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						70.0	76.0	74.0					17																	48669396		2019	4186	6205	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48669396C>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2853C>A	17.37:g.48669396C>A						CACNA1G_uc002iri.1_Silent_p.G951G|CACNA1G_uc002irj.1_Silent_p.G951G|CACNA1G_uc002irl.1_Silent_p.G951G|CACNA1G_uc002irm.1_Silent_p.G951G|CACNA1G_uc002irn.1_Silent_p.G951G|CACNA1G_uc002iro.1_Silent_p.G951G|CACNA1G_uc002irp.1_Silent_p.G951G|CACNA1G_uc002irq.1_Silent_p.G951G|CACNA1G_uc002irr.1_Silent_p.G951G|CACNA1G_uc002irs.1_Silent_p.G951G|CACNA1G_uc002irt.1_Silent_p.G951G|CACNA1G_uc002irv.1_Silent_p.G951G|CACNA1G_uc002irw.1_Silent_p.G951G|CACNA1G_uc002iru.1_Silent_p.G951G|CACNA1G_uc002irx.1_Silent_p.G864G|CACNA1G_uc002iry.1_Silent_p.G864G|CACNA1G_uc002irz.1_Silent_p.G864G|CACNA1G_uc002isa.1_Silent_p.G864G|CACNA1G_uc002isb.1_Silent_p.G864G|CACNA1G_uc002isc.1_Silent_p.G864G|CACNA1G_uc002isd.1_Silent_p.G864G|CACNA1G_uc002ise.1_Silent_p.G864G|CACNA1G_uc002isf.1_Silent_p.G864G|CACNA1G_uc002isg.1_Silent_p.G864G|CACNA1G_uc002ish.1_Silent_p.G864G|CACNA1G_uc002isi.1_Silent_p.G864G	p.G951G	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		13	3225	+	Breast(11;6.7e-17)		951			II.|Helical; Name=S6 of repeat II; (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.2853C>A	CCDS45730.1																																																																																				PASS	0.577	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		24	136	24	136	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56434896	56434896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:56434896C>T	ENST00000584437.1	-	8	4196	c.2241G>A	c.(2239-2241)tgG>tgA	p.W747*	RNF43_ENST00000581868.1_Nonsense_Mutation_p.W620*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.W620*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.W706*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.W747*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Nonsense_Mutation_p.W706*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.W747*			Q68DV7	RNF43_HUMAN	ring finger protein 43	747	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.W747*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCAGAACTCCATTCAGAAG	0.617																																						uc002iwf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2239-2241)TGG>TGA		ring finger protein 43 precursor							78.0	77.0	77.0					17																	56434896		2203	4300	6503	SO:0001587	stop_gained	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56434896C>T		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2241G>A	17.37:g.56434896C>T	ENSP00000463069:p.Trp747*					RNF43_uc010wnv.1_Nonsense_Mutation_p.W706*|RNF43_uc002iwh.3_Nonsense_Mutation_p.W747*|RNF43_uc002iwg.3_Nonsense_Mutation_p.W747*|RNF43_uc010dcw.2_Nonsense_Mutation_p.W620*	p.W747*	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			8	4197	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		747			Pro-rich.|Cytoplasmic (Potential).		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Nonsense_Mutation	SNP	ENST00000584437.1	37	c.2241G>A	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	43	10.469760	0.99411	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	.	.	.	5.71	5.71	0.89125	.	0.555420	0.16855	N	0.196788	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8907	15.33	0.74200	0.0:1.0:0.0:0.0	.	.	.	.	X	747;706	.	ENSP00000385328:W747X	W	-	3	0	RNF43	53789895	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	2.863000	0.48396	2.698000	0.92095	0.511000	0.50034	TGG		PASS	0.617	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		82	313	82	313	---	---	---	---
SMG8	55181	broad.mit.edu	37	17	57290419	57290419	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:57290419G>T	ENST00000543872.2	+	4	2499	c.2235G>T	c.(2233-2235)gaG>gaT	p.E745D	SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.E745D			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	745					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.E745D(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CCACAGTTGAGTATCTCCCAG	0.448																																						uc002ixi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2233-2235)GAG>GAT		SMG8 protein							106.0	106.0	106.0					17																	57290419		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57290419G>T	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2235G>T	17.37:g.57290419G>T	ENSP00000438748:p.Glu745Asp						p.E745D	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			3	2277	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		745					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.2235G>T	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540497	0.65085	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.49432	0.78;0.78	6.07	-2.7	0.06004	.	0.000000	0.85682	D	0.000000	T	0.59128	0.2171	M	0.64404	1.975	0.51233	D	0.999919	D	0.63046	0.992	D	0.74348	0.983	T	0.60398	-0.7271	10	0.59425	D	0.04	-23.1406	12.3228	0.54993	0.6921:0.0:0.3079:0.0	.	745	Q8ND04	SMG8_HUMAN	D	745	ENSP00000300917:E745D;ENSP00000438748:E745D	ENSP00000300917:E745D	E	+	3	2	SMG8	54645201	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	1.415000	0.34748	-0.411000	0.07530	-0.150000	0.13652	GAG		PASS	0.448	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		49	272	49	272	---	---	---	---
ARSG	22901	broad.mit.edu	37	17	66381253	66381253	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:66381253C>T	ENST00000448504.2	+	9	1827	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L	ARSG_ENST00000452479.2_Missense_Mutation_p.P180L|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	344					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.P344L(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CACCGGGTCCCAGCACTGGCT	0.562																																						uc002jhc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1030-1032)CCA>CTA		Arylsulfatase G precursor							84.0	82.0	83.0					17																	66381253		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66381253C>T	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1031C>T	17.37:g.66381253C>T	ENSP00000407193:p.Pro344Leu					ARSG_uc002jhb.1_Missense_Mutation_p.P180L	p.P344L	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		9	1827	+			344					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.1031C>T	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167165	0.94768	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.64	5.64	0.86602	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.055779	0.64402	D	0.000001	D	0.91116	0.7203	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.94431	0.7649	9	0.87932	D	0	.	18.4841	0.90823	0.0:1.0:0.0:0.0	.	344	Q96EG1	ARSG_HUMAN	L	344;243	.	ENSP00000407193:P243L	P	+	2	0	ARSG	63892848	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	5.787000	0.69013	2.652000	0.90054	0.655000	0.94253	CCA		PASS	0.562	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		28	264	28	264	---	---	---	---
DNAI2	64446	broad.mit.edu	37	17	72310317	72310317	+	Missense_Mutation	SNP	G	G	A	rs184887767	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:72310317G>A	ENST00000311014.6	+	13	1847	c.1780G>A	c.(1780-1782)Gaa>Aaa	p.E594K	DNAI2_ENST00000579490.1_Missense_Mutation_p.E651K|DNAI2_ENST00000582036.1_Missense_Mutation_p.E582K|DNAI2_ENST00000446837.2_Missense_Mutation_p.E594K|DNAI2_ENST00000307504.5_Missense_Mutation_p.G399E			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	594					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.E594K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						agcagcgggggaagaagggga	0.557									Kartagener syndrome																													uc002jkf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1780-1782)GAA>AAA		dynein, axonemal, intermediate polypeptide 2							232.0	172.0	193.0					17																	72310317		2203	4300	6503	SO:0001583	missense	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72310317G>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1780G>A	17.37:g.72310317G>A	ENSP00000308312:p.Glu594Lys					DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|DNAI2_uc002jki.2_RNA	p.E594K	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			13	1879	+			594					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.1780G>A	CCDS11697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.759|5.759	0.324388|0.324388	0.10900|0.10900	.|.	.|.	ENSG00000171595|ENSG00000171595	ENST00000311014;ENST00000446837|ENST00000307504	T;T|T	0.66815|0.72394	-0.23;-0.23|-0.65	3.48|3.48	2.5|2.5	0.30297|0.30297	.|.	1.803760|.	0.03202|.	N|.	0.174970|.	T|T	0.44498|0.44498	0.1296|0.1296	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P|.	0.43024|.	0.798|.	B|.	0.33042|.	0.157|.	T|T	0.24404|0.24404	-1.0161|-1.0161	10|7	0.09084|0.08381	T|T	0.74|0.77	.|.	8.9925|8.9925	0.36033|0.36033	0.0:0.2262:0.7738:0.0|0.0:0.2262:0.7738:0.0	.|.	594|.	Q9GZS0|.	DNAI2_HUMAN|.	K|E	594|399	ENSP00000308312:E594K;ENSP00000400252:E594K|ENSP00000302929:G399E	ENSP00000308312:E594K|ENSP00000302929:G399E	E|G	+|+	1|2	0|0	DNAI2|DNAI2	69821912|69821912	0.020000|0.020000	0.18652|0.18652	0.012000|0.012000	0.15200|0.15200	0.004000|0.004000	0.04260|0.04260	1.606000|1.606000	0.36826|0.36826	1.038000|1.038000	0.40049|0.40049	-0.314000|-0.314000	0.08810|0.08810	GAA|GGA		PASS	0.557	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		86	79	86	79	---	---	---	---
SRSF2	6427	broad.mit.edu	37	17	74732373	74732373	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:74732373G>C	ENST00000392485.2	-	2	708	c.536C>G	c.(535-537)tCt>tGt	p.S179C	MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000508921.3_Missense_Mutation_p.S167C|SRSF2_ENST00000359995.5_Missense_Mutation_p.S179C|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	179	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.S179C(1)|p.S159C(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CCGCGAACGAGATCTGGAGAC	0.612			Mis		"""MDS, CLL"""																																	uc002jsv.2				Dom	yes		17	17q25	6427		serine/arginine-rich splicing factor 2			L					2	Substitution - Missense(2)		lung(2)		0						c.(535-537)TCT>TGT		splicing factor, arginine/serine-rich 2							120.0	97.0	105.0					17																	74732373		2203	4300	6503	SO:0001583	missense	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732373G>C	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.536C>G	17.37:g.74732373G>C	ENSP00000376276:p.Ser179Cys					SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.S179C|SFRS2_uc010wtg.1_Missense_Mutation_p.S167C|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank	p.S179C	NM_003016	NP_003007	Q01130	SRSF2_HUMAN			2	706	-			179			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	c.536C>G	CCDS11749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.74|11.74	1.727594|1.727594	0.30593|0.30593	.|.	.|.	ENSG00000161547|ENSG00000161547	ENST00000452355|ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	.|T;T	.|0.47177	.|1.4;0.85	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.149780	.|0.45606	.|D	.|0.000355	T|T	0.70168|0.70168	0.3193|0.3193	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.996;0.996	.|D;D	.|0.74674	.|0.984;0.984	T|T	0.74887|0.74887	-0.3511|-0.3511	6|10	0.30854|0.66056	T|D	0.27|0.02	.|.	18.1134|18.1134	0.89542|0.89542	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|167;179	.|B4DN89;Q01130	.|.;SRSF2_HUMAN	V|C	129|179;206;167;159	.|ENSP00000376276:S179C;ENSP00000353089:S159C	ENSP00000391278:L129V|ENSP00000350877:S167C	L|S	-|-	1|2	0|0	SRSF2|SRSF2	72243968|72243968	1.000000|1.000000	0.71417|0.71417	0.189000|0.189000	0.23252|0.23252	0.144000|0.144000	0.21451|0.21451	9.198000|9.198000	0.94994|0.94994	2.265000|2.265000	0.75225|0.75225	0.563000|0.563000	0.77884|0.77884	CTC|TCT		PASS	0.612	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		66	246	66	246	---	---	---	---
SRSF2	6427	broad.mit.edu	37	17	74733066	74733066	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr17:74733066G>A	ENST00000392485.2	-	1	349	c.177C>T	c.(175-177)ttC>ttT	p.F59F	MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000508921.3_Silent_p.F59F|SRSF2_ENST00000359995.5_Silent_p.F59F|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	59	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.F59F(2)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GAAAGCGAACGAAGGCGAAGC	0.682			Mis		"""MDS, CLL"""																																	uc002jsv.2				Dom	yes		17	17q25	6427		serine/arginine-rich splicing factor 2			L					2	Substitution - coding silent(2)		lung(2)		0						c.(175-177)TTC>TTT		splicing factor, arginine/serine-rich 2							28.0	34.0	32.0					17																	74733066		2201	4300	6501	SO:0001819	synonymous_variant	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74733066G>A	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.177C>T	17.37:g.74733066G>A						SFRS2_uc002jsw.1_5'Flank|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Silent_p.F59F|SFRS2_uc010wtg.1_Silent_p.F59F|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MIR636_hsa-mir-636|MI0003651_5'Flank|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank	p.F59F	NM_003016	NP_003007	Q01130	SRSF2_HUMAN			1	347	-			59			RRM.		B3KWD5|B4DN89|H0YG49	Silent	SNP	ENST00000392485.2	37	c.177C>T	CCDS11749.1																																																																																				PASS	0.682	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		24	54	24	54	---	---	---	---
EMILIN2	84034	broad.mit.edu	37	18	2909706	2909706	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr18:2909706C>T	ENST00000254528.3	+	7	2872	c.2713C>T	c.(2713-2715)Ctg>Ttg	p.L905L	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	905	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.L905L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GGTGCCTTCTCTGGTGTCTTT	0.567																																						uc002kln.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(2713-2715)CTG>TTG		elastin microfibril interfacer 2 precursor							97.0	97.0	97.0					18																	2909706		2203	4300	6503	SO:0001819	synonymous_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2909706C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2713C>T	18.37:g.2909706C>T							p.L905L	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	7	2872	+			905			C1q.		B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	c.2713C>T	CCDS11828.1																																																																																				PASS	0.567	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		18	199	18	199	---	---	---	---
ZNF519	162655	broad.mit.edu	37	18	14105884	14105884	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr18:14105884C>T	ENST00000590202.1	-	3	807	c.655G>A	c.(655-657)Gac>Aac	p.D219N	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	219					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D219N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GAGAATGGGTCAGAAGTTTCA	0.303																																						uc002kst.1																			1	Substitution - Missense(1)		lung(1)		0						c.(655-657)GAC>AAC		zinc finger protein 519							54.0	57.0	56.0					18																	14105884		2202	4286	6488	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105884C>T	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.655G>A	18.37:g.14105884C>T	ENSP00000464872:p.Asp219Asn					ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	p.D219N	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN			3	808	-			219						Missense_Mutation	SNP	ENST00000590202.1	37	c.655G>A	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.070379	0.00379	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-1.29	0.09288	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	N	0.00077	-2.24	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.24835	-1.0149	8	0.06236	T	0.91	.	1.9279	0.03321	0.2684:0.2473:0.0:0.4843	.	219	Q8TB69	ZN519_HUMAN	N	219	.	ENSP00000307908:D219N	D	-	1	0	ZNF519	14095884	0.007000	0.16637	0.009000	0.14445	0.284000	0.27059	-0.496000	0.06436	-1.189000	0.02702	0.089000	0.15464	GAC		PASS	0.303	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		6	113	6	113	---	---	---	---
MEP1B	4225	broad.mit.edu	37	18	29770096	29770096	+	Splice_Site	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr18:29770096G>T	ENST00000269202.6	+	1	110	c.63G>T	c.(61-63)ttG>ttT	p.L21F	MEP1B_ENST00000581447.1_Splice_Site_p.L21F	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	21					digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L21F(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTTCTGGCTTGGTAAGGAAAC	0.318																																						uc002kxj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(61-63)TTG>TTT		meprin A beta precursor							148.0	130.0	136.0					18																	29770096		1826	4078	5904	SO:0001630	splice_region_variant	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29770096G>T	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.63+1G>T	18.37:g.29770096G>T							p.L21F	NM_005925	NP_005916	Q16820	MEP1B_HUMAN			1	110	+			21					B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.63G>T	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002585	0.35320	.	.	ENSG00000141434	ENST00000269202	T	0.21361	2.01	5.45	5.45	0.79879	.	4.299290	0.01150	N	0.006395	T	0.26048	0.0635	L	0.54323	1.7	0.80722	D	1	P	0.37864	0.61	B	0.33690	0.168	T	0.41963	-0.9479	10	0.13470	T	0.59	-6.8176	14.7583	0.69583	0.0:0.0:1.0:0.0	.	21	Q16820	MEP1B_HUMAN	F	21	ENSP00000269202:L21F	ENSP00000269202:L21F	L	+	3	2	MEP1B	28024094	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	4.839000	0.62810	2.553000	0.86117	0.591000	0.81541	TTG		PASS	0.318	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925	Missense_Mutation	5	35	5	35	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31318747	31318747	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr18:31318747C>G	ENST00000269197.5	+	11	1379	c.1379C>G	c.(1378-1380)aCt>aGt	p.T460S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T460S(1)|p.T167S(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGGTAGAGACTAGTATCTGT	0.388																																						uc010dmg.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1378-1380)ACT>AGT		additional sex combs like 3							70.0	71.0	71.0					18																	31318747		1871	4100	5971	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31318747C>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1379C>G	18.37:g.31318747C>G	ENSP00000269197:p.Thr460Ser					ASXL3_uc002kxq.2_Missense_Mutation_p.T167S	p.T460S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	1434	+			460					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.1379C>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.416472	0.62511	.	.	ENSG00000141431	ENST00000269197	T	0.18174	2.23	5.2	5.2	0.72013	.	0.995032	0.08156	N	0.989299	T	0.44180	0.1281	M	0.63843	1.955	0.39270	D	0.964362	D	0.69078	0.997	D	0.75020	0.985	T	0.10042	-1.0647	10	0.33940	T	0.23	.	19.115	0.93334	0.0:1.0:0.0:0.0	.	460	Q9C0F0	ASXL3_HUMAN	S	460	ENSP00000269197:T460S	ENSP00000269197:T460S	T	+	2	0	ASXL3	29572745	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.634000	0.67833	2.580000	0.87095	0.467000	0.42956	ACT		PASS	0.388	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			13	85	13	85	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42532367	42532367	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr18:42532367G>T	ENST00000282030.5	+	4	3358	c.3062G>T	c.(3061-3063)aGg>aTg	p.R1021M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1021						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R967M(1)|p.R1021M(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGCGTGGTAGGCCTGCAAAA	0.438									Schinzel-Giedion syndrome																													uc010dni.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(3061-3063)AGG>ATG		SET binding protein 1 isoform a							87.0	79.0	82.0					18																	42532367		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532367G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3062G>T	18.37:g.42532367G>T	ENSP00000282030:p.Arg1021Met						p.R1021M	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3358	+			1021			A.T hook 2.		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.3062G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945089	0.53079	.	.	ENSG00000152217	ENST00000282030	D	0.92965	-3.14	5.82	5.82	0.92795	AT hook, DNA-binding motif (1);	0.049269	0.85682	D	0.000000	D	0.93923	0.8055	L	0.29908	0.895	0.48288	D	0.999629	D	0.89917	1.0	D	0.80764	0.994	D	0.94451	0.7667	10	0.87932	D	0	.	20.0893	0.97812	0.0:0.0:1.0:0.0	.	1021	Q9Y6X0	SETBP_HUMAN	M	1021	ENSP00000282030:R1021M	ENSP00000282030:R1021M	R	+	2	0	SETBP1	40786365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.761000	0.94854	0.655000	0.94253	AGG		PASS	0.438	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		42	133	42	133	---	---	---	---
LMAN1	3998	broad.mit.edu	37	18	56998750	56998750	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr18:56998750A>G	ENST00000251047.5	-	12	2113	c.1396T>C	c.(1396-1398)Tgc>Cgc	p.C466R		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	466					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.C466R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	AGTTCTGGGCATTTCGGCTTT	0.328																																						uc002lhz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1396-1398)TGC>CGC		lectin, mannose-binding, 1 precursor	Antihemophilic Factor(DB00025)						151.0	143.0	145.0					18																	56998750		2203	4300	6503	SO:0001583	missense	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:56998750A>G	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.1396T>C	18.37:g.56998750A>G	ENSP00000251047:p.Cys466Arg						p.C466R	NM_005570	NP_005561	P49257	LMAN1_HUMAN			12	1428	-		Colorectal(73;0.0946)	466			Lumenal (Potential).		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	c.1396T>C	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.734881	0.69189	.	.	ENSG00000074695	ENST00000251047	T	0.58652	0.32	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.78214	0.4248	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.80747	-0.1244	10	0.59425	D	0.04	-13.2249	16.2061	0.82131	1.0:0.0:0.0:0.0	.	466	P49257	LMAN1_HUMAN	R	466	ENSP00000251047:C466R	ENSP00000251047:C466R	C	-	1	0	LMAN1	55149730	1.000000	0.71417	0.954000	0.39281	0.456000	0.32438	8.691000	0.91279	2.311000	0.77944	0.533000	0.62120	TGC		PASS	0.328	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		22	86	22	86	---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64172297	64172298	+	Missense_Mutation	DNP	CG	CG	TC	rs533652186|rs200750075		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr18:64172297_64172298CG>TC	ENST00000262150.2	-	12	2362_2363	c.2070_2071CG>GA	c.(2068-2073)ccCGac>ccGAac	p.D691N	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D691N(2)|p.P690P(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATGGCACTGTCGGGGCCAACTT	0.495																																						uc002lkc.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|skin(1)	2						c.(2071-2073)GAC>AAC|c.(2068-2070)CCC>CCG		cadherin 19, type 2 preproprotein																																				SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64172297C>T|g.chr18:64172298G>C	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2070_2071delinsTC	18.37:g.64172297_64172298delinsTC	ENSP00000262150:p.Asp691Asn					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR	p.D691N|p.P690P	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			12	2209|2208	-		Esophageal squamous(42;0.0132)	691|690			Cytoplasmic (Potential).		O15098	Missense_Mutation|Silent	SNP	ENST00000262150.2	37	c.2071G>A|c.2070C>G	CCDS11994.1																																																																																				PASS	0.495	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		26|25	175	25	175	---	---	---	---
DOK6	220164	broad.mit.edu	37	18	67344978	67344978	+	Missense_Mutation	SNP	G	G	T	rs377459685		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr18:67344978G>T	ENST00000382713.5	+	4	488	c.298G>T	c.(298-300)Gcc>Tcc	p.A100S	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	100	PH.							p.A100S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGAGCTGGAGGCCGAGGAGTG	0.537																																						uc002lkl.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(298-300)GCC>TCC		docking protein 6							125.0	118.0	120.0					18																	67344978		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67344978G>T	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.298G>T	18.37:g.67344978G>T	ENSP00000372160:p.Ala100Ser						p.A100S	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			4	488	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	100			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.298G>T	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122306	0.56613	.	.	ENSG00000206052	ENST00000382713	T	0.76316	-1.01	5.34	5.34	0.76211	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.85133	0.5627	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79778	-0.1660	10	0.16896	T	0.51	-17.0063	16.9217	0.86166	0.0:0.0:1.0:0.0	.	100	Q6PKX4	DOK6_HUMAN	S	100	ENSP00000372160:A100S	ENSP00000372160:A100S	A	+	1	0	DOK6	65495958	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.221000	0.95188	2.937000	0.99478	0.650000	0.86243	GCC		PASS	0.537	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		22	144	22	144	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74587461	74587461	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr18:74587461C>G	ENST00000253159.8	+	6	873	c.675C>G	c.(673-675)ttC>ttG	p.F225L	ZNF236_ENST00000583095.1_3'UTR|ZNF236_ENST00000320610.9_Missense_Mutation_p.F227L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	225					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F225L(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAAGGCCGTTCAAATGTAGTG	0.433											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lmi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(673-675)TTC>TTG		zinc finger protein 236							101.0	97.0	98.0					18																	74587461		1919	4132	6051	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74587461C>G	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.675C>G	18.37:g.74587461C>G	ENSP00000253159:p.Phe225Leu		OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1154	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.F225L	p.F225L	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	6	873	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	225			C2H2-type 7.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.675C>G	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261542	0.23051	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.65732	-0.17;-0.17	5.95	-0.151	0.13411	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.073942	0.64402	D	0.000013	T	0.69196	0.3084	M	0.65498	2.005	0.37859	D	0.929658	B;D	0.61080	0.216;0.989	B;P	0.57101	0.159;0.813	T	0.72830	-0.4174	10	0.66056	D	0.02	.	12.3434	0.55107	0.0:0.5102:0.0:0.4898	.	225;225	Q9NWI2;Q9UL36	.;ZN236_HUMAN	L	225	ENSP00000253159:F225L;ENSP00000444524:F225L	ENSP00000253159:F225L	F	+	3	2	ZNF236	72716449	0.999000	0.42202	0.109000	0.21407	0.033000	0.12548	0.570000	0.23653	-0.245000	0.09625	-0.414000	0.06135	TTC		PASS	0.433	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			28	129	28	129	---	---	---	---
