#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
DVL1	1855	broad.mit.edu	37	1	1274966	1274966	+	Silent	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:1274966T>C	ENST00000378888.5	-	10	1334	c.1050A>G	c.(1048-1050)ccA>ccG	p.P350P	DVL1_ENST00000378891.5_Silent_p.P350P			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	350					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)	p.P350P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACTCACCCCGTGGGACGGTGA	0.687																																						uc001aer.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1048-1050)CCA>CCG		dishevelled 1							29.0	26.0	27.0					1																	1274966		2199	4297	6496	SO:0001819	synonymous_variant	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1274966T>C	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1050A>G	1.37:g.1274966T>C						DVL1_uc002quu.2_Silent_p.P67P|DVL1_uc009vka.2_Silent_p.P33P|DVL1_uc001aeu.1_Missense_Mutation_p.H37R	p.P350P	NM_004421	NP_004412	O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	10	1097	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	350					Q5TA33|Q5TA35	Silent	SNP	ENST00000378888.5	37	c.1050A>G																																																																																					PASS	0.687	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		7	14	7	14	---	---	---	---
AJAP1	55966	broad.mit.edu	37	1	4772101	4772101	+	Silent	SNP	G	G	A	rs376909909		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:4772101G>A	ENST00000378191.4	+	2	552	c.171G>A	c.(169-171)ccG>ccA	p.P57P	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Silent_p.P57P	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	57					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P57P(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)		cgcggtcgccgccccggccgc	0.731																																						uc001alm.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(169-171)CCG>CCA		adherens junction associated protein 1		G	,	0,4200		0,0,2100	21.0	32.0	28.0		171,171	-0.6	0.0	1		28	1,8273		0,1,4136	no	coding-synonymous,coding-synonymous	AJAP1	NM_001042478.1,NM_018836.3	,	0,1,6236	AA,AG,GG		0.0121,0.0,0.0080	,	57/412,57/412	4772101	1,12473	2100	4137	6237	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772101G>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.171G>A	1.37:g.4772101G>A						AJAP1_uc001aln.2_Silent_p.P57P	p.P57P	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	552	+	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)	57			Extracellular (Potential).		Q9Y229	Silent	SNP	ENST00000378191.4	37	c.171G>A	CCDS54.1																																																																																				PASS	0.731	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		20	30	20	30	---	---	---	---
GPR153	387509	broad.mit.edu	37	1	6311556	6311556	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:6311556G>A	ENST00000377893.2	-	4	1080	c.821C>T	c.(820-822)tCa>tTa	p.S274L		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S274L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCAGGGCGCTGAGGCGTCGGC	0.697																																						uc001amp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(820-822)TCA>TTA		G protein-coupled receptor 153							30.0	29.0	30.0					1																	6311556		2202	4299	6501	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6311556G>A	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.821C>T	1.37:g.6311556G>A	ENSP00000367125:p.Ser274Leu					GPR153_uc001amo.1_5'Flank	p.S274L	NM_207370	NP_997253	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	4	1081	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	274			Extracellular (Potential).		Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.821C>T	CCDS64.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389266	0.82902	.	.	ENSG00000158292	ENST00000377893	T	0.70631	-0.5	5.15	5.15	0.70609	.	0.180872	0.49916	D	0.000126	T	0.60805	0.2297	N	0.24115	0.695	0.44417	D	0.997338	P	0.38223	0.623	B	0.41299	0.353	T	0.65804	-0.6079	10	0.66056	D	0.02	-13.5142	12.6439	0.56723	0.0:0.0:0.8345:0.1655	.	274	Q6NV75	GP153_HUMAN	L	274	ENSP00000367125:S274L	ENSP00000367125:S274L	S	-	2	0	GPR153	6234143	1.000000	0.71417	0.177000	0.23020	0.981000	0.71138	7.800000	0.85949	2.561000	0.86390	0.643000	0.83706	TCA		PASS	0.697	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			22	34	22	34	---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17271961	17271961	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:17271961A>G	ENST00000375541.5	+	15	2065	c.1996A>G	c.(1996-1998)Aga>Gga	p.R666G	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.R666G(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CCACAGCCATAGACAACTAGA	0.642																																						uc001azt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)	5						c.(1996-1998)AGA>GGA		ciliary rootlet coiled-coil							23.0	18.0	20.0					1																	17271961		2172	4229	6401	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17271961A>G	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1996A>G	1.37:g.17271961A>G	ENSP00000364691:p.Arg666Gly					CROCC_uc009voz.1_Missense_Mutation_p.R429G|CROCC_uc001azu.2_Translation_Start_Site	p.R666G	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	15	2065	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	666			Potential.			Missense_Mutation	SNP	ENST00000375541.5	37	c.1996A>G	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.167353	0.38315	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10573	2.86	5.01	-2.71	0.05986	.	.	.	.	.	T	0.15998	0.0385	L	0.39898	1.24	0.09310	N	1	D;P	0.53745	0.962;0.634	P;B	0.51657	0.676;0.234	T	0.20571	-1.0271	9	0.38643	T	0.18	.	17.3793	0.87400	0.3234:0.6766:0.0:0.0	.	529;666	A1L0S8;Q5TZA2	.;CROCC_HUMAN	G	666;547	ENSP00000364691:R666G	ENSP00000364691:R666G	R	+	1	2	CROCC	17144548	0.001000	0.12720	0.001000	0.08648	0.848000	0.48234	0.974000	0.29436	-0.537000	0.06290	0.459000	0.35465	AGA		PASS	0.642	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		7	43	7	43	---	---	---	---
KLHDC7A	127707	broad.mit.edu	37	1	18808885	18808885	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:18808885C>G	ENST00000400664.1	+	1	1462	c.1410C>G	c.(1408-1410)gaC>gaG	p.D470E		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	470						integral component of membrane (GO:0016021)		p.D470E(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCCCGGACATCTACGGGT	0.657																																						uc001bax.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1408-1410)GAC>GAG		kelch domain containing 7A							46.0	48.0	47.0					1																	18808885		2203	4300	6503	SO:0001583	missense	127707					integral to membrane		g.chr1:18808885C>G	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1410C>G	1.37:g.18808885C>G	ENSP00000383505:p.Asp470Glu					KLHDC7A_uc009vpg.2_Missense_Mutation_p.D252E	p.D470E	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1462	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	470					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1410C>G	CCDS185.2	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672845	0.47781	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.72167	-0.63	5.41	3.52	0.40303	.	0.391536	0.26187	N	0.025822	T	0.62405	0.2425	L	0.43152	1.355	0.29957	N	0.819703	P;P	0.39326	0.668;0.668	B;B	0.42188	0.306;0.379	T	0.58967	-0.7542	10	0.26408	T	0.33	.	9.3704	0.38250	0.0:0.7602:0.1594:0.0804	.	407;470	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	E	470;407	ENSP00000383505:D470E	ENSP00000383505:D470E	D	+	3	2	KLHDC7A	18681472	0.001000	0.12720	0.981000	0.43875	0.395000	0.30598	0.657000	0.24963	1.258000	0.44101	-0.311000	0.09066	GAC		PASS	0.657	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		60	98	60	98	---	---	---	---
EPHA8	2046	broad.mit.edu	37	1	22913059	22913059	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:22913059G>A	ENST00000166244.3	+	4	982	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	EPHA8_ENST00000538803.1_Missense_Mutation_p.A304T|EPHA8_ENST00000374644.4_Missense_Mutation_p.A304T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	304	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.A304T(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCTCCAGCCGCCCAAGCCTG	0.657																																						uc001bfx.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(910-912)GCC>ACC		ephrin receptor EphA8 isoform 1 precursor							39.0	39.0	39.0					1																	22913059		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22913059G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.910G>A	1.37:g.22913059G>A	ENSP00000166244:p.Ala304Thr					EPHA8_uc001bfw.2_Missense_Mutation_p.A304T	p.A304T	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	1035	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	304			Extracellular (Potential).|Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.910G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	g	12.65	2.002347	0.35320	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.28454	1.61;4.97;4.97	4.05	2.16	0.27623	.	0.219099	0.37906	N	0.001894	T	0.18676	0.0448	L	0.56340	1.77	0.32302	N	0.564859	P;B	0.41131	0.739;0.27	B;B	0.22880	0.041;0.042	T	0.26326	-1.0106	10	0.44086	T	0.13	.	5.9907	0.19460	0.0911:0.0:0.575:0.3339	.	304;304	P29322;P29322-2	EPHA8_HUMAN;.	T	304	ENSP00000166244:A304T;ENSP00000363775:A304T;ENSP00000440274:A304T	ENSP00000166244:A304T	A	+	1	0	EPHA8	22785646	0.986000	0.35501	0.811000	0.32455	0.679000	0.39708	1.983000	0.40648	0.494000	0.27859	-0.372000	0.07161	GCC		PASS	0.657	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		5	69	5	69	---	---	---	---
RHCE	6006	broad.mit.edu	37	1	25717382	25717382	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:25717382C>A	ENST00000294413.7	-	5	717	c.659G>T	c.(658-660)tGg>tTg	p.W220L	RHCE_ENST00000425135.1_Missense_Mutation_p.W220L|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000413854.1_Missense_Mutation_p.W220L|RHCE_ENST00000243186.6_Missense_Mutation_p.W220L|RHCE_ENST00000374352.2_Missense_Mutation_p.W204L|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000349438.4_Missense_Mutation_p.W220L|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000349320.3_Missense_Mutation_p.W204L	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	220						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)	p.W220L(1)		endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GACACTTGGCCAGAACATCCA	0.537																																						uc001bkf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(658-660)TGG>TTG		Rhesus blood group, CcEe antigens isoform 1							144.0	133.0	137.0					1																	25717382		2203	4300	6503	SO:0001583	missense	6006					integral to plasma membrane		g.chr1:25717382C>A	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.659G>T	1.37:g.25717382C>A	ENSP00000294413:p.Trp220Leu					RHCE_uc001bkg.2_Missense_Mutation_p.W220L|RHCE_uc001bkh.2_Intron|RHCE_uc001bki.2_Intron|RHCE_uc001bkj.2_Missense_Mutation_p.W204L	p.W220L	NM_020485	NP_065231	P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	5	745	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	220			Helical; (Potential).		A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	SNP	ENST00000294413.7	37	c.659G>T	CCDS30635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|c	19.61|19.61	3.859762|3.859762	0.71834|0.71834	.|.	.|.	ENSG00000188672|ENSG00000188672	ENST00000539650|ENST00000413854;ENST00000374352;ENST00000243186;ENST00000425135;ENST00000349320;ENST00000294413;ENST00000447203;ENST00000349438	.|T;T;T;T;T;T;T	.|0.74002	.|-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	4.08|4.08	4.08|4.08	0.47627|0.47627	.|Ammonium transporter AmtB-like (3);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.88815	.|0.6539	H|H	0.94222|0.94222	3.51|3.51	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.992	.|D;D;D	.|0.97110	.|0.999;1.0;0.953	.|D	.|0.91130	.|0.4937	.|10	.|0.87932	.|D	.|0	.|-9.9241	11.9685|11.9685	0.53049|0.53049	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|204;220;220	.|Q5VSJ9;Q5VSJ8;P18577	.|.;.;RHCE_HUMAN	.|L	-1|220;204;220;220;204;220;220;220	.|ENSP00000415417:W220L;ENSP00000363472:W204L;ENSP00000243186:W220L;ENSP00000392809:W220L;ENSP00000311185:W204L;ENSP00000294413:W220L;ENSP00000334570:W220L	.|ENSP00000243186:W220L	.|W	-|-	.|2	.|0	RHCE|RHCE	25589969|25589969	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	5.010000|5.010000	0.64004|0.64004	2.248000|2.248000	0.74166|0.74166	0.591000|0.591000	0.81541|0.81541	.|TGG		PASS	0.537	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485		123	254	123	254	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39818716	39818716	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:39818716A>G	ENST00000372915.3	+	43	11339	c.11252A>G	c.(11251-11253)aAg>aGg	p.K3751R	MACF1_ENST00000289893.4_Missense_Mutation_p.K2186R|MACF1_ENST00000564288.1_Missense_Mutation_p.K3746R|MACF1_ENST00000317713.7_Missense_Mutation_p.K1684R|MACF1_ENST00000545844.1_Missense_Mutation_p.K1684R|MACF1_ENST00000567887.1_Missense_Mutation_p.K3783R|MACF1_ENST00000361689.2_Missense_Mutation_p.K1684R|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.K1684R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3751					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.K1684R(1)|p.K2186R(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACAAGAAGAAGATCGATGCT	0.488																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(6556-6558)AAG>AGG		microfilament and actin filament cross-linker							95.0	82.0	86.0					1																	39818716		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39818716A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11252A>G	1.37:g.39818716A>G	ENSP00000362006:p.Lys3751Arg					MACF1_uc010ois.1_Missense_Mutation_p.K1684R|MACF1_uc001cda.1_Missense_Mutation_p.K1592R|MACF1_uc001cdc.1_Missense_Mutation_p.K771R|MACF1_uc001cdb.1_Missense_Mutation_p.K771R	p.K2186R	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		8	6688	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3751					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6557A>G		.	.	.	.	.	.	.	.	.	.	A	20.9	4.065184	0.76187	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	T;T;T;T;T;D;T	0.89485	-0.13;-0.15;-0.13;-0.16;0.03;-2.52;0.94	5.53	5.53	0.82687	.	0.088844	0.48286	D	0.000187	D	0.93841	0.8030	M	0.75777	2.31	0.80722	D	1	D;B;D;B	0.65815	0.994;0.364;0.995;0.047	D;B;D;B	0.69824	0.966;0.236;0.942;0.039	D	0.94226	0.7472	10	0.59425	D	0.04	.	15.6651	0.77225	1.0:0.0:0.0:0.0	.	3751;1684;1684;1649	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	MACF1_HUMAN;.;.;.	R	1684;3751;1684;1684;1684;1833;2186	ENSP00000439537:K1684R;ENSP00000362006:K3751R;ENSP00000354573:K1684R;ENSP00000313438:K1684R;ENSP00000444364:K1684R;ENSP00000437059:K1833R;ENSP00000289893:K2186R	ENSP00000289893:K2186R	K	+	2	0	MACF1	39591303	1.000000	0.71417	0.992000	0.48379	0.459000	0.32528	6.432000	0.73400	2.095000	0.63458	0.454000	0.30748	AAG		PASS	0.488	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		56	91	56	91	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42041309	42041309	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:42041309C>A	ENST00000372583.1	-	5	5998	c.5113G>T	c.(5113-5115)Gtg>Ttg	p.V1705L	HIVEP3_ENST00000372584.1_Missense_Mutation_p.V1705L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.V1705L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.V1705L|HIVEP3_ENST00000460604.1_5'UTR	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1705					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V1705L(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCCTTCTCCACTCTAGCTAGA	0.552																																						uc001cgz.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(5113-5115)GTG>TTG		human immunodeficiency virus type I enhancer							94.0	95.0	94.0					1																	42041309		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42041309C>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5113G>T	1.37:g.42041309C>A	ENSP00000361664:p.Val1705Leu					HIVEP3_uc001cha.3_Missense_Mutation_p.V1705L|HIVEP3_uc001cgy.2_RNA	p.V1705L	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			5	6326	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1705					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.5113G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797728	0.31777	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	5.12	3.17	0.36434	.	1.140060	0.06588	N	0.751560	T	0.06508	0.0167	L	0.40543	1.245	0.35283	D	0.781474	B;B	0.23249	0.082;0.049	B;B	0.21708	0.036;0.016	T	0.34378	-0.9831	10	0.28530	T	0.3	-0.2638	5.6208	0.17455	0.0:0.6273:0.1711:0.2016	.	1705;1705	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	L	1705	ENSP00000361665:V1705L;ENSP00000361664:V1705L;ENSP00000247584:V1705L;ENSP00000410828:V1705L	ENSP00000247584:V1705L	V	-	1	0	HIVEP3	41813896	0.515000	0.26210	0.997000	0.53966	0.926000	0.56050	0.744000	0.26245	2.677000	0.91161	0.561000	0.74099	GTG		PASS	0.552	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		104	212	104	212	---	---	---	---
MYSM1	114803	broad.mit.edu	37	1	59147875	59147875	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:59147875G>C	ENST00000472487.1	-	8	880	c.841C>G	c.(841-843)Caa>Gaa	p.Q281E	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	281					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q281E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TTTTCATTTTGAAGACAGCCC	0.368																																						uc009wab.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(841-843)CAA>GAA		Myb-like, SWIRM and MPN domains 1							145.0	138.0	140.0					1																	59147875		1831	4079	5910	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59147875G>C	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.841C>G	1.37:g.59147875G>C	ENSP00000418734:p.Gln281Glu					MYSM1_uc001czc.2_RNA	p.Q281E	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN			8	864	-	all_cancers(7;9.36e-06)		281					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.841C>G	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.432592	0.00182	.	.	ENSG00000162601	ENST00000472487	T	0.21031	2.03	4.94	2.97	0.34412	.	0.962311	0.08693	N	0.907603	T	0.12860	0.0312	N	0.17082	0.46	0.09310	N	1	B	0.17038	0.02	B	0.17433	0.018	T	0.19224	-1.0312	10	0.05525	T	0.97	-0.0676	12.9549	0.58421	0.0:0.0:0.6828:0.3172	.	281	Q5VVJ2	MYSM1_HUMAN	E	281	ENSP00000418734:Q281E	ENSP00000418734:Q281E	Q	-	1	0	MYSM1	58920463	0.838000	0.29461	0.117000	0.21633	0.084000	0.17831	2.313000	0.43735	0.699000	0.31761	0.585000	0.79938	CAA		PASS	0.368	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		26	552	26	552	---	---	---	---
ANGPTL3	27329	broad.mit.edu	37	1	63066783	63066783	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:63066783G>T	ENST00000371129.3	+	3	717	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	213					acylglycerol homeostasis (GO:0055090)|artery morphogenesis (GO:0048844)|cell-matrix adhesion (GO:0007160)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|fatty acid metabolic process (GO:0006631)|glycerol metabolic process (GO:0006071)|integrin-mediated signaling pathway (GO:0007229)|lipid homeostasis (GO:0055088)|lipid storage (GO:0019915)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phospholipase activity (GO:0010519)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of lipid catabolic process (GO:0050996)|response to hormone (GO:0009725)|signal transduction (GO:0007165)|triglyceride homeostasis (GO:0070328)	cell surface (GO:0009986)|extracellular space (GO:0005615)	enzyme inhibitor activity (GO:0004857)|growth factor activity (GO:0008083)|integrin binding (GO:0005178)|phospholipase inhibitor activity (GO:0004859)	p.E213*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AGAACCCACAGAAATTTCTCT	0.338																																						uc001das.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(637-639)GAA>TAA		angiopoietin-like 3 precursor							91.0	88.0	89.0					1																	63066783		2203	4298	6501	SO:0001587	stop_gained	27329				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity	g.chr1:63066783G>T	AF152562	CCDS622.1	1p31.3	2013-02-06			ENSG00000132855	ENSG00000132855		"""Fibrinogen C domain containing"""	491	protein-coding gene	gene with protein product	"""angiopoietin 5"""	604774		ANGPT5		10644446	Standard	NM_014495		Approved		uc001das.2	Q9Y5C1	OTTHUMG00000009146	ENST00000371129.3:c.637G>T	1.37:g.63066783G>T	ENSP00000360170:p.Glu213*					DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc001daq.2_Intron|DOCK7_uc009wah.1_Intron	p.E213*	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN			3	688	+			213					A0JLS0|B1ALJ0|B2RCW1	Nonsense_Mutation	SNP	ENST00000371129.3	37	c.637G>T	CCDS622.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453070	0.96223	.	.	ENSG00000132855	ENST00000371129	.	.	.	5.36	5.36	0.76844	.	1.497180	0.04150	N	0.321066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	14.5811	0.68292	0.0:0.0:1.0:0.0	.	.	.	.	X	213	.	ENSP00000360170:E213X	E	+	1	0	ANGPTL3	62839371	1.000000	0.71417	0.996000	0.52242	0.776000	0.43924	3.917000	0.56424	2.496000	0.84212	0.591000	0.81541	GAA		PASS	0.338	ANGPTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025344.1	NM_014495		54	98	54	98	---	---	---	---
SGIP1	84251	broad.mit.edu	37	1	67142743	67142743	+	Nonsense_Mutation	SNP	G	G	T	rs539368139		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:67142743G>T	ENST00000371037.4	+	13	780	c.703G>T	c.(703-705)Gag>Tag	p.E235*	SGIP1_ENST00000371036.3_Nonsense_Mutation_p.E202*|AL139147.1_ENST00000502413.2_5'Flank|SGIP1_ENST00000237247.6_Nonsense_Mutation_p.E239*|SGIP1_ENST00000371039.1_Nonsense_Mutation_p.E203*|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371035.3_Nonsense_Mutation_p.E192*	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	235	Pro-rich.				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.E235*(1)|p.E203*(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						TCCAAGCATGGAGTCGCCAAA	0.398																																						uc001dcr.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(703-705)GAG>TAG		SH3-domain GRB2-like (endophilin) interacting							130.0	129.0	130.0					1																	67142743		2203	4300	6503	SO:0001587	stop_gained	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.chr1:67142743G>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.703G>T	1.37:g.67142743G>T	ENSP00000360076:p.Glu235*					SGIP1_uc010opd.1_Nonsense_Mutation_p.E2*|SGIP1_uc001dcs.2_Nonsense_Mutation_p.E2*|SGIP1_uc001dct.2_Nonsense_Mutation_p.E2*|uc010ope.1_5'Flank|SGIP1_uc009wat.2_Nonsense_Mutation_p.E2*	p.E235*	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			13	920	+			235			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Nonsense_Mutation	SNP	ENST00000371037.4	37	c.703G>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	37	6.142353	0.97320	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	.	.	.	5.35	5.35	0.76521	.	0.067875	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-17.949	19.0677	0.93119	0.0:0.0:1.0:0.0	.	.	.	.	X	239;203;227;192;238;238;202;235	.	ENSP00000237247:E239X	E	+	1	0	SGIP1	66915331	1.000000	0.71417	0.953000	0.39169	0.992000	0.81027	5.748000	0.68697	2.506000	0.84524	0.655000	0.94253	GAG		PASS	0.398	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		107	185	107	185	---	---	---	---
MIER1	57708	broad.mit.edu	37	1	67411870	67411870	+	Silent	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:67411870A>T	ENST00000355356.3	+	3	221	c.72A>T	c.(70-72)ccA>ccT	p.P24P	MIER1_ENST00000357692.2_Silent_p.P41P|MIER1_ENST00000401042.3_Silent_p.P24P|MIER1_ENST00000371016.1_Silent_p.P41P|MIER1_ENST00000371018.3_Silent_p.P41P|MIER1_ENST00000371014.1_Silent_p.P77P|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371012.2_Silent_p.P41P|MIER1_ENST00000401041.1_Silent_p.P77P|MIER1_ENST00000355977.6_Intron	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	24					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.P24P(2)|p.P77P(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						AATTTGATCCATCAGCTGACA	0.348																																						uc001dde.2																			3	Substitution - coding silent(3)	p.P24P(1)	lung(2)|ovary(1)	ovary(1)	1						c.(229-231)CCA>CCT		mesoderm induction early response 1 isoform b							119.0	108.0	111.0					1																	67411870		1854	4092	5946	SO:0001819	synonymous_variant	57708				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr1:67411870A>T		CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.72A>T	1.37:g.67411870A>T						MIER1_uc001dda.3_Missense_Mutation_p.H102L|MIER1_uc010opf.1_Silent_p.P41P|MIER1_uc009way.2_Silent_p.P41P|MIER1_uc001ddc.2_Silent_p.P77P|MIER1_uc001ddh.2_Intron|MIER1_uc001ddf.2_Silent_p.P41P|MIER1_uc001ddg.2_5'UTR|MIER1_uc010opg.1_Silent_p.P41P|MIER1_uc001ddj.1_Silent_p.P24P|MIER1_uc001ddi.2_Silent_p.P24P	p.P77P	NM_001077700	NP_001071168	Q8N108	MIER1_HUMAN			4	365	+			48					C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Silent	SNP	ENST00000355356.3	37	c.231A>T	CCDS41348.1																																																																																				PASS	0.348	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025491.2	NM_020948		116	201	116	201	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70504563	70504563	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:70504563C>A	ENST00000035383.5	+	19	2972	c.2942C>A	c.(2941-2943)cCg>cAg	p.P981Q	LRRC7_ENST00000415775.2_Missense_Mutation_p.P265Q|LRRC7_ENST00000310961.5_Missense_Mutation_p.P986Q	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	981						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.P981Q(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CACGAACGACCGGATAAGATG	0.453																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(2941-2943)CCG>CAG		leucine rich repeat containing 7							71.0	63.0	66.0					1																	70504563		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504563C>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2942C>A	1.37:g.70504563C>A	ENSP00000035383:p.Pro981Gln					LRRC7_uc009wbg.2_Missense_Mutation_p.P265Q|LRRC7_uc001deq.2_Missense_Mutation_p.P222Q	p.P981Q	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	2972	+			981					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.2942C>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	0.399	-0.919336	0.02396	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37058	1.22;1.29;2.38	5.69	4.76	0.60689	.	0.382431	0.27739	N	0.018044	T	0.10551	0.0258	L	0.33485	1.01	0.09310	N	1	B;B;B	0.22346	0.068;0.006;0.004	B;B;B	0.21360	0.034;0.009;0.004	T	0.11299	-1.0593	10	0.54805	T	0.06	.	4.3779	0.11279	0.1628:0.5942:0.1573:0.0857	.	265;981;981	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	Q	986;981;265;804	ENSP00000309245:P986Q;ENSP00000035383:P981Q;ENSP00000394867:P265Q	ENSP00000035383:P981Q	P	+	2	0	LRRC7	70277151	0.012000	0.17670	0.061000	0.19648	0.086000	0.17979	1.512000	0.35812	1.365000	0.46057	0.563000	0.77884	CCG		PASS	0.453	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		45	97	45	97	---	---	---	---
SLC44A5	204962	broad.mit.edu	37	1	75672357	75672357	+	Missense_Mutation	SNP	C	C	G	rs78856933	byFrequency	TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:75672357C>G	ENST00000370855.5	-	24	2208	c.2095G>C	c.(2095-2097)Gta>Cta	p.V699L	SLC44A5_ENST00000535611.1_Missense_Mutation_p.V569L|SLC44A5_ENST00000370859.3_Intron	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	699					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V699L(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TTAGGGGTTACGAAGTAGGGT	0.413																																						uc001dgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2095-2097)GTA>CTA		solute carrier family 44, member 5 isoform A							196.0	187.0	190.0					1																	75672357		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75672357C>G	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.2095G>C	1.37:g.75672357C>G	ENSP00000359892:p.Val699Leu					SLC44A5_uc001dgt.2_Intron|SLC44A5_uc001dgs.2_Intron|SLC44A5_uc001dgr.2_Intron|SLC44A5_uc010oqz.1_Intron|SLC44A5_uc010ora.1_Missense_Mutation_p.V693L|SLC44A5_uc010orb.1_Missense_Mutation_p.V569L	p.V699L	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			24	2239	-			699			Cytoplasmic (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.2095G>C	CCDS667.1	.	.	.	.	.	.	.	.	.	.	C	9.810	1.183002	0.21870	.	.	ENSG00000137968	ENST00000370855;ENST00000535611;ENST00000535790	T;T	0.14022	2.96;2.54	5.33	-1.24	0.09435	.	0.260999	0.48767	N	0.000165	T	0.03915	0.0110	L	0.53249	1.67	0.26306	N	0.977897	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.34129	-0.9841	10	0.62326	D	0.03	-1.3427	6.3083	0.21151	0.0:0.2643:0.1195:0.6162	.	693;699	B7Z5Y4;Q8NCS7	.;CTL5_HUMAN	L	699;569;692	ENSP00000359892:V699L;ENSP00000443090:V569L	ENSP00000359892:V699L	V	-	1	0	SLC44A5	75444945	1.000000	0.71417	0.981000	0.43875	0.192000	0.23643	3.231000	0.51294	-0.518000	0.06452	-1.215000	0.01618	GTA		PASS	0.413	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		164	376	164	376	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77510188	77510188	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:77510188C>A	ENST00000477717.1	+	3	796	c.561C>A	c.(559-561)aaC>aaA	p.N187K		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	187					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.N187K(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGGTCTACAACAACCTGCATC	0.597																																						uc001dhi.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(559-561)AAC>AAA		sialyltransferase 7E							96.0	95.0	95.0					1																	77510188		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77510188C>A		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.561C>A	1.37:g.77510188C>A	ENSP00000417583:p.Asn187Lys					ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	p.N187K	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN			3	736	+			187			Lumenal (Potential).		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.561C>A	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.065975	0.55539	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.27720	1.65	5.46	2.51	0.30379	.	0.041001	0.85682	D	0.000000	T	0.14056	0.0340	L	0.58428	1.81	0.58432	D	0.999997	P	0.42123	0.771	P	0.44422	0.449	T	0.08638	-1.0712	10	0.07482	T	0.82	-22.1291	8.6401	0.33972	0.0:0.6243:0.0:0.3757	.	187	Q9BVH7	SIA7E_HUMAN	K	187;97	ENSP00000417583:N187K	ENSP00000436263:N187K	N	+	3	2	ST6GALNAC5	77282776	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.757000	0.26433	1.260000	0.44134	0.655000	0.94253	AAC		PASS	0.597	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		84	157	84	157	---	---	---	---