MISP	126353	broad.mit.edu	37	19	758596	758596	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:758596G>A	ENST00000215582.6	+	2	1753	c.1650G>A	c.(1648-1650)gaG>gaA	p.E550E		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	550					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E550E(1)									TGGAAAGGGAGAGGGAGAGTG	0.627																																						uc002lpo.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1648-1650)GAG>GAA		hypothetical protein LOC126353							49.0	56.0	53.0					19																	758596		2203	4300	6503	SO:0001819	synonymous_variant	126353							g.chr19:758596G>A	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1650G>A	19.37:g.758596G>A							p.E550E	NM_173481	NP_775752	Q8IVT2	CS021_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1733	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)	550			Potential.			Silent	SNP	ENST00000215582.6	37	c.1650G>A	CCDS12042.1																																																																																				PASS	0.627	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457600.2	NM_173481		13	275	13	275	---	---	---	---
SH3GL1	6455	broad.mit.edu	37	19	4361705	4361705	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:4361705G>C	ENST00000269886.3	-	10	1177	c.999C>G	c.(997-999)atC>atG	p.I333M	SH3GL1_ENST00000417295.2_Missense_Mutation_p.I285M|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Missense_Mutation_p.I269M	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	333	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.I333M(1)		NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TGGTCAGCGTGATGACGTCGC	0.657			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	uc002maj.2				Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(997-999)ATC>ATG		SH3-domain GRB2-like 1							117.0	85.0	96.0					19																	4361705		2203	4300	6503	SO:0001583	missense	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4361705G>C		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.999C>G	19.37:g.4361705G>C	ENSP00000269886:p.Ile333Met					SH3GL1_uc002mak.2_Missense_Mutation_p.I269M|SH3GL1_uc010xig.1_Missense_Mutation_p.I285M	p.I333M	NM_003025	NP_003016	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	10	1105	-			333			SH3.		B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	ENST00000269886.3	37	c.999C>G	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	18.21	3.573360	0.65765	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.57752	0.38;0.38	3.9	3.9	0.45041	Src homology-3 domain (5);	0.000000	0.85682	U	0.000000	T	0.70815	0.3267	M	0.83312	2.635	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.74411	-0.3674	10	0.87932	D	0	4.5755	8.9526	0.35799	0.1037:0.0:0.8963:0.0	.	285;333;333	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	M	333;285	ENSP00000269886:I333M;ENSP00000404568:I285M	ENSP00000269886:I333M	I	-	3	3	SH3GL1	4312705	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	4.559000	0.60796	1.998000	0.58463	0.511000	0.50034	ATC		PASS	0.657	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		17	114	17	114	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9070578	9070578	+	Missense_Mutation	SNP	G	G	C	rs368020997		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:9070578G>C	ENST00000397910.4	-	3	17071	c.16868C>G	c.(16867-16869)cCc>cGc	p.P5623R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5625	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P5623R(2)|p.P1256R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCACAGGGGGAGTTGTCAT	0.537																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(16867-16869)CCC>CGC		mucin 16							69.0	69.0	69.0					19																	9070578		1922	4121	6043	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070578G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16868C>G	19.37:g.9070578G>C	ENSP00000381008:p.Pro5623Arg						p.P5623R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	17072	-			5625			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16868C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.558	0.287767	0.10513	.	.	ENSG00000181143	ENST00000397910	T	0.25749	1.78	1.68	1.68	0.24146	.	.	.	.	.	T	0.13841	0.0335	N	0.19112	0.55	.	.	.	P	0.46020	0.871	B	0.37451	0.25	T	0.14531	-1.0469	8	0.87932	D	0	.	6.8738	0.24135	0.0:0.0:1.0:0.0	.	5623	B5ME49	.	R	5623	ENSP00000381008:P5623R	ENSP00000381008:P5623R	P	-	2	0	MUC16	8931578	0.025000	0.19082	0.004000	0.12327	0.379000	0.30106	1.164000	0.31810	1.253000	0.44018	0.306000	0.20318	CCC		PASS	0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		43	56	43	56	---	---	---	---
ZNF559	84527	broad.mit.edu	37	19	9452522	9452522	+	Missense_Mutation	SNP	C	C	G	rs145348538		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:9452522C>G	ENST00000393883.2	+	6	1043	c.395C>G	c.(394-396)tCt>tGt	p.S132C	ZNF559_ENST00000603380.1_Missense_Mutation_p.S132C|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000585352.1_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.S52C|ZNF559_ENST00000587557.1_Missense_Mutation_p.S196C|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S132C(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AGAAAACCCTCTATCTTTACT	0.388																																						uc002mlg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(394-396)TCT>TGT		zinc finger protein 559							70.0	74.0	73.0					19																	9452522		2203	4300	6503	SO:0001583	missense	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9452522C>G	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.395C>G	19.37:g.9452522C>G	ENSP00000377461:p.Ser132Cys					ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Missense_Mutation_p.S124C|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.S196C|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	p.S132C	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN			7	1042	+			132			C2H2-type 2; degenerate.		K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	c.395C>G	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	C	6.880	0.531808	0.13127	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.63096	-0.02;3.13	1.98	0.905	0.19307	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.72740	0.3498	H	0.94808	3.585	0.09310	N	1	B;D;B	0.58620	0.116;0.983;0.104	B;P;B	0.46975	0.033;0.533;0.038	T	0.65784	-0.6084	9	0.66056	D	0.02	.	8.3885	0.32514	0.0:0.7549:0.2451:0.0	.	132;132;52	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	C	132;52;132	ENSP00000442832:S52C;ENSP00000377461:S132C	ENSP00000325393:S132C	S	+	2	0	ZNF559	9313522	0.000000	0.05858	0.001000	0.08648	0.244000	0.25665	-1.710000	0.01888	0.373000	0.24621	0.462000	0.41574	TCT		PASS	0.388	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		30	167	30	167	---	---	---	---
OLFM2	93145	broad.mit.edu	37	19	9965213	9965213	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:9965213G>A	ENST00000264833.4	-	6	1199	c.1014C>T	c.(1012-1014)acC>acT	p.T338T	OLFM2_ENST00000590841.1_Silent_p.T260T	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	338	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.T338T(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CGTTCTGGTTGGTGGTGTACA	0.662																																						uc002mmp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1012-1014)ACC>ACT		olfactomedin 2 precursor							68.0	64.0	65.0					19																	9965213		2203	4300	6503	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9965213G>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1014C>T	19.37:g.9965213G>A						OLFM2_uc002mmo.2_Silent_p.T260T	p.T338T	NM_058164	NP_477512	O95897	NOE2_HUMAN			6	1042	-			338			Olfactomedin-like.		Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.1014C>T	CCDS12221.1																																																																																				PASS	0.662	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			34	135	34	135	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10600447	10600447	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:10600447G>A	ENST00000171111.5	-	4	1955	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	KEAP1_ENST00000393623.2_Missense_Mutation_p.R470C|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.R470C(3)|p.R470S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TAAAGGAGACGATTGAGGACA	0.557																																						uc002moq.1																			4	Substitution - Missense(4)		lung(4)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1408-1410)CGT>TGT		kelch-like ECH-associated protein 1							74.0	61.0	65.0					19																	10600447		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600447G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1408C>T	19.37:g.10600447G>A	ENSP00000171111:p.Arg470Cys					KEAP1_uc002mop.1_Missense_Mutation_p.R188C|KEAP1_uc002mor.1_Missense_Mutation_p.R470C	p.R470C	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		4	1564	-			470			Kelch 3.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1408C>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867320	0.32977	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.77877	-1.13;-1.13	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.055235	0.64402	D	0.000001	T	0.77598	0.4154	M	0.74647	2.275	0.80722	D	1	P	0.40083	0.702	B	0.39217	0.294	T	0.80473	-0.1367	10	0.72032	D	0.01	.	12.5198	0.56052	0.0:0.0:0.8334:0.1666	.	470	Q14145	KEAP1_HUMAN	C	470	ENSP00000171111:R470C;ENSP00000377245:R470C	ENSP00000171111:R470C	R	-	1	0	KEAP1	10461447	1.000000	0.71417	0.997000	0.53966	0.153000	0.21895	1.138000	0.31491	2.752000	0.94435	0.558000	0.71614	CGT		PASS	0.557	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		26	84	26	84	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10602619	10602619	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:10602619C>T	ENST00000171111.5	-	3	1506	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	KEAP1_ENST00000393623.2_Missense_Mutation_p.R320Q|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	320					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.R320Q(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CTTGGGCGCCCGGCAGGGCAT	0.642																																						uc002moq.1																			1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(958-960)CGG>CAG		kelch-like ECH-associated protein 1							32.0	37.0	35.0					19																	10602619		2203	4298	6501	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602619C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.959G>A	19.37:g.10602619C>T	ENSP00000171111:p.Arg320Gln					KEAP1_uc002mop.1_Missense_Mutation_p.R38Q|KEAP1_uc002mor.1_Missense_Mutation_p.R320Q	p.R320Q	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	1115	-			320					B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.959G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225984	0.95173	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.72051	-0.62;-0.62	5.61	5.61	0.85477	.	0.058307	0.64402	D	0.000003	T	0.78679	0.4321	M	0.72894	2.215	0.58432	D	0.999996	D	0.76494	0.999	P	0.61477	0.889	T	0.75783	-0.3196	10	0.27082	T	0.32	.	10.5528	0.45099	0.0:0.9131:0.0:0.0869	.	320	Q14145	KEAP1_HUMAN	Q	320	ENSP00000171111:R320Q;ENSP00000377245:R320Q	ENSP00000171111:R320Q	R	-	2	0	KEAP1	10463619	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.475000	0.53136	2.656000	0.90262	0.561000	0.74099	CGG		PASS	0.642	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		20	83	20	83	---	---	---	---
CYP4F3	4051	broad.mit.edu	37	19	15760021	15760021	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:15760021G>T	ENST00000221307.8	+	6	624	c.577G>T	c.(577-579)Gag>Tag	p.E193*	CYP4F3_ENST00000591058.1_Nonsense_Mutation_p.E193*|CYP4F3_ENST00000585846.1_Nonsense_Mutation_p.E193*|CYP4F3_ENST00000586182.2_Nonsense_Mutation_p.E193*	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	193					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.E193*(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGACATGTTTGAGCACATCAG	0.572																																						uc002nbj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(577-579)GAG>TAG		cytochrome P450, family 4, subfamily F,							115.0	100.0	105.0					19																	15760021		2203	4300	6503	SO:0001587	stop_gained	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15760021G>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.577G>T	19.37:g.15760021G>T	ENSP00000221307:p.Glu193*					CYP4F3_uc010xok.1_Nonsense_Mutation_p.E193*|CYP4F3_uc010xol.1_Nonsense_Mutation_p.E193*|CYP4F3_uc010xom.1_Nonsense_Mutation_p.E44*|CYP4F3_uc002nbk.2_Nonsense_Mutation_p.E193*|CYP4F3_uc010xon.1_5'Flank	p.E193*	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			6	627	+			193					B7Z8Z3|O60634|Q5U740	Nonsense_Mutation	SNP	ENST00000221307.8	37	c.577G>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	36	5.704795	0.96812	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	.	.	.	3.34	3.34	0.38264	.	0.161766	0.39020	U	0.001499	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	10.0373	0.42135	0.0:0.0:1.0:0.0	.	.	.	.	X	120;193	.	ENSP00000221307:E193X	E	+	1	0	CYP4F3	15621021	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.232000	0.65332	1.685000	0.51034	0.491000	0.48974	GAG		PASS	0.572	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		78	162	78	162	---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16973243	16973243	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:16973243G>C	ENST00000248054.5	+	9	1160	c.1139G>C	c.(1138-1140)aGa>aCa	p.R380T	SIN3B_ENST00000379803.1_Missense_Mutation_p.R380T|SIN3B_ENST00000595541.1_5'Flank					SIN3 transcription regulator family member B									p.R380T(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATGAGCGACAGATCCGGGGAC	0.522																																						uc002ney.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1138-1140)AGA>ACA		SIN3 homolog B, transcription regulator							75.0	74.0	74.0					19																	16973243		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16973243G>C	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1139G>C	19.37:g.16973243G>C	ENSP00000248054:p.Arg380Thr					SIN3B_uc002nex.2_Missense_Mutation_p.R312T|SIN3B_uc002nez.1_Missense_Mutation_p.R380T|SIN3B_uc010xpi.1_5'Flank	p.R380T	NM_015260	NP_056075	O75182	SIN3B_HUMAN			9	1153	+			380			Interaction with NCOR1 (By similarity).			Missense_Mutation	SNP	ENST00000248054.5	37	c.1139G>C		.	.	.	.	.	.	.	.	.	.	G	22.0	4.228893	0.79576	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.52983	0.64;0.74	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.79123	2.44	0.80722	D	1	D;P	0.53885	0.963;0.786	P;B	0.51582	0.674;0.316	T	0.66284	-0.5962	10	0.44086	T	0.13	-2.3819	17.6866	0.88257	0.0:0.0:1.0:0.0	.	380;380	O75182-2;O75182	.;SIN3B_HUMAN	T	380	ENSP00000369131:R380T;ENSP00000248054:R380T	ENSP00000248054:R380T	R	+	2	0	SIN3B	16834243	1.000000	0.71417	0.092000	0.20876	0.796000	0.44982	9.611000	0.98342	2.179000	0.69175	0.561000	0.74099	AGA		PASS	0.522	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		22	182	22	182	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17732678	17732678	+	Splice_Site	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:17732678C>T	ENST00000519716.2	-	37	4204	c.4205G>A	c.(4204-4206)gGg>gAg	p.G1402E	UNC13A_ENST00000552293.1_Intron|UNC13A_ENST00000550896.1_Intron|UNC13A_ENST00000428389.2_Splice_Site_p.G1490E|UNC13A_ENST00000551649.1_Splice_Site_p.G1402E|UNC13A_ENST00000252773.7_Missense_Mutation_p.G1402E	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1402	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.G1402E(1)|p.G1490E(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CAAGAGGTTCCCCTGCAGAGA	0.532																																						uc002nhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(4468-4470)GGG>GAG		unc-13 homolog A							124.0	123.0	123.0					19																	17732678		1957	4143	6100	SO:0001630	splice_region_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17732678C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4204-1G>A	19.37:g.17732678C>T							p.G1490E	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			36	4469	-			1402			MHD2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4469G>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	5.295	0.239843	0.10023	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	3.94	3.94	0.45596	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	1.390710	0.06378	U	0.714639	T	0.71879	0.3392	N	0.08118	0	0.38027	D	0.935049	D	0.89917	1.0	D	0.91635	0.999	T	0.66889	-0.5809	10	0.28530	T	0.3	-16.2186	14.3397	0.66617	0.0:1.0:0.0:0.0	.	1402	Q9UPW8	UN13A_HUMAN	E	1402;1490;1402;1402	ENSP00000429562:G1402E;ENSP00000400409:G1490E;ENSP00000252773:G1402E;ENSP00000447236:G1402E	ENSP00000252773:G1402E	G	-	2	0	UNC13A	17593678	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	4.665000	0.61547	2.140000	0.66376	0.306000	0.20318	GGG		PASS	0.532	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	Missense_Mutation	28	221	28	221	---	---	---	---
KIAA1683	80726	broad.mit.edu	37	19	18377278	18377278	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:18377278T>C	ENST00000600328.3	-	3	1265	c.1072A>G	c.(1072-1074)Acg>Gcg	p.T358A	KIAA1683_ENST00000392413.4_Missense_Mutation_p.T358A|KIAA1683_ENST00000600359.3_Missense_Mutation_p.T312A			Q9H0B3	K1683_HUMAN	KIAA1683	358	Thr-rich.					mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.T358A(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTGGTCATCGTGGACGCTGGA	0.552																																						uc002nin.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1072-1074)ACG>GCG		KIAA1683 isoform b							96.0	86.0	89.0					19																	18377278		2203	4300	6503	SO:0001583	missense	80726					mitochondrion		g.chr19:18377278T>C	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1072A>G	19.37:g.18377278T>C	ENSP00000470780:p.Thr358Ala					KIAA1683_uc010ebn.2_Missense_Mutation_p.T358A|KIAA1683_uc010xqe.1_Missense_Mutation_p.T312A	p.T358A	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			3	1288	-			358			Thr-rich.		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.1072A>G	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	T	9.342	1.063345	0.20067	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422	T;T;T	0.03717	3.92;3.91;3.83	3.88	-1.3	0.09259	.	1.035790	0.07709	N	0.941731	T	0.02193	0.0068	N	0.21194	0.64	0.09310	N	1	B;B	0.21225	0.012;0.053	B;B	0.14023	0.004;0.01	T	0.48175	-0.9058	10	0.07644	T	0.81	.	4.2339	0.10616	0.0:0.3834:0.1883:0.4283	.	358;358	E9PDE0;Q9H0B3	.;K1683_HUMAN	A	358;358;312;357	ENSP00000376213:T358A;ENSP00000352774:T358A;ENSP00000404501:T312A	ENSP00000351198:T357A	T	-	1	0	KIAA1683	18238278	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.288000	0.02783	-0.186000	0.10533	0.460000	0.39030	ACG		PASS	0.552	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			49	243	49	243	---	---	---	---
ZNF493	284443	broad.mit.edu	37	19	21606071	21606071	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:21606071C>T	ENST00000355504.4	+	2	492	c.226C>T	c.(226-228)Cat>Tat	p.H76Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.H204Y	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	76					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H76Y(1)|p.H204Y(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TAAAAGAATTCATATTAGAGA	0.348																																						uc002npx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(226-228)CAT>TAT		zinc finger protein 493 isoform 1							52.0	58.0	56.0					19																	21606071		2202	4295	6497	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606071C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.226C>T	19.37:g.21606071C>T	ENSP00000347691:p.His76Tyr					ZNF493_uc002npw.2_Missense_Mutation_p.H204Y|ZNF493_uc002npy.2_Missense_Mutation_p.H76Y	p.H76Y	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	506	+			76			C2H2-type 2.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.226C>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	10.97	1.502346	0.26949	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.28895	1.59;1.59	1.05	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54967	0.1891	M	0.87180	2.865	0.80722	D	1	B;D	0.67145	0.187;0.996	B;D	0.75484	0.071;0.986	T	0.57877	-0.7735	9	0.72032	D	0.01	.	8.9079	0.35535	0.0:1.0:0.0:0.0	.	76;204	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Y	204;76	ENSP00000376110:H204Y;ENSP00000347691:H76Y	ENSP00000347691:H76Y	H	+	1	0	ZNF493	21397911	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	0.577000	0.23758	0.452000	0.26830	0.460000	0.39030	CAT		PASS	0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		10	131	10	131	---	---	---	---
ZNF429	353088	broad.mit.edu	37	19	21720462	21720462	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:21720462C>T	ENST00000358491.4	+	4	1815	c.1607C>T	c.(1606-1608)cCt>cTt	p.P536L	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	536					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P536L(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GGAGAGAAACCTTACAAATGT	0.368																																						uc002nqd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1606-1608)CCT>CTT		zinc finger protein 429							40.0	45.0	43.0					19																	21720462		2134	4267	6401	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720462C>T	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1607C>T	19.37:g.21720462C>T	ENSP00000351280:p.Pro536Leu					ZNF429_uc010ecu.1_Intron	p.P536L	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			4	1744	+			536					A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.1607C>T	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	8.146	0.786270	0.16189	.	.	ENSG00000197013	ENST00000358491	T	0.17054	2.3	0.876	0.876	0.19138	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22166	0.0534	L	0.60957	1.885	0.38425	D	0.946298	D	0.53151	0.958	P	0.51833	0.681	T	0.08973	-1.0696	9	0.54805	T	0.06	.	5.2484	0.15510	0.337:0.663:0.0:0.0	.	536	Q86V71	ZN429_HUMAN	L	536	ENSP00000351280:P536L	ENSP00000351280:P536L	P	+	2	0	ZNF429	21512302	0.324000	0.24652	0.335000	0.25508	0.335000	0.28730	1.019000	0.30014	0.293000	0.22520	0.298000	0.19748	CCT		PASS	0.368	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		7	104	7	104	---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21992534	21992534	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:21992534C>T	ENST00000354959.4	-	4	474	c.305G>A	c.(304-306)aGa>aAa	p.R102K	ZNF43_ENST00000594012.1_Missense_Mutation_p.R96K|ZNF43_ENST00000598381.1_Missense_Mutation_p.R96K|ZNF43_ENST00000595461.1_Missense_Mutation_p.R96K	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R102K(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTTATATCTTCTCAGTGTCGC	0.313																																						uc002nqj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(304-306)AGA>AAA		zinc finger protein 43							66.0	70.0	69.0					19																	21992534		2203	4295	6498	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21992534C>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.305G>A	19.37:g.21992534C>T	ENSP00000347045:p.Arg102Lys					ZNF43_uc010ecv.2_Missense_Mutation_p.R96K|ZNF43_uc002nql.2_Missense_Mutation_p.R96K|ZNF43_uc002nqm.2_Missense_Mutation_p.R96K|ZNF43_uc002nqk.2_Missense_Mutation_p.R32K	p.R102K	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	435	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	102					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.305G>A	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	C	5.869	0.344568	0.11126	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.04809	3.55	1.07	-2.14	0.07123	.	.	.	.	.	T	0.07413	0.0187	L	0.41961	1.31	0.09310	N	1	D	0.67145	0.996	P	0.58266	0.836	T	0.13575	-1.0504	9	0.34782	T	0.22	.	1.0195	0.01515	0.2079:0.3937:0.2076:0.1908	.	102	P17038	ZNF43_HUMAN	K	101;102	ENSP00000347045:R102K	ENSP00000347045:R102K	R	-	2	0	ZNF43	21784374	0.029000	0.19370	0.003000	0.11579	0.015000	0.08874	-0.710000	0.05024	-1.311000	0.02309	-0.834000	0.03071	AGA		PASS	0.313	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		29	158	29	158	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22155700	22155700	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:22155700C>T	ENST00000397126.4	-	4	2284	c.2136G>A	c.(2134-2136)aaG>aaA	p.K712K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	712					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K612K(2)|p.K712K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATGAATTCTCTTATGTTCCA	0.368																																						uc002nqp.2																			3	Substitution - coding silent(3)		lung(3)	ovary(5)|skin(2)	7						c.(1834-1836)AAG>AAA		zinc finger protein 208							34.0	35.0	34.0					19																	22155700		1977	4179	6156	SO:0001819	synonymous_variant	7757							g.chr19:22155700C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2136G>A	19.37:g.22155700C>T						ZNF208_uc002nqo.1_Intron	p.K612K	NM_007153	NP_009084					5	1985	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1836G>A	CCDS54240.1																																																																																				PASS	0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		19	106	19	106	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363232	22363232	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:22363232G>T	ENST00000397121.2	-	3	1604	c.1287C>A	c.(1285-1287)gcC>gcA	p.A429A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A429A(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACCAGCTGAAGGCTTTGCCAC	0.443																																						uc002nqs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1285-1287)GCC>GCA		zinc finger protein 676							71.0	70.0	70.0					19																	22363232		2046	4188	6234	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363232G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1287C>A	19.37:g.22363232G>T							p.A429A	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1605	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	429			C2H2-type 10.		A8MVX5	Silent	SNP	ENST00000397121.2	37	c.1287C>A	CCDS42539.1																																																																																				PASS	0.443	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		60	169	60	169	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363386	22363386	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:22363386G>A	ENST00000397121.2	-	3	1450	c.1133C>T	c.(1132-1134)tCa>tTa	p.S378L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S378L(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATTAAGGGTTGAGACCTTACT	0.393																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1132-1134)TCA>TTA		zinc finger protein 676							83.0	88.0	86.0					19																	22363386		2151	4264	6415	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363386G>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1133C>T	19.37:g.22363386G>A	ENSP00000380310:p.Ser378Leu						p.S378L	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1451	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	378			C2H2-type 8.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1133C>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	10.09	1.254987	0.22965	.	.	ENSG00000196109	ENST00000397121	T	0.36699	1.24	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47801	0.1465	L	0.54863	1.705	0.09310	N	1	D	0.69078	0.997	D	0.77004	0.989	T	0.36696	-0.9737	9	0.66056	D	0.02	.	6.5475	0.22414	0.0:0.0:0.7218:0.2782	.	378	Q8N7Q3	ZN676_HUMAN	L	378	ENSP00000380310:S378L	ENSP00000380310:S378L	S	-	2	0	ZNF676	22155226	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-0.558000	0.05978	0.181000	0.19994	0.184000	0.17185	TCA		PASS	0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		9	174	9	174	---	---	---	---
ZNF98	148198	broad.mit.edu	37	19	22574587	22574587	+	Missense_Mutation	SNP	G	G	A	rs377711331	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:22574587G>A	ENST00000357774.5	-	4	1571	c.1450C>T	c.(1450-1452)Cat>Tat	p.H484Y		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H484Y(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TCTCCAGTATGAATTACCTTA	0.378																																						uc002nqt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1450-1452)CAT>TAT		zinc finger protein 98							60.0	54.0	56.0					19																	22574587		2119	4203	6322	SO:0001583	missense	148198				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22574587G>A		CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1450C>T	19.37:g.22574587G>A	ENSP00000350418:p.His484Tyr						p.H484Y	NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN			4	1572	-		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)	484			C2H2-type 11.			Missense_Mutation	SNP	ENST00000357774.5	37	c.1450C>T	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	12.08	1.830629	0.32329	.	.	ENSG00000197360	ENST00000357774	T	0.67523	-0.27	1.26	0.0312	0.14170	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84284	0.5438	H	0.96208	3.785	0.23396	N	0.997762	D	0.89917	1.0	D	0.97110	1.0	T	0.71533	-0.4564	9	0.72032	D	0.01	.	6.5853	0.22616	0.179:0.0:0.821:0.0	.	484	A6NK75	ZNF98_HUMAN	Y	484	ENSP00000350418:H484Y	ENSP00000350418:H484Y	H	-	1	0	ZNF98	22366427	1.000000	0.71417	0.001000	0.08648	0.004000	0.04260	6.563000	0.73964	-0.156000	0.11079	-0.734000	0.03567	CAT		PASS	0.378	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626		21	172	21	172	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039095	31039095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:31039095C>T	ENST00000355537.3	+	4	2716	c.2569C>T	c.(2569-2571)Cag>Tag	p.Q857*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	857					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.Q857*(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCTGCATCTCAGCAGTGGAC	0.577																																						uc002nsu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2569-2571)CAG>TAG		zinc finger protein 536							64.0	70.0	68.0					19																	31039095		2203	4300	6503	SO:0001587	stop_gained	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039095C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2569C>T	19.37:g.31039095C>T	ENSP00000347730:p.Gln857*					ZNF536_uc010edd.1_Nonsense_Mutation_p.Q857*	p.Q857*	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	2707	+	Esophageal squamous(110;0.0834)		857					A2RU18	Nonsense_Mutation	SNP	ENST00000355537.3	37	c.2569C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	32	5.131133	0.94473	.	.	ENSG00000198597	ENST00000355537	.	.	.	5.73	5.73	0.89815	.	0.165862	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-36.2424	19.882	0.96901	0.0:1.0:0.0:0.0	.	.	.	.	X	857	.	ENSP00000347730:Q857X	Q	+	1	0	ZNF536	35730935	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.474000	0.81024	2.714000	0.92807	0.591000	0.81541	CAG		PASS	0.577	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		24	280	24	280	---	---	---	---
CD22	933	broad.mit.edu	37	19	35837110	35837110	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:35837110C>G	ENST00000085219.5	+	13	2450	c.2384C>G	c.(2383-2385)aCt>aGt	p.T795S	CD22_ENST00000594250.1_Missense_Mutation_p.T618S|CD22_ENST00000544992.2_3'UTR|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000341773.6_Missense_Mutation_p.T618S|CD22_ENST00000419549.2_Missense_Mutation_p.T623S|CD22_ENST00000270311.6_Missense_Mutation_p.T610S|CD22_ENST00000536635.2_Missense_Mutation_p.T707S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	795					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.T795S(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GACACGGTCACTTATTCAGCA	0.602																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(2383-2385)ACT>AGT		CD22 molecule precursor	OspA lipoprotein(DB00045)						117.0	100.0	106.0					19																	35837110		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35837110C>G	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2384C>G	19.37:g.35837110C>G	ENSP00000085219:p.Thr795Ser					CD22_uc010xst.1_Missense_Mutation_p.T623S|CD22_uc010edu.2_Missense_Mutation_p.T707S|CD22_uc010edv.2_3'UTR|CD22_uc002nzb.3_Missense_Mutation_p.T618S|CD22_uc010edx.2_RNA	p.T795S	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		13	2461	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		795			Cytoplasmic (Potential).|ITIM motif 2.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.2384C>G	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.431034	0.25726	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000270311;ENST00000419549	T;T;T;T;T	0.59772	0.82;0.34;0.24;0.77;0.89	3.67	2.63	0.31362	.	0.000000	0.46442	D	0.000288	T	0.69324	0.3098	M	0.73598	2.24	0.27769	N	0.943558	D;D;D;D	0.76494	0.976;0.999;0.976;0.999	P;D;P;D	0.72982	0.749;0.96;0.749;0.979	T	0.59445	-0.7453	10	0.38643	T	0.18	.	7.3593	0.26737	0.0:0.876:0.0:0.124	.	623;707;795;618	Q32M46;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	S	795;707;618;610;623	ENSP00000085219:T795S;ENSP00000442279:T707S;ENSP00000339349:T618S;ENSP00000270311:T610S;ENSP00000403822:T623S	ENSP00000085219:T795S	T	+	2	0	CD22	40528950	0.969000	0.33509	0.996000	0.52242	0.013000	0.08279	2.132000	0.42083	0.897000	0.36392	-0.657000	0.03884	ACT		PASS	0.602	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		10	276	10	276	---	---	---	---
ETV2	2116	broad.mit.edu	37	19	36135685	36135685	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:36135685C>T	ENST00000403402.1	+	6	1266	c.960C>T	c.(958-960)ttC>ttT	p.F320F	ETV2_ENST00000479824.1_Silent_p.F227F|ETV2_ENST00000402764.2_Silent_p.F320F|ETV2_ENST00000379026.2_Silent_p.F348F|ETV2_ENST00000379023.4_Silent_p.F133F			O00321	ETV2_HUMAN	ets variant 2	320					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	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 RNA polymerase II transcription factor activity (GO:0000981)	p.F348F(1)		lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGTACCGCTTCGGGGGCCGCG	0.627																																						uc002oas.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1042-1044)TTC>TTT		ets variant gene 2							27.0	26.0	26.0					19																	36135685		2200	4295	6495	SO:0001819	synonymous_variant	2116						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:36135685C>T	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"""ets variant gene 2"""			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.960C>T	19.37:g.36135685C>T						ETV2_uc002oar.2_Silent_p.F320F|ETV2_uc002oat.2_Silent_p.F227F|ETV2_uc002oau.2_Silent_p.F133F	p.F348F	NM_014209	NP_055024	O00321	ETV2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	1483	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		319					A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Silent	SNP	ENST00000403402.1	37	c.1044C>T	CCDS32995.2																																																																																				PASS	0.627	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318848.2	XM_209182		4	26	4	26	---	---	---	---
ALKBH6	84964	broad.mit.edu	37	19	36501816	36501816	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:36501816G>C	ENST00000252984.7	-	6	468	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	SYNE4_ENST00000324444.3_5'Flank|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000495116.2_Intron|SYNE4_ENST00000340477.5_5'Flank|ALKBH6_ENST00000486389.1_Missense_Mutation_p.L83V|ALKBH6_ENST00000485128.1_Missense_Mutation_p.L106V|ALKBH6_ENST00000378875.3_Missense_Mutation_p.L134V			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	106	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.L134V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCCCAGGCAGATACTGGTTC	0.617																																						uc002oct.2																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)CTG>GTG		alkB, alkylation repair homolog 6 isoform 2							87.0	72.0	77.0					19																	36501816		2203	4300	6503	SO:0001583	missense	84964					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:36501816G>C	BM713594	CCDS12485.2, CCDS74342.1	19q13.12	2008-02-05			ENSG00000239382	ENSG00000239382		"""Alkylation repair homologs"""	28243	protein-coding gene	gene with protein product		613304				8889548	Standard	NM_032878		Approved	MGC15677	uc002ocv.1	Q3KRA9	OTTHUMG00000048137	ENST00000252984.7:c.316C>G	19.37:g.36501816G>C	ENSP00000252984:p.Leu106Val					C19orf46_uc002ocr.1_5'Flank|C19orf46_uc002ocs.1_5'Flank|C19orf46_uc002ocq.1_5'Flank|C19orf46_uc010een.1_5'Flank|ALKBH6_uc002ocv.1_Missense_Mutation_p.L134V|ALKBH6_uc002ocx.1_Missense_Mutation_p.L37V|ALKBH6_uc002ocw.1_Missense_Mutation_p.L134V|ALKBH6_uc010eeo.1_Missense_Mutation_p.L106V|ALKBH6_uc010eep.1_Missense_Mutation_p.L134V	p.L106V	NM_032878	NP_116267	Q3KRA9	ALKB6_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		5	416	-	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		106			Fe2OG dioxygenase.		A5LGM8|A6NLP1|A8MU96	Missense_Mutation	SNP	ENST00000252984.7	37	c.316C>G		.	.	.	.	.	.	.	.	.	.	G	15.36	2.811161	0.50527	.	.	ENSG00000239382	ENST00000378875;ENST00000485128;ENST00000252984;ENST00000433672	T;T;T	0.30448	2.76;1.53;2.76	5.16	4.11	0.48088	Oxoglutarate/iron-dependent oxygenase (2);	.	.	.	.	T	0.31199	0.0789	M	0.62209	1.925	0.30488	N	0.771695	B;P;P;P	0.42039	0.056;0.497;0.769;0.6	B;B;B;B	0.40940	0.032;0.16;0.344;0.296	T	0.17349	-1.0372	9	0.29301	T	0.29	.	9.9989	0.41916	0.0971:0.0:0.9029:0.0	.	106;127;134;106	B0AZV3;B4E3P3;Q3KRA9-2;Q3KRA9	.;.;.;ALKB6_HUMAN	V	134;106;106;106	ENSP00000368152:L134V;ENSP00000436742:L106V;ENSP00000252984:L106V	ENSP00000252984:L106V	L	-	1	2	ALKBH6	41193656	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.856000	0.39389	2.410000	0.81850	0.591000	0.81541	CTG		PASS	0.617	ALKBH6-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000109531.4	NM_032878		12	219	12	219	---	---	---	---
ZNF527	84503	broad.mit.edu	37	19	37880588	37880588	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:37880588G>T	ENST00000436120.2	+	5	1744	c.1637G>T	c.(1636-1638)aGa>aTa	p.R546I	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R546I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAACATCAAAGAATTCATACT	0.403																																						uc010efk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1636-1638)AGA>ATA		zinc finger protein 527							60.0	66.0	64.0					19																	37880588		2198	4299	6497	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880588G>T	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1637G>T	19.37:g.37880588G>T	ENSP00000390179:p.Arg546Ile					ZNF527_uc002ogf.3_Missense_Mutation_p.R514I|ZNF527_uc010xtq.1_RNA	p.R546I	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1748	+			546			C2H2-type 10.		B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.1637G>T	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189572	0.57909	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.84	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37530	N	0.002060	T	0.64983	0.2648	M	0.66939	2.045	0.80722	D	1	D;D	0.57899	0.981;0.976	P;P	0.61070	0.883;0.813	T	0.66260	-0.5968	9	0.59425	D	0.04	.	7.1961	0.25853	0.1053:0.2789:0.6158:0.0	.	546;514	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	I	546;514;494	.	ENSP00000325231:R514I	R	+	2	0	ZNF527	42572428	0.001000	0.12720	0.921000	0.36526	0.992000	0.81027	0.867000	0.27968	1.997000	0.58415	0.655000	0.94253	AGA		PASS	0.403	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		11	161	11	161	---	---	---	---
EIF3K	27335	broad.mit.edu	37	19	39116687	39116687	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:39116687G>A	ENST00000538434.1	+	3	273	c.38G>A	c.(37-39)cGa>cAa	p.R13Q	EIF3K_ENST00000593149.1_Missense_Mutation_p.R13Q|EIF3K_ENST00000248342.4_Missense_Mutation_p.R100Q|EIF3K_ENST00000588934.1_Missense_Mutation_p.R100Q|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000545173.2_Missense_Mutation_p.R100Q|EIF3K_ENST00000592558.1_Missense_Mutation_p.R100Q					eukaryotic translation initiation factor 3, subunit K									p.R100Q(1)	EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGCCAATCCGACAGATTTTG	0.587																																						uc002oiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(298-300)CGA>CAA		eukaryotic translation initiation factor 3,							130.0	115.0	120.0					19																	39116687		2203	4300	6503	SO:0001583	missense	27335				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity	g.chr19:39116687G>A	AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"""eukaryotic translation initiation factor 3, subunit 12"""	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000538434.1:c.38G>A	19.37:g.39116687G>A	ENSP00000440999:p.Arg13Gln					EIF3K_uc010xuh.1_Missense_Mutation_p.R100Q|EIF3K_uc010xui.1_Missense_Mutation_p.R13Q	p.R100Q	NM_013234	NP_037366	Q9UBQ5	EIF3K_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		4	486	+	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		100						Missense_Mutation	SNP	ENST00000538434.1	37	c.299G>A		.	.	.	.	.	.	.	.	.	.	G	13.48	2.250452	0.39797	.	.	ENSG00000178982	ENST00000248342;ENST00000538434;ENST00000545173	.	.	.	4.29	4.29	0.51040	Translation initiation factor 3, subunit 12, N-terminal, eukaryotic (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.35913	0.0948	N	0.24115	0.695	0.80722	D	1	P;B;B	0.40731	0.728;0.178;0.145	B;B;B	0.28916	0.096;0.011;0.011	T	0.49184	-0.8966	9	0.87932	D	0	-14.3521	16.3713	0.83361	0.0:0.0:1.0:0.0	.	13;100;100	B4DQ48;B7ZAM9;Q9UBQ5	.;.;EIF3K_HUMAN	Q	100;13;100	.	ENSP00000248342:R100Q	R	+	2	0	EIF3K	43808527	1.000000	0.71417	0.990000	0.47175	0.750000	0.42670	7.292000	0.78731	2.321000	0.78463	0.563000	0.77884	CGA		PASS	0.587	EIF3K-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453409.1	NM_013234		50	341	50	341	---	---	---	---
PSG8	440533	broad.mit.edu	37	19	43268417	43268417	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:43268417G>T	ENST00000306511.4	-	2	178	c.81C>A	c.(79-81)ttC>ttA	p.F27L	PSG8_ENST00000404209.4_Missense_Mutation_p.F27L|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.F27L	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	27						extracellular region (GO:0005576)		p.F27L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTGGGTTCCAGAAGTTTAAAA	0.488																																						uc002ouo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)TTC>TTA		pregnancy specific beta-1-glycoprotein 8 isoform							137.0	138.0	137.0					19																	43268417		2203	4300	6503	SO:0001583	missense	440533					extracellular region		g.chr19:43268417G>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.81C>A	19.37:g.43268417G>T	ENSP00000305005:p.Phe27Leu					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Missense_Mutation_p.F27L|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_Translation_Start_Site|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Missense_Mutation_p.F27L|PSG8_uc002oum.3_Missense_Mutation_p.F27L|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.F27L	p.F27L	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			2	179	-		Prostate(69;0.00899)	27					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.81C>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	g	10.41	1.343174	0.24339	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.17370	2.28;3.39;2.29	1.35	1.35	0.21983	.	.	.	.	.	T	0.21631	0.0521	M	0.87038	2.855	0.09310	N	0.999999	B;B;P;B;B	0.45531	0.103;0.033;0.86;0.008;0.005	B;B;B;B;B	0.37692	0.038;0.03;0.256;0.056;0.025	T	0.25710	-1.0124	9	0.72032	D	0.01	.	6.1568	0.20342	0.0:0.0:1.0:0.0	.	27;27;27;27;27	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	L	27	ENSP00000385869:F27L;ENSP00000386090:F27L;ENSP00000305005:F27L	ENSP00000305005:F27L	F	-	3	2	PSG8	47960257	0.807000	0.29009	0.377000	0.26055	0.063000	0.16089	2.204000	0.42761	1.063000	0.40649	0.184000	0.17185	TTC		PASS	0.488	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			40	372	40	372	---	---	---	---
CADM4	199731	broad.mit.edu	37	19	44128312	44128312	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:44128312G>A	ENST00000222374.2	-	8	1059	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	337					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.I337I(1)		endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GCACACATATGATCAGAAACA	0.612																																						uc002oxc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1009-1011)ATC>ATT		cell adhesion molecule 4 precursor							163.0	129.0	140.0					19																	44128312		2203	4300	6503	SO:0001819	synonymous_variant	199731				cell adhesion	integral to membrane		g.chr19:44128312G>A	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.1011C>T	19.37:g.44128312G>A							p.I337I	NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN			8	1060	-		Prostate(69;0.0199)	337			Helical; (Potential).		B2R7L5|Q9Y4A4	Silent	SNP	ENST00000222374.2	37	c.1011C>T	CCDS12627.1																																																																																				PASS	0.612	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		42	202	42	202	---	---	---	---
ZNF227	7770	broad.mit.edu	37	19	44739709	44739709	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:44739709G>A	ENST00000313040.7	+	6	1331	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	ZNF227_ENST00000589005.1_Missense_Mutation_p.E325K|ZNF227_ENST00000391961.2_Missense_Mutation_p.E325K	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E376K(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AGTCCACACTGAAGAAAAACC	0.438																																						uc002oyu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1126-1128)GAA>AAA		zinc finger protein 227							75.0	84.0	81.0					19																	44739709		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44739709G>A	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1126G>A	19.37:g.44739709G>A	ENSP00000321049:p.Glu376Lys					ZNF227_uc010xwu.1_Missense_Mutation_p.E325K|ZNF227_uc002oyv.2_Missense_Mutation_p.E376K|ZNF227_uc010xwv.1_Missense_Mutation_p.E325K|ZNF227_uc010xww.1_Missense_Mutation_p.E297K|ZNF227_uc002oyw.2_Missense_Mutation_p.E348K|ZNF227_uc010ejh.2_Missense_Mutation_p.E369K|ZNF235_uc002oyx.1_Intron	p.E376K	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN			6	1331	+		Prostate(69;0.0435)	376					B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.1126G>A	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049463	0.75846	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.15834	2.39;2.39	4.45	3.41	0.39046	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26304	0.0642	L	0.38649	1.16	0.80722	D	1	B;D;P;B	0.65815	0.108;0.995;0.659;0.108	B;D;B;B	0.64506	0.113;0.926;0.191;0.113	T	0.01309	-1.1389	9	0.62326	D	0.03	.	8.7346	0.34521	0.189:0.0:0.811:0.0	.	297;355;328;376	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	K	376;333;325;355;77	ENSP00000321049:E376K;ENSP00000375823:E325K	ENSP00000321049:E376K	E	+	1	0	ZNF227	49431549	0.705000	0.27846	0.714000	0.30535	0.998000	0.95712	2.607000	0.46300	0.977000	0.38444	0.563000	0.77884	GAA		PASS	0.438	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		21	108	21	108	---	---	---	---
SIX5	147912	broad.mit.edu	37	19	46269050	46269050	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:46269050G>A	ENST00000317578.6	-	3	2310	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L	AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	643					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.L643L(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		AGTTGGGCAGGAGGCCAGGGG	0.687																																						uc002pdb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1927-1929)CTC>CTT		SIX homeobox 5							18.0	22.0	20.0					19																	46269050		2191	4270	6461	SO:0001819	synonymous_variant	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46269050G>A	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.1929C>T	19.37:g.46269050G>A						SIX5_uc002pdc.2_3'UTR	p.L643L	NM_175875	NP_787071	Q8N196	SIX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	3	2324	-		Ovarian(192;0.0308)|all_neural(266;0.112)	643						Silent	SNP	ENST00000317578.6	37	c.1929C>T	CCDS12673.1																																																																																				PASS	0.687	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		6	108	6	108	---	---	---	---
GYS1	2997	broad.mit.edu	37	19	49489218	49489218	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:49489218G>A	ENST00000323798.3	-	4	763	c.567C>T	c.(565-567)tgC>tgT	p.C189C	GYS1_ENST00000541188.1_Silent_p.C109C|GYS1_ENST00000263276.6_Silent_p.C125C|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Silent_p.C109C|GYS1_ENST00000457974.1_5'Flank	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	189					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)	p.C189C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CACGACACAGGCAGAGTCCAA	0.607																																						uc002plp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(565-567)TGC>TGT		glycogen synthase 1 (muscle) isoform 1							74.0	61.0	66.0					19																	49489218		2203	4300	6503	SO:0001819	synonymous_variant	2997				glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding	g.chr19:49489218G>A		CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.567C>T	19.37:g.49489218G>A						GYS1_uc010xzy.1_Intron|GYS1_uc010emm.2_Silent_p.C125C|GYS1_uc010xzz.1_Silent_p.C109C|GYS1_uc010yaa.1_RNA	p.C189C	NM_002103	NP_002094	P13807	GYS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)	4	808	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	189					Q9BTT9	Silent	SNP	ENST00000323798.3	37	c.567C>T	CCDS12747.1																																																																																				PASS	0.607	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319791.1	NM_002103		24	110	24	110	---	---	---	---
SIGLEC6	946	broad.mit.edu	37	19	52033942	52033942	+	Silent	SNP	A	A	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:52033942A>G	ENST00000425629.3	-	3	853	c.699T>C	c.(697-699)aaT>aaC	p.N233N	SIGLEC6_ENST00000359982.4_Silent_p.N233N|SIGLEC6_ENST00000346477.3_Silent_p.N233N|SIGLEC6_ENST00000343300.4_Silent_p.N233N|SIGLEC6_ENST00000436458.1_Silent_p.N197N|SIGLEC6_ENST00000391797.3_Silent_p.N222N|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	233					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.N233N(1)|p.N222N(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CACAGGAGACATTGAGCTGGA	0.627																																						uc002pwy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(697-699)AAT>AAC		sialic acid binding Ig-like lectin 6 isoform 1							66.0	73.0	70.0					19																	52033942		2196	4297	6493	SO:0001819	synonymous_variant	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033942A>G	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.699T>C	19.37:g.52033942A>G						SIGLEC6_uc002pwz.2_Silent_p.N233N|SIGLEC6_uc002pxa.2_Silent_p.N233N|SIGLEC6_uc010ydb.1_Silent_p.N186N|SIGLEC6_uc010ydc.1_Silent_p.N222N|SIGLEC6_uc010eoz.1_Silent_p.N211N|SIGLEC6_uc010epb.1_Silent_p.N186N|SIGLEC6_uc010epa.1_Silent_p.N222N	p.N233N	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	861	-		all_neural(266;0.0199)	233			Extracellular (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	ENST00000425629.3	37	c.699T>C	CCDS12834.3																																																																																				PASS	0.627	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		78	209	78	209	---	---	---	---