AK5	26289	broad.mit.edu	37	1	77763405	77763405	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:77763405G>T	ENST00000354567.2	+	4	840	c.577G>T	c.(577-579)Gcc>Tcc	p.A193S	AK5_ENST00000344720.5_Missense_Mutation_p.A167S|AK5_ENST00000317704.4_3'UTR	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	193	Adenylate kinase 1.|NMPbind 1. {ECO:0000250}.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.A193S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TGGAGAATTGGCCCCACAGGT	0.353																																						uc001dhn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(577-579)GCC>TCC		adenylate kinase 5 isoform 1							86.0	88.0	87.0					1																	77763405		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77763405G>T	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.577G>T	1.37:g.77763405G>T	ENSP00000346577:p.Ala193Ser					AK5_uc001dho.2_Missense_Mutation_p.A167S|AK5_uc001dhm.1_Missense_Mutation_p.A169S	p.A193S	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			4	834	+			193					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.577G>T	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301769	0.81136	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;T	0.76578	-1.03;-1.03;-1.03	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.83275	0.93;0.996	D	0.86066	0.1535	10	0.87932	D	0	-25.8549	19.7874	0.96444	0.0:0.0:1.0:0.0	.	193;169	Q9Y6K8;Q8N291	KAD5_HUMAN;.	S	193;167;167	ENSP00000346577:A193S;ENSP00000341430:A167S;ENSP00000434409:A167S	ENSP00000341430:A167S	A	+	1	0	AK5	77535993	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	9.406000	0.97321	2.770000	0.95276	0.650000	0.86243	GCC		PASS	0.353	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		82	158	82	158	---	---	---	---
NEXN	91624	broad.mit.edu	37	1	78392291	78392291	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:78392291G>T	ENST00000334785.7	+	7	866	c.682G>T	c.(682-684)Gtt>Ttt	p.V228F	NEXN_ENST00000330010.8_Missense_Mutation_p.V164F|NEXN_ENST00000457030.1_Missense_Mutation_p.V214F	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)									p.V228F(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)		TCTTTCATTAGTTATGGTAAA	0.333																																						uc001dic.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(682-684)GTT>TTT		nexilin (F actin binding protein)							115.0	114.0	114.0					1																	78392291		1829	4082	5911	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78392291G>T	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.682G>T	1.37:g.78392291G>T	ENSP00000333938:p.Val228Phe					NEXN_uc001dia.3_Missense_Mutation_p.V214F|NEXN_uc009wcb.1_Missense_Mutation_p.V150F|NEXN_uc001dib.3_Missense_Mutation_p.V164F|NEXN_uc001did.1_Missense_Mutation_p.V138F|NEXN_uc001dif.1_Missense_Mutation_p.V120F	p.V228F	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	7	979	+			228			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.682G>T	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.79|10.79	1.450599|1.450599	0.26074|0.26074	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324|ENST00000342754	T;T;T;T;T|.	0.66815|.	-0.19;0.14;0.08;0.15;-0.23|.	5.6|5.6	4.68|4.68	0.58851|0.58851	.|.	0.147274|.	0.31268|.	N|.	0.007954|.	T|.	0.48390|.	0.1497|.	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.51537|.	0.911;0.946;0.911;0.911|.	P;P;B;P|.	0.49637|.	0.51;0.617;0.413;0.51|.	T|.	0.50389|.	-0.8834|.	10|.	0.59425|.	D|.	0.04|.	-6.165|-6.165	10.0777|10.0777	0.42370|0.42370	0.0691:0.2608:0.6702:0.0|0.0691:0.2608:0.6702:0.0	.|.	164;214;228;164|.	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7|.	.;.;NEXN_HUMAN;.|.	F|Y	164;214;164;228;214|127	ENSP00000383814:V164F;ENSP00000388048:V214F;ENSP00000327363:V164F;ENSP00000333938:V228F;ENSP00000411902:V214F|.	ENSP00000327363:V164F|.	V|X	+|+	1|3	0|2	NEXN|NEXN	78164879|78164879	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.036000|0.036000	0.12997|0.12997	3.131000|3.131000	0.50515|0.50515	1.475000|1.475000	0.48197|0.48197	0.655000|0.655000	0.94253|0.94253	GTT|TAG		PASS	0.333	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		11	221	11	221	---	---	---	---
CTBS	1486	broad.mit.edu	37	1	85028993	85028993	+	Missense_Mutation	SNP	T	T	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:85028993T>G	ENST00000370630.5	-	6	952	c.904A>C	c.(904-906)Att>Ctt	p.I302L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	302					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)	p.I302L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TTTCCAGAAATAGAACTATTT	0.393																																						uc001dka.2																			1	Substitution - Missense(1)		lung(1)		0						c.(904-906)ATT>CTT		chitobiase, di-N-acetyl- precursor							60.0	65.0	63.0					1																	85028993		2203	4299	6502	SO:0001583	missense	1486					lysosome	cation binding	g.chr1:85028993T>G	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.904A>C	1.37:g.85028993T>G	ENSP00000359664:p.Ile302Leu					SPATA1_uc001djz.1_Intron|CTBS_uc001dkc.2_Missense_Mutation_p.I211L|CTBS_uc001dkd.2_Missense_Mutation_p.I96L|CTBS_uc001dkb.2_Missense_Mutation_p.I96L	p.I302L	NM_004388	NP_004379	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	6	969	-			302					Q5VX50	Missense_Mutation	SNP	ENST00000370630.5	37	c.904A>C	CCDS698.1	.	.	.	.	.	.	.	.	.	.	T	7.145	0.582554	0.13749	.	.	ENSG00000117151	ENST00000370630	T	0.04917	3.53	5.5	-4.28	0.03732	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.779040	0.12737	N	0.443385	T	0.00906	0.0030	N	0.16478	0.41	0.09310	N	0.999999	B	0.02656	0.0	B	0.08055	0.003	T	0.44697	-0.9311	10	0.27082	T	0.32	-0.2937	6.1078	0.20084	0.09:0.1666:0.538:0.2055	.	302	Q01459	DIAC_HUMAN	L	302	ENSP00000359664:I302L	ENSP00000359659:I211L	I	-	1	0	CTBS	84801581	0.000000	0.05858	0.180000	0.23079	0.922000	0.55478	-0.430000	0.06973	-1.150000	0.02840	0.528000	0.53228	ATT		PASS	0.393	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		37	59	37	59	---	---	---	---
SLC30A7	148867	broad.mit.edu	37	1	101377756	101377756	+	Missense_Mutation	SNP	T	T	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:101377756T>G	ENST00000370112.4	+	5	660	c.473T>G	c.(472-474)gTt>gGt	p.V158G	SLC30A7_ENST00000357650.4_Missense_Mutation_p.V158G	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	158					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)	p.V158G(1)		endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		GGAATATTTGTTTTCAAACAT	0.388																																					NSCLC(91;473 1491 3102 16827 21633)	uc001dtn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)GTT>GGT		zinc transporter like 2							230.0	216.0	220.0					1																	101377756		2203	4300	6503	SO:0001583	missense	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101377756T>G	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.473T>G	1.37:g.101377756T>G	ENSP00000359130:p.Val158Gly					SLC30A7_uc001dto.2_Missense_Mutation_p.V158G	p.V158G	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	5	660	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	158			Helical; (Potential).		B2R949|D3DT61|Q8TCH2	Missense_Mutation	SNP	ENST00000370112.4	37	c.473T>G	CCDS776.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.829495	0.32329	.	.	ENSG00000162695	ENST00000370112;ENST00000357650	T;T	0.63417	-0.04;-0.04	5.36	2.7	0.31948	.	0.186184	0.46758	D	0.000271	T	0.46073	0.1374	M	0.77486	2.375	0.80722	D	1	B	0.22080	0.064	B	0.30105	0.111	T	0.51834	-0.8655	10	0.48119	T	0.1	-15.4485	6.4977	0.22152	0.1338:0.105:0.0:0.7612	.	158	Q8NEW0	ZNT7_HUMAN	G	158	ENSP00000359130:V158G;ENSP00000350278:V158G	ENSP00000350278:V158G	V	+	2	0	SLC30A7	101150344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.764000	0.55264	0.947000	0.37659	0.496000	0.49642	GTT		PASS	0.388	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496		288	538	288	538	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103345240	103345240	+	Splice_Site	SNP	G	G	T	rs202065765		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:103345240G>T	ENST00000370096.3	-	66	5585	c.5273C>A	c.(5272-5274)gCg>gAg	p.A1758E	COL11A1_ENST00000353414.4_Splice_Site_p.A1719E|COL11A1_ENST00000512756.1_Splice_Site_p.A1642E|COL11A1_ENST00000358392.2_Splice_Site_p.A1770E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1758	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.			A -> T (in Ref. 1; AAA51891). {ECO:0000305}.	cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.A1770V(1)|p.A1758E(1)|p.A1770E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TATACTCACCGCACAACCATC	0.428																																						uc001dul.2																			3	Substitution - Missense(3)	p.A1770V(1)	lung(2)|pancreas(1)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(5272-5274)GCG>GAG		alpha 1 type XI collagen isoform A							123.0	114.0	117.0					1																	103345240		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103345240G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5274+1C>A	1.37:g.103345240G>T						COL11A1_uc001duk.2_Missense_Mutation_p.A954E|COL11A1_uc001dum.2_Missense_Mutation_p.A1770E|COL11A1_uc001dun.2_Missense_Mutation_p.A1719E|COL11A1_uc009weh.2_Missense_Mutation_p.A1642E	p.A1758E	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	66	5591	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1758	A -> T (in Ref. 1; AAA51891).		Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.5273C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209261	0.79240	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.52	5.52	0.82312	Fibrillar collagen, C-terminal (4);	0.108710	0.64402	D	0.000006	T	0.67088	0.2856	M	0.79475	2.455	0.80722	D	1	B;B;B;B;B	0.22080	0.031;0.052;0.052;0.064;0.003	B;B;B;B;B	0.27608	0.04;0.049;0.049;0.081;0.011	T	0.65005	-0.6273	10	0.41790	T	0.15	.	19.7856	0.96434	0.0:0.0:1.0:0.0	.	1642;1719;1770;1758;978	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	E	1758;1770;1719;978;1642	ENSP00000359114:A1758E;ENSP00000351163:A1770E;ENSP00000302551:A1719E;ENSP00000426533:A1642E	ENSP00000302551:A1719E	A	-	2	0	COL11A1	103117828	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.683000	0.61679	2.747000	0.94245	0.591000	0.81541	GCG		PASS	0.428	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Missense_Mutation	66	128	66	128	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103481252	103481252	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:103481252C>A	ENST00000370096.3	-	12	1772	c.1460G>T	c.(1459-1461)gGt>gTt	p.G487V	COL11A1_ENST00000353414.4_Missense_Mutation_p.G448V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G371V|COL11A1_ENST00000358392.2_Missense_Mutation_p.G499V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	487	Collagen-like 1.|Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G499V(1)|p.G487V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCAGGAGGACCAGGTAGACC	0.358																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1459-1461)GGT>GTT		alpha 1 type XI collagen isoform A							40.0	39.0	39.0					1																	103481252		2203	4298	6501	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103481252C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1460G>T	1.37:g.103481252C>A	ENSP00000359114:p.Gly487Val					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G499V|COL11A1_uc001dun.2_Missense_Mutation_p.G448V|COL11A1_uc009weh.2_Missense_Mutation_p.G371V	p.G487V	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	12	1778	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	487			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1460G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970678	0.74246	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.99846	0.9929	H	0.97829	4.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.96649	0.9480	10	0.87932	D	0	.	18.675	0.91525	0.0:1.0:0.0:0.0	.	371;448;499;487	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	V	487;499;448;371;499	ENSP00000359114:G487V;ENSP00000351163:G499V;ENSP00000302551:G448V;ENSP00000426533:G371V;ENSP00000408640:G499V	ENSP00000302551:G448V	G	-	2	0	COL11A1	103253840	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.376000	0.79658	2.510000	0.84645	0.585000	0.79938	GGT		PASS	0.358	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		7	17	7	17	---	---	---	---
TMEM167B	56900	broad.mit.edu	37	1	109637043	109637043	+	Silent	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:109637043T>C	ENST00000338272.8	+	3	1217	c.147T>C	c.(145-147)gcT>gcC	p.A49A		NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B	49						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A49A(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						TGCTAGCCGCTGTGATTGGAA	0.453																																						uc001dwn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)GCT>GCC		transmembrane protein 167B precursor							214.0	178.0	190.0					1																	109637043		2203	4300	6503	SO:0001819	synonymous_variant	56900					Golgi membrane|integral to membrane		g.chr1:109637043T>C		CCDS30789.1	1p13.3	2008-06-06	2008-06-06	2008-06-06	ENSG00000215717	ENSG00000215717			30187	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 119"""	C1orf119		12477932	Standard	NM_020141		Approved	AD-020, FLJ90710	uc001dwn.3	Q9NRX6	OTTHUMG00000042364	ENST00000338272.8:c.147T>C	1.37:g.109637043T>C						TMEM167B_uc009weu.2_RNA	p.A49A	NM_020141	NP_064526	Q9NRX6	KISHB_HUMAN			3	239	+			49			Extracellular (Potential).		B2RUU9	Silent	SNP	ENST00000338272.8	37	c.147T>C	CCDS30789.1																																																																																				PASS	0.453	TMEM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100611.2	NM_020141		10	270	10	270	---	---	---	---
CD101	9398	broad.mit.edu	37	1	117561007	117561007	+	Silent	SNP	G	G	T	rs79996128	byFrequency	TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:117561007G>T	ENST00000256652.4	+	6	1900	c.1842G>T	c.(1840-1842)acG>acT	p.T614T	CD101_ENST00000369470.1_Silent_p.T614T	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	614	Ig-like C2-type 5.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.T614T(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAAAGAAGACGAAAGTGTCGC	0.453																																						uc010oxb.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1840-1842)ACG>ACT		immunoglobulin superfamily, member 2 precursor							122.0	114.0	116.0					1																	117561007		2203	4300	6503	SO:0001819	synonymous_variant	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117561007G>T	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1842G>T	1.37:g.117561007G>T						CD101_uc009whd.2_Silent_p.T614T|CD101_uc010oxc.1_Silent_p.T614T|CD101_uc010oxd.1_Silent_p.T552T	p.T614T	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			6	1900	+			614			Extracellular (Potential).|Ig-like C2-type 5.		Q15856	Silent	SNP	ENST00000256652.4	37	c.1842G>T	CCDS891.1																																																																																				PASS	0.453	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		4	401	4	401	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144917580	144917580	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:144917580C>G	ENST00000369354.3	-	12	1713	c.1524G>C	c.(1522-1524)caG>caC	p.Q508H	PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q508H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q645H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q508H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q508H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q574H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q295H|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q671H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.Q671H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q645H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	508					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.Q508H(2)|p.Q671H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAAGACGAAGCTGGCGCAGTT	0.438			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		3	Substitution - Missense(3)		lung(3)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(1522-1524)CAG>CAC		phosphodiesterase 4D interacting protein isoform							247.0	240.0	242.0					1																	144917580		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144917580C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1524G>C	1.37:g.144917580C>G	ENSP00000358360:p.Gln508His					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q574H|PDE4DIP_uc001emc.1_Missense_Mutation_p.Q508H|PDE4DIP_uc001emd.1_Missense_Mutation_p.Q508H|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q671H|PDE4DIP_uc001eme.1_Missense_Mutation_p.Q37H|PDE4DIP_uc001emf.1_Missense_Mutation_p.Q295H	p.Q508H	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	12	1815	-			508			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.1524G>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808360	0.50421	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.13657	4.55;4.63;4.63;4.65;4.64;3.68;3.69;2.63;2.63;2.57	6.04	0.277	0.15668	.	.	.	.	.	T	0.16300	0.0392	L	0.48362	1.52	0.80722	D	1	B;B;P;B;D;D	0.76494	0.086;0.209;0.731;0.103;0.999;0.978	B;B;P;B;D;P	0.81914	0.064;0.165;0.549;0.059;0.995;0.867	T	0.01753	-1.1281	9	0.45353	T	0.12	.	13.0303	0.58839	0.0:0.8098:0.0:0.1902	.	671;295;508;671;574;508	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	H	574;508;508;671;645;645;508;508;671;671;295	ENSP00000327209:Q574H;ENSP00000358360:Q508H;ENSP00000358363:Q508H;ENSP00000435654:Q645H;ENSP00000358366:Q645H;ENSP00000358357:Q508H;ENSP00000358355:Q508H;ENSP00000316434:Q671H;ENSP00000433392:Q671H;ENSP00000436791:Q295H	ENSP00000327209:Q574H	Q	-	3	2	PDE4DIP	143628937	0.711000	0.27906	0.720000	0.30636	0.846000	0.48090	-0.182000	0.09726	0.136000	0.18733	0.650000	0.86243	CAG		PASS	0.438	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		185	723	185	723	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534931	145534931	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:145534931G>A	ENST00000369304.3	+	15	2009	c.1834G>A	c.(1834-1836)Ggc>Agc	p.G612S	ITGA10_ENST00000539363.1_Missense_Mutation_p.G469S|ITGA10_ENST00000538811.1_Missense_Mutation_p.G481S	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	612					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.G612S(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGCTACTTTGGCCGAAGTGT	0.582																																						uc001eoa.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(1834-1836)GGC>AGC		integrin, alpha 10 precursor							178.0	148.0	158.0					1																	145534931		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534931G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1834G>A	1.37:g.145534931G>A	ENSP00000358310:p.Gly612Ser					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.G481S|ITGA10_uc009wiw.2_Missense_Mutation_p.G469S|ITGA10_uc010oyw.1_Missense_Mutation_p.G557S	p.G612S	NM_003637	NP_003628	O75578	ITA10_HUMAN			15	1910	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		612			Extracellular (Potential).|FG-GAP 7.		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1834G>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416580	0.96092	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.64085	-0.08;-0.08;-0.08	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.86669	0.5988	H	0.99347	4.525	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.986;0.993;0.999;1.0	D	0.92057	0.5653	10	0.87932	D	0	.	16.0064	0.80363	0.0:0.0:1.0:0.0	.	578;481;469;612	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	S	612;578;469;481	ENSP00000358310:G612S;ENSP00000439894:G469S;ENSP00000440011:G481S	ENSP00000358310:G612S	G	+	1	0	ITGA10	144246288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.791000	0.91849	2.461000	0.83175	0.609000	0.83330	GGC		PASS	0.582	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		93	195	93	195	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152191689	152191689	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:152191689G>A	ENST00000368801.2	-	3	2491	c.2416C>T	c.(2416-2418)Cat>Tat	p.H806Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	806					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.H806Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCATAATGGCCACAGCTG	0.582																																						uc001ezt.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2416-2418)CAT>TAT		hornerin							66.0	71.0	69.0					1																	152191689		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191689G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2416C>T	1.37:g.152191689G>A	ENSP00000357791:p.His806Tyr						p.H806Y	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2492	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		806			8.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2416C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	5.561	0.288280	0.10513	.	.	ENSG00000197915	ENST00000368801	T	0.03801	3.8	2.55	2.55	0.30701	.	.	.	.	.	T	0.00845	0.0028	L	0.34521	1.04	0.09310	N	1	P	0.39094	0.659	B	0.29598	0.104	T	0.32079	-0.9920	9	0.02654	T	1	.	8.6662	0.34123	0.0:0.0:1.0:0.0	.	806	Q86YZ3	HORN_HUMAN	Y	806	ENSP00000357791:H806Y	ENSP00000357791:H806Y	H	-	1	0	HRNR	150458313	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.199000	0.17237	1.425000	0.47237	0.456000	0.33151	CAT		PASS	0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		29	75	29	75	---	---	---	---
CD1B	910	broad.mit.edu	37	1	158300604	158300604	+	Missense_Mutation	SNP	C	C	G	rs62642468	byFrequency	TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:158300604C>G	ENST00000368168.3	-	2	417	c.310G>C	c.(310-312)Ggt>Cgt	p.G104R		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	104					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.G104R(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGGAAATCACCGGCAAAGTCT	0.433																																						uc001frx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(310-312)GGT>CGT		CD1B antigen precursor							200.0	204.0	203.0					1																	158300604		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158300604C>G	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.310G>C	1.37:g.158300604C>G	ENSP00000357150:p.Gly104Arg					CD1B_uc001frw.2_5'UTR|CD1B_uc010pic.1_Missense_Mutation_p.G104R	p.G104R	NM_001764	NP_001755	P29016	CD1B_HUMAN			2	418	-	all_hematologic(112;0.0378)		104			Extracellular (Potential).		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.310G>C	CCDS1176.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.855|5.855	0.341970|0.341970	0.11069|0.11069	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000368168|ENST00000451207	T|.	0.06768|.	3.26|.	4.28|4.28	-2.75|-2.75	0.05914|0.05914	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	1.698200|.	0.03019|.	N|.	0.150528|.	T|T	0.03095|0.03095	0.0091|0.0091	N|N	0.02315|0.02315	-0.6|-0.6	0.09310|0.09310	N|N	1|1	B;B|.	0.24092|.	0.097;0.004|.	B;B|.	0.28849|.	0.095;0.002|.	T|T	0.41538|0.41538	-0.9503|-0.9503	10|5	0.21540|.	T|.	0.41|.	3.0697|3.0697	6.2873|6.2873	0.21041|0.21041	0.0:0.208:0.533:0.259|0.0:0.208:0.533:0.259	.|.	104;104|.	B4E0D2;P29016|.	.;CD1B_HUMAN|.	R|P	104|71	ENSP00000357150:G104R|.	ENSP00000357150:G104R|.	G|R	-|-	1|2	0|0	CD1B|CD1B	156567228|156567228	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.386000|-0.386000	0.07370|0.07370	-0.623000|-0.623000	0.05618|0.05618	-0.302000|-0.302000	0.09304|0.09304	GGT|CGG		PASS	0.433	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		9	777	9	777	---	---	---	---
RGS5	8490	broad.mit.edu	37	1	163117134	163117134	+	Nonstop_Mutation	SNP	A	A	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:163117134A>G	ENST00000313961.5	-	5	821	c.544T>C	c.(544-546)Tag>Cag	p.*182Q	RGS5_ENST00000367903.3_Nonstop_Mutation_p.*202Q|RGS5_ENST00000527988.1_Nonstop_Mutation_p.*74Q|RGS5_ENST00000530507.1_Nonstop_Mutation_p.*186Q	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	0					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.*182Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CTAAATTACTACTTGATTAAC	0.428																																						uc001gcn.2																			1	Nonstop extension(1)		lung(1)		0						c.(544-546)TAG>CAG		regulator of G-protein signalling 5							80.0	74.0	76.0					1																	163117134		2203	4300	6503	SO:0001578	stop_lost	8490				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:163117134A>G	AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.544T>C	1.37:g.163117134A>G	ENSP00000319308:p.*182Gluext*1					RGS5_uc009wvb.2_RNA	p.*182Q	NM_003617	NP_003608	O15539	RGS5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.187)		5	791	-			182					E9PMP5|Q53XA9|Q599J0	Nonstop_Mutation	SNP	ENST00000313961.5	37	c.544T>C	CCDS1244.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.849084	0.51270	.	.	ENSG00000143248	ENST00000313961;ENST00000367903;ENST00000530507;ENST00000527988	.	.	.	5.01	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0659	0.42303	0.8303:0.1697:0.0:0.0	.	.	.	.	Q	182;202;186;74	.	.	X	-	1	0	RGS5	161383758	1.000000	0.71417	0.918000	0.36340	0.596000	0.36781	5.728000	0.68531	0.730000	0.32425	0.533000	0.62120	TAG		PASS	0.428	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083264.1	NM_003617		68	100	68	100	---	---	---	---
RXRG	6258	broad.mit.edu	37	1	165386447	165386447	+	Nonsense_Mutation	SNP	G	G	T	rs201204388		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:165386447G>T	ENST00000359842.5	-	4	755	c.453C>A	c.(451-453)taC>taA	p.Y151*	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	151					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.Y151*(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)	TGTATACCCCGTAGTGCTTTC	0.428																																						uc001gda.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(451-453)TAC>TAA		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						137.0	131.0	133.0					1																	165386447		2203	4300	6503	SO:0001587	stop_gained	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.chr1:165386447G>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.453C>A	1.37:g.165386447G>T	ENSP00000352900:p.Tyr151*						p.Y151*	NM_006917	NP_008848	P48443	RXRG_HUMAN			4	753	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		151			NR C4-type.|Nuclear receptor.		A6NIP1|Q6IBU7	Nonsense_Mutation	SNP	ENST00000359842.5	37	c.453C>A	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231056	0.95207	.	.	ENSG00000143171	ENST00000359842	.	.	.	4.96	-6.72	0.01755	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2972	0.87173	0.7815:0.0:0.2185:0.0	.	.	.	.	X	151	.	ENSP00000352900:Y151X	Y	-	3	2	RXRG	163653071	0.000000	0.05858	0.372000	0.25991	0.814000	0.46013	-1.943000	0.01539	-1.815000	0.01222	-1.814000	0.00607	TAC		PASS	0.428	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		151	214	151	214	---	---	---	---
GPA33	10223	broad.mit.edu	37	1	167038337	167038337	+	Silent	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:167038337G>A	ENST00000367868.3	-	3	580	c.237C>T	c.(235-237)taC>taT	p.Y79Y	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	79	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.Y79Y(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CACCATGGATGTAGTTTTTGT	0.507																																						uc001gea.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(235-237)TAC>TAT		transmembrane glycoprotein A33 precursor							115.0	106.0	109.0					1																	167038337		2203	4300	6503	SO:0001819	synonymous_variant	10223					integral to plasma membrane	receptor activity	g.chr1:167038337G>A	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.237C>T	1.37:g.167038337G>A							p.Y79Y	NM_005814	NP_005805	Q99795	GPA33_HUMAN			3	581	-			79			Ig-like V-type.|Extracellular (Potential).		Q5VZP6	Silent	SNP	ENST00000367868.3	37	c.237C>T	CCDS1258.1																																																																																				PASS	0.507	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		41	96	41	96	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175324640	175324640	+	Splice_Site	SNP	T	T	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:175324640T>G	ENST00000367674.2	-	17	3956	c.3248A>C	c.(3247-3249)aAg>aCg	p.K1083T	TNR_ENST00000263525.2_Splice_Site_p.K1083T			Q92752	TENR_HUMAN	tenascin R	1083	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.K1083T(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAATCTCACCTTGCGGCTTCC	0.502																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3247-3249)AAG>ACG		tenascin R precursor							84.0	83.0	84.0					1																	175324640		2203	4300	6503	SO:0001630	splice_region_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175324640T>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3249+1A>C	1.37:g.175324640T>G						TNR_uc009wwu.1_Missense_Mutation_p.K1083T	p.K1083T	NM_003285	NP_003276	Q92752	TENR_HUMAN			15	3329	-	Renal(580;0.146)		1083			Fibronectin type-III 9.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3248A>C	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.874079	0.72180	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.53423	0.62;0.62	5.07	5.07	0.68467	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69169	0.3081	M	0.78285	2.405	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.73691	-0.3903	10	0.66056	D	0.02	.	14.7993	0.69900	0.0:0.0:0.0:1.0	.	1083	Q92752	TENR_HUMAN	T	1083;1083;993	ENSP00000356646:K1083T;ENSP00000263525:K1083T	ENSP00000263525:K1083T	K	-	2	0	TNR	173591263	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	7.544000	0.82117	2.019000	0.59389	0.454000	0.30748	AAG		PASS	0.502	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	Missense_Mutation	74	131	74	131	---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182846038	182846038	+	Splice_Site	SNP	A	A	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:182846038A>G	ENST00000367549.3	+	19	2308	c.2198A>G	c.(2197-2199)aAg>aGg	p.K733R		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	733	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)	p.K733R(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GACTCCTGCAAGTAAGTTACT	0.348																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2197-2199)AAG>AGG		DEAH (Asp-Glu-Ala-His) box polypeptide 9							67.0	60.0	62.0					1																	182846038		1841	4100	5941	SO:0001630	splice_region_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182846038A>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2198+1A>G	1.37:g.182846038A>G						DHX9_uc001gps.2_Missense_Mutation_p.K519R|DHX9_uc001gpt.2_5'Flank	p.K733R	NM_001357	NP_001348	Q08211	DHX9_HUMAN			19	2361	+			733			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.2198A>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.862664	0.91511	.	.	ENSG00000135829	ENST00000367549	T	0.02552	4.25	5.91	5.91	0.95273	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.07954	0.0199	L	0.28504	0.86	0.80722	D	1	D	0.60575	0.988	D	0.63877	0.919	T	0.50423	-0.8830	10	0.31617	T	0.26	.	16.3469	0.83138	1.0:0.0:0.0:0.0	.	733	Q08211	DHX9_HUMAN	R	733	ENSP00000356520:K733R	ENSP00000356520:K733R	K	+	2	0	DHX9	181112661	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.855000	0.75445	2.263000	0.75096	0.528000	0.53228	AAG		PASS	0.348	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588	Missense_Mutation	44	83	44	83	---	---	---	---
CDC73	79577	broad.mit.edu	37	1	193172942	193172942	+	Silent	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:193172942G>T	ENST00000367435.3	+	11	1174	c.990G>T	c.(988-990)cgG>cgT	p.R330R		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	330	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.R330L(1)|p.R330R(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CATCTGCCCGGAAGACTCAGA	0.343																																						uc001gtb.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						c.(988-990)CGG>CGT		parafibromin							67.0	74.0	71.0					1																	193172942		2203	4300	6503	SO:0001819	synonymous_variant	79577	Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome			cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193172942G>T	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.990G>T	1.37:g.193172942G>T							p.R330R	NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN			11	1233	+			330					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Silent	SNP	ENST00000367435.3	37	c.990G>T	CCDS1382.1																																																																																				PASS	0.343	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		23	111	23	111	---	---	---	---
CFHR3	10878	broad.mit.edu	37	1	196748446	196748446	+	Silent	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:196748446T>C	ENST00000367425.4	+	2	305	c.213T>C	c.(211-213)caT>caC	p.H71H	CFHR3_ENST00000391985.3_Silent_p.H71H|CFHR3_ENST00000471440.2_Silent_p.H71H	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	71	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.		H -> Y (in dbSNP:rs17575274).			blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.H71H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						ATTACATTCATTGCACACAAA	0.383																																						uc001gtl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(211-213)CAT>CAC		complement factor H-related 3 precursor							86.0	99.0	95.0					1																	196748446		1912	4139	6051	SO:0001819	synonymous_variant	10878					extracellular space		g.chr1:196748446T>C	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.213T>C	1.37:g.196748446T>C						CFHR3_uc001gtk.2_Silent_p.H71H|CFHR3_uc010poy.1_Silent_p.H71H|CFHR1_uc001gtm.2_Silent_p.H34H	p.H71H	NM_021023	NP_066303	Q02985	FHR3_HUMAN			2	300	+			71			Sushi 1.		B4DPR0|Q9UJ16	Silent	SNP	ENST00000367425.4	37	c.213T>C	CCDS30958.1																																																																																				PASS	0.383	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		116	164	116	164	---	---	---	---
LAMB3	3914	broad.mit.edu	37	1	209791299	209791299	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:209791299G>T	ENST00000356082.4	-	20	3138	c.3004C>A	c.(3004-3006)Caa>Aaa	p.Q1002K	LAMB3_ENST00000391911.1_Missense_Mutation_p.Q1002K|LAMB3_ENST00000367030.3_Missense_Mutation_p.Q1002K	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1002	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.Q1002K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTGGTGCCTTGCATGGTGTCC	0.587																																						uc001hhg.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(3004-3006)CAA>AAA		laminin, beta 3 precursor							96.0	86.0	89.0					1																	209791299		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209791299G>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3004C>A	1.37:g.209791299G>T	ENSP00000348384:p.Gln1002Lys					LAMB3_uc009xco.2_Missense_Mutation_p.Q1002K|LAMB3_uc001hhh.2_Missense_Mutation_p.Q1002K	p.Q1002K	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	19	3394	-			1002			Domain I.|Potential.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.3004C>A	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995723	0.35226	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.21361	2.01;2.01;2.01;2.38	4.47	2.34	0.29019	.	0.578463	0.17659	N	0.166406	T	0.13329	0.0323	N	0.24115	0.695	0.21355	N	0.999714	B	0.12630	0.006	B	0.06405	0.002	T	0.23013	-1.0200	10	0.22109	T	0.4	.	11.9743	0.53083	0.0:0.0:0.5743:0.4257	.	1002	Q13751	LAMB3_HUMAN	K	1002;1002;1002;71	ENSP00000375778:Q1002K;ENSP00000348384:Q1002K;ENSP00000355997:Q1002K;ENSP00000398683:Q71K	ENSP00000348384:Q1002K	Q	-	1	0	LAMB3	207857922	0.988000	0.35896	0.969000	0.41365	0.995000	0.86356	1.924000	0.40065	0.960000	0.38005	0.456000	0.33151	CAA		PASS	0.587	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		39	68	39	68	---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214171384	214171384	+	Silent	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:214171384C>T	ENST00000366958.4	+	2	2114	c.1506C>T	c.(1504-1506)ggC>ggT	p.G502G	PROX1_ENST00000435016.1_Silent_p.G502G|PROX1_ENST00000498508.2_Silent_p.G502G|PROX1_ENST00000261454.4_Silent_p.G502G	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	502					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.G502G(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTCCCTCCGGCTCCTTCTCTG	0.562																																						uc001hkh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1504-1506)GGC>GGT		prospero homeobox 1							75.0	83.0	80.0					1																	214171384		2203	4300	6503	SO:0001819	synonymous_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171384C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1506C>T	1.37:g.214171384C>T						PROX1_uc001hkg.1_Silent_p.G502G	p.G502G	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1778	+			502					A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	c.1506C>T	CCDS31021.1																																																																																				PASS	0.562	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		16	325	16	325	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216074145	216074145	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:216074145C>A	ENST00000307340.3	-	39	7789	c.7403G>T	c.(7402-7404)aGa>aTa	p.R2468I	USH2A_ENST00000366943.2_Missense_Mutation_p.R2468I|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2468	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R2468I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGTTGGTATCTGGGAGAGCC	0.502										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(7402-7404)AGA>ATA		usherin isoform B							107.0	105.0	106.0					1																	216074145		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216074145C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7403G>T	1.37:g.216074145C>A	ENSP00000305941:p.Arg2468Ile	HNSCC(13;0.011)					p.R2468I	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	39	7790	-			2468			Extracellular (Potential).|Fibronectin type-III 11.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7403G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842288	0.71488	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.58210	0.35;0.35	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.135863	0.33401	N	0.004949	T	0.46833	0.1413	L	0.50333	1.59	0.49687	D	0.999812	P	0.38677	0.642	B	0.37451	0.25	T	0.33497	-0.9866	10	0.22706	T	0.39	.	13.7134	0.62682	0.0:0.9301:0.0:0.0699	.	2468	O75445	USH2A_HUMAN	I	2468	ENSP00000305941:R2468I;ENSP00000355910:R2468I	ENSP00000305941:R2468I	R	-	2	0	USH2A	214140768	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.555000	0.45854	2.861000	0.98227	0.655000	0.94253	AGA		PASS	0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		96	170	96	170	---	---	---	---
SLC35F3	148641	broad.mit.edu	37	1	234445022	234445022	+	Silent	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:234445022T>C	ENST00000366617.3	+	3	805	c.577T>C	c.(577-579)Ttg>Ctg	p.L193L	MIR4671_ENST00000583284.1_RNA|SLC35F3_ENST00000366618.3_Silent_p.L262L			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	193					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.L262L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTTTGTGTTCTTGCTCTCATG	0.428																																						uc001hwa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(577-579)TTG>CTG		solute carrier family 35, member F3							119.0	107.0	111.0					1																	234445022		2203	4300	6503	SO:0001819	synonymous_variant	148641				transport	integral to membrane		g.chr1:234445022T>C		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.577T>C	1.37:g.234445022T>C						SLC35F3_uc001hvy.1_Silent_p.L262L	p.L193L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		3	805	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	193			Helical; (Potential).		Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366617.3	37	c.577T>C																																																																																					PASS	0.428	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		75	139	75	139	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237961380	237961380	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:237961380G>T	ENST00000366574.2	+	97	14317	c.14000G>T	c.(13999-14001)aGt>aTt	p.S4667I	RYR2_ENST00000542537.1_Missense_Mutation_p.S4651I|RYR2_ENST00000360064.6_Missense_Mutation_p.S4673I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4667					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.S4665I(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)			GACAGAATCAGTGAATTACTT	0.413																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13999-14001)AGT>ATT		cardiac muscle ryanodine receptor							98.0	100.0	99.0					1																	237961380		1898	4114	6012	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.chr1:237961380G>T	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.14000G>T	1.37:g.237961380G>T	ENSP00000355533:p.Ser4667Ile					RYR2_uc010pyb.1_Missense_Mutation_p.S100I	p.S4667I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		97	14120	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4667					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14000G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884001	0.51908	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.91792	-2.91;-2.91;-2.91	5.72	4.8	0.61643	.	0.000000	0.64402	U	0.000001	D	0.90219	0.6942	M	0.62723	1.935	0.45806	D	0.99868	B;P	0.40476	0.142;0.718	B;B	0.36885	0.136;0.235	D	0.90501	0.4474	10	0.72032	D	0.01	.	15.0776	0.72087	0.0:0.2688:0.7312:0.0	.	100;4667	F5H3C7;Q92736	.;RYR2_HUMAN	I	4667;4673;4651;100	ENSP00000355533:S4667I;ENSP00000353174:S4673I;ENSP00000443798:S4651I	ENSP00000353174:S4673I	S	+	2	0	RYR2	236028003	1.000000	0.71417	0.851000	0.33527	0.677000	0.39632	3.103000	0.50298	1.401000	0.46761	0.650000	0.86243	AGT		PASS	0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	34	15	34	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875538	247875538	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:247875538T>C	ENST00000302084.2	-	1	567	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I174V(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGTGGTTGATGGCACGGGGG	0.587																																						uc001idj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(520-522)ATC>GTC		olfactory receptor, family 6, subfamily F,							88.0	93.0	91.0					1																	247875538		2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875538T>C	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.520A>G	1.37:g.247875538T>C	ENSP00000305640:p.Ile174Val						p.I174V	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	520	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		174			Extracellular (Potential).		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.520A>G	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	T	10.88	1.475689	0.26511	.	.	ENSG00000169214	ENST00000302084	T	0.00179	8.61	3.99	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000432	T	0.00384	0.0012	L	0.61036	1.89	0.23802	N	0.996802	D	0.63880	0.993	D	0.76071	0.987	T	0.48445	-0.9035	10	0.54805	T	0.06	-48.7237	5.4409	0.16509	0.0:0.0968:0.179:0.7242	.	174	Q8NGZ6	OR6F1_HUMAN	V	174	ENSP00000305640:I174V	ENSP00000305640:I174V	I	-	1	0	OR6F1	245942161	0.021000	0.18746	0.607000	0.28956	0.233000	0.25261	0.499000	0.22546	0.664000	0.31047	0.482000	0.46254	ATC		PASS	0.587	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		100	198	100	198	---	---	---	---
OR2AK2	391191	broad.mit.edu	37	1	248129609	248129609	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:248129609T>A	ENST00000366480.3	+	1	1075	c.976T>A	c.(976-978)Tgt>Agt	p.C326S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	326						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C326S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTGGATATGCTGTAGAAAATA	0.378																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(976-978)TGT>AGT		olfactory receptor, family 2, subfamily AK,							93.0	92.0	92.0					1																	248129609		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129609T>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.976T>A	1.37:g.248129609T>A	ENSP00000355436:p.Cys326Ser					OR2L13_uc001ids.2_Intron	p.C326S	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	976	+	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)		326			Cytoplasmic (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.976T>A	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	0.666	-0.803679	0.02841	.	.	ENSG00000187080	ENST00000366480	T	0.35421	1.31	1.58	0.378	0.16204	.	.	.	.	.	T	0.18882	0.0453	N	0.20685	0.6	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29852	-0.9998	9	0.17369	T	0.5	.	5.5072	0.16860	0.0:0.1837:0.0:0.8163	.	326	Q8NG84	O2AK2_HUMAN	S	326	ENSP00000355436:C326S	ENSP00000355436:C326S	C	+	1	0	OR2AK2	246196232	0.331000	0.24713	0.000000	0.03702	0.000000	0.00434	1.607000	0.36836	-0.333000	0.08476	-1.777000	0.00654	TGT		PASS	0.378	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		83	194	83	194	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525364	248525364	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:248525364C>A	ENST00000366475.1	+	1	482	c.482C>A	c.(481-483)cCt>cAt	p.P161H		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P161H(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			ATCTGCCATCCTCTCCGTTAC	0.527																																						uc001ieh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(481-483)CCT>CAT		olfactory receptor, family 2, subfamily T,							254.0	224.0	234.0					1																	248525364		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525364C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.482C>A	1.37:g.248525364C>A	ENSP00000355431:p.Pro161His						p.P161H	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	482	+	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)		161			Cytoplasmic (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.482C>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991481	0.54041	.	.	ENSG00000196944	ENST00000366475	T	0.01918	4.56	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000280	T	0.18593	0.0446	H	0.95004	3.61	0.47183	D	0.999349	D	0.89917	1.0	D	0.83275	0.996	T	0.23368	-1.0190	10	0.87932	D	0	.	14.6139	0.68534	0.0:1.0:0.0:0.0	.	161	Q8NH00	OR2T4_HUMAN	H	161	ENSP00000355431:P161H	ENSP00000355431:P161H	P	+	2	0	OR2T4	246591987	1.000000	0.71417	0.244000	0.24202	0.409000	0.31022	6.375000	0.73137	1.469000	0.48083	0.485000	0.47835	CCT		PASS	0.527	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		7	561	7	561	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1680797	1680797	+	Silent	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:1680797G>A	ENST00000252804.4	-	8	800	c.750C>T	c.(748-750)tcC>tcT	p.S250S	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	250	Ig-like C2-type 1.				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.S250S(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)		CCTGGGGCTCGGAGGTGATCC	0.517																																						uc002qxa.2																			2	Substitution - coding silent(2)	p.S250S(1)	ovary(1)|lung(1)	pancreas(6)|ovary(2)	8						c.(748-750)TCC>TCT		peroxidasin precursor							48.0	54.0	52.0					2																	1680797		1944	4137	6081	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.chr2:1680797G>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.750C>T	2.37:g.1680797G>A						PXDN_uc002qxb.1_Silent_p.S250S|PXDN_uc002qxc.1_Silent_p.S67S	p.S250S	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)	8	814	-	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)	250			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.750C>T	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.409|8.409	0.843693|0.843693	0.16963|0.16963	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000447941	.|.	.|.	.|.	4.77|4.77	-8.27|-8.27	0.01017|0.01017	.|.	.|.	.|.	.|.	.|.	T|.	0.35068|.	0.0919|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42120|.	-0.9470|.	4|.	.|.	.|.	.|.	-7.7603|-7.7603	2.5215|2.5215	0.04681|0.04681	0.1025:0.188:0.3619:0.3476|0.1025:0.188:0.3619:0.3476	.|.	.|.	.|.	.|.	L|X	246|174	.|.	.|.	P|R	-|-	2|1	0|2	PXDN|PXDN	1659804|1659804	0.000000|0.000000	0.05858|0.05858	0.664000|0.664000	0.29753|0.29753	0.754000|0.754000	0.42855|0.42855	-1.750000|-1.750000	0.01822|0.01822	-1.314000|-1.314000	0.02300|0.02300	0.449000|0.449000	0.29647|0.29647	CCG|CGA		PASS	0.517	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		23	33	23	33	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1812863	1812863	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:1812863G>C	ENST00000399161.2	-	22	3904	c.3157C>G	c.(3157-3159)Cag>Gag	p.Q1053E	MYT1L_ENST00000428368.2_Missense_Mutation_p.Q1051E|MYT1L_ENST00000407844.1_Missense_Mutation_p.Q49E	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1053					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q1053E(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTGGCCCGCTGTTTGATGGTC	0.612																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(3157-3159)CAG>GAG		myelin transcription factor 1-like							104.0	111.0	109.0					2																	1812863		2142	4253	6395	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1812863G>C	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3157C>G	2.37:g.1812863G>C	ENSP00000382114:p.Gln1053Glu					MYT1L_uc002qxd.2_Missense_Mutation_p.Q1051E|MYT1L_uc010ewk.2_Missense_Mutation_p.Q49E	p.Q1053E	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	22	3984	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1053					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.3157C>G		.	.	.	.	.	.	.	.	.	.	G	10.89	1.479616	0.26511	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T;T	0.44482	0.92;1.57;0.92	5.24	5.24	0.73138	.	0.116551	0.64402	D	0.000013	T	0.44244	0.1284	L	0.47716	1.5	0.80722	D	1	B;P;P	0.46859	0.11;0.817;0.885	B;B;P	0.44946	0.056;0.275;0.465	T	0.26155	-1.0111	10	0.31617	T	0.26	-20.3223	18.8228	0.92105	0.0:0.0:1.0:0.0	.	49;1053;1051	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	E	1053;999;49;107;1051	ENSP00000382114:Q1053E;ENSP00000382111:Q107E;ENSP00000396103:Q1051E	ENSP00000295067:Q999E	Q	-	1	0	MYT1L	1791870	1.000000	0.71417	0.983000	0.44433	0.930000	0.56654	9.612000	0.98347	2.439000	0.82584	0.655000	0.94253	CAG		PASS	0.612	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		86	141	86	141	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1915841	1915841	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:1915841C>A	ENST00000399161.2	-	12	2407	c.1660G>T	c.(1660-1662)Ggc>Tgc	p.G554C	MYT1L_ENST00000428368.2_Missense_Mutation_p.G552C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	554					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G554C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCCGTGCAGCCCGGAGTGGGG	0.602																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(1660-1662)GGC>TGC		myelin transcription factor 1-like							46.0	49.0	48.0					2																	1915841		2047	4223	6270	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1915841C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1660G>T	2.37:g.1915841C>A	ENSP00000382114:p.Gly554Cys					MYT1L_uc002qxd.2_Missense_Mutation_p.G552C|MYT1L_uc010ewl.1_RNA	p.G554C	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	12	2487	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	554			C2HC-type 3.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.1660G>T		.	.	.	.	.	.	.	.	.	.	C	32	5.116990	0.94385	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.65549	-0.14;-0.16	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.84183	0.5416	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	D	0.87664	0.2536	10	0.87932	D	0	-43.6162	19.1783	0.93612	0.0:1.0:0.0:0.0	.	554;552	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	C	554;500;552	ENSP00000382114:G554C;ENSP00000396103:G552C	ENSP00000295067:G500C	G	-	1	0	MYT1L	1894848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.677000	0.84024	2.595000	0.87683	0.561000	0.74099	GGC		PASS	0.602	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		16	22	16	22	---	---	---	---
CMPK2	129607	broad.mit.edu	37	2	6991813	6991813	+	Splice_Site	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:6991813A>T	ENST00000256722.5	-	4	993	c.994T>A	c.(994-996)Tac>Aac	p.Y332N	CMPK2_ENST00000404168.1_Splice_Site_p.Y332N|CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Intron	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	332					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.Y332N(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGTGCCAGTACCTGAGAAGG	0.552																																						uc002qyo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(994-996)TAC>AAC		UMP-CMP kinase 2 precursor							48.0	52.0	51.0					2																	6991813		2016	4188	6204	SO:0001630	splice_region_variant	129607				dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	g.chr2:6991813A>T		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.993-1T>A	2.37:g.6991813A>T						CMPK2_uc002qyn.1_RNA|CMPK2_uc010yis.1_Intron|CMPK2_uc010ewv.2_Missense_Mutation_p.Y332N	p.Y332N	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN			4	1103	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		332					A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Missense_Mutation	SNP	ENST00000256722.5	37	c.994T>A	CCDS42648.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133206	0.77662	.	.	ENSG00000134326	ENST00000256722;ENST00000404168	T;T	0.55052	0.54;0.54	5.23	5.23	0.72850	.	0.123550	0.56097	D	0.000028	T	0.76659	0.4018	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.82104	-0.0622	10	0.87932	D	0	-20.2701	15.4105	0.74914	1.0:0.0:0.0:0.0	.	332	Q5EBM0	CMPK2_HUMAN	N	332	ENSP00000256722:Y332N;ENSP00000384915:Y332N	ENSP00000256722:Y332N	Y	-	1	0	CMPK2	6909264	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	9.069000	0.93967	2.099000	0.63709	0.459000	0.35465	TAC		PASS	0.552	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315	Missense_Mutation	32	76	32	76	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8871992	8871992	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:8871992C>A	ENST00000256707.3	-	30	4355	c.4174G>T	c.(4174-4176)Gct>Tct	p.A1392S	KIDINS220_ENST00000427284.1_Missense_Mutation_p.A1373S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.A1293S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A1373S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1392					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.A1392S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GACATCTGAGCAATGTATTCT	0.458																																						uc002qzc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(4174-4176)GCT>TCT		kinase D-interacting substrate of 220 kDa							112.0	110.0	110.0					2																	8871992		1849	4098	5947	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8871992C>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4174G>T	2.37:g.8871992C>A	ENSP00000256707:p.Ala1392Ser					KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.A1293S|KIDINS220_uc002qzb.2_Missense_Mutation_p.A246S	p.A1392S	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			30	4356	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1392			Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.4174G>T	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297285	0.40694	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.71817	-0.6;-0.6;-0.57;-0.6	5.86	5.86	0.93980	.	0.156942	0.56097	D	0.000027	T	0.54464	0.1860	N	0.12182	0.205	0.36306	D	0.857335	B;B;B	0.33528	0.173;0.184;0.416	B;B;B	0.35931	0.117;0.054;0.214	T	0.59968	-0.7354	10	0.22109	T	0.4	.	14.9736	0.71251	0.1426:0.8574:0.0:0.0	.	1293;1392;246	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	S	1392;1373;1293;1373	ENSP00000256707:A1392S;ENSP00000411849:A1373S;ENSP00000414923:A1293S;ENSP00000418974:A1373S	ENSP00000256707:A1392S	A	-	1	0	KIDINS220	8789443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.625000	0.46452	2.781000	0.95711	0.650000	0.86243	GCT		PASS	0.458	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		145	321	145	321	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11733133	11733133	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:11733133C>G	ENST00000381486.2	+	11	1877	c.1577C>G	c.(1576-1578)gCc>gGc	p.A526G	GREB1_ENST00000234142.5_Missense_Mutation_p.A526G	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	526						integral component of membrane (GO:0016021)		p.A526G(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TACTCCCTGGCCGAGGGCCTC	0.672																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1576-1578)GCC>GGC		growth regulation by estrogen in breast cancer 1							24.0	25.0	25.0					2																	11733133		2109	4212	6321	SO:0001583	missense	9687					integral to membrane		g.chr2:11733133C>G		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1577C>G	2.37:g.11733133C>G	ENSP00000370896:p.Ala526Gly					GREB1_uc002rbo.1_Missense_Mutation_p.A160G	p.A526G	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	11	1877	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		526					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.1577C>G	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993208	0.54041	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.52983	2.95;2.95;0.64	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	T	0.43700	0.1259	L	0.45581	1.43	0.58432	D	0.999999	B;B	0.32693	0.38;0.001	B;B	0.30316	0.114;0.004	T	0.43163	-0.9408	10	0.45353	T	0.12	-19.8681	17.9242	0.88977	0.0:1.0:0.0:0.0	.	160;526	C9JIG0;Q4ZG55	.;GREB1_HUMAN	G	526;526;160	ENSP00000370896:A526G;ENSP00000234142:A526G;ENSP00000403886:A160G	ENSP00000234142:A526G	A	+	2	0	GREB1	11650584	0.993000	0.37304	1.000000	0.80357	0.978000	0.69477	3.039000	0.49791	2.211000	0.71520	0.591000	0.81541	GCC		PASS	0.672	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		5	16	5	16	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26699110	26699110	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:26699110G>T	ENST00000272371.2	-	23	2878	c.2752C>A	c.(2752-2754)Ctc>Atc	p.L918I	OTOF_ENST00000339598.3_Missense_Mutation_p.L171I|OTOF_ENST00000402415.3_Missense_Mutation_p.L228I|OTOF_ENST00000403946.3_Missense_Mutation_p.L918I|OTOF_ENST00000338581.6_Missense_Mutation_p.L171I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	918					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.L228I(1)|p.L918I(1)|p.L171I(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTTGCTGAGGCCCAGCCAC	0.682																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(2752-2754)CTC>ATC		otoferlin isoform a							47.0	44.0	45.0					2																	26699110		2200	4298	6498	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26699110G>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2752C>A	2.37:g.26699110G>T	ENSP00000272371:p.Leu918Ile					OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.L171I|OTOF_uc002rhi.2_Missense_Mutation_p.L228I|OTOF_uc002rhj.2_Missense_Mutation_p.L171I	p.L918I	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			23	2879	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		918			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.2752C>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466421	0.63625	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.41	5.41	0.78517	Ferlin B-domain (1);	0.056069	0.64402	D	0.000001	D	0.88171	0.6365	M	0.78285	2.405	0.48185	D	0.999604	D;P;P;B	0.76494	0.999;0.679;0.944;0.307	D;P;P;B	0.87578	0.998;0.535;0.753;0.316	D	0.87736	0.2582	10	0.44086	T	0.13	-30.6817	17.7511	0.88434	0.0:0.0:1.0:0.0	.	918;171;228;171	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	I	171;171;228;918;918	ENSP00000345137:L171I;ENSP00000344521:L171I;ENSP00000383906:L228I;ENSP00000272371:L918I;ENSP00000385255:L918I	ENSP00000272371:L918I	L	-	1	0	OTOF	26552614	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.653000	0.83643	2.546000	0.85860	0.561000	0.74099	CTC		PASS	0.682	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			28	55	28	55	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28828788	28828788	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:28828788G>C	ENST00000327757.5	+	42	3074	c.3030G>C	c.(3028-3030)caG>caC	p.Q1010H	PLB1_ENST00000422425.2_Missense_Mutation_p.Q999H|PLB1_ENST00000541605.1_Intron	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1010	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.Q1010H(1)|p.Q999H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCCACTCCCAGCTGGCCAGAG	0.517																																						uc002rmb.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(3028-3030)CAG>CAC		phospholipase B1 precursor							150.0	150.0	150.0					2																	28828788		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28828788G>C		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3030G>C	2.37:g.28828788G>C	ENSP00000330442:p.Gln1010His					PLB1_uc010ezj.1_Missense_Mutation_p.Q999H|PLB1_uc002rme.1_Intron|PLB1_uc002rmf.1_RNA	p.Q1010H	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			42	3030	+	Acute lymphoblastic leukemia(172;0.155)		1010			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.3030G>C	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.10|16.10	3.028260|3.028260	0.54790|0.54790	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425|ENST00000404858	T;T|.	0.46819|.	0.86;0.86|.	5.34|5.34	3.53|3.53	0.40419|0.40419	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);|.	0.119152|.	0.38111|.	N|.	0.001805|.	T|T	0.55878|0.55878	0.1948|0.1948	L|L	0.46670|0.46670	1.46|1.46	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.76071|.	0.986;0.987|.	T|T	0.51624|0.51624	-0.8682|-0.8682	10|5	0.15499|.	T|.	0.54|.	-15.8576|-15.8576	9.0094|9.0094	0.36131|0.36131	0.1787:0.0:0.8213:0.0|0.1787:0.0:0.8213:0.0	.|.	999;1010|.	Q6P1J6-3;Q6P1J6|.	.;PLB1_HUMAN|.	H|T	1010;999|998	ENSP00000330442:Q1010H;ENSP00000416440:Q999H|.	ENSP00000330442:Q1010H|.	