ZNF816	125893	broad.mit.edu	37	19	53454331	53454331	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:53454331C>G	ENST00000357666.4	-	5	997	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.E233Q	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E233Q(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TTGCCACACTCATTACTTTGG	0.353																																						uc002qal.1																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)GAG>CAG		zinc finger protein 816A							88.0	91.0	90.0					19																	53454331		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454331C>G	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.697G>C	19.37:g.53454331C>G	ENSP00000350295:p.Glu233Gln					ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.E217Q	p.E233Q	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	5	998	-			233			C2H2-type 1.		A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.697G>C	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	0.391	-0.923683	0.02377	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.15952	2.38;2.38	1.75	0.379	0.16213	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11537	0.0281	L	0.28556	0.865	0.30901	N	0.729287	B	0.15141	0.012	B	0.12837	0.008	T	0.15407	-1.0438	9	0.44086	T	0.13	.	7.4768	0.27380	0.0:0.7293:0.2707:0.0	.	233	Q0VGE8	ZN816_HUMAN	Q	233	ENSP00000350295:E233Q;ENSP00000403266:E233Q	ENSP00000350295:E233Q	E	-	1	0	ZNF816	58146143	0.000000	0.05858	0.595000	0.28798	0.032000	0.12392	-0.172000	0.09868	0.960000	0.38005	0.194000	0.17425	GAG		PASS	0.353	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665		24	187	24	187	---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53668754	53668754	+	Missense_Mutation	SNP	C	C	A	rs374379778		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:53668754C>A	ENST00000600412.1	-	2	909	c.794G>T	c.(793-795)cGc>cTc	p.R265L	ZNF665_ENST00000396424.3_Missense_Mutation_p.R330L|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R330L(1)|p.R265L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CAGGCTTGAGCGAACACTAAA	0.428																																						uc010eqm.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(988-990)CGC>CTC		zinc finger protein 665							119.0	124.0	122.0					19																	53668754		2203	4299	6502	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668754C>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.794G>T	19.37:g.53668754C>A	ENSP00000469154:p.Arg265Leu						p.R330L	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	1089	-			265			C2H2-type 6.		A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.989G>T		.	.	.	.	.	.	.	.	.	.	C	9.402	1.078158	0.20227	.	.	ENSG00000197497	ENST00000396424	T	0.01015	5.44	2.26	-4.52	0.03472	.	.	.	.	.	T	0.00524	0.0017	N	0.05012	-0.13	0.09310	N	1	P	0.41929	0.765	B	0.41813	0.367	T	0.40608	-0.9554	9	0.10902	T	0.67	.	5.1546	0.15029	0.1381:0.3683:0.0:0.4936	.	330	Q9H7R5-2	.	L	330	ENSP00000379702:R330L	ENSP00000379702:R330L	R	-	2	0	ZNF665	58360566	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.991000	0.00162	-1.719000	0.01382	-0.436000	0.05848	CGC		PASS	0.428	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		10	260	10	260	---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53669024	53669024	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:53669024C>T	ENST00000600412.1	-	2	639	c.524G>A	c.(523-525)gGa>gAa	p.G175E	ZNF665_ENST00000396424.3_Missense_Mutation_p.G240E|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G240E(1)|p.G175E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GAAGACCTTTCCACATTCATT	0.403																																						uc010eqm.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(718-720)GGA>GAA		zinc finger protein 665							105.0	114.0	111.0					19																	53669024		2203	4299	6502	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53669024C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.524G>A	19.37:g.53669024C>T	ENSP00000469154:p.Gly175Glu						p.G240E	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	819	-			175			C2H2-type 3.		A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.719G>A		.	.	.	.	.	.	.	.	.	.	C	15.00	2.703763	0.48412	.	.	ENSG00000197497	ENST00000396424	T	0.01221	5.15	2.44	1.33	0.21861	.	.	.	.	.	T	0.03827	0.0108	L	0.42529	1.33	0.28087	N	0.931978	D	0.69078	0.997	D	0.63957	0.92	T	0.38779	-0.9645	9	0.72032	D	0.01	.	7.6118	0.28135	0.0:0.8517:0.0:0.1483	.	240	Q9H7R5-2	.	E	240	ENSP00000379702:G240E	ENSP00000379702:G240E	G	-	2	0	ZNF665	58360836	0.000000	0.05858	0.006000	0.13384	0.140000	0.21249	-0.789000	0.04609	0.305000	0.22832	0.543000	0.68304	GGA		PASS	0.403	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		52	258	52	258	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54665951	54665951	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:54665951C>T	ENST00000376591.4	-	11	1722	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	TMC4_ENST00000416963.1_Missense_Mutation_p.E113K|TMC4_ENST00000476013.2_5'Flank|LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.E525K	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	531					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E113K(1)|p.E525K(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCAGCACCTCGTCGGGCACC	0.652																																						uc010erf.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1591-1593)GAG>AAG		transmembrane channel-like 4 isoform 1							37.0	40.0	39.0					19																	54665951		2202	4299	6501	SO:0001583	missense	147798					integral to membrane		g.chr19:54665951C>T	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1591G>A	19.37:g.54665951C>T	ENSP00000365776:p.Glu531Lys					LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Missense_Mutation_p.E245K|TMC4_uc002qdo.2_Missense_Mutation_p.E525K	p.E531K	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			11	1723	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		531			Extracellular (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.1591G>A	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915701	0.73098	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.63580	-0.05;-0.05;-0.05	4.9	4.9	0.64082	.	0.101661	0.64402	D	0.000003	T	0.70666	0.3250	L	0.54323	1.7	0.39117	D	0.961584	D;P;D	0.76494	0.999;0.763;0.987	D;B;P	0.64410	0.925;0.269;0.725	T	0.74426	-0.3669	10	0.72032	D	0.01	-25.2201	9.7116	0.40249	0.0:0.903:0.0:0.097	.	531;525;113	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	K	525;113;531	ENSP00000301187:E525K;ENSP00000405023:E113K;ENSP00000365776:E531K	ENSP00000301187:E525K	E	-	1	0	TMC4	59357763	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.072000	0.57563	2.463000	0.83235	0.556000	0.70494	GAG		PASS	0.652	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			15	51	15	51	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55085814	55085814	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:55085814C>T	ENST00000251377.3	+	4	250	c.117C>T	c.(115-117)atC>atT	p.I39I	LILRA2_ENST00000251376.3_Silent_p.I39I|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.I27I|LILRA2_ENST00000391738.3_Silent_p.I39I|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	39	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.I39I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GCTCTGTGATCATCCAGGGAA	0.542																																						uc002qgg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(115-117)ATC>ATT		leukocyte immunoglobulin-like receptor,							93.0	97.0	96.0					19																	55085814		2203	4300	6503	SO:0001819	synonymous_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55085814C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.117C>T	19.37:g.55085814C>T						LILRA2_uc010ern.2_Silent_p.I39I|LILRA2_uc002qgf.2_Silent_p.I39I|LILRA2_uc010yfe.1_Silent_p.I39I|LILRA2_uc010yff.1_Silent_p.I27I|LILRA2_uc010ero.2_Silent_p.I27I|LILRA2_uc010yfg.1_Silent_p.I39I	p.I39I	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	3	206	+			39			Extracellular (Potential).|Ig-like C2-type 1.		O75020	Silent	SNP	ENST00000251377.3	37	c.117C>T	CCDS46179.1																																																																																				PASS	0.542	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			39	313	39	313	---	---	---	---
ZSCAN5B	342933	broad.mit.edu	37	19	56702224	56702224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:56702224G>A	ENST00000586855.2	-	4	1034	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.Q241*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	241					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q241*(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTGGAAGCTGAGGCTCTGGG	0.557																																						uc010ygh.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(721-723)CAG>TAG		zinc finger and SCAN domain containing 5B							168.0	157.0	161.0					19																	56702224		2203	4300	6503	SO:0001587	stop_gained	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56702224G>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.721C>T	19.37:g.56702224G>A	ENSP00000466072:p.Gln241*						p.Q241*	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			3	721	-			241						Nonsense_Mutation	SNP	ENST00000586855.2	37	c.721C>T	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641340	0.67244	.	.	ENSG00000197213	ENST00000358992	.	.	.	1.3	1.3	0.21679	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	6.0462	0.19762	0.0:0.0:1.0:0.0	.	.	.	.	X	241	.	ENSP00000351883:Q241X	Q	-	1	0	ZSCAN5B	61394036	0.000000	0.05858	0.150000	0.22450	0.430000	0.31655	-1.131000	0.03238	1.043000	0.40175	0.306000	0.20318	CAG		PASS	0.557	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		11	275	11	275	---	---	---	---
ZNF583	147949	broad.mit.edu	37	19	56935138	56935138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr19:56935138C>T	ENST00000333201.9	+	5	1321	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Nonsense_Mutation_p.Q371*	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	371					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q371*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AATTGTACATCAGAGAATTCA	0.428																																						uc010ygl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1111-1113)CAG>TAG		zinc finger protein 583							101.0	103.0	102.0					19																	56935138		2203	4300	6503	SO:0001587	stop_gained	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935138C>T	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1111C>T	19.37:g.56935138C>T	ENSP00000388502:p.Gln371*					ZNF583_uc002qnc.2_Nonsense_Mutation_p.Q371*|ZNF583_uc010ygm.1_Nonsense_Mutation_p.Q371*	p.Q371*	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1276	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	371			C2H2-type 6.		O14850|Q2NKK3	Nonsense_Mutation	SNP	ENST00000333201.9	37	c.1111C>T	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	C	36	5.737002	0.96865	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	.	.	.	4.33	3.29	0.37713	.	0.000000	0.42172	D	0.000741	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8323	0.23917	0.0:0.6101:0.292:0.0979	.	.	.	.	X	371	.	.	Q	+	1	0	ZNF583	61626950	0.000000	0.05858	0.999000	0.59377	0.967000	0.64934	-0.097000	0.11042	1.187000	0.43000	0.462000	0.41574	CAG		PASS	0.428	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		9	161	9	161	---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2411116	2411116	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:2411116C>G	ENST00000202625.2	+	11	1764	c.1703C>G	c.(1702-1704)tCt>tGt	p.S568C	TGM6_ENST00000381423.1_Missense_Mutation_p.S568C	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	568					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.S568C(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATTACAATATCTTACTCTAAG	0.468																																						uc002wfy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1702-1704)TCT>TGT		transglutaminase 6	L-Glutamine(DB00130)						92.0	88.0	89.0					20																	2411116		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2411116C>G	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1703C>G	20.37:g.2411116C>G	ENSP00000202625:p.Ser568Cys					TGM6_uc010gal.1_Missense_Mutation_p.S568C	p.S568C	NM_198994	NP_945345	O95932	TGM3L_HUMAN			11	1764	+			568					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1703C>G	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410844	0.62399	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.70045	-0.45;-0.45	5.88	4.93	0.64822	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.768004	0.13161	N	0.409089	T	0.77890	0.4198	M	0.74258	2.255	0.24417	N	0.994633	D;D	0.58620	0.983;0.971	P;P	0.56960	0.73;0.81	T	0.69157	-0.5219	10	0.52906	T	0.07	-1.7534	13.0851	0.59135	0.0:0.8391:0.1609:0.0	.	568;568	O95932-2;O95932	.;TGM3L_HUMAN	C	568	ENSP00000202625:S568C;ENSP00000370831:S568C	ENSP00000202625:S568C	S	+	2	0	TGM6	2359116	0.970000	0.33590	0.941000	0.38009	0.943000	0.58893	4.378000	0.59568	1.475000	0.48197	0.655000	0.94253	TCT		PASS	0.468	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		9	273	9	273	---	---	---	---
BTBD3	22903	broad.mit.edu	37	20	11899807	11899807	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:11899807C>T	ENST00000405977.1	+	3	1025	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000378226.2_Missense_Mutation_p.R134W|BTBD3_ENST00000399006.2_Missense_Mutation_p.R73W|BTBD3_ENST00000254977.3_Missense_Mutation_p.R73W	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	134	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.R134W(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TGGGACTCAACGGTTGCCAGG	0.453																																						uc002wnz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(400-402)CGG>TGG		BTB/POZ domain containing protein 3 isoform a							109.0	98.0	102.0					20																	11899807		2203	4300	6503	SO:0001583	missense	22903							g.chr20:11899807C>T	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.400C>T	20.37:g.11899807C>T	ENSP00000384545:p.Arg134Trp					BTBD3_uc002wny.2_Missense_Mutation_p.R73W|BTBD3_uc002woa.2_Missense_Mutation_p.R73W|BTBD3_uc010zrf.1_Intron|BTBD3_uc010zrg.1_5'Flank|BTBD3_uc010zrh.1_5'Flank	p.R134W	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN			2	759	+			134			BTB.		D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	c.400C>T	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912044	0.33721	.	.	ENSG00000132640	ENST00000254977;ENST00000399006;ENST00000405977;ENST00000422390;ENST00000378226;ENST00000455911;ENST00000430557	T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.93	5.93	0.95920	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.92880	3.355	0.80722	D	1	B	0.28419	0.211	B	0.27608	0.081	T	0.77763	-0.2466	10	0.62326	D	0.03	.	19.3421	0.94347	0.0:1.0:0.0:0.0	.	134	Q9Y2F9	BTBD3_HUMAN	W	73;73;134;73;134;23;23	ENSP00000254977:R73W;ENSP00000381971:R73W;ENSP00000384545:R134W;ENSP00000397809:R73W;ENSP00000367471:R134W;ENSP00000408817:R23W;ENSP00000404582:R23W	ENSP00000254977:R73W	R	+	1	2	BTBD3	11847807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.650000	0.61440	2.826000	0.97356	0.655000	0.94253	CGG		PASS	0.453	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			7	60	7	60	---	---	---	---
CRNKL1	51340	broad.mit.edu	37	20	20033046	20033046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:20033046G>A	ENST00000377340.2	-	2	455	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	CRNKL1_ENST00000377327.4_Nonsense_Mutation_p.Q130*|CRNKL1_ENST00000536226.1_5'UTR|C20orf26_ENST00000245957.5_5'Flank|C20orf26_ENST00000377309.2_5'Flank|C20orf26_ENST00000389656.3_5'Flank|C20orf26_ENST00000377306.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	142					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q142*(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AATCGGCTCTGAGAGCTCACC	0.592																																						uc002wrs.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(424-426)CAG>TAG		crooked neck-like 1 protein							63.0	63.0	63.0					20																	20033046		2203	4300	6503	SO:0001587	stop_gained	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20033046G>A	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.424C>T	20.37:g.20033046G>A	ENSP00000366557:p.Gln142*					C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Nonsense_Mutation_p.Q130*	p.Q142*	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			2	456	-			142					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Nonsense_Mutation	SNP	ENST00000377340.2	37	c.424C>T	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553103	0.65425	.	.	ENSG00000101343	ENST00000377327;ENST00000377340	.	.	.	5.27	-10.5	0.00291	.	7.127290	0.00166	N	0.000002	.	.	.	.	.	.	0.21147	N	0.999778	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	19.3135	5.6681	0.17707	0.1746:0.5116:0.1305:0.1834	.	.	.	.	X	130;142	.	ENSP00000366544:Q130X	Q	-	1	0	CRNKL1	19981046	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.845000	0.04340	-2.243000	0.00707	0.655000	0.94253	CAG		PASS	0.592	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			13	173	13	173	---	---	---	---
XRN2	22803	broad.mit.edu	37	20	21314742	21314742	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:21314742C>T	ENST00000377191.3	+	13	1247	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	XRN2_ENST00000539513.1_Silent_p.V330V|XRN2_ENST00000430571.2_Silent_p.V308V	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	384					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V384V(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTGGTTATGTCAATCTGCAAA	0.313																																						uc002wsf.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1150-1152)GTC>GTT		5'-3' exoribonuclease 2							129.0	130.0	129.0					20																	21314742		2203	4300	6503	SO:0001819	synonymous_variant	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21314742C>T	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1152C>T	20.37:g.21314742C>T						XRN2_uc002wsg.1_Silent_p.V308V|XRN2_uc010zsk.1_Silent_p.V330V	p.V384V	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			13	1247	+			384					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Silent	SNP	ENST00000377191.3	37	c.1152C>T	CCDS13144.1																																																																																				PASS	0.313	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		17	173	17	173	---	---	---	---
NKX2-2	4821	broad.mit.edu	37	20	21492991	21492991	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:21492991C>A	ENST00000377142.4	-	2	748	c.392G>T	c.(391-393)cGg>cTg	p.R131L	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	131					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R131L(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AAGCACTCGCCGCTTTCGCTT	0.687																																						uc002wsi.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(391-393)CGG>CTG		NK2 transcription factor related, locus 2							16.0	19.0	18.0					20																	21492991		2201	4299	6500	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492991C>A	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.392G>T	20.37:g.21492991C>A	ENSP00000366347:p.Arg131Leu						p.R131L	NM_002509	NP_002500	O95096	NKX22_HUMAN			2	749	-			131			Homeobox.			Missense_Mutation	SNP	ENST00000377142.4	37	c.392G>T	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215559	0.95104	.	.	ENSG00000125820	ENST00000377142	D	0.96300	-3.97	4.92	4.92	0.64577	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98304	1.0520	10	0.62326	D	0.03	.	17.7093	0.88317	0.0:1.0:0.0:0.0	.	131	O95096	NKX22_HUMAN	L	131	ENSP00000366347:R131L	ENSP00000366347:R131L	R	-	2	0	NKX2-2	21440991	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.905000	0.63286	2.255000	0.74692	0.462000	0.41574	CGG		PASS	0.687	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			13	24	13	24	---	---	---	---
CDK5RAP1	51654	broad.mit.edu	37	20	31967306	31967306	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:31967306G>T	ENST00000357886.4	-	9	1263	c.1110C>A	c.(1108-1110)atC>atA	p.I370I	CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000473997.1_Silent_p.I266I|CDK5RAP1_ENST00000339269.5_Intron|CDK5RAP1_ENST00000544843.1_Silent_p.I356I|CDK5RAP1_ENST00000346416.2_Silent_p.I356I			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	370					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)	p.I356I(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						AGGTAAAACGGATCCTCATTT	0.468																																						uc010gek.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(1108-1110)ATC>ATA		CDK5 regulatory subunit associated protein 1							80.0	81.0	81.0					20																	31967306		2203	4300	6503	SO:0001819	synonymous_variant	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31967306G>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1110C>A	20.37:g.31967306G>T						CDK5RAP1_uc002wyy.2_Silent_p.I266I|CDK5RAP1_uc002wyz.2_Silent_p.I356I|CDK5RAP1_uc002wza.2_Silent_p.I356I|CDK5RAP1_uc010gel.2_Silent_p.I265I|CDK5RAP1_uc010gem.2_Intron|CDK5RAP1_uc002wzc.1_Silent_p.I356I	p.I370I	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN			9	1234	-			370					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Silent	SNP	ENST00000357886.4	37	c.1110C>A																																																																																					PASS	0.468	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		11	69	11	69	---	---	---	---
NDRG3	57446	broad.mit.edu	37	20	35350132	35350132	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:35350132C>T	ENST00000349004.1	-	2	88	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	NDRG3_ENST00000373773.3_5'UTR|NDRG3_ENST00000540765.1_5'UTR|NDRG3_ENST00000373803.2_Missense_Mutation_p.E3K|NDRG3_ENST00000359675.2_Missense_Mutation_p.E3K	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	3					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E3K(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TCCTGAAGTTCATCCATGAGG	0.363																																						uc002xfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7-9)GAA>AAA		N-myc downstream regulated gene 3 isoform a							89.0	89.0	89.0					20																	35350132		2203	4300	6503	SO:0001583	missense	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35350132C>T	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.7G>A	20.37:g.35350132C>T	ENSP00000345292:p.Glu3Lys					NDRG3_uc002xfx.2_Missense_Mutation_p.E3K|NDRG3_uc010zvq.1_5'UTR|NDRG3_uc010zvr.1_5'UTR	p.E3K	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN			2	89	-		Myeloproliferative disorder(115;0.00878)	3					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	c.7G>A	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877125	0.72180	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675	T;T;T	0.21932	2.06;2.04;1.98	5.21	5.21	0.72293	.	0.052375	0.85682	D	0.000000	T	0.43166	0.1235	M	0.68593	2.085	0.80722	D	1	D;P	0.64830	0.994;0.539	D;B	0.68943	0.961;0.193	T	0.17048	-1.0382	10	0.52906	T	0.07	.	14.1281	0.65235	0.0:1.0:0.0:0.0	.	3;3	Q9UGV2-2;Q9UGV2	.;NDRG3_HUMAN	K	3	ENSP00000345292:E3K;ENSP00000362909:E3K;ENSP00000352703:E3K	ENSP00000345292:E3K	E	-	1	0	NDRG3	34783546	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.894000	0.56250	2.709000	0.92574	0.655000	0.94253	GAA		PASS	0.363	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			8	126	8	126	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37153584	37153584	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:37153584G>C	ENST00000262879.6	+	11	2067	c.1783G>C	c.(1783-1785)Gac>Cac	p.D595H	RALGAPB_ENST00000397040.1_Missense_Mutation_p.D595H|RALGAPB_ENST00000397042.3_Missense_Mutation_p.D595H|RALGAPB_ENST00000397038.1_Missense_Mutation_p.D373H			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	595					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.D595H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATTTTGCCTGACAGGTAAGC	0.423																																						uc002xiw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1783-1785)GAC>CAC		Ral GTPase activating protein, beta subunit							249.0	231.0	237.0					20																	37153584		2202	4300	6502	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37153584G>C	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1783G>C	20.37:g.37153584G>C	ENSP00000262879:p.Asp595His					RALGAPB_uc010zvz.1_3'UTR|RALGAPB_uc002xix.2_Missense_Mutation_p.D595H|RALGAPB_uc002xiy.1_Missense_Mutation_p.D595H|RALGAPB_uc002xiz.2_Missense_Mutation_p.D373H|RALGAPB_uc002xja.1_Missense_Mutation_p.D322H	p.D595H	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			11	2040	+			595					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1783G>C	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048845	0.93740	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.997	T	0.80395	-0.1400	9	0.72032	D	0.01	.	19.4189	0.94712	0.0:0.0:1.0:0.0	.	423;595;595;595	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	H	595;595;595;373;595;423	.	ENSP00000262879:D595H	D	+	1	0	RALGAPB	36586998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.587000	0.87381	0.561000	0.74099	GAC		PASS	0.423	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		33	450	33	450	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37154046	37154046	+	Splice_Site	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:37154046G>A	ENST00000262879.6	+	12	2071		c.e12-1		RALGAPB_ENST00000397040.1_Splice_Site|RALGAPB_ENST00000397042.3_Splice_Site|RALGAPB_ENST00000397038.1_Splice_Site			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)						activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.?(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTTTTGGCAGAGAACTCTCA	0.343																																						uc002xiw.2																			1	Unknown(1)		lung(1)	pancreas(1)|skin(1)	2						c.e12-1		Ral GTPase activating protein, beta subunit							75.0	80.0	78.0					20																	37154046		2203	4300	6503	SO:0001630	splice_region_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37154046G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1788-1G>A	20.37:g.37154046G>A						RALGAPB_uc002xix.2_Splice_Site_p.R596_splice|RALGAPB_uc002xiy.1_Splice_Site_p.R596_splice|RALGAPB_uc002xiz.2_Splice_Site_p.R374_splice|RALGAPB_uc002xja.1_Splice_Site_p.R323_splice	p.R596_splice	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			12	2045	+								A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Splice_Site	SNP	ENST00000262879.6	37	c.1788_splice	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691506	0.88735	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0503	0.97624	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RALGAPB	36587460	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.736000	0.93811	0.591000	0.81541	.		PASS	0.343	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	Intron	13	204	13	204	---	---	---	---
TOP1	7150	broad.mit.edu	37	20	39704838	39704838	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:39704838C>G	ENST00000361337.2	+	4	433	c.183C>G	c.(181-183)caC>caG	p.H61Q		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	61	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)	p.H61Q(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	aaaagaaacacaaagagaagg	0.373			T	NUP98	AML*																																	uc002xjl.2				Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7						c.(181-183)CAC>CAG		DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						110.0	103.0	105.0					20																	39704838		2203	4300	6503	SO:0001583	missense	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39704838C>G		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.183C>G	20.37:g.39704838C>G	ENSP00000354522:p.His61Gln					TOP1_uc010gge.1_RNA	p.H61Q	NM_003286	NP_003277	P11387	TOP1_HUMAN			4	429	+		Myeloproliferative disorder(115;0.00878)	61			Lys-rich.		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	c.183C>G	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492179	0.26774	.	.	ENSG00000198900	ENST00000361337	T	0.21191	2.02	5.11	4.16	0.48862	.	0.365080	0.34700	N	0.003747	T	0.22126	0.0533	L	0.29908	0.895	0.40844	D	0.983699	P	0.40431	0.717	P	0.49047	0.599	T	0.03433	-1.1037	10	0.36615	T	0.2	-8.8896	9.5865	0.39519	0.0:0.9054:0.0:0.0946	.	61	P11387	TOP1_HUMAN	Q	61	ENSP00000354522:H61Q	ENSP00000354522:H61Q	H	+	3	2	TOP1	39138252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.165000	0.31822	1.522000	0.49001	0.655000	0.94253	CAC		PASS	0.373	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			17	155	17	155	---	---	---	---