Q|S	+|+	3|2	2|0	PLB1|PLB1	28682292|28682292	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	1.352000|1.352000	0.34033|0.34033	1.247000|1.247000	0.43917|0.43917	0.561000|0.561000	0.74099|0.74099	CAG|AGC		PASS	0.517	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			217	383	217	383	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29294247	29294247	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:29294247G>T	ENST00000331664.5	-	1	2880	c.2881C>A	c.(2881-2883)Cac>Aac	p.H961N		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	961					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.H961N(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCGGAGTGGTGCCAGGCGATG	0.647																																						uc002rmt.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2881-2883)CAC>AAC		hypothetical protein LOC388939							33.0	38.0	36.0					2																	29294247		1997	4185	6182	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29294247G>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2881C>A	2.37:g.29294247G>T	ENSP00000332809:p.His961Asn						p.H961N	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	2881	-			961						Missense_Mutation	SNP	ENST00000331664.5	37	c.2881C>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479092	0.26511	.	.	ENSG00000179270	ENST00000331664	T	0.20200	2.09	5.61	5.61	0.85477	.	0.488083	0.22191	N	0.063372	T	0.26955	0.0660	L	0.53249	1.67	0.24457	N	0.994453	P	0.41848	0.763	B	0.41619	0.361	T	0.14254	-1.0479	10	0.24483	T	0.36	-4.1892	19.6398	0.95753	0.0:0.0:1.0:0.0	.	961	A6NGG8	CB071_HUMAN	N	961	ENSP00000332809:H961N	ENSP00000332809:H961N	H	-	1	0	C2orf71	29147751	1.000000	0.71417	0.980000	0.43619	0.306000	0.27790	2.992000	0.49417	2.641000	0.89580	0.591000	0.81541	CAC		PASS	0.647	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		4	83	4	83	---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48063100	48063100	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:48063100T>C	ENST00000403359.3	-	5	700	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	FBXO11_ENST00000402508.1_Missense_Mutation_p.M126V|FBXO11_ENST00000316377.4_Missense_Mutation_p.M126V|FBXO11_ENST00000480038.1_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	210					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)|p.M126V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGATGCATCATAGGGCGAGTA	0.333			"""Mis, F, D"""		DLBCL																																	uc010fbl.2				Rec	yes		2	2p16.3	80204		F-box protein 11			L					3	Whole gene deletion(2)|Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(2)|lung(1)	ovary(1)|lung(1)	2						c.(376-378)ATG>GTG		F-box only protein 11 isoform 1							47.0	50.0	49.0					2																	48063100		2203	4300	6503	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48063100T>C	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.628A>G	2.37:g.48063100T>C	ENSP00000384823:p.Met210Val					FBXO11_uc002rwe.2_Missense_Mutation_p.M126V|FBXO11_uc002rwf.2_Missense_Mutation_p.M126V|FBXO11_uc002rwg.1_Missense_Mutation_p.M126V	p.M126V	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		5	490	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	210					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.376A>G	CCDS54357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.10|16.10	3.028038|3.028038	0.54790|0.54790	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000424163|ENST00000493962	T;T;T;T|.	0.52295|.	2.05;2.05;2.05;0.67|.	5.17|5.17	5.17|5.17	0.71159|0.71159	F-box domain, Skp2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57666|0.57666	0.2069|0.2069	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	B|.	0.24317|.	0.101|.	B|.	0.04013|.	0.001|.	T|T	0.54682|0.54682	-0.8257|-0.8257	10|5	0.56958|.	D|.	0.05|.	-10.5808|-10.5808	15.0192|15.0192	0.71617|0.71617	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	210|.	Q86XK2|.	FBX11_HUMAN|.	V|C	126;210;126;126|1	ENSP00000385398:M126V;ENSP00000384823:M210V;ENSP00000323822:M126V;ENSP00000392272:M126V|.	ENSP00000323822:M126V|.	M|Y	-|-	1|2	0|0	FBXO11|FBXO11	47916604|47916604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	8.040000|8.040000	0.89188|0.89188	1.944000|1.944000	0.56390|0.56390	0.383000|0.383000	0.25322|0.25322	ATG|TAT		PASS	0.333	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		43	69	43	69	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61607309	61607309	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:61607309T>A	ENST00000398571.2	-	7	1085	c.1009A>T	c.(1009-1011)Ata>Tta	p.I337L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	337					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.I337L(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)			CTTACTGTTATCTGACTCAAT	0.338																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(1009-1011)ATA>TTA		ubiquitin specific protease 34							71.0	65.0	67.0					2																	61607309		1867	4097	5964	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.chr2:61607309T>A	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.1009A>T	2.37:g.61607309T>A	ENSP00000381577:p.Ile337Leu						p.I337L	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		7	1031	-			337					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.1009A>T	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.895344	0.72639	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.14640	2.49	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	L	0.38175	1.15	0.51233	D	0.99991	P	0.35745	0.518	P	0.47827	0.558	T	0.01858	-1.1259	10	0.62326	D	0.03	.	14.4774	0.67557	0.0:0.0:0.0:1.0	.	337	Q70CQ2	UBP34_HUMAN	L	185;185;337	ENSP00000381577:I337L	ENSP00000263989:I185L	I	-	1	0	USP34	61460813	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.088000	0.71371	2.161000	0.67846	0.533000	0.62120	ATA		PASS	0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			37	61	37	61	---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63264694	63264694	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:63264694C>A	ENST00000263991.5	+	22	3823	c.3341C>A	c.(3340-3342)gCt>gAt	p.A1114D	EHBP1_ENST00000405289.1_Missense_Mutation_p.A1079D|EHBP1_ENST00000354487.3_Missense_Mutation_p.A1079D|EHBP1_ENST00000431489.1_Missense_Mutation_p.A1043D|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.A1043D	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1114						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.A1114D(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAGAAGAAGCTATGATGCAG	0.323																																						uc002sby.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(3340-3342)GCT>GAT		EH domain binding protein 1 isoform 1							147.0	151.0	149.0					2																	63264694		2203	4300	6503	SO:0001583	missense	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63264694C>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.3341C>A	2.37:g.63264694C>A	ENSP00000263991:p.Ala1114Asp					EHBP1_uc010fcp.2_Missense_Mutation_p.A1043D|EHBP1_uc002sbz.2_Missense_Mutation_p.A1043D|EHBP1_uc002scb.2_Missense_Mutation_p.A1079D	p.A1114D	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		22	3823	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		1114					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.3341C>A	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069188	0.55539	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289;ENST00000545092	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.35	5.35	0.76521	Domain of unknown function DUF3585 (1);	0.062950	0.64402	D	0.000012	T	0.42720	0.1215	N	0.17474	0.49	0.37368	D	0.911498	D;P;D	0.76494	0.982;0.919;0.999	P;P;D	0.72338	0.715;0.587;0.977	T	0.29397	-1.0013	10	0.09590	T	0.72	.	12.4185	0.55508	0.0:0.923:0.0:0.077	.	1079;1043;1114	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	D	1043;1043;1114;1079;1079;85	ENSP00000384143:A1043D;ENSP00000403783:A1043D;ENSP00000263991:A1114D;ENSP00000346482:A1079D;ENSP00000385524:A1079D	ENSP00000263991:A1114D	A	+	2	0	EHBP1	63118198	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	4.495000	0.60353	2.489000	0.83994	0.650000	0.86243	GCT		PASS	0.323	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		5	103	5	103	---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69049996	69049996	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:69049996G>C	ENST00000295381.3	+	10	2141	c.1722G>C	c.(1720-1722)caG>caC	p.Q574H	ARHGAP25_ENST00000467265.1_Missense_Mutation_p.Q535H|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.Q568H|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.Q268H|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.Q567H|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.Q575H	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	574					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Q575H(1)|p.Q568H(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ATGAGGAACAGATTAAAAAGT	0.428																																						uc002seu.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)	4						c.(1720-1722)CAG>CAC		Rho GTPase activating protein 25 isoform a							46.0	50.0	49.0					2																	69049996		2200	4297	6497	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69049996G>C	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1722G>C	2.37:g.69049996G>C	ENSP00000295381:p.Gln574His					ARHGAP25_uc010fdg.2_Missense_Mutation_p.Q575H|ARHGAP25_uc010yql.1_Missense_Mutation_p.Q535H|ARHGAP25_uc002sew.2_Missense_Mutation_p.Q567H|ARHGAP25_uc002sex.2_Missense_Mutation_p.Q568H|ARHGAP25_uc002sey.2_Missense_Mutation_p.Q301H	p.Q574H	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			10	2086	+			574			Potential.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1722G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.81|14.81	2.647771|2.647771	0.47258|0.47258	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000543533;ENST00000479844|ENST00000497259	T;T;T;T;T;T|.	0.49139|.	0.79;0.79;0.79;0.98;0.98;0.98|.	5.42|5.42	3.39|3.39	0.38822|0.38822	.|.	0.654660|.	0.16087|.	N|.	0.230238|.	T|T	0.53948|0.53948	0.1828|0.1828	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	P;P;P;P;B|.	0.49783|.	0.855;0.928;0.928;0.928;0.221|.	B;P;P;P;B|.	0.50440|.	0.359;0.641;0.641;0.641;0.103|.	T|T	0.48592|0.48592	-0.9022|-0.9022	10|5	0.13108|.	T|.	0.6|.	.|.	9.9901|9.9901	0.41865|0.41865	0.2393:0.0:0.7607:0.0|0.2393:0.0:0.7607:0.0	.|.	535;575;568;567;574|.	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331|.	.;.;.;.;RHG25_HUMAN|.	H|T	574;575;535;567;568;568;559;268|434	ENSP00000295381:Q574H;ENSP00000386911:Q575H;ENSP00000420583:Q535H;ENSP00000386863:Q567H;ENSP00000386241:Q568H;ENSP00000417467:Q268H|.	ENSP00000295381:Q574H|.	Q|R	+|+	3|2	2|0	ARHGAP25|ARHGAP25	68903500|68903500	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.838000|0.838000	0.27572|0.27572	1.260000|1.260000	0.44134|0.44134	0.557000|0.557000	0.71058|0.71058	CAG|AGA		PASS	0.428	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		4	196	4	196	---	---	---	---
CLEC4F	165530	broad.mit.edu	37	2	71043874	71043874	+	Missense_Mutation	SNP	G	G	T	rs371728170		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:71043874G>T	ENST00000272367.2	-	4	715	c.639C>A	c.(637-639)caC>caA	p.H213Q	CLEC4F_ENST00000426626.1_Missense_Mutation_p.H213Q	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	213					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.H213Q(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGCTTAGCACGTGGAGCTCAA	0.428																																					Colon(107;10 2157 6841 26035)	uc002shf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(637-639)CAC>CAA		C-type lectin, superfamily member 13							90.0	88.0	88.0					2																	71043874		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043874G>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.639C>A	2.37:g.71043874G>T	ENSP00000272367:p.His213Gln					CLEC4F_uc010yqv.1_Missense_Mutation_p.H213Q	p.H213Q	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			4	716	-			213			Extracellular (Potential).		A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.639C>A	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	G	0.421	-0.908121	0.02434	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.01685	4.76;4.69	3.51	-2.39	0.06602	.	0.673556	0.13013	N	0.420661	T	0.01387	0.0045	N	0.16790	0.44	0.09310	N	1	P;D	0.56035	0.929;0.974	B;P	0.47673	0.415;0.554	T	0.49194	-0.8965	10	0.30078	T	0.28	.	4.1621	0.10289	0.3371:0.3278:0.3351:0.0	.	213;213	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	Q	213	ENSP00000272367:H213Q;ENSP00000390581:H213Q	ENSP00000272367:H213Q	H	-	3	2	CLEC4F	70897382	0.000000	0.05858	0.000000	0.03702	0.149000	0.21700	-0.953000	0.03877	-0.512000	0.06505	0.313000	0.20887	CAC		PASS	0.428	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		69	107	69	107	---	---	---	---
LOXL3	84695	broad.mit.edu	37	2	74763510	74763510	+	Missense_Mutation	SNP	C	C	T	rs138480120		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:74763510C>T	ENST00000264094.3	-	6	1072	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	LOXL3_ENST00000409549.1_Missense_Mutation_p.R334H|LOXL3_ENST00000409249.1_Missense_Mutation_p.R334H|LOXL3_ENST00000393937.2_Missense_Mutation_p.R189H|LOXL3_ENST00000409986.1_Missense_Mutation_p.R189H	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	334	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.R334H(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GTCCCACTTGCGGTCACAGAC	0.647																																						uc002smp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1000-1002)CGC>CAC		lysyl oxidase-like 3 precursor		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	67.0	68.0		1001	3.9	1.0	2	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	missense	LOXL3	NM_032603.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	334/754	74763510	2,13004	2203	4300	6503	SO:0001583	missense	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74763510C>T	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1001G>A	2.37:g.74763510C>T	ENSP00000264094:p.Arg334His					LOXL3_uc002smo.1_5'UTR|LOXL3_uc010ffm.1_Missense_Mutation_p.R334H|LOXL3_uc002smq.1_Missense_Mutation_p.R189H|LOXL3_uc010ffn.1_Missense_Mutation_p.R189H	p.R334H	NM_032603	NP_115992	P58215	LOXL3_HUMAN			6	1073	-			334			SRCR 3.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	ENST00000264094.3	37	c.1001G>A	CCDS1953.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959454	0.34565	2.27E-4	1.16E-4	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	4.76	3.87	0.44632	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.119294	0.53938	D	0.000044	T	0.11707	0.0285	N	0.02802	-0.49	0.39058	D	0.960467	B;B;B;B	0.14012	0.009;0.005;0.001;0.009	B;B;B;B	0.13407	0.009;0.009;0.004;0.008	T	0.10109	-1.0644	10	0.35671	T	0.21	.	6.5037	0.22184	0.0:0.8091:0.0:0.1909	.	189;334;189;334	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	H	334;334;189;334;189	ENSP00000264094:R334H;ENSP00000387103:R334H;ENSP00000377512:R189H;ENSP00000386696:R334H;ENSP00000386545:R189H	ENSP00000264094:R334H	R	-	2	0	LOXL3	74617018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.879000	0.63100	2.612000	0.88384	0.563000	0.77884	CGC		PASS	0.647	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		5	277	5	277	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75118043	75118043	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:75118043G>A	ENST00000290573.2	+	18	3329	c.2729G>A	c.(2728-2730)cGc>cAc	p.R910H	HK2_ENST00000409174.1_Missense_Mutation_p.R882H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	910	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.R910H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGGCCTGCCGCATCCGTGAG	0.542																																						uc002snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2728-2730)CGC>CAC		hexokinase 2							55.0	57.0	56.0					2																	75118043		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75118043G>A		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2729G>A	2.37:g.75118043G>A	ENSP00000290573:p.Arg910His						p.R910H	NM_000189	NP_000180	P52789	HXK2_HUMAN			18	4655	+			910			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2729G>A	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	34	5.377331	0.95945	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.97089	-4.24;-4.24	4.99	4.99	0.66335	Hexokinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98658	0.9550	M	0.91920	3.255	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.99453	1.0941	10	0.87932	D	0	-20.5533	15.8192	0.78626	0.0:0.0:1.0:0.0	.	910	P52789	HXK2_HUMAN	H	910;910;882	ENSP00000290573:R910H;ENSP00000387140:R882H	ENSP00000290573:R910H	R	+	2	0	HK2	74971551	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.798000	0.91888	2.609000	0.88269	0.561000	0.74099	CGC		PASS	0.542	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		26	38	26	38	---	---	---	---
REG3G	130120	broad.mit.edu	37	2	79253881	79253881	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:79253881G>A	ENST00000272324.5	+	3	303	c.119G>A	c.(118-120)tGt>tAt	p.C40Y	REG3G_ENST00000409471.1_Missense_Mutation_p.C40Y|REG3G_ENST00000393897.2_Missense_Mutation_p.C40Y	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	40					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.C40Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGGATCAGCTGTCCCAAAGGC	0.527																																						uc002snw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)TGT>TAT		regenerating islet-derived 3 gamma precursor							86.0	83.0	84.0					2																	79253881		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79253881G>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.119G>A	2.37:g.79253881G>A	ENSP00000272324:p.Cys40Tyr					REG3G_uc002snx.2_Missense_Mutation_p.C40Y|REG3G_uc010ffu.2_Missense_Mutation_p.C40Y	p.C40Y	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			3	204	+			40					A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.119G>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742249	0.49151	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.38887	3.23;3.23;1.11	5.05	4.17	0.49024	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.000000	0.64402	D	0.000013	T	0.68146	0.2969	M	0.89904	3.07	0.20307	N	0.999914	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.963	T	0.63363	-0.6654	10	0.87932	D	0	.	11.0553	0.47913	0.0:0.0:0.815:0.185	.	40;40	Q3SYE6;Q6UW15	.;REG3G_HUMAN	Y	40	ENSP00000377475:C40Y;ENSP00000272324:C40Y;ENSP00000387105:C40Y	ENSP00000272324:C40Y	C	+	2	0	REG3G	79107389	0.992000	0.36948	0.104000	0.21259	0.086000	0.17979	2.566000	0.45948	1.483000	0.48342	0.655000	0.94253	TGT		PASS	0.527	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		66	97	66	97	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80085205	80085205	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:80085205C>T	ENST00000402739.4	+	3	370	c.365C>T	c.(364-366)aCc>aTc	p.T122I	CTNNA2_ENST00000496558.1_Missense_Mutation_p.T122I|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T122I|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T156I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T122I|CTNNA2_ENST00000466387.1_Missense_Mutation_p.T122I	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	122				T -> A (in Ref. 3; BAH12003). {ECO:0000305}.	axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.T122I(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAGCGCGGCACCATGGTACGG	0.567																																						uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(364-366)ACC>ATC		catenin, alpha 2 isoform 1							93.0	91.0	92.0					2																	80085205		2065	4190	6255	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80085205C>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.365C>T	2.37:g.80085205C>T	ENSP00000384638:p.Thr122Ile					CTNNA2_uc010yse.1_Missense_Mutation_p.T122I|CTNNA2_uc010ysf.1_Missense_Mutation_p.T122I|CTNNA2_uc010ysg.1_Missense_Mutation_p.T122I	p.T122I	NM_004389	NP_004380	P26232	CTNA2_HUMAN			3	370	+			122	T -> A (in Ref. 3; BAH12003).				B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.365C>T		.	.	.	.	.	.	.	.	.	.	C	19.28	3.798082	0.70567	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.67	5.67	0.87782	.	0.059085	0.64402	D	0.000002	T	0.25344	0.0616	N	0.11927	0.2	0.80722	D	1	B;B;B	0.15141	0.004;0.012;0.012	B;B;B	0.17098	0.017;0.015;0.015	T	0.06445	-1.0826	10	0.20519	T	0.43	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	122;122;122	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	I	122;122;156;122;122;122	ENSP00000418191:T122I;ENSP00000419295:T122I;ENSP00000355398:T156I;ENSP00000384638:T122I;ENSP00000444675:T122I;ENSP00000441705:T122I	ENSP00000355398:T156I	T	+	2	0	CTNNA2	79938713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.864000	0.56024	2.677000	0.91161	0.655000	0.94253	ACC		PASS	0.567	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		88	151	88	151	---	---	---	---
TRIM43	129868	broad.mit.edu	37	2	96260880	96260880	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:96260880C>T	ENST00000272395.2	+	3	630	c.494C>T	c.(493-495)gCc>gTc	p.A165V		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	165						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.A165V(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						GGAAGAACAGCCTTCCTCTGG	0.388																																						uc002suv.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(493-495)GCC>GTC		tripartite motif-containing 43							70.0	65.0	67.0					2																	96260880		2203	4300	6503	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96260880C>T	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.494C>T	2.37:g.96260880C>T	ENSP00000272395:p.Ala165Val						p.A165V	NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN			3	630	+			165					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.494C>T	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	0.209	-1.038538	0.02013	.	.	ENSG00000144015	ENST00000272395	T	0.04156	3.69	0.629	-1.26	0.09376	.	.	.	.	.	T	0.02304	0.0071	N	0.12569	0.235	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.47886	-0.9082	8	0.19590	T	0.45	5.5026	.	.	.	.	165	Q96BQ3	TRI43_HUMAN	V	165	ENSP00000272395:A165V	ENSP00000272395:A165V	A	+	2	0	TRIM43	95624607	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.484000	0.02316	-0.881000	0.03992	-0.587000	0.04127	GCC		PASS	0.388	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		21	55	21	55	---	---	---	---
ADRA2B	151	broad.mit.edu	37	2	96780641	96780641	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:96780641G>C	ENST00000409345.3	-	1	1343	c.1248C>G	c.(1246-1248)agC>agG	p.S416R		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	416					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)	p.Y416*(1)|p.S416R(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGTTCAGTGAGCTGTTGCAGT	0.597																																						uc002svi.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(2)|lung(1)	3						c.(1255-1257)AGC>AGG		alpha-2B-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						44.0	53.0	50.0					2																	96780641		2178	4283	6461	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96780641G>C	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.1248C>G	2.37:g.96780641G>C	ENSP00000387281:p.Ser416Arg						p.S419R	NM_000682	NP_000673	P18089	ADA2B_HUMAN			3	1257	-			419			Helical; Name=7; (By similarity).		Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.1257C>G	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501384	0.44455	.	.	ENSG00000222040	ENST00000409345	T	0.79653	-1.29	5.62	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.92545	0.7632	H	0.98612	4.28	0.50313	D	0.999863	D	0.67145	0.996	D	0.70227	0.968	D	0.92980	0.6405	9	0.87932	D	0	.	10.7739	0.46338	0.2478:0.0:0.7522:0.0	.	419	P18089	ADA2B_HUMAN	R	416	ENSP00000387281:S416R	ENSP00000387281:S416R	S	-	3	2	ADRA2B	96144368	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	2.871000	0.48459	0.731000	0.32448	-0.343000	0.07986	AGC		PASS	0.597	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			3	17	3	17	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98928769	98928769	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:98928769C>A	ENST00000477737.1	+	28	4046	c.3842C>A	c.(3841-3843)aCc>aAc	p.T1281N	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1281								p.T1281N(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTCCAAGCCACCCACAGCAGC	0.617																																						uc002syo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|skin(1)	6						c.(3841-3843)ACC>AAC		von Willebrand factor A domain containing 3B							57.0	67.0	63.0					2																	98928769		2101	4217	6318	SO:0001583	missense	200403							g.chr2:98928769C>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3842C>A	2.37:g.98928769C>A	ENSP00000417955:p.Thr1281Asn					VWA3B_uc002syr.1_3'UTR|VWA3B_uc002sys.2_RNA	p.T1281N	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			28	4106	+			1281					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3842C>A	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	3.005	-0.205218	0.06180	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.06449	3.3	4.03	0.261	0.15592	.	.	.	.	.	T	0.03783	0.0107	N	0.14661	0.345	0.23689	N	0.997105	B	0.32693	0.38	B	0.31191	0.125	T	0.41574	-0.9501	9	0.72032	D	0.01	.	6.4353	0.21819	0.0:0.5751:0.0:0.4249	.	1281	Q502W6	VWA3B_HUMAN	N	1281;403	ENSP00000417955:T1281N	ENSP00000351009:T403N	T	+	2	0	VWA3B	98295201	0.000000	0.05858	0.426000	0.26672	0.003000	0.03518	-0.038000	0.12144	0.032000	0.15435	-0.137000	0.14449	ACC		PASS	0.617	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		30	67	30	67	---	---	---	---
LONRF2	164832	broad.mit.edu	37	2	100906843	100906843	+	Silent	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:100906843C>G	ENST00000393437.3	-	10	2436	c.1797G>C	c.(1795-1797)gtG>gtC	p.V599V	LONRF2_ENST00000409647.1_Silent_p.V356V	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	599	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.V599V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GAAACGTTCTCACGTCCTTAA	0.473																																						uc002tal.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1795-1797)GTG>GTC		LON peptidase N-terminal domain and ring finger							139.0	125.0	130.0					2																	100906843		2203	4300	6503	SO:0001819	synonymous_variant	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100906843C>G	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1797G>C	2.37:g.100906843C>G						LONRF2_uc010yvs.1_RNA	p.V599V	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN			10	2437	-			599			Lon.		B9A006|Q6ZSR4	Silent	SNP	ENST00000393437.3	37	c.1797G>C	CCDS2046.2																																																																																				PASS	0.473	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		106	219	106	219	---	---	---	---
TGFBRAP1	9392	broad.mit.edu	37	2	105900831	105900831	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:105900831G>C	ENST00000393359.2	-	5	1489	c.1063C>G	c.(1063-1065)Cag>Gag	p.Q355E	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.Q355E			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	355					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.Q355E(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AATCCCGCCTGCTGCAGAATC	0.453																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1063-1065)CAG>GAG		transforming growth factor, beta receptor							117.0	112.0	114.0					2																	105900831		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105900831G>C	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1063C>G	2.37:g.105900831G>C	ENSP00000377027:p.Gln355Glu					TGFBRAP1_uc010fjc.2_Missense_Mutation_p.Q125E|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.Q355E	p.Q355E	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			5	1147	-			355					A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.1063C>G	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081814	0.94050	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.47177	0.85;0.85	5.7	5.7	0.88788	.	0.056695	0.64402	D	0.000001	T	0.47746	0.1462	M	0.63843	1.955	0.80722	D	1	P	0.37573	0.6	B	0.39590	0.304	T	0.45396	-0.9264	10	0.06099	T	0.92	-31.319	19.8471	0.96713	0.0:0.0:1.0:0.0	.	355	Q8WUH2	TGFA1_HUMAN	E	355	ENSP00000377027:Q355E;ENSP00000258449:Q355E	ENSP00000258449:Q355E	Q	-	1	0	TGFBRAP1	105267263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.688000	0.91661	0.655000	0.94253	CAG		PASS	0.453	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		58	105	58	105	---	---	---	---
SOWAHC	65124	broad.mit.edu	37	2	110373346	110373346	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:110373346A>G	ENST00000356454.3	+	1	1436	c.1280A>G	c.(1279-1281)aAa>aGa	p.K427R	SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000356688.4_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	427								p.K427R(1)									ATCACCTACAAACTCTCACAC	0.642																																						uc002tfb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1279-1281)AAA>AGA		ankyrin repeat domain 57							41.0	46.0	44.0					2																	110373346		2203	4300	6503	SO:0001583	missense	65124							g.chr2:110373346A>G	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1280A>G	2.37:g.110373346A>G	ENSP00000365830:p.Lys427Arg					SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	p.K427R	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN			1	1436	+			427					Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	c.1280A>G	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	A	3.409	-0.120599	0.06838	.	.	ENSG00000198142	ENST00000356454	T	0.46063	0.88	4.69	-0.229	0.13094	.	0.777662	0.10793	N	0.633474	T	0.24431	0.0592	N	0.24115	0.695	0.20873	N	0.999836	B	0.12013	0.005	B	0.12156	0.007	T	0.29701	-1.0003	10	0.08179	T	0.78	-2.8425	10.1767	0.42943	0.3919:0.0:0.6081:0.0	.	427	Q53LP3	ANR57_HUMAN	R	427	ENSP00000365830:K427R	ENSP00000365830:K427R	K	+	2	0	ANKRD57	109730635	0.772000	0.28567	0.942000	0.38095	0.291000	0.27294	1.048000	0.30379	-0.180000	0.10637	0.454000	0.30748	AAA		PASS	0.642	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1	NM_023016		9	140	9	140	---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112608443	112608443	+	Silent	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:112608443C>A	ENST00000341068.3	-	14	2332	c.1560G>T	c.(1558-1560)acG>acT	p.T520T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	520					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T520T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTTGGACATCGTCAGAGAGG	0.428																																						uc002thi.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1558-1560)ACG>ACT		anaphase promoting complex subunit 1							46.0	47.0	47.0					2																	112608443		2202	4297	6499	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608443C>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1560G>T	2.37:g.112608443C>A							p.T520T	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			14	1807	-			520					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.1560G>T	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266865	0.23136	.	.	ENSG00000153107	ENST00000427997	.	.	.	4.57	-6.58	0.01836	.	.	.	.	.	T	0.47581	0.1453	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51084	-0.8750	4	.	.	.	-5.4231	7.3325	0.26590	0.0:0.2455:0.4872:0.2673	.	.	.	.	Y	55	.	.	D	-	1	0	ANAPC1	112324914	0.021000	0.18746	0.873000	0.34254	0.968000	0.65278	-1.494000	0.02296	-1.029000	0.03317	0.449000	0.29647	GAT		PASS	0.428	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		4	200	4	200	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116534783	116534783	+	Splice_Site	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:116534783G>T	ENST00000410059.1	+	14	1701		c.e14-1		DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000310323.8_Splice_Site|DPP10_ENST00000393147.2_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)							integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.?(4)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCTTTGCAGAGTAAAAGTG	0.368																																						uc002tla.1																			4	Unknown(4)		lung(4)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.e14-1		dipeptidyl peptidase 10 isoform long							93.0	92.0	92.0					2																	116534783		2203	4299	6502	SO:0001630	splice_region_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116534783G>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1222-1G>T	2.37:g.116534783G>T						DPP10_uc002tlb.1_Splice_Site_p.S358_splice|DPP10_uc002tlc.1_Splice_Site_p.S404_splice|DPP10_uc002tle.2_Splice_Site_p.S412_splice|DPP10_uc002tlf.1_Splice_Site_p.S401_splice	p.S408_splice	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			14	1679	+								A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Splice_Site	SNP	ENST00000410059.1	37	c.1222_splice	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428507	0.83667	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1089	0.81244	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP10	116251253	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.063000	0.89482	2.731000	0.93534	0.655000	0.94253	.		PASS	0.368	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	Intron	58	73	58	73	---	---	---	---