HNF4A	3172	broad.mit.edu	37	20	43057096	43057096	+	Missense_Mutation	SNP	G	G	A	rs550287415		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:43057096G>A	ENST00000316099.4	+	9	1340	c.1251G>A	c.(1249-1251)atG>atA	p.M417I	HNF4A_ENST00000415691.2_Splice_Site_p.M417I|HNF4A_ENST00000316673.4_Missense_Mutation_p.M395I|HNF4A_ENST00000457232.1_Splice_Site_p.M395I	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	417					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.M395I(1)|p.M417I(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACGGACAGATGTGTGAGTGGC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20507	0.0		0.0	False		,,,				2504	0.0				Colon(79;2 1269 8820 14841 52347)	uc002xma.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|skin(1)	3						c.(1249-1251)ATG>ATA		hepatocyte nuclear factor 4 alpha isoform b							82.0	57.0	66.0					20																	43057096		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43057096G>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1251G>A	20.37:g.43057096G>A	ENSP00000312987:p.Met417Ile					HNF4A_uc002xlu.2_Missense_Mutation_p.M395I|HNF4A_uc002xlv.2_Missense_Mutation_p.M395I|HNF4A_uc002xlz.2_Missense_Mutation_p.M417I|HNF4A_uc010ggq.2_Missense_Mutation_p.M410I	p.M417I	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		9	1340	+		Myeloproliferative disorder(115;0.0122)	417					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.1251G>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.904346	0.33628	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000338692;ENST00000415691	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.93	5.93	0.95920	.	0.236579	0.48286	D	0.000191	T	0.54287	0.1849	N	0.11427	0.14	0.30536	N	0.766907	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.001;0.001;0.002	T	0.39078	-0.9631	10	0.14656	T	0.56	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	410;417;417;395;395	Q5QPB7;P41235;F1D8S2;F1D8T0;P41235-6	.;HNF4A_HUMAN;.;.;.	I	395;395;417;447;417	ENSP00000315180:M395I;ENSP00000396216:M395I;ENSP00000312987:M417I;ENSP00000412111:M417I	ENSP00000312987:M417I	M	+	3	0	HNF4A	42490510	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.825000	0.62708	2.814000	0.96858	0.563000	0.77884	ATG		PASS	0.572	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			10	73	10	73	---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46266425	46266425	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:46266425C>T	ENST00000371998.3	+	13	2601	c.2410C>T	c.(2410-2412)Ctt>Ttt	p.L804F	NCOA3_ENST00000372004.3_Missense_Mutation_p.L804F|NCOA3_ENST00000341724.6_Missense_Mutation_p.L814F|NCOA3_ENST00000371997.3_Missense_Mutation_p.L814F			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	804					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.L804F(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGATGCTATTCTTGGTGATCT	0.358																																						uc002xtk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(2410-2412)CTT>TTT		nuclear receptor coactivator 3 isoform a							193.0	189.0	191.0					20																	46266425		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46266425C>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2410C>T	20.37:g.46266425C>T	ENSP00000361066:p.Leu804Phe					NCOA3_uc010ght.1_Missense_Mutation_p.L814F|NCOA3_uc002xtl.2_Missense_Mutation_p.L804F|NCOA3_uc002xtm.2_Missense_Mutation_p.L804F|NCOA3_uc002xtn.2_Missense_Mutation_p.L804F|NCOA3_uc010zyc.1_Missense_Mutation_p.L599F	p.L804F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			13	2615	+			804					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.2410C>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746360	0.69418	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.07444	3.19;3.65;3.64;3.47	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000008	T	0.30603	0.0770	M	0.84326	2.69	0.43195	D	0.99503	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.978;1.0;0.999	D;D;D;P;D;D	0.91635	0.993;0.999;0.997;0.566;0.997;0.979	T	0.02081	-1.1217	10	0.87932	D	0	-18.9297	12.2676	0.54686	0.0:0.8774:0.0:0.1226	.	804;814;808;804;804;804	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	F	804;814;804;804;814	ENSP00000342123:L814F;ENSP00000361073:L804F;ENSP00000361066:L804F;ENSP00000361065:L814F	ENSP00000345671:L804F	L	+	1	0	NCOA3	45699832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.068000	0.50018	2.622000	0.88805	0.655000	0.94253	CTT		PASS	0.358	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		12	322	12	322	---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47874027	47874027	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:47874027A>C	ENST00000396105.1	-	8	2837	c.2591T>G	c.(2590-2592)cTt>cGt	p.L864R	ZNFX1_ENST00000371752.1_Missense_Mutation_p.L864R|ZNFX1_ENST00000371754.4_Missense_Mutation_p.L864R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	864			L -> V (in dbSNP:rs2664578).				metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L864R(2)|p.L668R(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CATGGCCAGAAGCATTTTAGC	0.557																																						uc002xui.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(2590-2592)CTT>CGT		zinc finger, NFX1-type containing 1							163.0	148.0	153.0					20																	47874027		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47874027A>C	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2591T>G	20.37:g.47874027A>C	ENSP00000379412:p.Leu864Arg						p.L864R	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		8	2838	-			864					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.2591T>G	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.095708	0.76870	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.86865	-1.95;-2.18;-2.18;-1.0;-1.69	5.87	5.87	0.94306	.	0.122142	0.56097	D	0.000031	D	0.91583	0.7341	M	0.61703	1.905	0.52099	D	0.999949	D	0.65815	0.995	D	0.68621	0.959	D	0.90230	0.4278	10	0.31617	T	0.26	-14.476	15.094	0.72220	1.0:0.0:0.0:0.0	.	864	Q9P2E3	ZNFX1_HUMAN	R	864;864;864;864;864;668	ENSP00000360819:L864R;ENSP00000360817:L864R;ENSP00000379412:L864R;ENSP00000360809:L864R;ENSP00000413800:L668R	ENSP00000360809:L864R	L	-	2	0	ZNFX1	47307434	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	8.386000	0.90166	2.248000	0.74166	0.533000	0.62120	CTT		PASS	0.557	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		31	139	31	139	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55026901	55026901	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:55026901G>A	ENST00000360314.3	+	6	894	c.669G>A	c.(667-669)gtG>gtA	p.V223V	CASS4_ENST00000371336.3_Silent_p.V223V|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	223					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.V223V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGATATCAGTGACTACCTTAA	0.493																																						uc002xxp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(667-669)GTG>GTA		HEF-like protein isoform a							63.0	59.0	60.0					20																	55026901		2203	4300	6503	SO:0001819	synonymous_variant	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55026901G>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.669G>A	20.37:g.55026901G>A						CASS4_uc002xxq.3_Silent_p.V223V|CASS4_uc002xxr.2_Silent_p.V223V|CASS4_uc010zze.1_Silent_p.V169V|CASS4_uc010gio.2_Intron	p.V223V	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	894	+			223					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	ENST00000360314.3	37	c.669G>A	CCDS33492.1																																																																																				PASS	0.493	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		25	113	25	113	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512009	61512009	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:61512009G>A	ENST00000266070.4	-	16	5624	c.5299C>T	c.(5299-5301)Cac>Tac	p.H1767Y	DIDO1_ENST00000395343.1_Missense_Mutation_p.H1767Y	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1767	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H1767Y(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTGGGGCCGTGAAGCCCTGAC	0.642																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(5299-5301)CAC>TAC		death inducer-obliterator 1 isoform c							51.0	59.0	56.0					20																	61512009		2203	4297	6500	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512009G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5299C>T	20.37:g.61512009G>A	ENSP00000266070:p.His1767Tyr					DIDO1_uc002yds.1_Missense_Mutation_p.H1767Y	p.H1767Y	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	5563	-	Breast(26;5.68e-08)		1767			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5299C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.740767	0.49045	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09723	2.95;2.95	5.17	4.22	0.49857	.	0.000000	0.44483	D	0.000443	T	0.15825	0.0381	M	0.63428	1.95	0.80722	D	1	D	0.55385	0.971	P	0.47299	0.543	T	0.01059	-1.1465	10	0.66056	D	0.02	-7.4973	8.7446	0.34578	0.0762:0.0:0.7747:0.1491	.	1767	Q9BTC0	DIDO1_HUMAN	Y	1767	ENSP00000266070:H1767Y;ENSP00000378752:H1767Y	ENSP00000266070:H1767Y	H	-	1	0	DIDO1	60982454	1.000000	0.71417	0.171000	0.22900	0.856000	0.48823	3.411000	0.52672	1.162000	0.42619	0.555000	0.69702	CAC		PASS	0.642	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		17	290	17	290	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512017	61512017	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:61512017G>T	ENST00000266070.4	-	16	5616	c.5291C>A	c.(5290-5292)tCa>tAa	p.S1764*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.S1764*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1764	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S1764*(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGAAGCCCTGACATCCCCAA	0.652																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(3)	6						c.(5290-5292)TCA>TAA		death inducer-obliterator 1 isoform c							50.0	59.0	56.0					20																	61512017		2202	4294	6496	SO:0001587	stop_gained	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512017G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5291C>A	20.37:g.61512017G>T	ENSP00000266070:p.Ser1764*					DIDO1_uc002yds.1_Nonsense_Mutation_p.S1764*	p.S1764*	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	5555	-	Breast(26;5.68e-08)		1764			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	ENST00000266070.4	37	c.5291C>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	46	12.220484	0.99647	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	.	.	.	5.17	3.23	0.37069	.	0.462333	0.16128	N	0.228321	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-1.2677	9.4479	0.38708	0.2279:0.0:0.7721:0.0	.	.	.	.	X	1764	.	ENSP00000266070:S1764X	S	-	2	0	DIDO1	60982462	0.031000	0.19500	0.003000	0.11579	0.712000	0.41017	1.483000	0.35497	0.566000	0.29273	0.555000	0.69702	TCA		PASS	0.652	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		18	277	18	277	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512069	61512069	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:61512069G>C	ENST00000266070.4	-	16	5564	c.5239C>G	c.(5239-5241)Cag>Gag	p.Q1747E	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1747E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1747	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q1747E(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AACGGGGGCTGAGAGCCCCCC	0.682																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			2	Substitution - Missense(2)		lung(1)|breast(1)	ovary(3)|skin(3)	6						c.(5239-5241)CAG>GAG		death inducer-obliterator 1 isoform c							41.0	52.0	48.0					20																	61512069		2203	4295	6498	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512069G>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5239C>G	20.37:g.61512069G>C	ENSP00000266070:p.Gln1747Glu					DIDO1_uc002yds.1_Missense_Mutation_p.Q1747E	p.Q1747E	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	5503	-	Breast(26;5.68e-08)		1747			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5239C>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271313	0.40194	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08634	3.07;3.07	5.08	5.08	0.68730	.	0.497395	0.14587	U	0.310510	T	0.05731	0.0150	L	0.27053	0.805	0.80722	D	1	B	0.25105	0.118	B	0.21360	0.034	T	0.07673	-1.0760	10	0.02654	T	1	-1.1419	11.8993	0.52673	0.0803:0.0:0.9197:0.0	.	1747	Q9BTC0	DIDO1_HUMAN	E	1747	ENSP00000266070:Q1747E;ENSP00000378752:Q1747E	ENSP00000266070:Q1747E	Q	-	1	0	DIDO1	60982514	0.985000	0.35326	0.023000	0.16930	0.136000	0.21042	5.666000	0.68059	2.335000	0.79485	0.484000	0.47621	CAG		PASS	0.682	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		13	282	13	282	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512895	61512896	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:61512895_61512896GG>AA	ENST00000266070.4	-	16	4737_4738	c.4412_4413CC>TT	c.(4411-4413)tCC>tTT	p.S1471F	DIDO1_ENST00000395343.1_Missense_Mutation_p.S1471F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1471					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S1471F(2)|p.S1471S(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTCCACCAGGGAGGGCGTCGC	0.589																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|skin(3)	6						c.(4411-4413)TCC>TCT|c.(4411-4413)TCC>TTC		death inducer-obliterator 1 isoform c																																				SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512895G>A|g.chr20:61512896G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4412_4413delinsAA	20.37:g.61512895_61512896delinsAA	ENSP00000266070:p.Ser1471Phe					DIDO1_uc002yds.1_Silent_p.S1471S|DIDO1_uc002yds.1_Missense_Mutation_p.S1471F	p.S1471S|p.S1471F	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4677|4676	-	Breast(26;5.68e-08)		1471					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent|Missense_Mutation	SNP	ENST00000266070.4	37	c.4413C>T|c.4412C>T	CCDS33506.1																																																																																				PASS	0.589	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		16	323|318	16	318	---	---	---	---
ABHD16B	140701	broad.mit.edu	37	20	62493290	62493290	+	Missense_Mutation	SNP	C	C	A	rs199604302		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr20:62493290C>A	ENST00000369916.3	+	1	725	c.397C>A	c.(397-399)Cgc>Agc	p.R133S	C20ORF135_ENST00000601296.1_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	133							hydrolase activity (GO:0016787)	p.R133S(2)		endometrium(2)|kidney(1)|lung(3)	6						GGGCCAAGAGCGCCTCGTGGA	0.711																																						uc002ygx.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)		0						c.(397-399)CGC>AGC		hypothetical protein LOC140701							8.0	11.0	10.0					20																	62493290		2085	4115	6200	SO:0001583	missense	140701						hydrolase activity	g.chr20:62493290C>A		CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"""Abhydrolase domain containing"""	16128	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 135"""	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.397C>A	20.37:g.62493290C>A	ENSP00000358932:p.Arg133Ser						p.R133S	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN			1	725	+	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)		133						Missense_Mutation	SNP	ENST00000369916.3	37	c.397C>A	CCDS13539.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077356	0.55753	.	.	ENSG00000183260	ENST00000369916	T	0.46063	0.88	4.72	4.72	0.59763	.	0.229126	0.35349	U	0.003262	T	0.51822	0.1697	M	0.66939	2.045	0.40369	D	0.979324	P	0.49253	0.921	P	0.49752	0.621	T	0.58233	-0.7672	10	0.52906	T	0.07	0.78	15.167	0.72837	0.0:1.0:0.0:0.0	.	133	Q9H3Z7	ABHGB_HUMAN	S	133	ENSP00000358932:R133S	ENSP00000358932:R133S	R	+	1	0	ABHD16B	61963734	0.999000	0.42202	1.000000	0.80357	0.908000	0.53690	2.238000	0.43070	2.167000	0.68274	0.591000	0.81541	CGC		PASS	0.711	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080254.1			8	35	8	35	---	---	---	---
NRIP1	8204	broad.mit.edu	37	21	16338048	16338048	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr21:16338048C>T	ENST00000400202.1	-	3	3178	c.2466G>A	c.(2464-2466)ttG>ttA	p.L822L	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Silent_p.L822L|NRIP1_ENST00000400199.1_Silent_p.L822L			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	822	Interaction with ZNF366.|Repression domain 3.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L822L(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTTGTCTTAGCAATCGACTTA	0.423																																						uc002yjx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2464-2466)TTG>TTA		nuclear receptor interacting protein 1							68.0	73.0	71.0					21																	16338048		2200	4299	6499	SO:0001819	synonymous_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338048C>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2466G>A	21.37:g.16338048C>T							p.L822L	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	3064	-			822			Repression domain 3.|LXXLL motif 8.		Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.2466G>A	CCDS13568.1																																																																																				PASS	0.423	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		57	125	57	125	---	---	---	---
KRTAP13-2	337959	broad.mit.edu	37	21	31744142	31744142	+	Silent	SNP	C	C	A	rs145274953		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr21:31744142C>A	ENST00000399889.2	-	1	415	c.390G>T	c.(388-390)ctG>ctT	p.L130L		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	130						intermediate filament (GO:0005882)		p.L130L(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TTCCATAACCCAGGGATCTGA	0.582																																						uc002ynz.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(388-390)CTG>CTT		keratin associated protein 13-2		C		1,4405	2.1+/-5.4	0,1,2202	67.0	64.0	65.0		390	0.3	0.0	21	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous	KRTAP13-2	NM_181621.3		0,1,6502	AA,AC,CC		0.0,0.0227,0.0077		130/176	31744142	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	337959					intermediate filament		g.chr21:31744142C>A	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.390G>T	21.37:g.31744142C>A							p.L130L	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			1	416	-			130						Silent	SNP	ENST00000399889.2	37	c.390G>T	CCDS13589.1																																																																																				PASS	0.582	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			19	80	19	80	---	---	---	---
SLC37A1	54020	broad.mit.edu	37	21	43983979	43983979	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr21:43983979G>T	ENST00000352133.2	+	13	2109	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V	AP001625.6_ENST00000442605.1_RNA|SLC37A1_ENST00000398341.3_Missense_Mutation_p.G376V			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	376					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)	p.G376V(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GACGTGGGCGGAATCTTTGGT	0.488																																						uc002zbi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1126-1128)GGA>GTA		solute carrier family 37 member 1							116.0	98.0	104.0					21																	43983979		2203	4300	6503	SO:0001583	missense	54020				carbohydrate transport|transmembrane transport	integral to membrane		g.chr21:43983979G>T	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.1127G>T	21.37:g.43983979G>T	ENSP00000344648:p.Gly376Val					SLC37A1_uc002zbj.2_Missense_Mutation_p.G376V	p.G376V	NM_018964	NP_061837	P57057	GLPT_HUMAN			14	1539	+			376			Helical; (Potential).		D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	37	c.1127G>T	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362933	0.82353	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.61040	0.14;0.14	5.09	5.09	0.68999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81133	0.4759	M	0.91300	3.195	0.80722	D	1	D	0.56287	0.975	D	0.69824	0.966	D	0.85783	0.1362	10	0.87932	D	0	-9.4461	17.2668	0.87089	0.0:0.0:1.0:0.0	.	376	P57057	GLPT_HUMAN	V	376	ENSP00000381383:G376V;ENSP00000344648:G376V	ENSP00000344648:G376V	G	+	2	0	SLC37A1	42857048	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	8.627000	0.90974	2.371000	0.80710	0.462000	0.41574	GGA		PASS	0.488	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			26	117	26	117	---	---	---	---
WDR4	10785	broad.mit.edu	37	21	44293671	44293671	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr21:44293671G>C	ENST00000398208.2	-	3	345	c.286C>G	c.(286-288)Ctg>Gtg	p.L96V	WDR4_ENST00000330317.2_Missense_Mutation_p.L96V|WDR4_ENST00000492742.1_Intron	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4									p.L96V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CTGACACTCAGACATTGCCAT	0.448																																						uc002zci.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(286-288)CTG>GTG		WD repeat domain 4 protein							263.0	231.0	242.0					21																	44293671		2203	4300	6503	SO:0001583	missense	10785				tRNA modification	cytoplasm|nucleoplasm	protein binding	g.chr21:44293671G>C	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.286C>G	21.37:g.44293671G>C	ENSP00000381266:p.Leu96Val					WDR4_uc002zck.1_Missense_Mutation_p.L96V|WDR4_uc002zcl.1_Intron|WDR4_uc010gpg.1_Missense_Mutation_p.L96V|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_Intron	p.L96V	NM_033661	NP_387510	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	3	359	-			96			WD 1.			Missense_Mutation	SNP	ENST00000398208.2	37	c.286C>G	CCDS13691.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543223	0.45280	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.29655	1.56;1.56	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.194414	0.36374	N	0.002623	T	0.31231	0.0790	M	0.68728	2.09	0.38329	D	0.943734	P;P	0.51537	0.946;0.584	B;B	0.39503	0.301;0.177	T	0.32375	-0.9909	10	0.25106	T	0.35	-19.3493	15.2705	0.73696	0.0:0.0:1.0:0.0	.	96;96	P57081-2;P57081	.;WDR4_HUMAN	V	96	ENSP00000328671:L96V;ENSP00000381266:L96V	ENSP00000328671:L96V	L	-	1	2	WDR4	43166740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.934000	0.40163	2.405000	0.81733	0.655000	0.94253	CTG		PASS	0.448	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			84	622	84	622	---	---	---	---
ITGB2	3689	broad.mit.edu	37	21	46321448	46321448	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr21:46321448C>G	ENST00000397850.2	-	7	1152	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	ITGB2_ENST00000397854.3_Missense_Mutation_p.E177Q|ITGB2_ENST00000355153.4_Missense_Mutation_p.E234Q|ITGB2_ENST00000302347.5_Missense_Mutation_p.E234Q|ITGB2_ENST00000397857.1_Missense_Mutation_p.E234Q|ITGB2_ENST00000397852.1_Missense_Mutation_p.E234Q			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	234	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.E234Q(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGCCCACCCTCGGGTGCATCC	0.647																																						uc002zgd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(3)|breast(2)	9						c.(700-702)GAG>CAG		integrin, beta 2 precursor	Simvastatin(DB00641)						91.0	86.0	87.0					21																	46321448		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46321448C>G	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.700G>C	21.37:g.46321448C>G	ENSP00000380948:p.Glu234Gln					ITGB2_uc002zge.2_Missense_Mutation_p.E234Q|ITGB2_uc002zgf.3_Missense_Mutation_p.E234Q|ITGB2_uc011afl.1_Missense_Mutation_p.E156Q|ITGB2_uc010gpw.2_Missense_Mutation_p.E177Q|ITGB2_uc002zgg.2_Missense_Mutation_p.E234Q	p.E234Q	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	5	744	-			234			Extracellular (Potential).|VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.700G>C	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219477	0.58560	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216	D;D;D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8	4.2	3.31	0.37934	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.	.	.	.	D	0.97901	0.9310	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97734	1.0204	9	0.87932	D	0	.	9.7421	0.40424	0.0:0.8968:0.0:0.1032	.	177;234	A8MYE6;P05107	.;ITB2_HUMAN	Q	234;234;177;234;234;234;177;225	ENSP00000380950:E234Q;ENSP00000380955:E234Q;ENSP00000380952:E177Q;ENSP00000347279:E234Q;ENSP00000380948:E234Q;ENSP00000303242:E234Q;ENSP00000317697:E225Q	ENSP00000303242:E234Q	E	-	1	0	ITGB2	45145876	1.000000	0.71417	0.986000	0.45419	0.212000	0.24457	7.209000	0.77916	0.980000	0.38523	0.555000	0.69702	GAG		PASS	0.647	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		10	110	10	110	---	---	---	---
CDC45	8318	broad.mit.edu	37	22	19483524	19483524	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:19483524A>G	ENST00000407835.1	+	8	819	c.563A>G	c.(562-564)tAc>tGc	p.Y188C	CDC45_ENST00000404724.3_Missense_Mutation_p.Y142C|CDC45_ENST00000263201.1_Missense_Mutation_p.Y188C|CDC45_ENST00000437685.2_Missense_Mutation_p.Y220C			O75419	CDC45_HUMAN	cell division cycle 45	188					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Y188C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CTCTTTGACTACGAGCAGTAT	0.398																																						uc002zpr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(562-564)TAC>TGC		CDC45-like							211.0	205.0	207.0					22																	19483524		2203	4300	6503	SO:0001583	missense	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19483524A>G	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.563A>G	22.37:g.19483524A>G	ENSP00000385240:p.Tyr188Cys					CDC45_uc011agz.1_Missense_Mutation_p.Y183C|CDC45_uc011aha.1_Missense_Mutation_p.Y220C|CDC45_uc002zps.2_Missense_Mutation_p.Y188C|CDC45_uc002zpt.2_Missense_Mutation_p.Y142C	p.Y188C	NM_003504	NP_003495	O75419	CDC45_HUMAN			7	639	+			188					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	ENST00000407835.1	37	c.563A>G	CCDS13762.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.569671	0.86439	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.87498	0.2431	10	0.87932	D	0	-24.6675	15.4419	0.75190	1.0:0.0:0.0:0.0	.	220;183;142;220;188	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	C	188;220;188;142	ENSP00000385240:Y188C;ENSP00000405726:Y220C;ENSP00000263201:Y188C;ENSP00000384978:Y142C	ENSP00000263201:Y188C	Y	+	2	0	CDC45	17863524	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	8.181000	0.89696	2.302000	0.77476	0.533000	0.62120	TAC		PASS	0.398	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		107	362	107	362	---	---	---	---
CCDC116	164592	broad.mit.edu	37	22	21990876	21990876	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:21990876C>T	ENST00000292779.3	+	5	1520	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	453								p.F453F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					AGTACGAGTTCGAAAAGGACC	0.562																																						uc002zve.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1357-1359)TTC>TTT		coiled-coil domain containing 116							90.0	72.0	78.0					22																	21990876		2203	4300	6503	SO:0001819	synonymous_variant	164592							g.chr22:21990876C>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1359C>T	22.37:g.21990876C>T							p.F453F	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN			5	1452	+	Colorectal(54;0.105)		453					Q8N9Y9	Silent	SNP	ENST00000292779.3	37	c.1359C>T	CCDS13791.1																																																																																				PASS	0.562	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		28	226	28	226	---	---	---	---
CABIN1	23523	broad.mit.edu	37	22	24483605	24483605	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:24483605C>G	ENST00000398319.2	+	23	3849	c.3464C>G	c.(3463-3465)tCa>tGa	p.S1155*	CABIN1_ENST00000263119.5_Nonsense_Mutation_p.S1155*|CABIN1_ENST00000405822.2_Nonsense_Mutation_p.S1105*	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1155					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.S1155*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCTTGCACTCATTCGCCTCA	0.587																																						uc002zzi.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(3463-3465)TCA>TGA		calcineurin binding protein 1							125.0	110.0	115.0					22																	24483605		2203	4300	6503	SO:0001587	stop_gained	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24483605C>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3464C>G	22.37:g.24483605C>G	ENSP00000381364:p.Ser1155*					CABIN1_uc002zzj.1_Nonsense_Mutation_p.S1105*|CABIN1_uc002zzl.1_Nonsense_Mutation_p.S1155*	p.S1155*	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			23	3591	+			1155					G5E9F3|Q6PHY0|Q9Y460	Nonsense_Mutation	SNP	ENST00000398319.2	37	c.3464C>G	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	47	13.183321	0.99725	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	.	.	.	5.1	5.1	0.69264	.	0.231981	0.37261	N	0.002173	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9574	0.89073	0.0:1.0:0.0:0.0	.	.	.	.	X	1155;1105;1155	.	ENSP00000263119:S1155X	S	+	2	0	CABIN1	22813605	1.000000	0.71417	0.948000	0.38648	0.913000	0.54294	7.691000	0.84191	2.568000	0.86640	0.650000	0.86243	TCA		PASS	0.587	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		46	277	46	277	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26219576	26219576	+	Nonsense_Mutation	SNP	C	C	T	rs267606197		TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:26219576C>T	ENST00000407587.2	+	13	2795	c.2626C>T	c.(2626-2628)Cga>Tga	p.R876*	MYO18B_ENST00000536101.1_Nonsense_Mutation_p.R876*|MYO18B_ENST00000335473.7_Nonsense_Mutation_p.R876*			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	876	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R876*(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCACCACCTTCGACAGATCAT	0.572																																						uc003abz.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(2626-2628)CGA>TGA		myosin XVIIIB							185.0	183.0	183.0					22																	26219576		2096	4216	6312	SO:0001587	stop_gained	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26219576C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2626C>T	22.37:g.26219576C>T	ENSP00000386096:p.Arg876*					MYO18B_uc003aca.1_Nonsense_Mutation_p.R757*|MYO18B_uc010guy.1_Nonsense_Mutation_p.R757*|MYO18B_uc010guz.1_Nonsense_Mutation_p.R757*|MYO18B_uc011aka.1_Nonsense_Mutation_p.R30*|MYO18B_uc011akb.1_Nonsense_Mutation_p.R389*	p.R876*	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			13	2876	+			876			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Nonsense_Mutation	SNP	ENST00000407587.2	37	c.2626C>T		.	.	.	.	.	.	.	.	.	.	C	42	9.533219	0.99198	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	.	.	.	4.73	4.73	0.59995	.	0.495543	0.19275	N	0.118304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8379	0.46698	0.2954:0.7046:0.0:0.0	.	.	.	.	X	876	.	ENSP00000334563:R876X	R	+	1	2	MYO18B	24549576	0.798000	0.28890	0.998000	0.56505	0.570000	0.35934	1.793000	0.38764	2.327000	0.79052	0.448000	0.29417	CGA		PASS	0.572	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		24	694	24	694	---	---	---	---
NIPSNAP1	8508	broad.mit.edu	37	22	29957616	29957616	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:29957616C>A	ENST00000216121.7	-	6	712	c.458G>T	c.(457-459)aGg>aTg	p.R153M		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	153					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.R153M(1)|p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GCTCCGCTCCCTTCGGAACTC	0.567																																						uc003afx.3																			2	Substitution - Missense(1)|Unknown(1)	p.?(1)	lung(2)	skin(1)	1						c.(457-459)AGG>ATG		nipsnap homolog 1							103.0	95.0	98.0					22																	29957616		2203	4300	6503	SO:0001583	missense	8508							g.chr22:29957616C>A	AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"""4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"""	603249	"""NIPSNAP, C. elegans, homolog 1"""			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.458G>T	22.37:g.29957616C>A	ENSP00000216121:p.Arg153Met					NIPSNAP1_uc011akp.1_Missense_Mutation_p.R133M	p.R153M	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN			6	531	-			153					B2RAY3|O43800	Missense_Mutation	SNP	ENST00000216121.7	37	c.458G>T	CCDS13860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.23|17.23	3.337386|3.337386	0.60963|0.60963	.|.	.|.	ENSG00000184117|ENSG00000184117	ENST00000415100|ENST00000216121;ENST00000437094	.|T;T	.|0.70986	.|0.89;-0.53	4.83|4.83	3.8|3.8	0.43715|0.43715	.|Dimeric alpha-beta barrel (1);	.|0.136669	.|0.64402	.|D	.|0.000003	T|T	0.59155|0.59155	0.2173|0.2173	N|N	0.24115|0.24115	0.695|0.695	0.25181|0.25181	N|N	0.990209|0.990209	.|B;P	.|0.39311	.|0.356;0.667	.|B;B	.|0.42087	.|0.264;0.375	T|T	0.56007|0.56007	-0.8050|-0.8050	5|10	.|0.87932	.|D	.|0	-13.5122|-13.5122	10.0195|10.0195	0.42035|0.42035	0.0:0.0816:0.0:0.9184|0.0:0.0816:0.0:0.9184	.|.	.|133;153	.|B4DQI7;Q9BPW8	.|.;NIPS1_HUMAN	N|M	169|153;18	.|ENSP00000216121:R153M;ENSP00000403448:R18M	.|ENSP00000216121:R153M	K|R	-|-	3|2	2|0	NIPSNAP1|NIPSNAP1	28287616|28287616	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.996000|1.996000	0.40776|0.40776	0.995000|0.995000	0.38917|0.38917	-0.379000|-0.379000	0.06801|0.06801	AAG|AGG		PASS	0.567	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1			107	245	107	245	---	---	---	---
MTFP1	51537	broad.mit.edu	37	22	30823381	30823381	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:30823381C>A	ENST00000266263.5	+	3	769	c.419C>A	c.(418-420)cCc>cAc	p.P140H	MTFP1_ENST00000355143.4_Intron|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.P312H|MTFP1_ENST00000407550.3_Missense_Mutation_p.P117H	NM_016498.4	NP_057582.2	Q9UDX5	MTFP1_HUMAN	mitochondrial fission process 1	140					apoptotic process (GO:0006915)|mitochondrial fission (GO:0000266)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.P140H(1)		endometrium(1)|large_intestine(1)|lung(2)	4						ATTATCCACCCCATTGACAGG	0.577																																						uc003ahw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)CCC>CAC		mitochondrial protein 18 kDa isoform a							103.0	82.0	89.0					22																	30823381		2203	4300	6503	SO:0001583	missense	51537				apoptosis|carbon utilization	integral to membrane|mitochondrial inner membrane	carbonate dehydratase activity|zinc ion binding	g.chr22:30823381C>A	AF151076	CCDS33634.1, CCDS33635.1	22q	2010-09-02			ENSG00000242114	ENSG00000242114			26945	protein-coding gene	gene with protein product		610235				15155745, 15985469	Standard	NM_016498		Approved	MTP18, HSPC242		Q9UDX5	OTTHUMG00000151057	ENST00000266263.5:c.419C>A	22.37:g.30823381C>A	ENSP00000266263:p.Pro140His					SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Missense_Mutation_p.P302H|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Intron	p.P140H	NM_016498	NP_057582	Q9UDX5	MTFP1_HUMAN			3	567	+			140			Helical; (Potential).		A6NFQ5|Q9H3K1|Q9P0N6	Missense_Mutation	SNP	ENST00000266263.5	37	c.419C>A	CCDS33635.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788252	0.90367	.	.	ENSG00000249590;ENSG00000242114;ENSG00000242114	ENST00000439838;ENST00000266263;ENST00000407550	T	0.72615	-0.67	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.86343	0.5910	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87923	0.2705	10	0.56958	D	0.05	-7.6279	18.115	0.89552	0.0:1.0:0.0:0.0	.	140	Q9UDX5	MTFP1_HUMAN	H	312;140;117	ENSP00000415178:P312H	ENSP00000266263:P140H	P	+	2	0	MTFP1;RP4-539M6.19	29153381	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.503000	0.81632	2.615000	0.88500	0.655000	0.94253	CCC		PASS	0.577	MTFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321126.3	NM_016498		143	369	143	369	---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31302239	31302239	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:31302239G>A	ENST00000332585.6	+	14	2768	c.2664G>A	c.(2662-2664)ctG>ctA	p.L888L	OSBP2_ENST00000403222.3_Silent_p.L722L|OSBP2_ENST00000401475.1_Silent_p.L521L|OSBP2_ENST00000535268.1_Silent_p.L432L|OSBP2_ENST00000382310.3_3'UTR|OSBP2_ENST00000446658.2_Silent_p.L887L|OSBP2_ENST00000407373.1_Silent_p.L715L|OSBP2_ENST00000437268.2_Silent_p.L631L	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	888					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)	p.L888L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGGATCCGCTGACCGGGGAGA	0.622																																						uc003aiy.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(2662-2664)CTG>CTA		oxysterol binding protein 2 isoform a							71.0	91.0	84.0					22																	31302239		2147	4249	6396	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31302239G>A		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.2664G>A	22.37:g.31302239G>A						OSBP2_uc011ala.1_Silent_p.L722L|OSBP2_uc010gwc.1_Silent_p.L715L|OSBP2_uc011alb.1_3'UTR|OSBP2_uc003aiz.1_Silent_p.L887L|OSBP2_uc003aja.1_Silent_p.L521L|OSBP2_uc011alc.1_Silent_p.L631L|OSBP2_uc003ajb.2_Silent_p.L433L|OSBP2_uc011ald.1_Silent_p.L432L|OSBP2_uc010gwd.1_3'UTR	p.L888L	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			14	2768	+			888					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.2664G>A	CCDS43002.1																																																																																				PASS	0.622	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		26	229	26	229	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32218747	32218747	+	Missense_Mutation	SNP	C	C	T	rs199783404	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:32218747C>T	ENST00000382112.3	+	23	2145	c.2075C>T	c.(2074-2076)tCt>tTt	p.S692F	DEPDC5_ENST00000266091.3_Missense_Mutation_p.S692F|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S692F|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S692F|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S692F|DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000400246.1_Missense_Mutation_p.S692F	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	692					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.S692F(1)|p.S692Y(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAGGAGCTTTCTGTCGGCCTG	0.527													C|||	16	0.00319489	0.0113	0.0014	5008	,	,		20045	0.0		0.0	False		,,,				2504	0.0					uc003als.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(2074-2076)TCT>TTT		DEP domain containing 5 isoform 1							79.0	77.0	77.0					22																	32218747		1972	4162	6134	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32218747C>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2075C>T	22.37:g.32218747C>T	ENSP00000371546:p.Ser692Phe					DEPDC5_uc011als.1_Intron|DEPDC5_uc011alu.1_Missense_Mutation_p.S692F|DEPDC5_uc011alv.1_Intron|DEPDC5_uc003alt.2_Missense_Mutation_p.S692F|DEPDC5_uc003alu.2_Missense_Mutation_p.S132F|DEPDC5_uc003alv.2_Intron|DEPDC5_uc011alw.1_Missense_Mutation_p.S13F|DEPDC5_uc011alt.1_Intron	p.S692F	NM_014662	NP_055477	O75140	DEPD5_HUMAN			24	2217	+			692					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.2075C>T	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162072	0.78226	.	.	ENSG00000100150	ENST00000266091;ENST00000400249;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T	0.26957	1.85;1.7;1.84;1.7;1.84;1.7	5.37	5.37	0.77165	.	0.416827	0.29119	N	0.013100	T	0.35508	0.0934	L	0.48642	1.525	0.80722	D	1	P;P;P;B;B	0.46220	0.828;0.694;0.874;0.412;0.412	P;B;B;B;B	0.50136	0.632;0.243;0.444;0.133;0.259	T	0.04017	-1.0984	10	0.62326	D	0.03	.	16.1893	0.81975	0.0:1.0:0.0:0.0	.	13;692;692;692;692	B4DSS1;B9EGN9;O75140-4;A8MPX9;O75140	.;.;.;.;DEPD5_HUMAN	F	692	ENSP00000266091:S692F;ENSP00000383108:S692F;ENSP00000383105:S692F;ENSP00000371546:S692F;ENSP00000371545:S692F;ENSP00000383107:S692F	ENSP00000266091:S692F	S	+	2	0	DEPDC5	30548747	0.840000	0.29493	0.975000	0.42487	0.937000	0.57800	2.772000	0.47678	2.665000	0.90641	0.591000	0.81541	TCT		PASS	0.527	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		17	97	17	97	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36688126	36688126	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:36688126C>T	ENST00000216181.5	-	31	4480	c.4250G>A	c.(4249-4251)cGg>cAg	p.R1417Q		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1417					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)	p.R1417Q(1)		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						CTGCTGCAGCCGCGTCTTGGT	0.622			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				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		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(4249-4251)CGG>CAG		myosin, heavy polypeptide 9, non-muscle							78.0	68.0	71.0					22																	36688126		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.chr22:36688126C>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.4250G>A	22.37:g.36688126C>T	ENSP00000216181:p.Arg1417Gln						p.R1417Q	NM_002473	NP_002464	P35579	MYH9_HUMAN			31	4481	-			1417			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.4250G>A	CCDS13927.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.602990|5.602990	0.96614|0.96614	.|.	.|.	ENSG00000100345|ENSG00000100345	ENST00000397231|ENST00000216181	.|D	.|0.83250	.|-1.7	4.8|4.8	4.8|4.8	0.61643|0.61643	.|Myosin tail (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91683|0.91683	0.7371|0.7371	M|M	0.90145|0.90145	3.09|3.09	0.80722|0.80722	D|D	1|1	.|D	.|0.60160	.|0.987	.|P	.|0.59221	.|0.854	D|D	0.93657|0.93657	0.6978|0.6978	6|10	0.87932|0.87932	D|D	0|0	.|.	18.2076|18.2076	0.89859|0.89859	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1417	.|P35579	.|MYH9_HUMAN	S|Q	20|1417	.|ENSP00000216181:R1417Q	ENSP00000380408:G20S|ENSP00000216181:R1417Q	G|R	-|-	1|2	0|0	MYH9|MYH9	35018072|35018072	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.936000|0.936000	0.57629|0.57629	6.047000|6.047000	0.71038|0.71038	2.352000|2.352000	0.79861|0.79861	0.462000|0.462000	0.41574|0.41574	GGC|CGG		PASS	0.622	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		10	213	10	213	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36710282	36710282	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:36710282C>G	ENST00000216181.5	-	13	1692	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	488	Myosin motor.				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)	p.E488Q(1)		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						TCCTCCTGCTCCAGGATGAAC	0.527			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				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		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(1462-1464)GAG>CAG		myosin, heavy polypeptide 9, non-muscle							200.0	152.0	168.0					22																	36710282		2203	4298	6501	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.chr22:36710282C>G		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1462G>C	22.37:g.36710282C>G	ENSP00000216181:p.Glu488Gln					MYH9_uc003aph.1_Missense_Mutation_p.E352Q	p.E488Q	NM_002473	NP_002464	P35579	MYH9_HUMAN			13	1693	-			488			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1462G>C	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959461	0.74016	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.92595	-3.07	5.05	4.02	0.46733	Myosin head, motor domain (2);	0.051463	0.85682	D	0.000000	D	0.94515	0.8234	H	0.95780	3.72	0.80722	D	1	P	0.46912	0.886	B	0.41764	0.366	D	0.95478	0.8558	10	0.87932	D	0	.	15.5219	0.75871	0.0:0.861:0.139:0.0	.	488	P35579	MYH9_HUMAN	Q	352;488	ENSP00000216181:E488Q	ENSP00000216181:E488Q	E	-	1	0	MYH9	35040228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.260000	0.44134	0.558000	0.71614	GAG		PASS	0.527	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		12	268	12	268	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38111832	38111832	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:38111832G>A	ENST00000406386.3	+	6	774	c.519G>A	c.(517-519)atG>atA	p.M173I		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	173					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.M173I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCGCAGTGATGATCCCGAGGA	0.642																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(517-519)ATG>ATA		TRIO and F-actin binding protein isoform 6							29.0	37.0	35.0					22																	38111832		1918	4114	6032	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38111832G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.519G>A	22.37:g.38111832G>A	ENSP00000384312:p.Met173Ile					TRIOBP_uc003atu.2_Missense_Mutation_p.M1I|TRIOBP_uc003atq.1_Missense_Mutation_p.M173I|TRIOBP_uc003ats.1_Missense_Mutation_p.M1I	p.M173I	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			6	790	+	Melanoma(58;0.0574)		173					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.519G>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538461	0.27475	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.33216	1.42	5.12	5.12	0.69794	.	.	.	.	.	T	0.23451	0.0567	L	0.27053	0.805	0.80722	D	1	B	0.29862	0.259	B	0.28638	0.092	T	0.04216	-1.0968	9	0.46703	T	0.11	.	13.9869	0.64341	0.0:0.0:1.0:0.0	.	173	Q9H2D6	TARA_HUMAN	I	173	ENSP00000384312:M173I	ENSP00000384312:M173I	M	+	3	0	TRIOBP	36441778	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	4.151000	0.58105	2.674000	0.91012	0.555000	0.69702	ATG		PASS	0.642	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			20	94	20	94	---	---	---	---
KCNJ4	3761	broad.mit.edu	37	22	38823646	38823646	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:38823646G>T	ENST00000303592.3	-	2	750	c.492C>A	c.(490-492)gaC>gaA	p.D164E	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	164		Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium. {ECO:0000250}.			potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)	p.D164E(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TCATGAAGGAGTCGATGACGC	0.632																																						uc003avs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)GAC>GAA		potassium inwardly-rectifying channel J4							62.0	56.0	58.0					22																	38823646		2203	4300	6503	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823646G>T	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.492C>A	22.37:g.38823646G>T	ENSP00000306497:p.Asp164Glu					KCNJ4_uc003avt.1_Missense_Mutation_p.D164E	p.D164E	NM_004981	NP_004972	P48050	IRK4_HUMAN			2	589	-	Melanoma(58;0.0286)		164			Helical; Name=M2; (By similarity).	Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium (By similarity).	Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.492C>A	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545330	0.86022	.	.	ENSG00000168135	ENST00000303592	D	0.93763	-3.28	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.96621	0.9459	10	0.87932	D	0	.	18.5997	0.91244	0.0:0.0:1.0:0.0	.	164	P48050	IRK4_HUMAN	E	164	ENSP00000306497:D164E	ENSP00000306497:D164E	D	-	3	2	KCNJ4	37153592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.733000	0.68571	2.472000	0.83506	0.555000	0.69702	GAC		PASS	0.632	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		48	93	48	93	---	---	---	---
GTPBP1	9567	broad.mit.edu	37	22	39112737	39112737	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:39112737G>A	ENST00000216044.5	+	4	799	c.566G>A	c.(565-567)cGa>cAa	p.R189Q		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	189	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R189Q(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GACAATGGCCGAGGCTTTGCC	0.562																																						uc003awg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(565-567)CGA>CAA		GTP binding protein 1							54.0	53.0	53.0					22																	39112737		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39112737G>A	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.566G>A	22.37:g.39112737G>A	ENSP00000216044:p.Arg189Gln						p.R189Q	NM_004286	NP_004277	O00178	GTPB1_HUMAN			4	720	+	Melanoma(58;0.04)		189					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.566G>A	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	G	35	5.512453	0.96402	.	.	ENSG00000100226	ENST00000216044;ENST00000484657	T;T	0.70399	0.98;-0.48	5.14	5.14	0.70334	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.85500	0.5711	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.86803	0.1993	10	0.52906	T	0.07	.	18.5812	0.91171	0.0:0.0:1.0:0.0	.	189	O00178	GTPB1_HUMAN	Q	189;108	ENSP00000216044:R189Q;ENSP00000442881:R108Q	ENSP00000216044:R189Q	R	+	2	0	GTPBP1	37442683	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	9.747000	0.98863	2.379000	0.81126	0.551000	0.68910	CGA		PASS	0.562	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		20	107	20	107	---	---	---	---
CBX7	23492	broad.mit.edu	37	22	39530740	39530740	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:39530740G>T	ENST00000216133.5	-	5	469	c.264C>A	c.(262-264)gaC>gaA	p.D88E	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	88					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sebaceous gland development (GO:0048733)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|single-stranded RNA binding (GO:0003727)	p.D88E(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					AGCTCCGCAGGTCCATGCTGT	0.697																																					GBM(46;845 904 3560 9866 23971)	uc003axb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(262-264)GAC>GAA		chromobox homolog 7							8.0	7.0	7.0					22																	39530740		2122	4154	6276	SO:0001583	missense	23492				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex		g.chr22:39530740G>T		CCDS13986.1	22q13.1	2010-07-06			ENSG00000100307	ENSG00000100307			1557	protein-coding gene	gene with protein product		608457					Standard	NM_175709		Approved		uc003axb.3	O95931	OTTHUMG00000150418	ENST00000216133.5:c.264C>A	22.37:g.39530740G>T	ENSP00000216133:p.Asp88Glu					CBX7_uc003axc.2_Intron	p.D88E	NM_175709	NP_783640	O95931	CBX7_HUMAN			5	353	-	Melanoma(58;0.04)		88					Q86T17	Missense_Mutation	SNP	ENST00000216133.5	37	c.264C>A	CCDS13986.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275508	0.80580	.	.	ENSG00000100307	ENST00000216133;ENST00000434260	T;T	0.56776	0.44;0.44	4.61	3.56	0.40772	.	0.798663	0.12030	N	0.506100	T	0.55970	0.1954	L	0.39898	1.24	0.80722	D	1	D	0.62365	0.991	P	0.55923	0.787	T	0.44436	-0.9328	10	0.20046	T	0.44	.	13.6511	0.62312	0.0805:0.0:0.9195:0.0	.	88	O95931	CBX7_HUMAN	E	88;66	ENSP00000216133:D88E;ENSP00000410896:D66E	ENSP00000216133:D88E	D	-	3	2	CBX7	37860686	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.380000	0.44327	2.292000	0.77174	0.549000	0.68633	GAC		PASS	0.697	CBX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318020.1	NM_175709		6	6	6	6	---	---	---	---
SGSM3	27352	broad.mit.edu	37	22	40802122	40802122	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:40802122C>T	ENST00000248929.9	+	9	1044	c.855C>T	c.(853-855)ttC>ttT	p.F285F	SGSM3_ENST00000454798.2_Silent_p.F218F	NM_015705.4	NP_056520.2			small G protein signaling modulator 3									p.F285F(1)		cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCACGGCCTTCGCCAGCGTGG	0.617																																						uc003ayu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(853-855)TTC>TTT		small G protein signaling modulator 3							99.0	84.0	89.0					22																	40802122		2203	4300	6503	SO:0001819	synonymous_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40802122C>T	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.855C>T	22.37:g.40802122C>T						SGSM3_uc010gyc.1_Silent_p.F285F|SGSM3_uc011aos.1_Silent_p.F218F|SGSM3_uc011aot.1_Silent_p.F222F|SGSM3_uc010gyd.1_Silent_p.F285F	p.F285F	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN			9	1064	+			285			Rab-GAP TBC.			Silent	SNP	ENST00000248929.9	37	c.855C>T	CCDS14002.1																																																																																				PASS	0.617	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		12	270	12	270	---	---	---	---