MARCO	8685	broad.mit.edu	37	2	119735500	119735500	+	Missense_Mutation	SNP	T	T	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:119735500T>G	ENST00000327097.4	+	8	890	c.755T>G	c.(754-756)cTg>cGg	p.L252R	MARCO_ENST00000541757.1_Missense_Mutation_p.L174R	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	252	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.L252R(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						AAAGGAGACCTGGGTCTCCCA	0.607																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(754-756)CTG>CGG		macrophage receptor with collagenous structure							38.0	38.0	38.0					2																	119735500		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119735500T>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.755T>G	2.37:g.119735500T>G	ENSP00000318916:p.Leu252Arg					MARCO_uc010yyf.1_Missense_Mutation_p.L174R	p.L252R	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			8	887	+			252			Collagen-like.|Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.755T>G	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	T	5.790	0.330125	0.10956	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.83755	-1.76;-1.76	4.62	-2.96	0.05547	.	1.465370	0.04371	N	0.359148	T	0.48466	0.1501	N	0.00599	-1.345	0.09310	N	1	B	0.18013	0.025	B	0.20384	0.029	T	0.46748	-0.9169	9	.	.	.	.	1.0741	0.01628	0.154:0.3061:0.1583:0.3816	.	252	Q9UEW3	MARCO_HUMAN	R	252;252;174	ENSP00000318916:L252R;ENSP00000441769:L174R	.	L	+	2	0	MARCO	119451970	0.000000	0.05858	0.001000	0.08648	0.603000	0.37013	-0.017000	0.12590	-0.265000	0.09352	0.459000	0.35465	CTG		PASS	0.607	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		5	23	5	23	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125175154	125175154	+	Nonsense_Mutation	SNP	C	C	A	rs368252422		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:125175154C>A	ENST00000431078.1	+	4	880	c.516C>A	c.(514-516)taC>taA	p.Y172*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	172	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Y172*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCGAGGTCTACGGATGTTCCT	0.473																																						uc002tno.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(10)	10						c.(514-516)TAC>TAA		contactin associated protein-like 5 precursor							79.0	82.0	81.0					2																	125175154		1990	4175	6165	SO:0001587	stop_gained	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125175154C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.516C>A	2.37:g.125175154C>A	ENSP00000399013:p.Tyr172*					CNTNAP5_uc010flu.2_Nonsense_Mutation_p.Y172*	p.Y172*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	4	880	+			172			F5/8 type C.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Nonsense_Mutation	SNP	ENST00000431078.1	37	c.516C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	40	7.974768	0.98591	.	.	ENSG00000155052	ENST00000431078	.	.	.	6.17	-3.98	0.04082	.	0.154874	0.30210	N	0.010154	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4432	0.67333	0.0:0.3072:0.0:0.6928	.	.	.	.	X	172	.	ENSP00000399013:Y172X	Y	+	3	2	CNTNAP5	124891624	0.206000	0.23470	0.921000	0.36526	0.902000	0.53008	-0.409000	0.07160	-0.622000	0.05626	0.655000	0.94253	TAC		PASS	0.473	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			22	24	22	24	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125175156	125175156	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:125175156G>A	ENST00000431078.1	+	4	882	c.518G>A	c.(517-519)gGa>gAa	p.G173E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	173	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.G173E(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAGGTCTACGGATGTTCCTAT	0.473																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(517-519)GGA>GAA		contactin associated protein-like 5 precursor							74.0	77.0	76.0					2																	125175156		1986	4170	6156	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125175156G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.518G>A	2.37:g.125175156G>A	ENSP00000399013:p.Gly173Glu					CNTNAP5_uc010flu.2_Missense_Mutation_p.G173E	p.G173E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	4	882	+			173			F5/8 type C.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.518G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115582	0.94339	.	.	ENSG00000155052	ENST00000431078	D	0.99201	-5.55	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.48767	D	0.000170	D	0.99507	0.9824	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98844	1.0756	10	0.48119	T	0.1	.	19.4575	0.94900	0.0:0.0:1.0:0.0	.	173	Q8WYK1	CNTP5_HUMAN	E	173	ENSP00000399013:G173E	ENSP00000399013:G173E	G	+	2	0	CNTNAP5	124891626	1.000000	0.71417	0.961000	0.40146	0.830000	0.47004	9.262000	0.95591	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.473	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			23	23	23	23	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	131976356	131976356	+	Silent	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:131976356C>A	ENST00000356920.5	+	1	475	c.381C>A	c.(379-381)gcC>gcA	p.A127A	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.A127A	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	127					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A127A(2)									ATGACAGCGCCTTCATGGAGC	0.597																																						uc002tsn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(379-381)GCC>GCA		protein expressed in prostate, ovary, testis,							101.0	105.0	103.0					2																	131976356		2203	4300	6503	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131976356C>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.381C>A	2.37:g.131976356C>A						PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	p.A127A	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			1	433	+			127					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.381C>A	CCDS46414.1																																																																																				PASS	0.597	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		124	102	124	102	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136575347	136575347	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:136575347G>T	ENST00000264162.2	-	6	1281	c.1271C>A	c.(1270-1272)gCg>gAg	p.A424E	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	424	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.A424E(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTCCAGCGTCGCTTGGCCCTC	0.632																																						uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(1270-1272)GCG>GAG		lactase-phlorizin hydrolase preproprotein							68.0	64.0	65.0					2																	136575347		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136575347G>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1271C>A	2.37:g.136575347G>T	ENSP00000264162:p.Ala424Glu						p.A424E	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	6	1282	-			424			Extracellular (Potential).|4 X approximate repeats.|2.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.1271C>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	8.304	0.820500	0.16678	.	.	ENSG00000115850	ENST00000264162	T	0.32753	1.44	5.77	2.03	0.26663	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.740697	0.13735	N	0.366370	T	0.26412	0.0645	L	0.41961	1.31	0.09310	N	1	P	0.48162	0.906	P	0.48030	0.564	T	0.08027	-1.0742	10	0.02654	T	1	-8.5975	9.4481	0.38710	0.2938:0.0:0.7062:0.0	.	424	P09848	LPH_HUMAN	E	424	ENSP00000264162:A424E	ENSP00000264162:A424E	A	-	2	0	LCT	136291817	0.129000	0.22400	0.001000	0.08648	0.002000	0.02628	0.307000	0.19296	0.167000	0.19631	-0.126000	0.14955	GCG		PASS	0.632	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		57	83	57	83	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141215062	141215062	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:141215062G>C	ENST00000389484.3	-	61	10755	c.9784C>G	c.(9784-9786)Cag>Gag	p.Q3262E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3262					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.Q3262E(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)		TGATACACCTGGATATCTGTG	0.383										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.(9784-9786)CAG>GAG		low density lipoprotein-related protein 1B							183.0	165.0	171.0					2																	141215062		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141215062G>C	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.9784C>G	2.37:g.141215062G>C	ENSP00000374135:p.Gln3262Glu	TSP Lung(27;0.18)					p.Q3262E	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)	61	10756	-		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)	3262			Extracellular (Potential).|LDL-receptor class B 32.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9784C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546334	0.45383	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90955	-2.76	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.224693	0.34853	U	0.003621	D	0.84955	0.5587	L	0.39467	1.215	0.29372	N	0.863921	B	0.06786	0.001	B	0.06405	0.002	T	0.70626	-0.4820	10	0.08381	T	0.77	.	14.871	0.70456	0.0:0.1432:0.8568:0.0	.	3262	Q9NZR2	LRP1B_HUMAN	E	3262;3200	ENSP00000374135:Q3262E	ENSP00000374135:Q3262E	Q	-	1	0	LRP1B	140931532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.058000	0.64300	2.550000	0.86006	0.655000	0.94253	CAG		PASS	0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		59	229	59	229	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141771249	141771249	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:141771249G>T	ENST00000389484.3	-	14	3227	c.2256C>A	c.(2254-2256)ttC>ttA	p.F752L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	752					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.F752L(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)		AATCAGTCCAGAACACATAAT	0.388										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.(2254-2256)TTC>TTA		low density lipoprotein-related protein 1B							130.0	124.0	126.0					2																	141771249		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141771249G>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.2256C>A	2.37:g.141771249G>T	ENSP00000374135:p.Phe752Leu	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.F752L	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)	14	3228	-		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)	752			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2256C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705273	0.68615	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91011	-2.77	5.98	5.98	0.97165	Six-bladed beta-propeller, TolB-like (1);	0.067041	0.64402	U	0.000013	D	0.89483	0.6728	M	0.82056	2.57	0.46416	D	0.999039	P	0.35745	0.518	B	0.31946	0.138	D	0.88870	0.3332	10	0.62326	D	0.03	.	10.7423	0.46160	0.1406:0.0:0.8594:0.0	.	752	Q9NZR2	LRP1B_HUMAN	L	752;690	ENSP00000374135:F752L	ENSP00000374135:F752L	F	-	3	2	LRP1B	141487719	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.485000	0.35519	2.838000	0.97847	0.655000	0.94253	TTC		PASS	0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		28	184	28	184	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467369	164467369	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:164467369C>A	ENST00000333129.3	-	3	1287	c.973G>T	c.(973-975)Ggg>Tgg	p.G325W	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	325					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.G325W(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCTCCTTGCCCTGCCATGTAG	0.468																																						uc002uck.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(973-975)GGG>TGG		fidgetin							100.0	99.0	99.0					2																	164467369		1938	4136	6074	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467369C>A	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.973G>T	2.37:g.164467369C>A	ENSP00000333836:p.Gly325Trp						p.G325W	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	1284	-			325					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.973G>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889829	0.72524	.	.	ENSG00000182263	ENST00000333129	D	0.92446	-3.04	5.94	5.94	0.96194	.	0.104089	0.64402	D	0.000003	D	0.93667	0.7977	L	0.51422	1.61	0.80722	D	1	D	0.53312	0.959	P	0.53593	0.73	D	0.93719	0.7031	10	0.87932	D	0	-6.4042	20.3666	0.98879	0.0:1.0:0.0:0.0	.	325	Q5HY92	FIGN_HUMAN	W	325	ENSP00000333836:G325W	ENSP00000333836:G325W	G	-	1	0	FIGN	164175615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.784000	0.85713	2.814000	0.96858	0.563000	0.77884	GGG		PASS	0.468	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		138	118	138	118	---	---	---	---
SCN2A	6326	broad.mit.edu	37	2	166231454	166231454	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:166231454G>C	ENST00000375437.2	+	22	4522	c.4232G>C	c.(4231-4233)gGa>gCa	p.G1411A	SCN2A_ENST00000283256.6_Missense_Mutation_p.G1411A|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1411A|SCN2A_ENST00000357398.3_Missense_Mutation_p.G1411A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1411					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.G1411A(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTAGGACTTGGATATCTGTCT	0.348																																						uc002udc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(1)|pancreas(1)	8						c.(4231-4233)GGA>GCA		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						48.0	47.0	47.0					2																	166231454		2203	4299	6502	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231454G>C	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4232G>C	2.37:g.166231454G>C	ENSP00000364586:p.Gly1411Ala					SCN2A_uc002udd.2_Missense_Mutation_p.G1411A|SCN2A_uc002ude.2_Missense_Mutation_p.G1411A	p.G1411A	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			22	4522	+			1411			III.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4232G>C	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979648	0.53827	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	4.67	4.67	0.58626	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.92701	0.7680	N	0.03294	-0.36	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.98;1.0	D	0.93418	0.6774	10	0.32370	T	0.25	.	17.9467	0.89040	0.0:0.0:1.0:0.0	.	1411;1411	Q99250-2;Q99250	.;SCN2A_HUMAN	A	1411	ENSP00000364586:G1411A;ENSP00000349973:G1411A;ENSP00000283256:G1411A;ENSP00000364576:G1411A	ENSP00000283256:G1411A	G	+	2	0	SCN2A	165939700	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	9.813000	0.99286	2.291000	0.77112	0.655000	0.94253	GGA		PASS	0.348	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		15	60	15	60	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179397670	179397670	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:179397670G>A	ENST00000591111.1	-	308	98973	c.98749C>T	c.(98749-98751)Cgc>Tgc	p.R32917C	TTN_ENST00000359218.5_Missense_Mutation_p.R25618C|TTN_ENST00000460472.2_Missense_Mutation_p.R25493C|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31990C|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R34558C|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25685C|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32917					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.R31990C(1)|p.R25493C(1)|p.R25685C(1)|p.R25618C(1)|p.R31988C(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)			TGCTTGATGCGTTGGTCTTCT	0.433																																						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.(95968-95970)CGC>TGC		titin isoform N2-A							132.0	134.0	133.0					2																	179397670		2049	4200	6249	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397670G>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.98749C>T	2.37:g.179397670G>A	ENSP00000465570:p.Arg32917Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R25685C|TTN_uc010zfi.1_Missense_Mutation_p.R25618C|TTN_uc010zfj.1_Missense_Mutation_p.R25493C	p.R31990C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	96192	-			32917					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.95968C>T		.	.	.	.	.	.	.	.	.	.	G	11.88	1.769279	0.31320	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63255	-0.03;0.2;0.18;0.17	5.94	5.01	0.66863	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.39733	0.1089	N	0.08118	0	0.09310	N	1	P;P;P;P	0.39116	0.66;0.66;0.66;0.66	B;B;B;B	0.30646	0.065;0.065;0.118;0.118	T	0.37619	-0.9698	9	0.87932	D	0	.	12.2566	0.54627	0.0:0.0:0.6873:0.3127	.	25493;25618;25685;32917	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	31990;25493;25685;25618;25490	ENSP00000343764:R31990C;ENSP00000434586:R25493C;ENSP00000340554:R25685C;ENSP00000352154:R25618C	ENSP00000340554:R25685C	R	-	1	0	TTN	179105916	0.013000	0.17824	0.582000	0.28627	0.444000	0.32077	1.600000	0.36762	2.826000	0.97356	0.561000	0.74099	CGC		PASS	0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		182	189	182	189	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179578804	179578804	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:179578804T>C	ENST00000591111.1	-	90	25854	c.25630A>G	c.(25630-25632)Act>Gct	p.T8544A	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T7617A|TTN_ENST00000589042.1_Missense_Mutation_p.T8861A|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12708	Ig-like 68.				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.T7617A(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)			AACCACTTAGTACTGAGTTCA	0.423																																						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.(22849-22851)ACT>GCT		titin isoform N2-A							110.0	101.0	104.0					2																	179578804		1872	4103	5975	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179578804T>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.25630A>G	2.37:g.179578804T>C	ENSP00000465570:p.Thr8544Ala					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4278A	p.T7617A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		89	23073	-			8544					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.22849A>G		.	.	.	.	.	.	.	.	.	.	T	11.66	1.706370	0.30232	.	.	ENSG00000155657	ENST00000342992	T	0.66280	-0.2	5.86	2.07	0.26955	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36276	0.0961	N	0.05306	-0.075	0.31197	N	0.700187	B	0.06786	0.001	B	0.04013	0.001	T	0.33624	-0.9861	9	0.87932	D	0	.	4.1999	0.10460	0.145:0.2648:0.0:0.5901	.	8544	Q8WZ42	TITIN_HUMAN	A	7617	ENSP00000343764:T7617A	ENSP00000343764:T7617A	T	-	1	0	TTN	179287049	0.316000	0.24580	0.336000	0.25522	0.847000	0.48162	0.641000	0.24720	0.498000	0.27948	0.533000	0.62120	ACT		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	53	18	53	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179612908	179612908	+	Intron	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:179612908G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.S4740F|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATATCTGCAGATGAGGTTGG	0.358																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14218-14220)TCT>TTT		titin isoform novex-3							64.0	65.0	64.0					2																	179612908		2203	4297	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612908G>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.10360+4942C>T	2.37:g.179612908G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.S4740F	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14443	-			851					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.14219C>T		.	.	.	.	.	.	.	.	.	.	G	14.33	2.504079	0.44558	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.62639	0.01	5.07	4.19	0.49359	.	.	.	.	.	T	0.54062	0.1835	L	0.47716	1.5	0.20196	N	0.999928	B	0.12013	0.005	B	0.14578	0.011	T	0.47235	-0.9133	9	0.44086	T	0.13	.	9.5841	0.39506	0.0811:0.1526:0.7663:0.0	.	4740	Q8WZ42-6	.	F	4740;54	ENSP00000354117:S4740F	ENSP00000304714:S54F	S	-	2	0	TTN	179321153	0.002000	0.14202	0.007000	0.13788	0.005000	0.04900	1.117000	0.31234	1.460000	0.47911	-0.199000	0.12753	TCT		PASS	0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		56	81	56	81	---	---	---	---
ZNF385B	151126	broad.mit.edu	37	2	180634308	180634308	+	Missense_Mutation	SNP	G	G	A	rs138550246		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:180634308G>A	ENST00000410066.1	-	3	778	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	59	Required for induction of apoptosis.				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.R59C(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)			ACTCGTTTGCGGTGGGATTTG	0.577																																					Colon(155;204 2491 32774 51842)	uc002unn.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(175-177)CGC>TGC		zinc finger protein 385B isoform 1		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	88.0	78.0	82.0		175	6.1	1.0	2	dbSNP_134	82	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF385B	NM_152520.4	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	59/472	180634308	2,13004	2203	4300	6503	SO:0001583	missense	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180634308G>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.175C>T	2.37:g.180634308G>A	ENSP00000386845:p.Arg59Cys						p.R59C	NM_152520	NP_689733	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		3	779	-			59			Matrin-type 1.		Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	c.175C>T	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.373992	0.61735	2.27E-4	1.16E-4	ENSG00000144331	ENST00000410066;ENST00000451732	T;T	0.50277	0.75;0.75	6.06	6.06	0.98353	Zinc finger, U1-type (1);	0.077905	0.52532	D	0.000071	T	0.26955	0.0660	N	0.08118	0	0.80722	D	1	P	0.51537	0.946	B	0.37422	0.249	T	0.11275	-1.0594	10	0.39692	T	0.17	-8.922	14.746	0.69490	0.0706:0.0:0.9294:0.0	.	59	Q569K4	Z385B_HUMAN	C	59	ENSP00000386845:R59C;ENSP00000409978:R59C	ENSP00000386845:R59C	R	-	1	0	ZNF385B	180342553	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.410000	0.73294	2.882000	0.98803	0.655000	0.94253	CGC		PASS	0.577	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		4	85	4	85	---	---	---	---
ASNSD1	54529	broad.mit.edu	37	2	190532263	190532263	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:190532263A>G	ENST00000260952.4	+	4	1818	c.1405A>G	c.(1405-1407)Aga>Gga	p.R469G	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	469	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)	p.R469G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GTTTGCTTCTAGAGGAATTGG	0.428																																						uc002uqt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1405-1407)AGA>GGA		asparagine synthetase domain containing 1							138.0	144.0	142.0					2																	190532263		2144	4260	6404	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190532263A>G	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1405A>G	2.37:g.190532263A>G	ENSP00000260952:p.Arg469Gly						p.R469G	NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	1839	+			469			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.1405A>G	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404404	0.42613	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.52057	0.68;0.68	5.72	-1.66	0.08265	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	M	0.84326	2.69	0.58432	D	0.999995	P	0.40180	0.705	B	0.42245	0.381	T	0.53472	-0.8434	10	0.49607	T	0.09	-16.3427	9.9611	0.41697	0.47:0.4673:0.0627:0.0	.	469	Q9NWL6	ASND1_HUMAN	G	469	ENSP00000260952:R469G;ENSP00000406790:R469G	ENSP00000260952:R469G	R	+	1	2	ASNSD1	190240508	0.074000	0.21230	0.864000	0.33941	0.996000	0.88848	0.701000	0.25616	-0.162000	0.10964	0.459000	0.35465	AGA		PASS	0.428	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		169	171	169	171	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197184220	197184220	+	Nonsense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:197184220G>C	ENST00000260983.3	-	9	1576	c.1394C>G	c.(1393-1395)tCa>tGa	p.S465*	HECW2_ENST00000409111.1_Nonsense_Mutation_p.S109*	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	465					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S465*(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTCTTCATCTGAATCAATATG	0.517																																						uc002utm.1																			1	Substitution - Nonsense(1)		lung(1)	skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(1393-1395)TCA>TGA		HECT, C2 and WW domain containing E3 ubiquitin							51.0	49.0	50.0					2																	197184220		2203	4300	6503	SO:0001587	stop_gained	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184220G>C	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1394C>G	2.37:g.197184220G>C	ENSP00000260983:p.Ser465*					HECW2_uc002utl.1_Nonsense_Mutation_p.S109*	p.S465*	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	1577	-			465					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Nonsense_Mutation	SNP	ENST00000260983.3	37	c.1394C>G	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	39	7.533774	0.98342	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	.	.	.	5.5	4.59	0.56863	.	1.264630	0.05271	N	0.517596	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	14.2958	0.66311	0.0:0.0:0.8526:0.1474	.	.	.	.	X	109;465	.	ENSP00000260983:S465X	S	-	2	0	HECW2	196892465	1.000000	0.71417	0.950000	0.38849	0.839000	0.47603	6.842000	0.75379	2.868000	0.98415	0.555000	0.69702	TCA		PASS	0.517	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		33	31	33	31	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216300472	216300472	+	Silent	SNP	C	C	G	rs149268490	byFrequency	TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:216300472C>G	ENST00000359671.1	-	1	319	c.54G>C	c.(52-54)ggG>ggC	p.G18G	FN1_ENST00000357867.4_Silent_p.G18G|FN1_ENST00000323926.6_Silent_p.G18G|FN1_ENST00000446046.1_Silent_p.G18G|FN1_ENST00000443816.1_Silent_p.G18G|FN1_ENST00000421182.1_Silent_p.G18G|FN1_ENST00000356005.4_Silent_p.G18G|FN1_ENST00000354785.4_Silent_p.G18G|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000336916.4_Silent_p.G18G|FN1_ENST00000432072.2_Silent_p.G18G|FN1_ENST00000346544.3_Silent_p.G18G|FN1_ENST00000357009.2_Silent_p.G18G|FN1_ENST00000345488.5_Silent_p.G18G|FN1_ENST00000426059.1_Silent_p.G18G			P02751	FINC_HUMAN	fibronectin 1	18					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.G18G(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GCACCGCTGTCCCCAGGCACT	0.667													C|||	2	0.000399361	0.0	0.0	5008	,	,		13287	0.0		0.002	False		,,,				2504	0.0					uc002vfa.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(52-54)GGG>GGC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	,,,,,	2,4402		0,2,2200	19.0	18.0	19.0		54,54,54,54,54,54	1.1	0.6	2	dbSNP_134	19	7,8593		0,7,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FN1	NM_002026.2,NM_054034.2,NM_212474.1,NM_212476.1,NM_212478.1,NM_212482.1	,,,,,	0,9,6493	GG,GC,CC		0.0814,0.0454,0.0692	,,,,,	18/2356,18/658,18/2177,18/2297,18/2331,18/2478	216300472	9,12995	2202	4300	6502	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216300472C>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.54G>C	2.37:g.216300472C>G						FN1_uc002vfb.2_Silent_p.G18G|FN1_uc002vfc.2_Silent_p.G18G|FN1_uc002vfd.2_Silent_p.G18G|FN1_uc002vfe.2_Silent_p.G18G|FN1_uc002vff.2_Silent_p.G18G|FN1_uc002vfg.2_Silent_p.G18G|FN1_uc002vfh.2_Silent_p.G18G|FN1_uc002vfi.2_Silent_p.G18G|FN1_uc002vfj.2_Silent_p.G18G|FN1_uc002vfl.2_Silent_p.G18G	p.G18G	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	1	320	-		Renal(323;0.127)	18					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.54G>C																																																																																					PASS	0.667	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		4	4	4	4	---	---	---	---
CTDSP1	58190	broad.mit.edu	37	2	219267090	219267090	+	Missense_Mutation	SNP	T	T	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:219267090T>G	ENST00000273062.2	+	4	676	c.340T>G	c.(340-342)Ttc>Gtc	p.F114V	CTDSP1_ENST00000443891.1_Missense_Mutation_p.F113V|CTDSP1_ENST00000488627.1_3'UTR|MIR26B_ENST00000362251.2_RNA	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	114	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.F114V(1)		NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAACGCGGACTTCATCATCCC	0.632																																						uc002vhy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(340-342)TTC>GTC		CTD (carboxy-terminal domain, RNA polymerase II,							91.0	88.0	89.0					2																	219267090		2203	4300	6503	SO:0001583	missense	58190				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding	g.chr2:219267090T>G	AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	21614	protein-coding gene	gene with protein product	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.340T>G	2.37:g.219267090T>G	ENSP00000273062:p.Phe114Val					CTDSP1_uc002vhx.2_Missense_Mutation_p.F113V|CTDSP1_uc002vhz.2_5'UTR|uc010zkd.1_5'Flank|MIR26B_hsa-mir-26b|MI0000084_5'Flank	p.F114V	NM_021198	NP_067021	Q9GZU7	CTDS1_HUMAN		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	676	+		Renal(207;0.0915)	114			FCP1 homology.		C9IYG0|Q7Z5Q3|Q7Z5Q4	Missense_Mutation	SNP	ENST00000273062.2	37	c.340T>G	CCDS2416.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386311	0.82902	.	.	ENSG00000144579	ENST00000443891;ENST00000273062	T;T	0.17213	2.29;2.29	4.97	4.97	0.65823	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.41840	-0.9486	10	0.87932	D	0	-29.7494	8.9851	0.35988	0.0:0.0844:0.0:0.9156	.	114;113	Q9GZU7;C9IYG0	CTDS1_HUMAN;.	V	113;114	ENSP00000392248:F113V;ENSP00000273062:F114V	ENSP00000273062:F114V	F	+	1	0	CTDSP1	218975334	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.137000	0.71710	1.839000	0.53478	0.459000	0.35465	TTC		PASS	0.632	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198		74	99	74	99	---	---	---	---