XPNPEP3	63929	broad.mit.edu	37	22	41265114	41265114	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:41265114G>C	ENST00000357137.4	+	2	260	c.176G>C	c.(175-177)aGa>aCa	p.R59T	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.R59T|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.R36T|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.R59T	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	59					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)	p.R59T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CACCTCCTCAGACCAGGTAAG	0.498																																					Ovarian(145;306 1841 7037 21878 30110)	uc003azh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)AGA>ACA		X-prolyl aminopeptidase (aminopeptidase P) 3,							176.0	168.0	171.0					22																	41265114		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41265114G>C		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.176G>C	22.37:g.41265114G>C	ENSP00000349658:p.Arg59Thr					XPNPEP3_uc011aox.1_Missense_Mutation_p.R59T|XPNPEP3_uc003azi.2_5'UTR|XPNPEP3_uc011aoy.1_RNA|XPNPEP3_uc010gyh.1_RNA	p.R59T	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN			2	268	+			59					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.176G>C	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355778	0.41700	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T	0.78924	-1.22;-1.21	5.43	5.43	0.79202	.	0.257041	0.45606	D	0.000350	T	0.69806	0.3152	L	0.50333	1.59	0.39695	D	0.97109	B;B	0.34290	0.447;0.023	B;B	0.32980	0.156;0.019	T	0.71062	-0.4701	10	0.44086	T	0.13	.	8.7923	0.34859	0.1334:0.0:0.8666:0.0	.	59;59	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	T	59;59;59;36	ENSP00000349658:R59T;ENSP00000441942:R36T	ENSP00000349658:R59T	R	+	2	0	XPNPEP3	39595060	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.415000	0.34748	2.545000	0.85829	0.561000	0.74099	AGA		PASS	0.498	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		9	275	9	275	---	---	---	---
XPNPEP3	63929	broad.mit.edu	37	22	41265120	41265120	+	Splice_Site	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:41265120G>T	ENST00000357137.4	+	2	265		c.e2+1		XPNPEP3_ENST00000414396.1_Splice_Site|XPNPEP3_ENST00000544094.1_Splice_Site|XPNPEP3_ENST00000541156.1_Splice_Site	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative						glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)	p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CTCAGACCAGGTAAGGCCTTT	0.502																																					Ovarian(145;306 1841 7037 21878 30110)	uc003azh.2																			1	Unknown(1)		lung(1)		0						c.e2+1		X-prolyl aminopeptidase (aminopeptidase P) 3,							167.0	160.0	163.0					22																	41265120		2203	4300	6503	SO:0001630	splice_region_variant	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41265120G>T		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.181+1G>T	22.37:g.41265120G>T						XPNPEP3_uc011aox.1_Splice_Site_p.G61_splice|XPNPEP3_uc003azi.2_Splice_Site|XPNPEP3_uc011aoy.1_Splice_Site|XPNPEP3_uc010gyh.1_Splice_Site	p.G61_splice	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN			2	273	+								B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Splice_Site	SNP	ENST00000357137.4	37	c.181_splice	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081636	0.76528	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0145	0.86414	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	XPNPEP3	39595066	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.029000	0.76477	2.545000	0.85829	0.561000	0.74099	.		PASS	0.502	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098	Intron	8	263	8	263	---	---	---	---
XPNPEP3	63929	broad.mit.edu	37	22	41322407	41322407	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:41322407G>C	ENST00000357137.4	+	10	1576	c.1492G>C	c.(1492-1494)Gac>Cac	p.D498H	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.D475H	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	498					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)	p.D498H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						AGAGATGAATGACATTGAACA	0.507																																					Ovarian(145;306 1841 7037 21878 30110)	uc003azh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1492-1494)GAC>CAC		X-prolyl aminopeptidase (aminopeptidase P) 3,							189.0	177.0	181.0					22																	41322407		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41322407G>C		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1492G>C	22.37:g.41322407G>C	ENSP00000349658:p.Asp498His					XPNPEP3_uc003azi.2_Missense_Mutation_p.D419H|XPNPEP3_uc011aoy.1_RNA	p.D498H	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN			10	1584	+			498					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.1492G>C	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	G	9.677	1.148155	0.21288	.	.	ENSG00000196236	ENST00000357137;ENST00000544094;ENST00000465561	T;T	0.76968	-1.06;-1.06	5.47	4.43	0.53597	Peptidase M24, structural domain (2);	0.308296	0.38381	N	0.001705	T	0.75737	0.3890	L	0.58354	1.805	0.50171	D	0.999854	B	0.09022	0.002	B	0.08055	0.003	T	0.73294	-0.4028	10	0.48119	T	0.1	-15.6611	18.3694	0.90402	0.0:0.1823:0.8177:0.0	.	498	Q9NQH7	XPP3_HUMAN	H	498;475;19	ENSP00000349658:D498H;ENSP00000441942:D475H	ENSP00000349658:D498H	D	+	1	0	XPNPEP3	39652353	0.988000	0.35896	0.756000	0.31282	0.930000	0.56654	1.727000	0.38095	2.559000	0.86315	0.563000	0.77884	GAC		PASS	0.507	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		16	416	16	416	---	---	---	---
XPNPEP3	63929	broad.mit.edu	37	22	41322413	41322413	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:41322413G>A	ENST00000357137.4	+	10	1582	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.E477K	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	500					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)	p.E500K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GAATGACATTGAACAGATATG	0.507																																					Ovarian(145;306 1841 7037 21878 30110)	uc003azh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1498-1500)GAA>AAA		X-prolyl aminopeptidase (aminopeptidase P) 3,							182.0	171.0	175.0					22																	41322413		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41322413G>A		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1498G>A	22.37:g.41322413G>A	ENSP00000349658:p.Glu500Lys					XPNPEP3_uc003azi.2_Missense_Mutation_p.E421K|XPNPEP3_uc011aoy.1_RNA	p.E500K	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN			10	1590	+			500					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.1498G>A	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146368	0.57044	.	.	ENSG00000196236	ENST00000357137;ENST00000544094;ENST00000465561	T;T	0.79141	-1.24;-1.24	5.47	4.44	0.53790	Peptidase M24, structural domain (2);	0.152719	0.56097	D	0.000022	T	0.80071	0.4556	M	0.83118	2.625	0.51767	D	0.999933	P	0.48294	0.908	B	0.44224	0.444	T	0.82577	-0.0388	10	0.87932	D	0	-18.8792	11.1568	0.48493	0.0:0.1389:0.7167:0.1444	.	500	Q9NQH7	XPP3_HUMAN	K	500;477;21	ENSP00000349658:E500K;ENSP00000441942:E477K	ENSP00000349658:E500K	E	+	1	0	XPNPEP3	39652359	1.000000	0.71417	0.100000	0.21137	0.828000	0.46876	5.277000	0.65586	1.264000	0.44198	0.563000	0.77884	GAA		PASS	0.507	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		15	411	15	411	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41574082	41574082	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:41574082G>T	ENST00000263253.7	+	31	7586	c.6367G>T	c.(6367-6369)Ggg>Tgg	p.G2123W	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2123	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.G2123W(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGGTCAGCAGGGGGTCCACTC	0.622			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3				Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(6367-6369)GGG>TGG		E1A binding protein p300							51.0	46.0	48.0					22																	41574082		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574082G>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6367G>T	22.37:g.41574082G>T	ENSP00000263253:p.Gly2123Trp						p.G2123W	NM_001429	NP_001420	Q09472	EP300_HUMAN			31	6762	+			2123			Interaction with HTLV-1 Tax.|Interaction with NCOA2.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.6367G>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810268	0.32053	.	.	ENSG00000100393	ENST00000263253	D	0.85556	-2.0	4.93	3.91	0.45181	.	0.000000	0.49305	D	0.000150	T	0.80576	0.4649	L	0.47716	1.5	0.38439	D	0.946667	B	0.09022	0.002	B	0.08055	0.003	T	0.77477	-0.2573	10	0.48119	T	0.1	-5.6604	13.238	0.59982	0.0778:0.0:0.9222:0.0	.	2123	Q09472	EP300_HUMAN	W	2123	ENSP00000263253:G2123W	ENSP00000263253:G2123W	G	+	1	0	EP300	39904028	1.000000	0.71417	0.990000	0.47175	0.890000	0.51754	5.433000	0.66520	1.074000	0.40909	-0.266000	0.10368	GGG		PASS	0.622	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		41	144	41	144	---	---	---	---
PHF21B	112885	broad.mit.edu	37	22	45312239	45312239	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:45312239G>A	ENST00000313237.5	-	4	635	c.485C>T	c.(484-486)gCc>gTc	p.A162V	PHF21B_ENST00000404079.2_Missense_Mutation_p.A150V|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000447824.3_Missense_Mutation_p.A150V|PHF21B_ENST00000396103.3_Missense_Mutation_p.A162V	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	162							zinc ion binding (GO:0008270)	p.A162V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGGGGCCATGGCGGCGGCATT	0.682																																						uc003bfn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(484-486)GCC>GTC		PHD finger protein 21B isoform 1							23.0	28.0	26.0					22																	45312239		2202	4297	6499	SO:0001583	missense	112885						zinc ion binding	g.chr22:45312239G>A	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.485C>T	22.37:g.45312239G>A	ENSP00000324403:p.Ala162Val					PHF21B_uc003bfm.2_5'UTR|PHF21B_uc011aqk.1_Missense_Mutation_p.A150V|PHF21B_uc011aql.1_Missense_Mutation_p.A162V|PHF21B_uc011aqm.1_Missense_Mutation_p.A150V	p.A162V	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	4	636	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	162					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	c.485C>T	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937196	0.73557	.	.	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	D;D;D;T;T	0.82167	-1.58;-1.54;-1.53;1.47;0.83	5.09	5.09	0.68999	.	0.553976	0.16409	N	0.215661	T	0.70561	0.3238	N	0.22421	0.69	0.26298	N	0.978024	B;B;B;B	0.32939	0.328;0.161;0.22;0.391	B;B;B;B	0.24394	0.053;0.053;0.024;0.053	T	0.55566	-0.8121	10	0.07990	T	0.79	-24.1284	18.516	0.90936	0.0:0.0:1.0:0.0	.	150;162;150;162	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	V	162;162;150;150;150	ENSP00000324403:A162V;ENSP00000379410:A162V;ENSP00000385105:A150V;ENSP00000388619:A150V;ENSP00000401294:A150V	ENSP00000324403:A162V	A	-	2	0	PHF21B	43690903	0.963000	0.33076	0.999000	0.59377	0.943000	0.58893	4.389000	0.59639	2.368000	0.80403	0.655000	0.94253	GCC		PASS	0.682	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		21	52	21	52	---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50718176	50718176	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr22:50718176G>A	ENST00000449103.1	-	27	4412	c.4272C>T	c.(4270-4272)ctC>ctT	p.L1424L	PLXNB2_ENST00000359337.4_Silent_p.L1424L			O15031	PLXB2_HUMAN	plexin B2	1424					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.L1467L(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCCTTGAAGAGCTTGTACA	0.632																																						uc003bkv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4270-4272)CTC>CTT		plexin B2 precursor							136.0	146.0	143.0					22																	50718176		1906	4112	6018	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50718176G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4272C>T	22.37:g.50718176G>A						PLXNB2_uc003bkt.1_Silent_p.L216L|PLXNB2_uc003bku.1_Silent_p.L409L	p.L1424L	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	27	4378	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1424			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.4272C>T	CCDS43035.1																																																																																				PASS	0.632	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		46	592	46	592	---	---	---	---
PPP2R3B	28227	broad.mit.edu	37	X	322173	322173	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:322173C>T	ENST00000390665.3	-	2	495	c.477G>A	c.(475-477)agG>agA	p.R159R		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	159					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R159R(1)		endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCATGGTGGCCCTCTCGTGGG	0.647																																						uc004cpg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(475-477)AGG>AGA		protein phosphatase 2, regulatory subunit B'',							158.0	188.0	178.0					X																	322173		2181	4260	6441	SO:0001819	synonymous_variant	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:322173C>T	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.477G>A	X.37:g.322173C>T						PPP2R3B_uc011mha.1_5'UTR	p.R159R	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN			2	678	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	159					Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	ENST00000390665.3	37	c.477G>A	CCDS14104.1																																																																																				PASS	0.647	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		22	95	22	95	---	---	---	---
P2RY8	286530	broad.mit.edu	37	X	1584849	1584849	+	Silent	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:1584849C>A	ENST00000381297.4	-	2	813	c.603G>T	c.(601-603)ctG>ctT	p.L201L	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.L201L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGATGAGGAACAGCAGGATGA	0.632			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	uc004cpz.2				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		B-ALL|Downs associated ALL		1	Substitution - coding silent(1)		lung(1)	lung(5)	5						c.(601-603)CTG>CTT		G-protein coupled purinergic receptor P2Y8							135.0	71.0	93.0					X																	1584849		2203	4296	6499	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584849C>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.603G>T	X.37:g.1584849C>A							p.L201L	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			2	851	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	201			Helical; Name=5; (Potential).			Silent	SNP	ENST00000381297.4	37	c.603G>T	CCDS14115.1																																																																																				PASS	0.632	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		17	64	17	64	---	---	---	---
PRKX	5613	broad.mit.edu	37	X	3573384	3573384	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:3573384G>A	ENST00000262848.5	-	3	759	c.405C>T	c.(403-405)ttC>ttT	p.F135F	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.F135F(1)		kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GCAGGTAGCTGAAGAGCTCGC	0.612																																						uc010nde.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|lung(1)	3						c.(403-405)TTC>TTT		protein kinase, X-linked							69.0	64.0	66.0					X																	3573384		2203	4300	6503	SO:0001819	synonymous_variant	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3573384G>A		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.405C>T	X.37:g.3573384G>A							p.F135F	NM_005044	NP_005035	P51817	PRKX_HUMAN			3	772	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	135			Protein kinase.			Silent	SNP	ENST00000262848.5	37	c.405C>T	CCDS14125.1																																																																																				PASS	0.612	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		44	49	44	49	---	---	---	---
MSL3	10943	broad.mit.edu	37	X	11780326	11780326	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:11780326G>C	ENST00000312196.4	+	6	648	c.543G>C	c.(541-543)aaG>aaC	p.K181N	MSL3_ENST00000361672.2_Missense_Mutation_p.K32N|MSL3_ENST00000337339.2_Missense_Mutation_p.K181N|MSL3_ENST00000380693.3_Missense_Mutation_p.K15N|MSL3_ENST00000398527.2_Missense_Mutation_p.K169N	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	181	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K181N(2)		breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						AAGTTCTGAAGAAGCAGCTGG	0.348																																						uc004cuw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(541-543)AAG>AAC		male-specific lethal 3-like 1 isoform a							99.0	93.0	95.0					X																	11780326		2203	4299	6502	SO:0001583	missense	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11780326G>C	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.543G>C	X.37:g.11780326G>C	ENSP00000312244:p.Lys181Asn					MSL3_uc004cuv.1_Missense_Mutation_p.K181N|MSL3_uc004cux.2_Missense_Mutation_p.K122N|MSL3_uc011mig.1_Missense_Mutation_p.K32N|MSL3_uc011mih.1_Missense_Mutation_p.K169N|MSL3_uc004cuy.2_Missense_Mutation_p.K15N|MSL3_uc011mii.1_Missense_Mutation_p.K15N	p.K181N	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN			6	648	+			181					A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	c.543G>C	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724752	0.68959	.	.	ENSG00000005302	ENST00000312196;ENST00000337339;ENST00000361672;ENST00000476743;ENST00000421368;ENST00000398527;ENST00000380693;ENST00000380692	T;T;T;D;T;T;T;T	0.82984	2.35;2.35;2.35;-1.67;2.35;2.35;2.35;2.35	4.99	4.12	0.48240	Chromo domain-like (1);	0.052890	0.64402	D	0.000001	D	0.91161	0.7216	M	0.90019	3.08	0.48087	D	0.999586	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.997	D;D;D;D;D	0.87578	0.984;0.997;0.994;0.998;0.969	D	0.90812	0.4702	10	0.87932	D	0	.	8.0933	0.30813	0.2541:0.0:0.7458:0.0	.	169;32;122;181;181	B4DUV8;B7Z227;Q8N5Y2-2;Q8N5Y2;A6NHW8	.;.;.;MS3L1_HUMAN;.	N	181;181;32;15;169;169;15;15	ENSP00000312244:K181N;ENSP00000338078:K181N;ENSP00000354562:K32N;ENSP00000419976:K15N;ENSP00000401809:K169N;ENSP00000381538:K169N;ENSP00000370069:K15N;ENSP00000370068:K15N	ENSP00000312244:K181N	K	+	3	2	MSL3	11690247	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.931000	0.56529	1.001000	0.39076	0.600000	0.82982	AAG		PASS	0.348	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		5	111	5	111	---	---	---	---
GRPR	2925	broad.mit.edu	37	X	16170735	16170735	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:16170735C>T	ENST00000380289.2	+	3	1520	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000435789.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	374					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)	p.I374I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TTAGCCTCATCAATGGAAACA	0.532																																						uc004cxj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)	4						c.(1120-1122)ATC>ATT		gastrin-releasing peptide receptor							166.0	154.0	158.0					X																	16170735		2203	4300	6503	SO:0001819	synonymous_variant	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16170735C>T		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.1122C>T	X.37:g.16170735C>T							p.I374I	NM_005314	NP_005305	P30550	GRPR_HUMAN			3	1775	+	Hepatocellular(33;0.183)		374			Cytoplasmic (Potential).		B2R910	Silent	SNP	ENST00000380289.2	37	c.1122C>T	CCDS14174.1																																																																																				PASS	0.532	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		70	100	70	100	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53634648	53634648	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:53634648C>T	ENST00000342160.3	-	24	2789	c.2332G>A	c.(2332-2334)Gaa>Aaa	p.E778K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E778K|HUWE1_ENST00000218328.8_Missense_Mutation_p.E778K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	778					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.E778K(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGAATAGATTCCACAAATTTC	0.403																																						uc004dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(2332-2334)GAA>AAA		HECT, UBA and WWE domain containing 1							80.0	66.0	71.0					X																	53634648		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53634648C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2332G>A	X.37:g.53634648C>T	ENSP00000340648:p.Glu778Lys						p.E778K	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			25	2734	-			778					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.2332G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243596	0.79912	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.39787	1.06;1.06;1.06	5.39	5.39	0.77823	E3 ubiquitin ligase, domain of unknown function DUF913 (1);	0.338376	0.29956	N	0.010767	T	0.48150	0.1484	M	0.65975	2.015	0.58432	D	0.999999	B	0.33777	0.425	B	0.37508	0.252	T	0.51529	-0.8694	10	0.59425	D	0.04	.	16.8004	0.85612	0.0:1.0:0.0:0.0	.	778	Q7Z6Z7	HUWE1_HUMAN	K	778	ENSP00000340648:E778K;ENSP00000262854:E778K;ENSP00000218328:E778K	ENSP00000218328:E778K	E	-	1	0	HUWE1	53651373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.136000	0.77285	2.492000	0.84095	0.600000	0.82982	GAA		PASS	0.403	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		5	10	5	10	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54814948	54814948	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:54814948C>T	ENST00000218436.6	-	5	780	c.751G>A	c.(751-753)Gat>Aat	p.D251N	ITIH6_ENST00000498398.1_5'UTR	NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	251					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D251N(1)									ATGACCACATCGTACTGAACC	0.577																																						uc004dtj.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(751-753)GAT>AAT		inter-alpha (globulin) inhibitor H5-like							166.0	99.0	121.0					X																	54814948		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54814948C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.751G>A	X.37:g.54814948C>T	ENSP00000218436:p.Asp251Asn						p.D251N	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			5	781	-			251					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.751G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532265	0.45073	.	.	ENSG00000102313	ENST00000218436	T	0.03468	3.92	4.26	3.35	0.38373	.	0.000000	0.64402	U	0.000001	T	0.06005	0.0156	M	0.79011	2.435	0.30900	N	0.729373	P	0.34412	0.453	B	0.27170	0.077	T	0.03231	-1.1058	10	0.66056	D	0.02	.	9.793	0.40717	0.2069:0.7931:0.0:0.0	.	251	Q6UXX5	ITH5L_HUMAN	N	251	ENSP00000218436:D251N	ENSP00000218436:D251N	D	-	1	0	ITIH5L	54831673	0.999000	0.42202	0.002000	0.10522	0.060000	0.15804	3.980000	0.56895	0.573000	0.29400	0.171000	0.16805	GAT		PASS	0.577	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		6	76	6	76	---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62885838	62885838	+	Silent	SNP	G	G	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:62885838G>A	ENST00000253401.6	-	7	1784	c.984C>T	c.(982-984)atC>atT	p.I328I	ARHGEF9_ENST00000495564.1_Intron|ARHGEF9_ENST00000374878.1_Silent_p.I326I|ARHGEF9_ENST00000374870.4_Silent_p.I226I|ARHGEF9_ENST00000374872.1_Silent_p.I307I|ARHGEF9_ENST00000437457.2_Silent_p.I275I|ARHGEF9_ENST00000433323.2_Intron	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	328	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I326I(1)|p.I328I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						AGGGCTGGTAGATCCAGGCCA	0.592																																						uc004dvl.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						c.(982-984)ATC>ATT		Cdc42 guanine exchange factor 9							132.0	101.0	112.0					X																	62885838		2203	4300	6503	SO:0001819	synonymous_variant	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62885838G>A	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.984C>T	X.37:g.62885838G>A						ARHGEF9_uc004dvj.1_Silent_p.I217I|ARHGEF9_uc004dvk.1_Intron|ARHGEF9_uc011mos.1_Silent_p.I307I|ARHGEF9_uc004dvm.1_Silent_p.I307I|ARHGEF9_uc011mot.1_Silent_p.I275I|ARHGEF9_uc004dvn.2_Silent_p.I335I	p.I328I	NM_015185	NP_056000	O43307	ARHG9_HUMAN			7	1823	-			328			PH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Silent	SNP	ENST00000253401.6	37	c.984C>T	CCDS35315.1																																																																																				PASS	0.592	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			5	37	5	37	---	---	---	---
APOOL	139322	broad.mit.edu	37	X	84306418	84306418	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:84306418G>T	ENST00000373173.2	+	3	231	c.144G>T	c.(142-144)ccG>ccT	p.P48P		NM_198450.5	NP_940852.3	Q6UXV4	MIC27_HUMAN	apolipoprotein O-like	48						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.P48P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGCACCACCGCTCCAGTCTA	0.443																																						uc004eem.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(142-144)CCG>CCT		apolipoprotein O-like precursor							93.0	81.0	85.0					X																	84306418		1861	4100	5961	SO:0001819	synonymous_variant	139322					extracellular region		g.chrX:84306418G>T	AK130506	CCDS48138.1	Xq21.1	2007-01-17	2007-01-17	2007-01-17	ENSG00000155008	ENSG00000155008			24009	protein-coding gene	gene with protein product			"""chromosome X open reading frame 33"", ""family with sequence similarity 121A"""	CXorf33, FAM121A		12975309	Standard	NM_198450		Approved	UNQ8193, AAIR8193	uc004eem.3	Q6UXV4	OTTHUMG00000021930	ENST00000373173.2:c.144G>T	X.37:g.84306418G>T						APOOL_uc010nmp.2_Intron	p.P48P	NM_198450	NP_940852	Q6UXV4	APOOL_HUMAN			3	158	+			48					Q3KNU7|Q5H9D1	Silent	SNP	ENST00000373173.2	37	c.144G>T	CCDS48138.1																																																																																				PASS	0.443	APOOL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057385.2	NM_198450		22	21	22	21	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91873448	91873448	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:91873448C>T	ENST00000373094.1	+	7	4398	c.3553C>T	c.(3553-3555)Cac>Tac	p.H1185Y	PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1167Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1177Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1148Y|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1148Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1175Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1185					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H1185Y(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACTCAGCACCACAGCCCACG	0.592																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(3553-3555)CAC>TAC		protocadherin 11 X-linked isoform c							220.0	168.0	186.0					X																	91873448		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873448C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3553C>T	X.37:g.91873448C>T	ENSP00000362186:p.His1185Tyr					PCDH11X_uc004efl.1_Missense_Mutation_p.H1175Y|PCDH11X_uc004efo.1_Missense_Mutation_p.H1148Y|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.H1177Y|PCDH11X_uc004efn.1_Missense_Mutation_p.H1167Y	p.H1185Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4398	+			1185			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3553C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	6.643	0.487162	0.12641	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.50277	0.75;0.77;0.8;0.75;0.77;0.79	3.82	-1.48	0.08745	.	.	.	.	.	T	0.12561	0.0305	N	0.00926	-1.1	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.24799	-1.0150	9	0.02654	T	1	.	4.1949	0.10438	0.1552:0.4305:0.0:0.4142	.	1148;1167;1177;1175;1185	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	Y	1185;1175;1148;1167;1177;1185;1148	ENSP00000362186:H1185Y;ENSP00000362189:H1175Y;ENSP00000362180:H1148Y;ENSP00000355105:H1167Y;ENSP00000384758:H1177Y;ENSP00000298274:H1148Y	ENSP00000298274:H1148Y	H	+	1	0	PCDH11X	91760104	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-0.477000	0.06583	-0.703000	0.05049	0.370000	0.22315	CAC		PASS	0.592	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		39	149	39	149	---	---	---	---
RPA4	29935	broad.mit.edu	37	X	96139863	96139863	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:96139863C>G	ENST00000373040.3	+	1	957	c.554C>G	c.(553-555)tCa>tGa	p.S185*	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	185					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.S185*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GTGTCTCCATCAGAAGTGAAT	0.483								Other identified genes with known or suspected DNA repair function																														uc004efv.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(553-555)TCA>TGA	Other_identified_genes_with_known_or_suspected_DNA_repair_function	replication protein A4, 34kDa							152.0	116.0	128.0					X																	96139863		2203	4300	6503	SO:0001587	stop_gained	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96139863C>G	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.554C>G	X.37:g.96139863C>G	ENSP00000362131:p.Ser185*					DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	p.S185*	NM_013347	NP_037479	Q13156	RFA4_HUMAN			1	852	+			185					Q3SY03	Nonsense_Mutation	SNP	ENST00000373040.3	37	c.554C>G	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547291	0.86022	.	.	ENSG00000204086	ENST00000373040	.	.	.	2.89	-0.907	0.10521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-0.316	6.266	0.20928	0.0:0.4384:0.0:0.5616	.	.	.	.	X	185	.	ENSP00000362131:S185X	S	+	2	0	RPA4	96026519	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.204000	0.09425	-0.387000	0.07809	0.513000	0.50165	TCA		PASS	0.483	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		15	136	15	136	---	---	---	---
TCEAL6	158931	broad.mit.edu	37	X	101396087	101396087	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:101396087C>T	ENST00000372774.3	-	3	466	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	TCEAL6_ENST00000372773.1_Missense_Mutation_p.E73K	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	73	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E73K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						CCCTCACCTTCGGACTTGCCC	0.617																																						uc004eiq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(217-219)GAA>AAA		transcription elongation factor A (SII)-like 6							118.0	107.0	111.0					X																	101396087		2203	4300	6503	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101396087C>T	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.217G>A	X.37:g.101396087C>T	ENSP00000361860:p.Glu73Lys						p.E73K	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN			3	378	-			73			Glu-rich.		Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.217G>A	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252842	0.39797	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.24151	1.87;1.87	2.65	1.78	0.24846	.	2.106640	0.02579	N	0.098649	T	0.31009	0.0783	M	0.76170	2.325	0.09310	N	1	B	0.21309	0.054	B	0.12156	0.007	T	0.21008	-1.0258	10	0.27785	T	0.31	.	6.9209	0.24387	0.0:0.8459:0.0:0.1541	.	73	Q6IPX3-2	.	K	73	ENSP00000361860:E73K;ENSP00000361859:E73K	ENSP00000361859:E73K	E	-	1	0	TCEAL6	101282743	0.000000	0.05858	0.002000	0.10522	0.699000	0.40488	-1.942000	0.01541	0.529000	0.28599	0.468000	0.43344	GAA		PASS	0.617	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		82	248	82	248	---	---	---	---
FAM127B	26071	broad.mit.edu	37	X	134185839	134185839	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:134185839C>A	ENST00000370775.2	-	1	366	c.300G>T	c.(298-300)gaG>gaT	p.E100D	FAM127B_ENST00000520964.1_Intron	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B	100								p.E100D(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					CCCGCTTCATCTCGGCCAGGA	0.642																																						uc004eyf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)GAG>GAT		family with sequence similarity 127, member B							47.0	50.0	49.0					X																	134185839		2191	4282	6473	SO:0001583	missense	26071							g.chrX:134185839C>A	AL117556	CCDS43998.1	Xq26.3	2014-05-16			ENSG00000203950	ENSG00000203950			24514	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078172		Approved	DKFZP564B147, MAR8A, CXX1b	uc004eyf.3	Q9BWD3	OTTHUMG00000022466	ENST00000370775.2:c.300G>T	X.37:g.134185839C>A	ENSP00000375267:p.Glu100Asp					FAM127B_uc004eyg.3_Intron	p.E100D	NM_001078172	NP_001071640	Q9BWD3	F127B_HUMAN			1	383	-	Acute lymphoblastic leukemia(192;0.000127)		100					A2A2V9|Q8TBU2	Missense_Mutation	SNP	ENST00000370775.2	37	c.300G>T	CCDS43998.1	.	.	.	.	.	.	.	.	.	.	c	7.667	0.686074	0.14973	.	.	ENSG00000203950	ENST00000370775	T	0.32753	1.44	2.38	2.38	0.29361	.	0.592781	0.12943	U	0.426461	T	0.26955	0.0660	L	0.59436	1.845	0.25967	N	0.982543	B	0.18310	0.027	B	0.15870	0.014	T	0.13176	-1.0519	9	.	.	.	.	7.511	0.27573	0.0:1.0:0.0:0.0	.	100	Q9BWD3	F127B_HUMAN	D	100	ENSP00000375267:E100D	.	E	-	3	2	FAM127B	134013505	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	2.011000	0.40922	1.470000	0.48102	0.292000	0.19580	GAG		PASS	0.642	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058393.2	NM_001078172		27	68	27	68	---	---	---	---
F9	2158	broad.mit.edu	37	X	138619261	138619261	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:138619261G>C	ENST00000218099.2	+	2	188	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	F9_ENST00000394090.2_Missense_Mutation_p.E61Q|F9_ENST00000479617.2_3'UTR	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	61	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.E61Q(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AGGGAACCTTGAGAGAGAATG	0.358																																						uc004fas.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(181-183)GAG>CAG		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						134.0	132.0	133.0					X																	138619261		2203	4297	6500	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138619261G>C	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.181G>C	X.37:g.138619261G>C	ENSP00000218099:p.Glu61Gln					F9_uc004fat.1_Missense_Mutation_p.E61Q	p.E61Q	NM_000133	NP_000124	P00740	FA9_HUMAN			2	210	+	Acute lymphoblastic leukemia(192;0.000127)		61			Gla.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.181G>C	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295020	0.81025	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.99503	-6.03;-6.03	5.19	5.19	0.71726	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	0.000000	0.85682	D	0.000000	D	0.99612	0.9859	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97802	1.0245	10	0.87932	D	0	.	15.0976	0.72247	0.0:0.0:1.0:0.0	.	61;61	Q5FBE1;P00740	.;FA9_HUMAN	Q	61	ENSP00000218099:E61Q;ENSP00000377650:E61Q	ENSP00000218099:E61Q	E	+	1	0	F9	138446927	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.916000	0.75776	2.151000	0.67156	0.600000	0.82982	GAG		PASS	0.358	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			7	212	7	212	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140985492	140985492	+	Silent	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:140985492C>T	ENST00000298296.1	+	8	1806	c.1806C>T	c.(1804-1806)tcC>tcT	p.S602S	MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	602	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.S602S(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTCCATCCTGGTACATGG	0.478																																						uc011mwp.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(1804-1806)TCC>TCT		melanoma antigen family C, 3 isoform 1							90.0	83.0	85.0					X																	140985492		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140985492C>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1806C>T	X.37:g.140985492C>T						MAGEC3_uc004fbs.2_3'UTR|MAGEC3_uc010nsj.2_3'UTR	p.S602S	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			8	1806	+	Acute lymphoblastic leukemia(192;6.56e-05)		602			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.1806C>T	CCDS14676.1																																																																																				PASS	0.478	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		38	119	38	119	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144904038	144904038	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:144904038G>C	ENST00000370490.1	+	1	4350	c.95G>C	c.(94-96)cGc>cCc	p.R32P	SLITRK2_ENST00000428560.2_Missense_Mutation_p.R32P|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R32P|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R32P|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R32P			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	32					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R32P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGATCCGCTGTCTGTGC	0.473																																						uc004fcd.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(94-96)CGC>CCC		SLIT and NTRK-like family, member 2 precursor							86.0	73.0	77.0					X																	144904038		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904038G>C	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.95G>C	X.37:g.144904038G>C	ENSP00000359521:p.Arg32Pro					SLITRK2_uc010nsp.2_Missense_Mutation_p.R32P|SLITRK2_uc010nso.2_Missense_Mutation_p.R32P|SLITRK2_uc011mwq.1_Missense_Mutation_p.R32P|SLITRK2_uc011mwr.1_Missense_Mutation_p.R32P|SLITRK2_uc011mws.1_Missense_Mutation_p.R32P|SLITRK2_uc004fcg.2_Missense_Mutation_p.R32P|SLITRK2_uc011mwt.1_Missense_Mutation_p.R32P	p.R32P	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	1085	+	Acute lymphoblastic leukemia(192;6.56e-05)		32			Extracellular (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.95G>C	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835446	0.32421	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52526	0.69;0.66;0.66;0.66;0.66;0.66	4.86	4.86	0.63082	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.31420	0.0796	N	0.16567	0.415	0.58432	D	0.999993	B	0.21452	0.056	B	0.18871	0.023	T	0.09773	-1.0659	10	0.19147	T	0.46	-6.3903	14.4771	0.67554	0.0:0.0:1.0:0.0	.	32	Q9H156	SLIK2_HUMAN	P	32	ENSP00000334374:R32P;ENSP00000411681:R32P;ENSP00000359521:R32P;ENSP00000397015:R32P;ENSP00000407347:R32P;ENSP00000412010:R32P	ENSP00000334374:R32P	R	+	2	0	SLITRK2	144711730	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.029000	0.88807	1.994000	0.58287	0.529000	0.55759	CGC		PASS	0.473	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		59	56	59	56	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144906362	144906362	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:144906362C>T	ENST00000370490.1	+	1	6674	c.2419C>T	c.(2419-2421)Ccc>Tcc	p.P807S	TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000428560.2_Missense_Mutation_p.P807S|SLITRK2_ENST00000447897.2_Missense_Mutation_p.P807S|SLITRK2_ENST00000413937.2_Missense_Mutation_p.P807S|SLITRK2_ENST00000434188.2_Missense_Mutation_p.P807S			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	807					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.P807S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATATGGAACTCCCAGGAAATG	0.438																																						uc004fcd.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(2419-2421)CCC>TCC		SLIT and NTRK-like family, member 2 precursor							98.0	96.0	96.0					X																	144906362		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906362C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2419C>T	X.37:g.144906362C>T	ENSP00000359521:p.Pro807Ser					SLITRK2_uc010nsp.2_Missense_Mutation_p.P807S|SLITRK2_uc010nso.2_Missense_Mutation_p.P807S|SLITRK2_uc011mwq.1_Missense_Mutation_p.P807S|SLITRK2_uc011mwr.1_Missense_Mutation_p.P807S|SLITRK2_uc011mws.1_Missense_Mutation_p.P807S|SLITRK2_uc004fcg.2_Missense_Mutation_p.P807S|SLITRK2_uc011mwt.1_Missense_Mutation_p.P807S|CXorf1_uc004fch.2_5'Flank	p.P807S	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	3409	+	Acute lymphoblastic leukemia(192;6.56e-05)		807			Cytoplasmic (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2419C>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.065429	0.36470	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.38	5.38	0.77491	.	0.060354	0.64402	D	0.000002	T	0.51873	0.1700	M	0.61703	1.905	0.58432	D	0.999995	P	0.39748	0.686	B	0.38156	0.266	T	0.54403	-0.8299	10	0.39692	T	0.17	-7.4119	15.4932	0.75629	0.0:1.0:0.0:0.0	.	807	Q9H156	SLIK2_HUMAN	S	807	ENSP00000411681:P807S;ENSP00000359521:P807S;ENSP00000397015:P807S;ENSP00000407347:P807S;ENSP00000412010:P807S	ENSP00000359521:P807S	P	+	1	0	SLITRK2	144714054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.567000	0.60850	2.251000	0.74343	0.600000	0.82982	CCC		PASS	0.438	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		34	129	34	129	---	---	---	---
MAGEA3	4102	broad.mit.edu	37	X	151935416	151935416	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:151935416C>A	ENST00000393902.3	-	3	1318	c.751G>T	c.(751-753)Gtg>Ttg	p.V251L	MAGEA3_ENST00000370278.3_Missense_Mutation_p.V251L			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	251	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.V251L(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCCTGCACGAAATGTTGG	0.532																																						uc004fgp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(751-753)GTG>TTG		melanoma antigen family A, 3							131.0	126.0	128.0					X																	151935416		2202	4293	6495	SO:0001583	missense	4102							g.chrX:151935416C>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.751G>T	X.37:g.151935416C>A	ENSP00000377480:p.Val251Leu						p.V251L	NM_005362	NP_005353	P43357	MAGA3_HUMAN			3	960	-	Acute lymphoblastic leukemia(192;6.56e-05)		251			MAGE.		Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.751G>T	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	c	11.08	1.534638	0.27475	.	.	ENSG00000221867	ENST00000370278;ENST00000393902	T;T	0.08370	3.1;3.1	1.42	1.42	0.22433	.	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	H	0.94306	3.52	0.09310	N	1	B	0.24186	0.099	B	0.31191	0.125	T	0.20472	-1.0274	10	0.87932	D	0	.	5.7818	0.18310	0.0:1.0:0.0:0.0	.	251	P43357	MAGA3_HUMAN	L	251	ENSP00000359301:V251L;ENSP00000377480:V251L	ENSP00000359301:V251L	V	-	1	0	MAGEA3	151686072	0.007000	0.16637	0.019000	0.16419	0.019000	0.09904	0.527000	0.22987	1.002000	0.39104	0.358000	0.22013	GTG		PASS	0.532	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		171	128	171	128	---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153069296	153069296	+	Silent	SNP	G	G	T			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:153069296G>T	ENST00000164640.4	-	8	2013	c.1822C>A	c.(1822-1824)Cgg>Agg	p.R608R	PDZD4_ENST00000544474.1_Silent_p.R499R|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000393758.2_Silent_p.R533R	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	608						cytoplasm (GO:0005737)		p.R608R(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCCCACCCGAGGGCCACCG	0.736																																						uc004fiz.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1822-1824)CGG>AGG		PDZ domain containing 4							8.0	10.0	9.0					X																	153069296		2075	3973	6048	SO:0001819	synonymous_variant	57595					cell cortex		g.chrX:153069296G>T	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1822C>A	X.37:g.153069296G>T						PDZD4_uc004fiy.1_Silent_p.R533R|PDZD4_uc004fix.2_Silent_p.R512R|PDZD4_uc004fja.1_Silent_p.R614R|PDZD4_uc011mze.1_Silent_p.R499R	p.R608R	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN			8	2072	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		608					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	ENST00000164640.4	37	c.1822C>A	CCDS14732.1																																																																																				PASS	0.736	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		5	11	5	11	---	---	---	---
AVPR2	554	broad.mit.edu	37	X	153171764	153171764	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:153171764G>C	ENST00000358927.2	+	3	1013	c.804G>C	c.(802-804)aaG>aaC	p.K268N	AVPR2_ENST00000337474.5_Missense_Mutation_p.K268N|AVPR2_ENST00000370049.1_Missense_Mutation_p.K268N			P30518	V2R_HUMAN	arginine vasopressin receptor 2	268					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)	p.K268N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CTGTGGCCAAGACTGTGAGGA	0.677																																						uc004fjh.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(802-804)AAG>AAC		arginine vasopressin receptor 2 isoform 1	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						178.0	133.0	149.0					X																	153171764		2203	4300	6503	SO:0001583	missense	554				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171764G>C	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.804G>C	X.37:g.153171764G>C	ENSP00000351805:p.Lys268Asn					AVPR2_uc004fjg.3_Missense_Mutation_p.K57N|AVPR2_uc004fji.2_Missense_Mutation_p.K268N	p.K268N	NM_000054	NP_000045	P30518	V2R_HUMAN			2	875	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		268			Cytoplasmic (Potential).		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.804G>C	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	g	16.69	3.192708	0.58017	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	3.56	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.102421	0.64402	D	0.000003	T	0.68458	0.3003	M	0.88640	2.97	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76852	-0.2806	10	0.87932	D	0	-21.4882	14.0493	0.64725	0.0:0.0:1.0:0.0	.	268;268	P30518-2;P30518	.;V2R_HUMAN	N	268	ENSP00000351805:K268N;ENSP00000393513:K268N;ENSP00000338072:K268N;ENSP00000359066:K268N	ENSP00000338072:K268N	K	+	3	2	AVPR2	152824958	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	1.943000	0.40253	1.732000	0.51606	0.263000	0.19301	AAG		PASS	0.677	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			31	136	31	136	---	---	---	---
ARHGAP4	393	broad.mit.edu	37	X	153173229	153173229	+	Nonsense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:153173229G>C	ENST00000350060.5	-	22	2836	c.2795C>G	c.(2794-2796)tCa>tGa	p.S932*	ARHGAP4_ENST00000537206.1_Nonsense_Mutation_p.S909*|ARHGAP4_ENST00000370016.1_Nonsense_Mutation_p.S911*|ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000370028.3_Nonsense_Mutation_p.S972*|ARHGAP4_ENST00000393721.1_Nonsense_Mutation_p.S754*	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	932					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.S932*(1)|p.S972*(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGAAGCTGAGGGTGAGGC	0.721																																						uc004fjk.1																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(2794-2796)TCA>TGA		Rho GTPase activating protein 4 isoform 2							12.0	16.0	15.0					X																	153173229		2126	4200	6326	SO:0001587	stop_gained	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153173229G>C	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.2795C>G	X.37:g.153173229G>C	ENSP00000203786:p.Ser932*					ARHGAP4_uc004fjj.1_Nonsense_Mutation_p.S283*|ARHGAP4_uc011mzf.1_Nonsense_Mutation_p.S909*|ARHGAP4_uc004fjl.1_Nonsense_Mutation_p.S972*|ARHGAP4_uc010nup.1_RNA	p.S932*	NM_001666	NP_001657	P98171	RHG04_HUMAN			22	2837	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		932					Q14144|Q86UY3	Nonsense_Mutation	SNP	ENST00000350060.5	37	c.2795C>G	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	g	37	6.403543	0.97537	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206	.	.	.	4.32	1.04	0.20106	.	0.872144	0.09346	N	0.814865	.	.	.	.	.	.	0.36188	D	0.849894	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	3.3337	0.07093	0.117:0.1955:0.5391:0.1484	.	.	.	.	X	754;972;932;911;909	.	ENSP00000203786:S932X	S	-	2	0	ARHGAP4	152826423	0.001000	0.12720	0.001000	0.08648	0.341000	0.28922	0.276000	0.18716	0.108000	0.17862	0.418000	0.28097	TCA		PASS	0.721	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		11	31	11	31	---	---	---	---
ARHGAP4	393	broad.mit.edu	37	X	153173337	153173337	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrX:153173337G>C	ENST00000350060.5	-	22	2728	c.2687C>G	c.(2686-2688)tCt>tGt	p.S896C	ARHGAP4_ENST00000537206.1_Missense_Mutation_p.S873C|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.S875C|ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.S936C|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.S718C	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	896					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.S896C(1)|p.S936C(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGTGGTAGATGCTGGCCC	0.652																																						uc004fjk.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(2686-2688)TCT>TGT		Rho GTPase activating protein 4 isoform 2							50.0	54.0	53.0					X																	153173337		2203	4300	6503	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153173337G>C	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.2687C>G	X.37:g.153173337G>C	ENSP00000203786:p.Ser896Cys					ARHGAP4_uc004fjj.1_Missense_Mutation_p.S247C|ARHGAP4_uc011mzf.1_Missense_Mutation_p.S873C|ARHGAP4_uc004fjl.1_Missense_Mutation_p.S936C|ARHGAP4_uc010nup.1_RNA	p.S896C	NM_001666	NP_001657	P98171	RHG04_HUMAN			22	2729	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		896					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.2687C>G	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	g	12.80	2.047444	0.36085	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206	T;T;T;T;T	0.12039	2.73;2.73;2.73;2.72;2.73	4.01	3.14	0.36123	.	1.074070	0.07411	N	0.892394	T	0.11836	0.0288	N	0.19112	0.55	0.09310	N	1	P;P	0.51791	0.948;0.833	B;B	0.43155	0.41;0.219	T	0.32877	-0.9890	10	0.59425	D	0.04	.	10.2604	0.43423	0.1043:0.0:0.8957:0.0	.	936;896	Q86UY3;P98171	.;RHG04_HUMAN	C	718;936;896;875;873	ENSP00000377322:S718C;ENSP00000359045:S936C;ENSP00000203786:S896C;ENSP00000359033:S875C;ENSP00000444169:S873C	ENSP00000203786:S896C	S	-	2	0	ARHGAP4	152826531	0.005000	0.15991	0.000000	0.03702	0.015000	0.08874	1.381000	0.34362	0.549000	0.28973	0.513000	0.50165	TCT		PASS	0.652	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		45	133	45	133	---	---	---	---
RBMY1A1	5940	broad.mit.edu	37	Y	23702659	23702659	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chrY:23702659T>A	ENST00000382707.2	+	4	541	c.389T>A	c.(388-390)cTg>cAg	p.L130Q	RBMY1A1_ENST00000303902.5_Missense_Mutation_p.L130Q|RBMY1A1_ENST00000439108.2_5'UTR	NM_005058.2	NP_005049.1	P0DJD3	RBY1A_HUMAN	RNA binding motif protein, Y-linked, family 1, member A1	130					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.L130Q(1)		lung(3)	3						GAAGGGCACCTGGGTAATGTT	0.408																																						uc004fuq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(388-390)CTG>CAG		RNA binding motif protein, Y-linked, family 1,							21.0	49.0	43.0					Y																	23702659		494	1719	2213	SO:0001583	missense	5940				mRNA processing|RNA splicing|spermatogenesis	nucleus	nucleotide binding|RNA binding	g.chrY:23702659T>A		CCDS14796.1	Yq11.23	2013-02-12	2003-09-12		ENSG00000234414	ENSG00000234414		"""RNA binding motif (RRM) containing"""	9912	protein-coding gene	gene with protein product		400006	"""RNA binding motif protein, Y chromosome, family 1, member A1"""	RBM1, RBM2		8269511, 9598316	Standard	XM_005262514		Approved	YRRM1, YRRM2		P0DJD3	OTTHUMG00000043592	ENST00000382707.2:c.389T>A	Y.37:g.23702659T>A	ENSP00000372154:p.Leu130Gln					RBMY1A1_uc010nxa.2_Missense_Mutation_p.L130Q|RBMY1A1_uc004fur.3_Intron|RBMY1A1_uc011nbd.1_Missense_Mutation_p.L95Q	p.L130Q	NM_001006120	NP_001006120	Q15414	RBY1A_HUMAN			4	501	+			130					Q15376|Q15377|Q15414|Q6NSB5|Q86VU6|Q8NHR0	Missense_Mutation	SNP	ENST00000382707.2	37	c.389T>A	CCDS14796.1																																																																																				PASS	0.408	RBMY1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101933.2	NM_005058		4	10	4	10	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109793494	109793494	+	Frame_Shift_Del	DEL	C	C	-			TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr13:109793494delC	ENST00000357550.2	+	31	4909	c.4868delC	c.(4867-4869)gccfs	p.A1623fs	MYO16_ENST00000356711.2_Frame_Shift_Del_p.A1623fs	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCAAACTCTGCCCCCGTGGCC	0.716																																						uc001vqt.1																			0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(4867-4869)GCCfs		myosin heavy chain Myr 8							18.0	24.0	22.0					13																	109793494		2201	4298	6499	SO:0001589	frameshift_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109793494delC		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4868delC	13.37:g.109793494delC	ENSP00000350160:p.Ala1623fs					MYO16_uc010agk.1_Frame_Shift_Del_p.A1645fs	p.A1623fs	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		32	4994	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1623			Pro-rich.			Frame_Shift_Del	DEL	ENST00000357550.2	37	c.4868delC	CCDS32008.1																																																																																					0.716	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		29	43	29	43	---	---	---	---
IGHV4-4	28401	broad.mit.edu	37	14	106478307	106478308	+	RNA	INS	-	-	ACC	rs372113325|rs534445404	byFrequency	TCGA-66-2773-01A-01D-1267-08	TCGA-66-2773-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb0b515b-afc4-40c3-abe6-e90c442f0249	bf751309-7731-474c-b806-e2e4e53cb505	g.chr14:106478307_106478308insACC	ENST00000390596.2	-	0	213_214									immunoglobulin heavy variable 4-4																		CTCCAGTAGTAACTACTGATGG	0.609																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.				761,64,5,2638		22,14,0,703,11,0,28,2,1,953						-3.2	0.0			53	801,401,83,4775		56,31,3,655,143,14,70,30,6,2022	no	intergenic				78,45,3,1358,154,14,98,32,7,2975	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		21.2046,23.9331,22.1977				1562,465,88,7413						8755							g.chr14:106478307_106478308insACC	X62112		14q32.33	2012-02-08			ENSG00000211936	ENSG00000276775		"""Immunoglobulins / IGH locus"""	5652	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152322		14.37:g.106478307_106478308insACC														1857		-									RNA	INS	ENST00000390596.2	37	c.35978_35979insGGT																																																																																						0.609	IGHV4-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325884.1	NG_001019		10	8	10	8	---	---	---	---