DES	1674	broad.mit.edu	37	2	220283366	220283366	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:220283366G>T	ENST00000373960.3	+	1	268	c.182G>T	c.(181-183)gGc>gTc	p.G61V		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	61	Head.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.G61V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGCACGTCGGGCGGGGCCGGG	0.741																																						uc002vll.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(181-183)GGC>GTC		desmin							5.0	7.0	6.0					2																	220283366		2072	4032	6104	SO:0001583	missense	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220283366G>T	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.182G>T	2.37:g.220283366G>T	ENSP00000363071:p.Gly61Val						p.G61V	NM_001927	NP_001918	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	268	+		Renal(207;0.0183)	61			Head.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	c.182G>T	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031378	0.35797	.	.	ENSG00000175084	ENST00000373960	D	0.86097	-2.07	4.86	4.86	0.63082	Intermediate filament head, DNA-binding domain (1);	0.133843	0.32655	N	0.005813	T	0.71962	0.3402	N	0.08118	0	0.54753	D	0.999989	B	0.27882	0.192	B	0.26202	0.067	T	0.68640	-0.5355	10	0.16896	T	0.51	.	17.9662	0.89100	0.0:0.0:1.0:0.0	.	61	P17661	DESM_HUMAN	V	61	ENSP00000363071:G61V	ENSP00000363071:G61V	G	+	2	0	DES	219991610	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	2.505000	0.45424	2.420000	0.82092	0.561000	0.74099	GGC		PASS	0.741	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		3	7	3	7	---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225339077	225339077	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:225339077T>A	ENST00000264414.4	-	16	2530	c.2192A>T	c.(2191-2193)aAg>aTg	p.K731M	CUL3_ENST00000409096.1_Missense_Mutation_p.K707M|CUL3_ENST00000409777.1_Missense_Mutation_p.K707M|CUL3_ENST00000344951.4_Missense_Mutation_p.K665M	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	731					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.K731M(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAATCGCGCCTTCAACTGCTG	0.333																																						uc002vny.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(2191-2193)AAG>ATG		cullin 3							97.0	89.0	92.0					2																	225339077		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225339077T>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.2192A>T	2.37:g.225339077T>A	ENSP00000264414:p.Lys731Met					CUL3_uc010zls.1_Missense_Mutation_p.K665M|CUL3_uc010fwy.1_Missense_Mutation_p.K737M	p.K731M	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	16	2576	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	731					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.2192A>T	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.52|14.52	2.558741|2.558741	0.45590|0.45590	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000451538|ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	.|T;T;T;T	.|0.75154	.|-0.6;-0.33;-0.91;-0.91	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	.|0.051152	.|0.85682	.|D	.|0.000000	D|D	0.87696|0.87696	0.6242|0.6242	M|M	0.86420|0.86420	2.815|2.815	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D;D	.|0.62365	.|0.991;0.973;0.973	.|P;P;D	.|0.74348	.|0.878;0.828;0.983	D|D	0.89393|0.89393	0.3690|0.3690	5|10	.|0.59425	.|D	.|0.04	.|.	15.8688|15.8688	0.79091|0.79091	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|665;709;731	.|Q13618-3;Q53S54;Q13618	.|.;.;CUL3_HUMAN	D|M	73|731;665;707;707	.|ENSP00000264414:K731M;ENSP00000343601:K665M;ENSP00000387200:K707M;ENSP00000386525:K707M	.|ENSP00000264414:K731M	E|K	-|-	3|2	2|0	CUL3|CUL3	225047321|225047321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.845000|3.845000	0.55880|0.55880	2.145000|2.145000	0.66743|0.66743	0.533000|0.533000	0.62120|0.62120	GAA|AAG		PASS	0.333	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			58	48	58	48	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227660841	227660841	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:227660841G>T	ENST00000305123.5	-	1	3634	c.2614C>A	c.(2614-2616)Cct>Act	p.P872T	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	872					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.P872T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGGGCCCGAGGTAAGGTGCTG	0.627																																						uc002voh.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(2614-2616)CCT>ACT		insulin receptor substrate 1							28.0	37.0	34.0					2																	227660841		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660841G>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2614C>A	2.37:g.227660841G>T	ENSP00000304895:p.Pro872Thr						p.P872T	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2666	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	872						Missense_Mutation	SNP	ENST00000305123.5	37	c.2614C>A	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384632	0.82792	.	.	ENSG00000169047	ENST00000305123	T	0.70045	-0.45	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.74382	0.3709	L	0.29908	0.895	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.77784	-0.2458	10	0.87932	D	0	-24.3755	17.9781	0.89132	0.0:0.0:1.0:0.0	.	872	P35568	IRS1_HUMAN	T	872	ENSP00000304895:P872T	ENSP00000304895:P872T	P	-	1	0	IRS1	227369085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.330000	0.65899	2.573000	0.86826	0.650000	0.86243	CCT		PASS	0.627	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		17	37	17	37	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228884548	228884549	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:228884548_228884549GG>TT	ENST00000392056.3	-	7	1067_1068	c.1021_1022CC>AA	c.(1021-1023)CCa>AAa	p.P341K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P341K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	341						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.P341T(2)|p.P341K(2)|p.P341Q(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)		AGCATCTTTTGGAATATACAGT	0.421																																						uc002vpq.2																			6	Substitution - Missense(6)		lung(6)	skin(5)|ovary(4)|lung(1)	10						c.(1021-1023)CCA>CAA|c.(1021-1023)CCA>ACA		sphingosine kinase type 1-interacting protein																																				SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884548G>T|g.chr2:228884549G>T		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.1021_1022delinsTT	2.37:g.228884548_228884549delinsTT	ENSP00000375909:p.Pro341Lys					SPHKAP_uc002vpp.2_Missense_Mutation_p.P341Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.P341Q|SPHKAP_uc002vpp.2_Missense_Mutation_p.P341T|SPHKAP_uc010zlx.1_Missense_Mutation_p.P341T	p.P341Q|p.P341T	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	1069|1068	-		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)	341					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1022C>A|c.1021C>A	CCDS46537.1																																																																																				PASS	0.421	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		71|72	374|379	71	374	---	---	---	---
ANKMY1	51281	broad.mit.edu	37	2	241463551	241463551	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr2:241463551T>C	ENST00000272972.3	-	7	1530	c.1316A>G	c.(1315-1317)aAg>aGg	p.K439R	ANKMY1_ENST00000536462.1_Missense_Mutation_p.K251R|ANKMY1_ENST00000403283.1_Missense_Mutation_p.K377R|ANKMY1_ENST00000373318.2_Missense_Mutation_p.K298R|ANKMY1_ENST00000401804.1_Missense_Mutation_p.K528R|ANKMY1_ENST00000391987.1_Missense_Mutation_p.K439R|ANKMY1_ENST00000405002.1_Missense_Mutation_p.K209R|ANKMY1_ENST00000373320.4_Missense_Mutation_p.K209R|ANKMY1_ENST00000361678.4_Missense_Mutation_p.K298R|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405523.3_Missense_Mutation_p.K298R|ANKMY1_ENST00000462004.1_5'Flank	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	439							metal ion binding (GO:0046872)	p.K439R(1)|p.K298R(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AAGGCTGCCCTTCACCAACGG	0.617																																						uc002vyz.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1315-1317)AAG>AGG		ankyrin repeat and MYND domain containing 1							83.0	76.0	78.0					2																	241463551		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241463551T>C	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.1316A>G	2.37:g.241463551T>C	ENSP00000272972:p.Lys439Arg					ANKMY1_uc002vza.1_Missense_Mutation_p.K298R|ANKMY1_uc010fzd.1_Missense_Mutation_p.K528R|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.K298R|ANKMY1_uc002vzd.1_Missense_Mutation_p.K298R|ANKMY1_uc010fze.1_Missense_Mutation_p.K108R|ANKMY1_uc002vze.2_Missense_Mutation_p.K200R	p.K439R	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	7	1545	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	439					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.1316A>G	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	T	5.871	0.344823	0.11126	.	.	ENSG00000144504	ENST00000373318;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002	T;T;T;T;T;T;T;T;T;T	0.55930	2.91;0.51;2.23;0.51;4.38;2.47;0.49;2.28;2.22;2.54	3.63	-3.01	0.05463	Ankyrin repeat-containing domain (1);	1.937810	0.03032	N	0.152270	T	0.29256	0.0728	N	0.05124	-0.11	0.09310	N	1	B;B;B;B;B;B	0.19817	0.001;0.002;0.005;0.0;0.039;0.001	B;B;B;B;B;B	0.12156	0.001;0.002;0.003;0.001;0.007;0.001	T	0.17837	-1.0356	10	0.14252	T	0.57	-43.0618	9.709	0.40233	0.0:0.7022:0.0:0.2978	.	439;251;209;298;298;439	Q4ZFV3;F5H558;Q9P2S6-4;Q6GPI0;Q9P2S6-2;Q9P2S6	.;.;.;.;.;ANKY1_HUMAN	R	298;439;298;439;209;377;528;251;298;209	ENSP00000362415:K298R;ENSP00000272972:K439R;ENSP00000355097:K298R;ENSP00000375847:K439R;ENSP00000362417:K209R;ENSP00000383968:K377R;ENSP00000385887:K528R;ENSP00000444707:K251R;ENSP00000385635:K298R;ENSP00000385145:K209R	ENSP00000272972:K439R	K	-	2	0	ANKMY1	241112224	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.478000	0.06575	-0.663000	0.05331	0.402000	0.26972	AAG		PASS	0.617	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		51	53	51	53	---	---	---	---
TRIM71	131405	broad.mit.edu	37	3	32933223	32933223	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:32933223C>T	ENST00000383763.5	+	4	2590	c.2527C>T	c.(2527-2529)Cgc>Tgc	p.R843C		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	843					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R843C(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAGATGGACCGCCCTTCCGG	0.537																																						uc003cff.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2527-2529)CGC>TGC		tripartite motif-containing 71							127.0	138.0	134.0					3																	32933223		2074	4203	6277	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32933223C>T		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2527C>T	3.37:g.32933223C>T	ENSP00000373272:p.Arg843Cys						p.R843C	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			4	2590	+			843			NHL 6.			Missense_Mutation	SNP	ENST00000383763.5	37	c.2527C>T	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154797	0.78114	.	.	ENSG00000206557	ENST00000383763	T	0.72615	-0.67	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	L	0.45051	1.395	0.80722	D	1	D	0.58620	0.983	P	0.53224	0.721	T	0.72805	-0.4182	10	0.39692	T	0.17	-40.8934	18.4554	0.90718	0.0:1.0:0.0:0.0	.	843	Q2Q1W2	LIN41_HUMAN	C	843	ENSP00000373272:R843C	ENSP00000373272:R843C	R	+	1	0	TRIM71	32908227	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.786000	0.85741	2.692000	0.91855	0.591000	0.81541	CGC		PASS	0.537	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		12	245	12	245	---	---	---	---
UBP1	7342	broad.mit.edu	37	3	33437660	33437660	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:33437660G>A	ENST00000283629.3	-	13	1913	c.1384C>T	c.(1384-1386)Ccc>Tcc	p.P462S	UBP1_ENST00000283628.5_Missense_Mutation_p.P462S|UBP1_ENST00000447368.2_Missense_Mutation_p.P426S|UBP1_ENST00000486388.1_5'UTR	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	462					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P462S(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CTACCATAGGGTGCCCCACTG	0.532																																						uc003cfq.3																			1	Substitution - Missense(1)		lung(1)	kidney(2)	2						c.(1384-1386)CCC>TCC		upstream binding protein 1 (LBP-1a) isoform a							132.0	106.0	115.0					3																	33437660		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33437660G>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.1384C>T	3.37:g.33437660G>A	ENSP00000283629:p.Pro462Ser					FBXL2_uc011axq.1_Intron|FBXL2_uc011axr.1_Intron|UBP1_uc003cfr.3_Missense_Mutation_p.P426S|UBP1_uc010hga.2_Missense_Mutation_p.P462S	p.P462S	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN			13	1914	-			462					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.1384C>T	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	G	4.422	0.078127	0.08485	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.16457	2.34;2.34;2.34	5.4	4.47	0.54385	.	0.356829	0.28964	N	0.013575	T	0.08403	0.0209	N	0.08118	0	0.26676	N	0.971639	B;B	0.19200	0.034;0.002	B;B	0.21708	0.036;0.005	T	0.26608	-1.0098	10	0.21014	T	0.42	-3.855	9.7059	0.40216	0.0:0.1255:0.6835:0.191	.	426;462	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	S	462;426;462	ENSP00000283629:P462S;ENSP00000395558:P426S;ENSP00000283628:P462S	ENSP00000283628:P462S	P	-	1	0	UBP1	33412664	0.756000	0.28383	0.679000	0.29978	0.314000	0.28054	1.842000	0.39250	2.691000	0.91804	0.655000	0.94253	CCC		PASS	0.532	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		121	90	121	90	---	---	---	---
SMARCC1	6599	broad.mit.edu	37	3	47742825	47742825	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:47742825C>A	ENST00000254480.5	-	11	1227	c.1108G>T	c.(1108-1110)Gat>Tat	p.D370Y	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	370					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)	p.D370Y(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCTTCCATATCCTTGGTTAGA	0.368																																						uc003crq.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)	3						c.(1108-1110)GAT>TAT		SWI/SNF-related matrix-associated							193.0	180.0	185.0					3																	47742825		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47742825C>A	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1108G>T	3.37:g.47742825C>A	ENSP00000254480:p.Asp370Tyr					SMARCC1_uc011bbd.1_Missense_Mutation_p.D261Y	p.D370Y	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	11	1226	-			370					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.1108G>T	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800076	0.90538	.	.	ENSG00000173473	ENST00000254480	T	0.42900	0.96	5.62	5.62	0.85841	.	0.123818	0.64402	D	0.000001	T	0.67183	0.2866	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.69654	-0.5087	10	0.87932	D	0	-12.7306	18.6352	0.91376	0.0:1.0:0.0:0.0	.	370	Q92922	SMRC1_HUMAN	Y	370	ENSP00000254480:D370Y	ENSP00000254480:D370Y	D	-	1	0	SMARCC1	47717829	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.941000	0.75922	2.806000	0.96561	0.644000	0.83932	GAT		PASS	0.368	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			103	54	103	54	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62464080	62464080	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:62464080C>T	ENST00000383710.4	-	23	3534	c.3185G>A	c.(3184-3186)gGc>gAc	p.G1062D	CADPS_ENST00000283269.9_Missense_Mutation_p.G1023D|CADPS_ENST00000357948.3_Missense_Mutation_p.G983D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1062	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.G1023D(1)|p.G1062D(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTCTGAGGTGCCTGACCCATT	0.498																																						uc003dll.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(3184-3186)GGC>GAC		Ca2+-dependent secretion activator isoform 1							77.0	73.0	75.0					3																	62464080		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62464080C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3185G>A	3.37:g.62464080C>T	ENSP00000373215:p.Gly1062Asp					CADPS_uc003dlj.1_Missense_Mutation_p.G12D|CADPS_uc003dlk.1_Missense_Mutation_p.G510D|CADPS_uc003dlm.2_Missense_Mutation_p.G1023D|CADPS_uc003dln.2_Missense_Mutation_p.G983D	p.G1062D	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	23	3545	-		Lung SC(41;0.0452)	1062			MHD1.|Interaction with DRD2.		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3185G>A	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.70|12.70	2.017223|2.017223	0.35606|0.35606	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000473635|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.28666	.|1.6;1.6;1.6	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Munc13 homology 1 (1);	.|0.052597	.|0.85682	.|D	.|0.000000	T|T	0.49115|0.49115	0.1538|0.1538	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|P;P;D;P	.|0.89917	.|0.534;0.934;1.0;0.837	.|B;P;D;P	.|0.91635	.|0.373;0.71;0.999;0.454	T|T	0.37314|0.37314	-0.9711|-0.9711	5|10	.|0.62326	.|D	.|0.03	.|.	16.0307|16.0307	0.80574|0.80574	0.0:0.8665:0.1335:0.0|0.0:0.8665:0.1335:0.0	.|.	.|983;1023;1062;1062	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	T|D	49|1062;1062;983;1023	.|ENSP00000373215:G1062D;ENSP00000350632:G983D;ENSP00000283269:G1023D	.|ENSP00000283269:G1023D	A|G	-|-	1|2	0|0	CADPS|CADPS	62439120|62439120	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.005000|4.005000	0.57075|0.57075	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCA|GGC		PASS	0.498	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		28	26	28	26	---	---	---	---
COL8A1	1295	broad.mit.edu	37	3	99514202	99514202	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:99514202G>A	ENST00000261037.3	+	5	1837	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E	COL8A1_ENST00000273342.4_Missense_Mutation_p.G486E	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	486	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)		p.G486E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGAGAGCCAGGAATCCCAGGG	0.627																																						uc003dtg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1456-1458)GGA>GAA		alpha 1 type VIII collagen precursor							14.0	14.0	14.0					3																	99514202		2200	4296	6496	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514202G>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1457G>A	3.37:g.99514202G>A	ENSP00000261037:p.Gly486Glu					COL8A1_uc003dth.1_Missense_Mutation_p.G486E|COL8A1_uc003dti.1_Missense_Mutation_p.G487E	p.G486E	NM_001850	NP_001841	P27658	CO8A1_HUMAN			5	1702	+			486			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.1457G>A	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106283	0.56291	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.97924	-4.61;-4.61	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	H	0.97852	4.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98763	1.0725	10	0.87932	D	0	.	17.849	0.88739	0.0:0.0:1.0:0.0	.	487;486	E7EPK9;P27658	.;CO8A1_HUMAN	E	486	ENSP00000261037:G486E;ENSP00000273342:G486E	ENSP00000261037:G486E	G	+	2	0	COL8A1	100996892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.812000	0.96745	0.557000	0.71058	GGA		PASS	0.627	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		8	28	8	28	---	---	---	---
CBLB	868	broad.mit.edu	37	3	105438956	105438956	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:105438956C>A	ENST00000264122.4	-	10	1663	c.1342G>T	c.(1342-1344)Gac>Tac	p.D448Y	CBLB_ENST00000405772.1_Missense_Mutation_p.D448Y|CBLB_ENST00000403724.1_Missense_Mutation_p.D448Y|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000394027.3_Missense_Mutation_p.D470Y	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	448					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D448Y(1)|p.D448N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TCGTCCAAGTCTAGCATCGGC	0.468			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		2	Substitution - Missense(2)		large_intestine(1)|lung(1)	lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(1342-1344)GAC>TAC		Cas-Br-M (murine) ecotropic retroviral							119.0	100.0	106.0					3																	105438956		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105438956C>A	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1342G>T	3.37:g.105438956C>A	ENSP00000264122:p.Asp448Tyr					CBLB_uc011bhi.1_Missense_Mutation_p.D470Y|CBLB_uc003dwd.1_Missense_Mutation_p.D448Y|CBLB_uc003dwe.1_Missense_Mutation_p.D448Y|CBLB_uc011bhj.1_RNA	p.D448Y	NM_170662	NP_733762	Q13191	CBLB_HUMAN			10	1664	-			448					A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1342G>T	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.955945	0.92726	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.85088	-1.91;-1.92;-1.94;-1.94	5.91	5.91	0.95273	.	0.044779	0.85682	D	0.000000	D	0.92028	0.7474	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.74023	0.921;0.961;0.982	D	0.91926	0.5551	10	0.87932	D	0	-19.8107	20.2956	0.98549	0.0:1.0:0.0:0.0	.	470;448;448	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	Y	448;470;448;448	ENSP00000264122:D448Y;ENSP00000377595:D470Y;ENSP00000384816:D448Y;ENSP00000384938:D448Y	ENSP00000264122:D448Y	D	-	1	0	CBLB	106921646	0.999000	0.42202	1.000000	0.80357	0.855000	0.48748	2.860000	0.48372	2.805000	0.96524	0.460000	0.39030	GAC		PASS	0.468	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		40	103	40	103	---	---	---	---
SNX4	8723	broad.mit.edu	37	3	125216958	125216958	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:125216958C>A	ENST00000251775.4	-	3	368	c.344G>T	c.(343-345)aGc>aTc	p.S115I	SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_5'UTR	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	115	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.S115I(1)		breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TAAAAGGTAGCTTCTCAACAA	0.413																																						uc003eib.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(343-345)AGC>ATC		sorting nexin 4							82.0	82.0	82.0					3																	125216958		2203	4300	6503	SO:0001583	missense	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125216958C>A	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.344G>T	3.37:g.125216958C>A	ENSP00000251775:p.Ser115Ile					SNX4_uc011bkf.1_5'UTR	p.S115I	NM_003794	NP_003785	O95219	SNX4_HUMAN			3	386	-			115			PX.		B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	ENST00000251775.4	37	c.344G>T	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141645	0.37825	.	.	ENSG00000114520	ENST00000251775	T	0.45668	0.89	5.24	2.85	0.33270	Phox homologous domain (5);	0.263958	0.41396	D	0.000897	T	0.39708	0.1088	L	0.58810	1.83	0.80722	D	1	B	0.26041	0.14	B	0.31686	0.134	T	0.23013	-1.0200	10	0.49607	T	0.09	-12.4484	9.6347	0.39800	0.0:0.1417:0.0:0.8583	.	115	O95219	SNX4_HUMAN	I	115	ENSP00000251775:S115I	ENSP00000251775:S115I	S	-	2	0	SNX4	126699648	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.811000	0.27198	0.456000	0.26937	-0.247000	0.11927	AGC		PASS	0.413	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		57	191	57	191	---	---	---	---
COPG1	22820	broad.mit.edu	37	3	128976393	128976393	+	Silent	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:128976393G>A	ENST00000314797.6	+	9	764	c.660G>A	c.(658-660)cgG>cgA	p.R220R		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	220					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.R220R(1)									AGGTCACACGGCATGGCCTTA	0.542																																						uc003els.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(658-660)CGG>CGA		coatomer protein complex, subunit gamma 1							195.0	185.0	189.0					3																	128976393		2203	4300	6503	SO:0001819	synonymous_variant	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128976393G>A	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.660G>A	3.37:g.128976393G>A						COPG_uc010htb.2_Silent_p.R126R	p.R220R	NM_016128	NP_057212	Q9Y678	COPG_HUMAN			9	760	+			220					A8K6M8|B3KMF6|Q54AC4	Silent	SNP	ENST00000314797.6	37	c.660G>A	CCDS33851.1																																																																																				PASS	0.542	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		6	769	6	769	---	---	---	---
SLCO2A1	6578	broad.mit.edu	37	3	133670154	133670154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:133670154C>T	ENST00000310926.4	-	6	1032	c.759G>A	c.(757-759)tgG>tgA	p.W253*	SLCO2A1_ENST00000493729.1_Nonsense_Mutation_p.W177*	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	253					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.W253*(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)	AGGCTCCAATCCATCGGGGGT	0.478																																						uc003eqa.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(757-759)TGG>TGA		solute carrier organic anion transporter family,							79.0	83.0	81.0					3																	133670154		2203	4300	6503	SO:0001587	stop_gained	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133670154C>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.759G>A	3.37:g.133670154C>T	ENSP00000311291:p.Trp253*					SLCO2A1_uc003eqb.3_Nonsense_Mutation_p.W177*|SLCO2A1_uc011blv.1_Intron|SLCO2A1_uc010htw.1_Nonsense_Mutation_p.W85*	p.W253*	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			6	1033	-			253			Extracellular (Potential).		Q86V98|Q8IUN2	Nonsense_Mutation	SNP	ENST00000310926.4	37	c.759G>A	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	34	5.390620	0.95988	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.826	0.88665	0.0:1.0:0.0:0.0	.	.	.	.	X	253;177	.	ENSP00000311291:W253X	W	-	3	0	SLCO2A1	135152844	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.474000	0.81024	2.203000	0.70933	0.514000	0.50259	TGG		PASS	0.478	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		106	136	106	136	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134911504	134911504	+	Missense_Mutation	SNP	T	T	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:134911504T>G	ENST00000398015.3	+	11	2339	c.1969T>G	c.(1969-1971)Tac>Gac	p.Y657D	EPHB1_ENST00000493838.1_Missense_Mutation_p.Y218D	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	657	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.Y657D(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GAAGGCAGGGTACTCGGAGAA	0.547																																						uc003eqt.2																			2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1969-1971)TAC>GAC		ephrin receptor EphB1 precursor							80.0	85.0	83.0					3																	134911504		2194	4299	6493	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134911504T>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1969T>G	3.37:g.134911504T>G	ENSP00000381097:p.Tyr657Asp					EPHB1_uc003equ.2_Missense_Mutation_p.Y218D	p.Y657D	NM_004441	NP_004432	P54762	EPHB1_HUMAN			11	2189	+			657			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1969T>G	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.650696	0.87958	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	D;D	0.82167	-1.58;-1.58	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000006	T	0.77538	0.4145	N	0.01009	-1.055	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86849	0.2022	10	0.87932	D	0	.	15.5089	0.75764	0.0:0.0:0.0:1.0	.	657	P54762	EPHB1_HUMAN	D	657;218	ENSP00000381097:Y657D;ENSP00000419574:Y218D	ENSP00000381097:Y657D	Y	+	1	0	EPHB1	136394194	1.000000	0.71417	0.983000	0.44433	0.992000	0.81027	7.993000	0.88291	2.076000	0.62316	0.459000	0.35465	TAC		PASS	0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		30	119	30	119	---	---	---	---
A4GNT	51146	broad.mit.edu	37	3	137849900	137849900	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:137849900C>A	ENST00000236709.3	-	2	400	c.199G>T	c.(199-201)Gtc>Ttc	p.V67F		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	67					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)	p.V67F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GAACAGGAGACCAAATGGGGT	0.527																																						uc003ers.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(199-201)GTC>TTC		alpha-1,4-N-acetylglucosaminyltransferase							101.0	101.0	101.0					3																	137849900		2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137849900C>A	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.199G>T	3.37:g.137849900C>A	ENSP00000236709:p.Val67Phe						p.V67F	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			2	401	-			67			Lumenal (Potential).		Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.199G>T	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970740	0.34754	.	.	ENSG00000118017	ENST00000236709	T	0.81163	-1.46	5.42	5.42	0.78866	Glycosyltransferase, DXD sugar-binding motif (1);	0.000000	0.46145	D	0.000305	D	0.85336	0.5673	L	0.46157	1.445	0.46113	D	0.998874	D	0.89917	1.0	D	0.91635	0.999	T	0.79369	-0.1832	10	0.07175	T	0.84	-0.6513	19.2281	0.93825	0.0:1.0:0.0:0.0	.	67	Q9UNA3	A4GCT_HUMAN	F	67	ENSP00000236709:V67F	ENSP00000236709:V67F	V	-	1	0	A4GNT	139332590	1.000000	0.71417	0.963000	0.40424	0.303000	0.27691	3.764000	0.55264	2.527000	0.85204	0.561000	0.74099	GTC		PASS	0.527	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		58	205	58	205	---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	142985611	142985611	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:142985611C>A	ENST00000316549.6	-	16	2079	c.1871G>T	c.(1870-1872)gGa>gTa	p.G624V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	624					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.G624V(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCCGAGGTCTCCCTCATAAAT	0.502																																						uc003evn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1870-1872)GGA>GTA		solute carrier family 9 (sodium/hydrogen							140.0	130.0	134.0					3																	142985611		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142985611C>A	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.1871G>T	3.37:g.142985611C>A	ENSP00000320246:p.Gly624Val						p.G624V	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			16	2053	-			624					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1871G>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166900	0.78339	.	.	ENSG00000181804	ENST00000316549	T	0.55052	0.54	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63902	-0.6532	10	0.19590	T	0.45	.	19.8215	0.96599	0.0:1.0:0.0:0.0	.	624	Q8IVB4	SL9A9_HUMAN	V	624	ENSP00000320246:G624V	ENSP00000320246:G624V	G	-	2	0	SLC9A9	144468301	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.317000	0.65822	2.679000	0.91253	0.650000	0.86243	GGA		PASS	0.502	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		115	371	115	371	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128643	147128643	+	Silent	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:147128643C>A	ENST00000282928.4	+	1	1473	c.744C>A	c.(742-744)acC>acA	p.T248T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	248					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T248T(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTTTCAGCACCATGCACGAGC	0.577																																						uc003ewe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(742-744)ACC>ACA		zinc finger protein of the cerebellum 1							98.0	89.0	92.0					3																	147128643		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128643C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.744C>A	3.37:g.147128643C>A							p.T248T	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1463	+			248			C2H2-type 1; atypical.		Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.744C>A	CCDS3136.1																																																																																				PASS	0.577	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		57	141	57	141	---	---	---	---
AADACL2	344752	broad.mit.edu	37	3	151463307	151463307	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:151463307G>C	ENST00000356517.3	+	4	551	c.442G>C	c.(442-444)Gct>Cct	p.A148P		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	148						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.A148P(1)|p.A126P(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTATAGGCTGGCTCCTCAACA	0.353																																						uc003ezc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(442-444)GCT>CCT		arylacetamide deacetylase-like 2 precursor							140.0	156.0	150.0					3																	151463307		2203	4299	6502	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151463307G>C	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.442G>C	3.37:g.151463307G>C	ENSP00000348911:p.Ala148Pro					AADACL2_uc010hvn.2_5'UTR	p.A148P	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	562	+			148					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.442G>C	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459188	0.43634	.	.	ENSG00000197953	ENST00000356517	T	0.33654	1.4	4.71	2.78	0.32641	Alpha/beta hydrolase fold-3 (1);	0.108967	0.64402	D	0.000008	T	0.56761	0.2007	M	0.93939	3.475	0.58432	D	0.999999	P	0.46912	0.886	P	0.51806	0.68	T	0.65191	-0.6228	10	0.62326	D	0.03	-0.3847	8.9439	0.35747	0.0849:0.0:0.7666:0.1485	.	148	Q6P093	ADCL2_HUMAN	P	148	ENSP00000348911:A148P	ENSP00000348911:A148P	A	+	1	0	AADACL2	152945997	1.000000	0.71417	0.997000	0.53966	0.105000	0.19272	3.455000	0.52993	1.351000	0.45789	0.655000	0.94253	GCT		PASS	0.353	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		176	500	176	500	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157034971	157034971	+	Silent	SNP	T	T	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:157034971T>G	ENST00000362010.2	-	10	2062	c.1755A>C	c.(1753-1755)gtA>gtC	p.V585V	VEPH1_ENST00000392833.2_Silent_p.V585V|RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000494885.1_RNA|VEPH1_ENST00000543418.1_Silent_p.V585V|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Silent_p.V585V	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	585						plasma membrane (GO:0005886)		p.V585V(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)			ACAACTTTGCTACACAACTTC	0.398																																						uc003fbj.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|lung(1)	5						c.(1753-1755)GTA>GTC		ventricular zone expressed PH domain homolog 1							135.0	125.0	129.0					3																	157034971		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:157034971T>G	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.1755A>C	3.37:g.157034971T>G						VEPH1_uc003fbk.1_Silent_p.V585V|VEPH1_uc010hvu.1_Silent_p.V585V	p.V585V	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		10	2072	-			585					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.1755A>C	CCDS3179.1																																																																																				PASS	0.398	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		11	346	11	346	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167023679	167023679	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:167023679T>A	ENST00000392766.2	-	17	1817	c.1477A>T	c.(1477-1479)Att>Ttt	p.I493F	ZBBX_ENST00000455345.2_Missense_Mutation_p.I493F|ZBBX_ENST00000307529.5_Missense_Mutation_p.I493F|ZBBX_ENST00000392764.1_Missense_Mutation_p.I464F|ZBBX_ENST00000392767.2_Missense_Mutation_p.I493F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	493						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.I493F(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						ATTTTTTCAATGTCAGAAGAA	0.313																																						uc003fep.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1477-1479)ATT>TTT		zinc finger, B-box domain containing							51.0	46.0	48.0					3																	167023679		1810	4069	5879	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167023679T>A	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.1477A>T	3.37:g.167023679T>A	ENSP00000376519:p.Ile493Phe					ZBBX_uc011bpc.1_Missense_Mutation_p.I493F|ZBBX_uc003feq.2_Missense_Mutation_p.I464F	p.I493F	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			17	1800	-			493					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1477A>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	11.00	1.510409	0.27036	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11169	2.97;2.97;2.99;2.99;2.8	5.4	-6.88	0.01665	.	1.103120	0.06815	N	0.791049	T	0.05593	0.0147	N	0.17082	0.46	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.002	T	0.42224	-0.9464	10	0.34782	T	0.22	1.6307	7.1664	0.25693	0.1134:0.4227:0.0:0.4639	.	493;493	A8MT70-2;A8MT70	.;ZBBX_HUMAN	F	493;493;493;493;464	ENSP00000376519:I493F;ENSP00000376520:I493F;ENSP00000390232:I493F;ENSP00000305065:I493F;ENSP00000376517:I464F	ENSP00000305065:I493F	I	-	1	0	ZBBX	168506373	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.645000	0.02000	-1.425000	0.01997	-0.263000	0.10527	ATT		PASS	0.313	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		30	94	30	94	---	---	---	---
SERPINI1	5274	broad.mit.edu	37	3	167510553	167510553	+	Silent	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:167510553G>A	ENST00000295777.5	+	4	1088	c.657G>A	c.(655-657)caG>caA	p.Q219Q	SERPINI1_ENST00000446050.2_Silent_p.Q219Q	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	219					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q219Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TGATGTATCAGCAAGGAGAAT	0.333																																						uc003ffa.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(655-657)CAG>CAA		neuroserpin precursor							95.0	104.0	101.0					3																	167510553		2203	4300	6503	SO:0001819	synonymous_variant	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167510553G>A	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.657G>A	3.37:g.167510553G>A						SERPINI1_uc003ffb.3_Silent_p.Q219Q	p.Q219Q	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN			4	855	+			219					A8K217|D3DNP1|Q6AHZ4	Silent	SNP	ENST00000295777.5	37	c.657G>A	CCDS3203.1																																																																																				PASS	0.333	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			80	280	80	280	---	---	---	---
MYNN	55892	broad.mit.edu	37	3	169492342	169492342	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:169492342C>A	ENST00000349841.5	+	2	922	c.259C>A	c.(259-261)Ctt>Att	p.L87I	MYNN_ENST00000356716.4_Missense_Mutation_p.L87I|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000392733.1_Missense_Mutation_p.L87I|RP11-816J6.3_ENST00000602879.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.L87I	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	87	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L87I(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AACTTTAAATCTTGACAGGTA	0.343																																						uc003fft.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(259-261)CTT>ATT		myoneurin							80.0	85.0	83.0					3																	169492342		2203	4298	6501	SO:0001583	missense	55892					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:169492342C>A	AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.259C>A	3.37:g.169492342C>A	ENSP00000326240:p.Leu87Ile					MYNN_uc011bpm.1_Intron|MYNN_uc003ffu.2_Missense_Mutation_p.L87I|MYNN_uc003ffv.2_5'UTR|MYNN_uc010hwo.2_Missense_Mutation_p.L87I	p.L87I	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		2	688	+	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		87			BTB.		B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	c.259C>A	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103160	0.76983	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.5	5.5	0.81552	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.197031	0.36002	N	0.002841	T	0.72771	0.3502	L	0.28608	0.87	0.35715	D	0.816688	P;B	0.35348	0.496;0.254	P;P	0.51999	0.687;0.567	T	0.79773	-0.1662	10	0.72032	D	0.01	.	12.7085	0.57076	0.0:0.925:0.0:0.075	.	87;87	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	I	87	ENSP00000349150:L87I;ENSP00000326240:L87I;ENSP00000376492:L87I;ENSP00000440637:L87I	ENSP00000326240:L87I	L	+	1	0	MYNN	170975036	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.297000	0.43593	2.599000	0.87857	0.650000	0.86243	CTT		PASS	0.343	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657		70	551	70	551	---	---	---	---
LRRC15	131578	broad.mit.edu	37	3	194080379	194080379	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:194080379A>T	ENST00000347624.3	-	2	1479	c.1394T>A	c.(1393-1395)aTt>aAt	p.I465N	LRRC15_ENST00000439944.2_Missense_Mutation_p.I471N|LRRC15_ENST00000428839.1_Missense_Mutation_p.I471N	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	465	LRRCT.				negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)	p.I465N(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ATTGATGATAATGAGGGACTG	0.557																																						uc003ftu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1393-1395)ATT>AAT		leucine rich repeat containing 15 isoform b							131.0	114.0	120.0					3																	194080379		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080379A>T	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1394T>A	3.37:g.194080379A>T	ENSP00000306276:p.Ile465Asn					LRRC15_uc003ftt.2_Missense_Mutation_p.I471N	p.I465N	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1480	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		465			LRRCT.|Extracellular (Potential).		Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1394T>A	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	A	2.679	-0.275877	0.05679	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.57436	0.4;0.43;0.43	5.24	2.86	0.33363	Cysteine-rich flanking region, C-terminal (1);	0.742997	0.11971	N	0.511739	T	0.37210	0.0995	L	0.28115	0.83	0.09310	N	1	B;P	0.35656	0.002;0.514	B;B	0.35607	0.002;0.206	T	0.14200	-1.0481	10	0.27785	T	0.31	.	7.8937	0.29693	0.8327:0.0:0.1673:0.0	.	465;471	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	N	465;471;471	ENSP00000306276:I465N;ENSP00000389128:I471N;ENSP00000413707:I471N	ENSP00000306276:I465N	I	-	2	0	LRRC15	195561674	0.001000	0.12720	0.082000	0.20525	0.035000	0.12851	1.291000	0.33330	0.409000	0.25649	-0.250000	0.11733	ATT		PASS	0.557	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			25	35	25	35	---	---	---	---
FYTTD1	84248	broad.mit.edu	37	3	197503814	197503814	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr3:197503814A>T	ENST00000241502.4	+	7	895	c.673A>T	c.(673-675)Aca>Tca	p.T225S	FYTTD1_ENST00000424384.2_Missense_Mutation_p.T158S|FYTTD1_ENST00000415708.2_Missense_Mutation_p.T199S|FYTTD1_ENST00000428395.2_Missense_Mutation_p.T134S	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	225					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.T225S(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	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;0.175)		GACTTCCACCACAAATGGAGG	0.303																																						uc003fyi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(673-675)ACA>TCA		forty-two-three domain containing 1 isoform 1							107.0	96.0	100.0					3																	197503814		2203	4300	6503	SO:0001583	missense	84248				mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	g.chr3:197503814A>T	AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"""UAP56-interacting factor"""					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.673A>T	3.37:g.197503814A>T	ENSP00000241502:p.Thr225Ser					FYTTD1_uc011bui.1_Missense_Mutation_p.T199S|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_Missense_Mutation_p.T158S	p.T225S	NM_032288	NP_115664	Q96QD9	UIF_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;0.175)	7	892	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	225					A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Missense_Mutation	SNP	ENST00000241502.4	37	c.673A>T	CCDS3329.1	.	.	.	.	.	.	.	.	.	.	A	17.81	3.481047	0.63849	.	.	ENSG00000122068	ENST00000428738;ENST00000415708;ENST00000428395;ENST00000241502;ENST00000424384	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.6	5.6	0.85130	.	0.209933	0.48767	D	0.000163	T	0.52901	0.1763	L	0.31207	0.915	0.39513	D	0.968397	D;D	0.71674	0.998;0.997	D;D	0.77004	0.987;0.989	T	0.45789	-0.9237	10	0.09084	T	0.74	-6.4354	14.7211	0.69308	1.0:0.0:0.0:0.0	.	199;225	Q96QD9-2;Q96QD9	.;UIF_HUMAN	S	158;199;134;225;158	ENSP00000399896:T158S;ENSP00000393746:T199S;ENSP00000391157:T134S;ENSP00000241502:T225S;ENSP00000394631:T158S	ENSP00000241502:T225S	T	+	1	0	FYTTD1	198988211	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.019000	0.64060	2.275000	0.75901	0.524000	0.50904	ACA		PASS	0.303	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288		77	198	77	198	---	---	---	---
HTRA3	94031	broad.mit.edu	37	4	8271847	8271847	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr4:8271847G>T	ENST00000307358.2	+	1	356	c.152G>T	c.(151-153)tGc>tTc	p.C51F	HTRA3_ENST00000382512.3_Missense_Mutation_p.C51F	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	51	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.C51F(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TGCAACTGCTGCCTGGTGTGC	0.771																																						uc003gla.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(151-153)TGC>TTC		HtrA serine peptidase 3 precursor							6.0	6.0	6.0					4																	8271847		1609	3339	4948	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8271847G>T	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.152G>T	4.37:g.8271847G>T	ENSP00000303766:p.Cys51Phe					HTRA3_uc003gkz.2_Missense_Mutation_p.C51F	p.C51F	NM_053044	NP_444272	P83110	HTRA3_HUMAN			1	356	+			51			IGFBP N-terminal.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.152G>T	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040479	0.35989	.	.	ENSG00000170801	ENST00000307358;ENST00000382512	T;T	0.78364	-1.17;-1.17	3.3	1.43	0.22495	Insulin-like growth factor-binding protein, IGFBP (2);	0.130596	0.53938	U	0.000055	D	0.89111	0.6622	H	0.94423	3.535	0.50171	D	0.999853	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87248	0.2271	10	0.87932	D	0	-8.8071	8.1608	0.31198	0.0:0.1737:0.6465:0.1797	.	51;51	P83110;P83110-2	HTRA3_HUMAN;.	F	51	ENSP00000303766:C51F;ENSP00000371952:C51F	ENSP00000303766:C51F	C	+	2	0	HTRA3	8322747	1.000000	0.71417	0.993000	0.49108	0.007000	0.05969	8.449000	0.90337	0.096000	0.17463	-0.494000	0.04653	TGC		PASS	0.771	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		10	6	10	6	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22390767	22390767	+	Silent	SNP	G	G	A	rs138178541	byFrequency	TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr4:22390767G>A	ENST00000334304.5	-	18	2936	c.2667C>T	c.(2665-2667)tgC>tgT	p.C889C	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	889					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.C889C(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CAGTTATGCCGCAAACAATGA	0.423																																						uc003gqm.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2665-2667)TGC>TGT		G protein-coupled receptor 125 precursor		G		2,4404	4.2+/-10.8	0,2,2201	200.0	204.0	203.0		2667	-1.1	0.7	4	dbSNP_134	203	0,8600		0,0,4300	no	coding-synonymous	GPR125	NM_145290.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		889/1322	22390767	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390767G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2667C>T	4.37:g.22390767G>A						GPR125_uc010ieo.1_Silent_p.C745C|GPR125_uc003gql.1_Silent_p.C16C	p.C889C	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			18	2932	-		Breast(46;0.198)	889			Helical; Name=4; (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2667C>T	CCDS33964.1																																																																																				PASS	0.423	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			5	432	5	432	---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42895576	42895576	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr4:42895576A>G	ENST00000399770.2	+	1	293	c.293A>G	c.(292-294)aAc>aGc	p.N98S	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	98					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.N98S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AGAAGAGTCAACATTTTAAGC	0.428																																						uc003gwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(292-294)AAC>AGC		glutaredoxin, cysteine rich 1							122.0	126.0	125.0					4																	42895576		1981	4163	6144	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895576A>G		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.293A>G	4.37:g.42895576A>G	ENSP00000382670:p.Asn98Ser						p.N98S	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			1	293	+			98						Missense_Mutation	SNP	ENST00000399770.2	37	c.293A>G	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808290	0.70797	.	.	ENSG00000215203	ENST00000399770	T	0.37584	1.19	5.87	5.87	0.94306	.	0.000000	0.85682	U	0.000000	T	0.28300	0.0699	L	0.36672	1.1	0.51767	D	0.999937	P	0.46784	0.884	B	0.40165	0.321	T	0.05683	-1.0870	10	0.10636	T	0.68	-6.8271	15.4474	0.75240	1.0:0.0:0.0:0.0	.	98	A8MXD5	GRCR1_HUMAN	S	98	ENSP00000382670:N98S	ENSP00000382670:N98S	N	+	2	0	GRXCR1	42590333	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	8.956000	0.93066	2.247000	0.74100	0.528000	0.53228	AAC		PASS	0.428	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		147	119	147	119	---	---	---	---
LRRC66	339977	broad.mit.edu	37	4	52861681	52861681	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr4:52861681C>A	ENST00000343457.3	-	4	1513	c.1507G>T	c.(1507-1509)Ggt>Tgt	p.G503C		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	503						integral component of membrane (GO:0016021)		p.G503C(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TAGACTGCACCATCATTTCCA	0.522																																						uc003gzi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1507-1509)GGT>TGT		leucine rich repeat containing 66							99.0	108.0	105.0					4																	52861681		2116	4223	6339	SO:0001583	missense	339977					integral to membrane		g.chr4:52861681C>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1507G>T	4.37:g.52861681C>A	ENSP00000341944:p.Gly503Cys						p.G503C	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1520	-			503						Missense_Mutation	SNP	ENST00000343457.3	37	c.1507G>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437466	0.25900	.	.	ENSG00000188993	ENST00000343457	D	0.81659	-1.52	4.05	-8.09	0.01090	.	3.490500	0.00757	N	0.001111	T	0.60274	0.2256	N	0.14661	0.345	0.09310	N	1	B	0.22480	0.07	B	0.25405	0.06	T	0.50717	-0.8795	10	0.56958	D	0.05	16.8083	0.6565	0.00835	0.3414:0.2604:0.2308:0.1675	.	503	Q68CR7	LRC66_HUMAN	C	503	ENSP00000341944:G503C	ENSP00000341944:G503C	G	-	1	0	LRRC66	52556438	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.412000	0.01039	-1.976000	0.00996	-1.583000	0.00853	GGT		PASS	0.522	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		104	93	104	93	---	---	---	---
NOA1	84273	broad.mit.edu	37	4	57842861	57842861	+	Silent	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr4:57842861C>A	ENST00000264230.4	-	1	2128	c.891G>T	c.(889-891)ggG>ggT	p.G297G	POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000381227.1_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	297	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.G297G(1)									TCGGATTCTCCCCGTCCTGTG	0.677																																						uc003hck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(889-891)GGG>GGT		hypothetical protein LOC84273							39.0	39.0	39.0					4																	57842861		2203	4300	6503	SO:0001819	synonymous_variant	84273						GTP binding	g.chr4:57842861C>A	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.891G>T	4.37:g.57842861C>A						POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	p.G297G	NM_032313	NP_115689	Q8NC60	CD014_HUMAN			1	966	-	Glioma(25;0.08)|all_neural(26;0.181)		297					Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	c.891G>T	CCDS3510.1																																																																																				PASS	0.677	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		28	18	28	18	---	---	---	---
TECRL	253017	broad.mit.edu	37	4	65188413	65188413	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr4:65188413C>G	ENST00000381210.3	-	4	539	c.429G>C	c.(427-429)tgG>tgC	p.W143C	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.W143C	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	143					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.W143C(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TTACTGTGGTCCAACTGACTT	0.343																																						uc003hcv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)TGG>TGC		steroid 5 alpha-reductase 2-like 2							70.0	69.0	69.0					4																	65188413		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65188413C>G	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.429G>C	4.37:g.65188413C>G	ENSP00000370607:p.Trp143Cys					TECRL_uc003hcw.2_Missense_Mutation_p.W143C	p.W143C	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			4	538	-			143			Helical; (Potential).			Missense_Mutation	SNP	ENST00000381210.3	37	c.429G>C	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080407	0.36662	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.41758	0.99;0.99;0.99	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.71626	0.3362	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.956	T	0.77816	-0.2447	10	0.87932	D	0	-4.9312	15.4919	0.75611	0.0:1.0:0.0:0.0	.	143;143	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	C	143	ENSP00000426043:W143C;ENSP00000370607:W143C;ENSP00000422497:W143C	ENSP00000370607:W143C	W	-	3	0	TECRL	64871008	1.000000	0.71417	0.999000	0.59377	0.029000	0.11900	4.729000	0.62008	2.728000	0.93425	0.585000	0.79938	TGG		PASS	0.343	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		30	20	30	20	---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158242640	158242640	+	Silent	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr4:158242640C>G	ENST00000264426.9	+	6	1050	c.771C>G	c.(769-771)gtC>gtG	p.V257V	GRIA2_ENST00000449365.1_Silent_p.V210V|GRIA2_ENST00000393815.2_Silent_p.V210V|GRIA2_ENST00000296526.7_Silent_p.V257V|GRIA2_ENST00000507898.1_Silent_p.V210V	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	257					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	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)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	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.V257V(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTGCAAATGTCTCTGGATTTC	0.363																																						uc003ipm.3																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(769-771)GTC>GTG		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						197.0	206.0	203.0					4																	158242640		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158242640C>G		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.771C>G	4.37:g.158242640C>G						GRIA2_uc011cit.1_Silent_p.V210V|GRIA2_uc003ipl.3_Silent_p.V257V|GRIA2_uc003ipk.3_Silent_p.V210V|GRIA2_uc010iqh.1_RNA	p.V257V	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	6	1230	+	all_hematologic(180;0.24)	Renal(120;0.0458)	257			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.771C>G	CCDS43274.1																																																																																				PASS	0.363	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			166	120	166	120	---	---	---	---
IRX4	50805	broad.mit.edu	37	5	1879718	1879718	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:1879718G>T	ENST00000505790.1	-	5	1092	c.636C>A	c.(634-636)aaC>aaA	p.N212K	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.N212K|IRX4_ENST00000231357.2_Missense_Mutation_p.N212K	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	212					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.N212K(1)		endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CTGCGCACTTGTTCCGCGGCG	0.662																																						uc003jcz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)AAC>AAA		iroquois homeobox 4							55.0	50.0	52.0					5																	1879718		2203	4300	6503	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879718G>T	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.636C>A	5.37:g.1879718G>T	ENSP00000423161:p.Asn212Lys					IRX4_uc011cmf.1_Missense_Mutation_p.N73K	p.N212K	NM_016358	NP_057442	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	4	755	-			212					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.636C>A	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568602	0.45798	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	T;T;T	0.71103	-0.54;-0.54;-0.54	4.17	2.28	0.28536	.	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	L	0.58510	1.815	0.58432	D	0.999996	D	0.71674	0.998	D	0.78314	0.991	T	0.77544	-0.2548	10	0.66056	D	0.02	-29.7524	8.974	0.35924	0.1996:0.0:0.8004:0.0	.	212	P78413	IRX4_HUMAN	K	212	ENSP00000231357:N212K;ENSP00000423161:N212K;ENSP00000424235:N212K	ENSP00000231357:N212K	N	-	3	2	IRX4	1932718	1.000000	0.71417	0.998000	0.56505	0.732000	0.41865	2.450000	0.44943	0.939000	0.37446	0.462000	0.41574	AAC		PASS	0.662	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		24	67	24	67	---	---	---	---
NSUN2	54888	broad.mit.edu	37	5	6616870	6616870	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:6616870C>G	ENST00000264670.6	-	9	1302	c.991G>C	c.(991-993)Gtc>Ctc	p.V331L	NSUN2_ENST00000506139.1_Missense_Mutation_p.V296L|NSUN2_ENST00000539938.1_Missense_Mutation_p.V95L	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	331					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.V331L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GATGCTATGACTGCTTCATCC	0.448																																						uc003jdu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(991-993)GTC>CTC		NOL1/NOP2/Sun domain family, member 2							145.0	130.0	135.0					5																	6616870		2203	4300	6503	SO:0001583	missense	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6616870C>G	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.991G>C	5.37:g.6616870C>G	ENSP00000264670:p.Val331Leu					NSUN2_uc003jdt.2_Missense_Mutation_p.V95L|NSUN2_uc011cmk.1_Missense_Mutation_p.V296L|NSUN2_uc003jdv.2_Missense_Mutation_p.V95L	p.V331L	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			9	1056	-			331					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	c.991G>C	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429740	0.83776	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.27557	1.66;1.66;1.66	5.56	4.68	0.58851	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	M	0.86268	2.805	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.73380	0.961;0.98	T	0.69764	-0.5057	10	0.87932	D	0	-39.2289	16.8098	0.85716	0.0:0.8712:0.1288:0.0	.	296;331	B4DQW2;Q08J23	.;NSUN2_HUMAN	L	331;95;296	ENSP00000264670:V331L;ENSP00000444338:V95L;ENSP00000420957:V296L	ENSP00000264670:V331L	V	-	1	0	NSUN2	6669870	1.000000	0.71417	0.355000	0.25773	0.743000	0.42351	5.270000	0.65547	1.479000	0.48272	0.650000	0.86243	GTC		PASS	0.448	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		79	212	79	212	---	---	---	---
TAS2R1	50834	broad.mit.edu	37	5	9629613	9629613	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:9629613A>T	ENST00000382492.2	-	1	850	c.532T>A	c.(532-534)Tct>Act	p.S178T	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	178					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.S178T(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GCAACAAAAGAGAAAATCTGT	0.403																																						uc003jem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(532-534)TCT>ACT		taste receptor T2R1							76.0	84.0	81.0					5																	9629613		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629613A>T	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.532T>A	5.37:g.9629613A>T	ENSP00000371932:p.Ser178Thr						p.S178T	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	851	-			178			Extracellular (Potential).		Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.532T>A	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945820	0.34377	.	.	ENSG00000169777	ENST00000382492	T	0.37235	1.21	5.44	-10.9	0.00192	.	2.167190	0.02058	N	0.050529	T	0.16981	0.0408	N	0.25647	0.755	0.09310	N	1	P	0.35821	0.523	B	0.33690	0.168	T	0.18999	-1.0319	9	.	.	.	.	1.6725	0.02814	0.1266:0.2002:0.2702:0.4029	.	178	Q9NYW7	TA2R1_HUMAN	T	178	ENSP00000371932:S178T	.	S	-	1	0	TAS2R1	9682613	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.929000	0.00332	-2.116000	0.00830	0.533000	0.62120	TCT		PASS	0.403	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			115	332	115	332	---	---	---	---
CCT5	22948	broad.mit.edu	37	5	10254914	10254914	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:10254914G>T	ENST00000280326.4	+	3	715	c.295G>T	c.(295-297)Gat>Tat	p.D99Y	CCT5_ENST00000515390.1_Intron|CCT5_ENST00000506600.1_Intron|CCT5_ENST00000515676.1_Missense_Mutation_p.D61Y|CCT5_ENST00000503026.1_Missense_Mutation_p.D78Y	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	99					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)	p.D99Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CAAGTCTCAGGATGATGAAAT	0.428																																						uc003jeq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(295-297)GAT>TAT		chaperonin containing TCP1, subunit 5 (epsilon)							141.0	122.0	129.0					5																	10254914		2203	4300	6503	SO:0001583	missense	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10254914G>T	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.295G>T	5.37:g.10254914G>T	ENSP00000280326:p.Asp99Tyr					CCT5_uc011cmq.1_Intron|CCT5_uc003jer.2_Missense_Mutation_p.D99Y|CCT5_uc010its.2_Missense_Mutation_p.D99Y|CCT5_uc011cmr.1_Intron|CCT5_uc011cms.1_Missense_Mutation_p.D61Y|CCT5_uc011cmt.1_Intron	p.D99Y	NM_012073	NP_036205	P48643	TCPE_HUMAN			3	466	+			99					A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	ENST00000280326.4	37	c.295G>T	CCDS3877.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.052991|5.052991	0.93793|0.93793	.|.	.|.	ENSG00000150753|ENSG00000150753	ENST00000440011|ENST00000280326;ENST00000503026;ENST00000515676	.|T;T;T	.|0.16457	.|2.34;2.34;2.34	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Chaperonin TCP-1, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.68348	.|0.2991	H|H	0.99958|0.99958	5.055|5.055	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	.|D	.|0.85222	.|0.1027	.|10	.|0.87932	.|D	.|0	.|-28.1245	18.761|18.761	0.91851|0.91851	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|97;99;99	.|Q9BU08;A8K2X8;P48643	.|.;.;TCPE_HUMAN	.|Y	-1|99;78;61	.|ENSP00000280326:D99Y;ENSP00000423318:D78Y;ENSP00000427297:D61Y	.|ENSP00000280326:D99Y	.|D	+|+	.|1	.|0	CCT5|CCT5	10307914|10307914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.288000|9.288000	0.96055|0.96055	2.656000|2.656000	0.90262|0.90262	0.644000|0.644000	0.83932|0.83932	.|GAT		PASS	0.428	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			92	300	92	300	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19747071	19747071	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:19747071A>T	ENST00000507958.1	-	6	1493	c.503T>A	c.(502-504)gTg>gAg	p.V168E	CDH18_ENST00000506372.1_Missense_Mutation_p.V168E|CDH18_ENST00000274170.4_Missense_Mutation_p.V168E|CDH18_ENST00000511273.1_Missense_Mutation_p.V168E|CDH18_ENST00000382275.1_Missense_Mutation_p.V168E|CDH18_ENST00000502796.1_Missense_Mutation_p.V168E			Q13634	CAD18_HUMAN	cadherin 18, type 2	168	Cadherin 2. {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.V168E(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)					CATTTCAGGCACAGTAACAAT	0.333																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(502-504)GTG>GAG		cadherin 18, type 2 preproprotein							120.0	118.0	119.0					5																	19747071		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.chr5:19747071A>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.503T>A	5.37:g.19747071A>T	ENSP00000425093:p.Val168Glu					CDH18_uc003jgd.2_Missense_Mutation_p.V168E|CDH18_uc011cnm.1_Missense_Mutation_p.V168E	p.V168E	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	880	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		168			Extracellular (Potential).|Cadherin 2.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.503T>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426938	0.83667	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29	4.88	4.88	0.63580	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.82199	0.4985	H	0.95712	3.71	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87397	0.2367	9	.	.	.	.	13.3065	0.60355	1.0:0.0:0.0:0.0	.	168;168	B4DHG6;Q13634	.;CAD18_HUMAN	E	168;168;168;168;168;168;114;168	ENSP00000371710:V168E;ENSP00000425093:V168E;ENSP00000274170:V168E;ENSP00000424931:V168E;ENSP00000422138:V168E;ENSP00000427383:V114E;ENSP00000425854:V168E	.	V	-	2	0	CDH18	19782828	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.870000	0.92336	1.827000	0.53221	0.482000	0.46254	GTG		PASS	0.333	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		178	187	178	187	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19747228	19747228	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:19747228G>T	ENST00000507958.1	-	6	1336	c.346C>A	c.(346-348)Cta>Ata	p.L116I	CDH18_ENST00000506372.1_Missense_Mutation_p.L116I|CDH18_ENST00000274170.4_Missense_Mutation_p.L116I|CDH18_ENST00000511273.1_Missense_Mutation_p.L116I|CDH18_ENST00000382275.1_Missense_Mutation_p.L116I|CDH18_ENST00000502796.1_Missense_Mutation_p.L116I			Q13634	CAD18_HUMAN	cadherin 18, type 2	116	Cadherin 1. {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.L116I(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)					TCTCTGTCTAGGCTTTTTGTT	0.438																																						uc003jgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(346-348)CTA>ATA		cadherin 18, type 2 preproprotein							238.0	212.0	221.0					5																	19747228		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.chr5:19747228G>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.346C>A	5.37:g.19747228G>T	ENSP00000425093:p.Leu116Ile					CDH18_uc003jgd.2_Missense_Mutation_p.L116I|CDH18_uc011cnm.1_Missense_Mutation_p.L116I	p.L116I	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	723	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		116			Extracellular (Potential).|Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.346C>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999810	0.74818	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	5.23	4.36	0.52297	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.87653	0.6231	M	0.90309	3.105	0.47476	D	0.999433	D;D	0.89917	0.998;1.0	D;D	0.97110	1.0;1.0	D	0.89308	0.3631	9	.	.	.	.	12.5025	0.55964	0.0817:0.0:0.9183:0.0	.	116;116	B4DHG6;Q13634	.;CAD18_HUMAN	I	116;116;116;116;116;116;62;116	ENSP00000371710:L116I;ENSP00000425093:L116I;ENSP00000274170:L116I;ENSP00000424931:L116I;ENSP00000422138:L116I;ENSP00000427383:L62I;ENSP00000425854:L116I	.	L	-	1	2	CDH18	19782985	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	4.565000	0.60836	1.211000	0.43351	-0.229000	0.12294	CTA		PASS	0.438	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		123	418	123	418	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21975332	21975332	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:21975332C>G	ENST00000382254.1	-	6	1480	c.394G>C	c.(394-396)Gtg>Ctg	p.V132L	CDH12_ENST00000522262.1_Missense_Mutation_p.V132L|CDH12_ENST00000504376.2_Missense_Mutation_p.V132L	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	132	Cadherin 1. {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.V132L(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						TCTATGTCCACAGCCTGAGCA	0.428										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(394-396)GTG>CTG		cadherin 12, type 2 preproprotein							52.0	51.0	51.0					5																	21975332		2042	3860	5902	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975332C>G	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.394G>C	5.37:g.21975332C>G	ENSP00000371689:p.Val132Leu	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.V132L|CDH12_uc003jgk.2_Missense_Mutation_p.V132L	p.V132L	NM_004061	NP_004052	P55289	CAD12_HUMAN			3	852	-			132			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.394G>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113056	0.37242	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.51071	0.72;0.72;0.72	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.56804	0.2010	L	0.31157	0.91	0.58432	D	0.999998	B;D	0.54397	0.011;0.966	B;D	0.70016	0.05;0.967	T	0.50162	-0.8860	10	0.22109	T	0.4	.	18.6264	0.91340	0.0:1.0:0.0:0.0	.	132;132	B7Z2U6;P55289	.;CAD12_HUMAN	L	132	ENSP00000423577:V132L;ENSP00000371689:V132L;ENSP00000428786:V132L	ENSP00000371689:V132L	V	-	1	0	CDH12	22011089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.745000	0.55119	2.414000	0.81942	0.484000	0.47621	GTG		PASS	0.428	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		92	243	92	243	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24488134	24488134	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:24488134C>A	ENST00000264463.4	-	12	2512	c.2005G>T	c.(2005-2007)Gcc>Tcc	p.A669S	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	669					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A669S(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATATCAAAGGCCTGGGTGTCC	0.463										HNSCC(23;0.051)																												uc003jgr.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(4)|breast(2)	12						c.(2005-2007)GCC>TCC		cadherin 10, type 2 preproprotein							63.0	66.0	65.0					5																	24488134		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24488134C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2005G>T	5.37:g.24488134C>A	ENSP00000264463:p.Ala669Ser	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.A669S	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2337	-			669			Cytoplasmic (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2005G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623427	0.87460	.	.	ENSG00000040731	ENST00000264463	T	0.79454	-1.27	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.88396	0.6425	M	0.78049	2.395	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	D	0.88309	0.2955	10	0.49607	T	0.09	.	18.2978	0.90153	0.0:1.0:0.0:0.0	.	669	Q9Y6N8	CAD10_HUMAN	S	669	ENSP00000264463:A669S	ENSP00000264463:A669S	A	-	1	0	CDH10	24523891	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.657000	0.83745	2.580000	0.87095	0.655000	0.94253	GCC		PASS	0.463	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		55	186	55	186	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26915908	26915908	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:26915908C>A	ENST00000231021.4	-	3	525	c.353G>T	c.(352-354)aGa>aTa	p.R118I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	118	Cadherin 1. {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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R118I(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTTCTTCTCTGTCTAGTTT	0.383																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(352-354)AGA>ATA		cadherin 9, type 2 preproprotein							147.0	149.0	149.0					5																	26915908		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915908C>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.353G>T	5.37:g.26915908C>A	ENSP00000231021:p.Arg118Ile					CDH9_uc010iug.2_Missense_Mutation_p.R118I	p.R118I	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	522	-			118			Extracellular (Potential).|Cadherin 1.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.353G>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939963	0.92526	.	.	ENSG00000113100	ENST00000231021;ENST00000513289	T;T	0.59906	0.23;0.23	4.62	4.62	0.57501	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85775	0.5775	H	0.98721	4.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91929	0.5553	9	.	.	.	.	16.4099	0.83704	0.0:1.0:0.0:0.0	.	118;118	E7EPN0;Q9ULB4	.;CADH9_HUMAN	I	118	ENSP00000231021:R118I;ENSP00000426239:R118I	.	R	-	2	0	CDH9	26951665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.361000	0.79497	2.275000	0.75901	0.585000	0.79938	AGA		PASS	0.383	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		6	639	6	639	---	---	---	---
C5orf22	55322	broad.mit.edu	37	5	31551433	31551433	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:31551433G>C	ENST00000325366.9	+	8	1220	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	C5orf22_ENST00000355907.3_Missense_Mutation_p.E86Q|C5orf22_ENST00000504866.1_3'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	365								p.E365Q(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CGATTATTCAGAACTTCCTCA	0.323																																						uc003jhj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1093-1095)GAA>CAA		hypothetical protein LOC55322							122.0	116.0	118.0					5																	31551433		2203	4300	6503	SO:0001583	missense	55322							g.chr5:31551433G>C	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.1093G>C	5.37:g.31551433G>C	ENSP00000326879:p.Glu365Gln					C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_Missense_Mutation_p.E100Q|C5orf22_uc010iuj.2_Missense_Mutation_p.E100Q	p.E365Q	NM_018356	NP_060826	Q49AR2	CE022_HUMAN			8	1220	+			365					Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	c.1093G>C	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223475	0.58668	.	.	ENSG00000082213	ENST00000325366;ENST00000355907;ENST00000543911	T;T	0.50277	1.37;0.75	5.52	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	L	0.61036	1.89	0.54753	D	0.999987	P;P	0.48350	0.909;0.64	P;B	0.50791	0.65;0.189	T	0.62431	-0.6856	10	0.72032	D	0.01	-15.4904	16.0789	0.80985	0.0:0.1336:0.8664:0.0	.	86;365	Q49AR2-3;Q49AR2	.;CE022_HUMAN	Q	365;86;100	ENSP00000326879:E365Q;ENSP00000348171:E86Q	ENSP00000326879:E365Q	E	+	1	0	C5orf22	31587190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.328000	0.72915	2.612000	0.88384	0.655000	0.94253	GAA		PASS	0.323	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		83	225	83	225	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43628327	43628327	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:43628327T>A	ENST00000264663.5	+	7	1023	c.802T>A	c.(802-804)Tct>Act	p.S268T	NNT_ENST00000512996.2_Missense_Mutation_p.S137T|NNT_ENST00000344920.4_Missense_Mutation_p.S268T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	268					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.S268T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ACAGTTCAAGTCTCTTGGTGC	0.418																																						uc003joe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(802-804)TCT>ACT		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						117.0	119.0	119.0					5																	43628327		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43628327T>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.802T>A	5.37:g.43628327T>A	ENSP00000264663:p.Ser268Thr					NNT_uc003jof.2_Missense_Mutation_p.S268T	p.S268T	NM_012343	NP_036475	Q13423	NNTM_HUMAN			7	1057	+	Lung NSC(6;2.58e-06)		268			Mitochondrial matrix.		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.802T>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.649278	0.87958	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.83163	-1.69;-1.69;-1.69	5.91	4.68	0.58851	Alanine dehydrogenase/PNT, C-terminal (1);	0.098042	0.64402	D	0.000001	D	0.90645	0.7066	H	0.95679	3.705	0.51233	D	0.999912	B	0.31256	0.316	B	0.44108	0.441	D	0.91946	0.5567	10	0.87932	D	0	-17.5113	12.0474	0.53487	0.1291:0.0:0.0:0.8709	.	268	Q13423	NNTM_HUMAN	T	268;268;137	ENSP00000264663:S268T;ENSP00000343873:S268T;ENSP00000426343:S137T	ENSP00000264663:S268T	S	+	1	0	NNT	43664084	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.761000	0.62243	2.263000	0.75096	0.377000	0.23210	TCT		PASS	0.418	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		168	409	168	409	---	---	---	---
FAM170A	340069	broad.mit.edu	37	5	118970272	118970272	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:118970272C>G	ENST00000515256.1	+	3	1001	c.829C>G	c.(829-831)Caa>Gaa	p.Q277E				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	277	Glu-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q277E(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						AGAGAGCACCCaagatgagca	0.537																																						uc003ksm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(829-831)CAA>GAA		family with sequence similarity 170, member A							103.0	115.0	111.0					5																	118970272		2047	4205	6252	SO:0001583	missense	340069					intracellular	zinc ion binding	g.chr5:118970272C>G	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.829C>G	5.37:g.118970272C>G	ENSP00000422684:p.Gln277Glu					FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.Q277E|FAM170A_uc003kso.2_Missense_Mutation_p.Q230E	p.Q277E	NM_182761	NP_877438	A1A519	F170A_HUMAN			3	1039	+			277			Glu-rich.		Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37	c.829C>G		.	.	.	.	.	.	.	.	.	.	C	0.065	-1.213880	0.01555	.	.	ENSG00000164334	ENST00000515256	T	0.30714	1.52	4.59	2.8	0.32819	.	0.242590	0.29814	N	0.011123	T	0.23926	0.0579	L	0.44542	1.39	0.09310	N	1	P;P	0.35872	0.525;0.525	B;B	0.38500	0.275;0.275	T	0.08868	-1.0701	9	.	.	.	-0.8335	5.9484	0.19232	0.1865:0.7177:0.0:0.0958	.	230;277	D6RIE9;A1A519	.;F170A_HUMAN	E	277	ENSP00000422684:Q277E	.	Q	+	1	0	FAM170A	118998171	0.006000	0.16342	0.048000	0.18961	0.009000	0.06853	0.688000	0.25422	0.851000	0.35264	0.655000	0.94253	CAA		PASS	0.537	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		163	159	163	159	---	---	---	---
IL9	3578	broad.mit.edu	37	5	135229765	135229765	+	Silent	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:135229765G>A	ENST00000274520.1	-	4	269	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	87					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)		p.L87L(1)		large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGAAAATCAGTGGGTATCTT	0.388																																						uc003lbb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)CTG>TTG		interleukin 9 precursor							167.0	151.0	156.0					5																	135229765		2203	4300	6503	SO:0001819	synonymous_variant	3578				immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity	g.chr5:135229765G>A	S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"""Interleukins and interleukin receptors"""	6029	protein-coding gene	gene with protein product	"""p40 T-cell and mast cell growth factor"", ""T-cell growth factor p40"", ""p40 cytokine"", ""homolog of mouse T cell and mast cell growth factor 40"""	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.259C>T	5.37:g.135229765G>A							p.L87L	NM_000590	NP_000581	P15248	IL9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	270	-			87						Silent	SNP	ENST00000274520.1	37	c.259C>T	CCDS4189.1																																																																																				PASS	0.388	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251210.1	NM_000590		71	46	71	46	---	---	---	---
TMEM173	340061	broad.mit.edu	37	5	138857016	138857016	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:138857016C>A	ENST00000330794.4	-	7	1177	c.844G>T	c.(844-846)Gag>Tag	p.E282*	TMEM173_ENST00000511850.1_5'Flank	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	282	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)	p.E282*(1)		endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCCTATCCTCCCGGCTAAAG	0.562																																						uc003lep.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(844-846)GAG>TAG		transmembrane protein 173							89.0	85.0	86.0					5																	138857016		2203	4300	6503	SO:0001587	stop_gained	340061				activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding	g.chr5:138857016C>A		CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.844G>T	5.37:g.138857016C>A	ENSP00000331288:p.Glu282*						p.E282*	NM_198282	NP_938023	Q86WV6	TM173_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		7	1095	-			282			Cytoplasmic (Potential).		A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Nonsense_Mutation	SNP	ENST00000330794.4	37	c.844G>T	CCDS4215.1	.	.	.	.	.	.	.	.	.	.	C	36	5.818955	0.96982	.	.	ENSG00000184584	ENST00000330794	.	.	.	5.6	3.81	0.43845	.	0.409537	0.26987	N	0.021500	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-8.2074	10.1714	0.42913	0.0:0.6721:0.2571:0.0707	.	.	.	.	X	282	.	ENSP00000331288:E282X	E	-	1	0	TMEM173	138837200	0.774000	0.28592	0.996000	0.52242	0.705000	0.40729	0.734000	0.26101	0.721000	0.32231	0.561000	0.74099	GAG		PASS	0.562	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251338.1	NM_198282		113	52	113	52	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502219	140502219	+	Silent	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:140502219G>C	ENST00000194152.1	+	1	639	c.639G>C	c.(637-639)gcG>gcC	p.A213A	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A213A(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCGTGGCGCTGGATGGTG	0.512																																						uc003lip.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(637-639)GCG>GCC		protocadherin beta 4 precursor							120.0	110.0	113.0					5																	140502219		2203	4300	6503	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502219G>C	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.639G>C	5.37:g.140502219G>C							p.A213A	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	639	+			213			Cadherin 2.|Extracellular (Potential).		Q4V761	Silent	SNP	ENST00000194152.1	37	c.639G>C	CCDS4246.1																																																																																				PASS	0.512	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		153	67	153	67	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554282	140554282	+	Silent	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:140554282C>T	ENST00000231137.3	+	1	2040	c.1866C>T	c.(1864-1866)ggC>ggT	p.G622G		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	622	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G622G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCACAATGGCGAGGTGCGTA	0.697																																						uc003lit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1864-1866)GGC>GGT		protocadherin beta 7 precursor							38.0	58.0	51.0					5																	140554282		2183	4280	6463	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554282C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1866C>T	5.37:g.140554282C>T							p.G622G	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2040	+			622			Cadherin 6.|Extracellular (Potential).		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1866C>T	CCDS4249.1																																																																																				PASS	0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		6	112	6	112	---	---	---	---
CSNK1A1	1452	broad.mit.edu	37	5	148930407	148930407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr5:148930407C>A	ENST00000377843.2	-	1	600	c.121G>T	c.(121-123)Gag>Tag	p.E41*	CSNK1A1_ENST00000515748.2_Nonsense_Mutation_p.E41*|CSNK1A1_ENST00000504676.1_5'Flank|CSNK1A1_ENST00000515768.1_Nonsense_Mutation_p.E41*|CSNK1A1_ENST00000261798.5_Nonsense_Mutation_p.E41*|CSNK1A1_ENST00000515435.1_5'Flank	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	41	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E41*(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ATGATTACCTCGCCGTTGGTG	0.547																																					Colon(5;64 69 1309 10383)	uc003lqx.1																			2	Substitution - Nonsense(2)		lung(2)	breast(1)	1						c.(121-123)GAG>TAG		casein kinase 1, alpha 1 isoform 2							76.0	86.0	83.0					5																	148930407		2111	4253	6364	SO:0001587	stop_gained	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein binding|protein serine/threonine kinase activity	g.chr5:148930407C>A	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.121G>T	5.37:g.148930407C>A	ENSP00000367074:p.Glu41*					CSNK1A1_uc011dcc.1_5'Flank|CSNK1A1_uc003lqv.1_5'Flank|CSNK1A1_uc003lqw.1_Nonsense_Mutation_p.E41*|CSNK1A1_uc003lqy.1_Nonsense_Mutation_p.E41*|CSNK1A1_uc010jha.1_Nonsense_Mutation_p.E41*	p.E41*	NM_001892	NP_001883	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	1	601	-			41			Protein kinase.		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Nonsense_Mutation	SNP	ENST00000377843.2	37	c.121G>T	CCDS47303.1	.	.	.	.	.	.	.	.	.	.	C	40	7.931633	0.98568	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000322237;ENST00000515768;ENST00000515748	.	.	.	5.08	4.22	0.49857	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.6045	0.62039	0.0:0.9255:0.0:0.0745	.	.	.	.	X	41	.	ENSP00000261798:E41X	E	-	1	0	CSNK1A1	148910600	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.439000	0.80444	1.371000	0.46172	0.561000	0.74099	GAG		PASS	0.547	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892		86	39	86	39	---	---	---	---
BTN3A2	11118	broad.mit.edu	37	6	26368907	26368907	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:26368907G>T	ENST00000356386.2	+	4	388	c.200G>T	c.(199-201)tGg>tTg	p.W67L	BTN3A2_ENST00000508906.2_Missense_Mutation_p.W25L|BTN3A2_ENST00000396948.1_Missense_Mutation_p.W67L|BTN3A2_ENST00000396934.3_Missense_Mutation_p.W44L|BTN3A2_ENST00000527422.1_Missense_Mutation_p.W67L|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000377708.2_Missense_Mutation_p.W67L	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	67	Ig-like V-type.				interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.W67L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GAGCTGAAGTGGGTAAGTTCC	0.562																																						uc010jqh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(199-201)TGG>TTG		butyrophilin, subfamily 3, member A2 precursor							439.0	315.0	357.0					6																	26368907		2202	4298	6500	SO:0001583	missense	11118					integral to membrane		g.chr6:26368907G>T	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.200G>T	6.37:g.26368907G>T	ENSP00000348751:p.Trp67Leu					BTN3A2_uc003nho.1_Missense_Mutation_p.W65L|BTN3A2_uc003nhp.2_Missense_Mutation_p.W67L|BTN3A2_uc011dkd.1_Missense_Mutation_p.W25L|BTN3A2_uc011dke.1_Missense_Mutation_p.W44L|BTN3A2_uc010jqi.1_Missense_Mutation_p.W65L	p.W67L	NM_007047	NP_008978	P78410	BT3A2_HUMAN			4	459	+			67			Ig-like V-type.|Extracellular (Potential).		B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.200G>T	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	17.18	3.323948	0.60634	.	.	ENSG00000186470	ENST00000532865;ENST00000530653;ENST00000527417;ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	D;D;D;D;D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4	3.17	3.17	0.36434	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96470	0.8848	M	0.93550	3.43	0.29376	N	0.863674	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91420	0.5158	9	0.87932	D	0	.	10.5414	0.45035	0.0:0.0:1.0:0.0	.	44;67	F8W6E0;P78410	.;BT3A2_HUMAN	L	25;25;67;67;67;67;44;67;67;25	ENSP00000435952:W25L;ENSP00000434102:W25L;ENSP00000433749:W67L;ENSP00000432138:W67L;ENSP00000348751:W67L;ENSP00000380140:W44L;ENSP00000366937:W67L;ENSP00000380152:W67L;ENSP00000442687:W25L	ENSP00000348751:W67L	W	+	2	0	BTN3A2	26476886	1.000000	0.71417	0.177000	0.23020	0.063000	0.16089	6.094000	0.71431	1.691000	0.51100	0.405000	0.27470	TGG		PASS	0.562	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2			188	468	188	468	---	---	---	---
ZKSCAN8	7745	broad.mit.edu	37	6	28120957	28120957	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:28120957A>G	ENST00000330236.6	+	6	1083	c.899A>G	c.(898-900)gAa>gGa	p.E300G	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.E300G	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	300	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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.E300G(1)									CTTGAGCATGAAGAAGCCCGA	0.483																																						uc003nkn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(898-900)GAA>GGA		zinc finger protein 192							80.0	82.0	81.0					6																	28120957		2203	4300	6503	SO:0001583	missense	7745				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28120957A>G		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.899A>G	6.37:g.28120957A>G	ENSP00000332750:p.Glu300Gly					ZNF192_uc010jqx.1_Missense_Mutation_p.E300G|ZNF192_uc010jqy.1_Missense_Mutation_p.E113G|ZNF192_uc011dkz.1_Missense_Mutation_p.E113G	p.E300G	NM_006298	NP_006289	Q15776	ZN192_HUMAN			6	1083	+			300			KRAB.		A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.899A>G	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	A	0.101	-1.151707	0.01700	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.06933	3.24;3.24	5.74	3.98	0.46160	Krueppel-associated box (1);	0.465644	0.20367	N	0.093726	T	0.00724	0.0024	N	0.02202	-0.64	0.30040	N	0.812684	B	0.02656	0.0	B	0.01281	0.0	T	0.48387	-0.9040	10	0.02654	T	1	.	7.8284	0.29328	0.3093:0.0:0.6907:0.0	.	300	Q15776	ZN192_HUMAN	G	300	ENSP00000332750:E300G;ENSP00000402948:E300G	ENSP00000332750:E300G	E	+	2	0	ZNF192	28228936	0.036000	0.19791	0.934000	0.37439	0.959000	0.62525	0.359000	0.20233	0.914000	0.36822	-0.763000	0.03452	GAA		PASS	0.483	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			73	129	73	129	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33147525	33147525	+	Nonsense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:33147525G>A	ENST00000374708.4	-	11	1417	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	COL11A2_ENST00000374713.1_Nonsense_Mutation_p.Q426*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.Q452*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.Q392*|COL11A2_ENST00000341947.2_Nonsense_Mutation_p.Q473*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.Q413*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.Q366*|COL11A2_ENST00000477772.1_5'Flank|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.Q447*	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	473	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.Q473*(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCCTGGGCCTGAGCCTCCTGG	0.637																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1417-1419)CAG>TAG		collagen, type XI, alpha 2 isoform 1							42.0	51.0	48.0					6																	33147525		2203	4300	6503	SO:0001587	stop_gained	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33147525G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1159C>T	6.37:g.33147525G>A	ENSP00000363840:p.Gln387*					COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Nonsense_Mutation_p.Q387*|COL11A2_uc003ocz.1_Nonsense_Mutation_p.Q366*	p.Q473*	NM_080680	NP_542411	P13942	COBA2_HUMAN			13	1645	-			473			Nonhelical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Nonsense_Mutation	SNP	ENST00000374708.4	37	c.1417C>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	g	39	7.868257	0.98534	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788	.	.	.	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.6498	0.56755	0.0:0.0:1.0:0.0	.	.	.	.	X	387;473;452;447;426;413;392;366;473	.	ENSP00000339915:Q473X	Q	-	1	0	COL11A2	33255503	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	7.241000	0.78201	2.354000	0.79902	0.543000	0.68304	CAG		PASS	0.637	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			41	90	41	90	---	---	---	---
MLN	4295	broad.mit.edu	37	6	33768842	33768842	+	Silent	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:33768842G>A	ENST00000430124.2	-	2	164	c.99C>T	c.(97-99)ggC>ggT	p.G33G	MLN_ENST00000507738.1_Silent_p.G33G|MLN_ENST00000266003.5_Silent_p.G33G	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	33					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)	receptor binding (GO:0005102)	p.G33G(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						TCTGGAGTTCGCCATAGGTGA	0.567																																						uc003off.1																			2	Substitution - coding silent(2)		NS(1)|lung(1)		0						c.(97-99)GGC>GGT		motilin isoform 1 preproprotein							161.0	156.0	157.0					6																	33768842		2203	4300	6503	SO:0001819	synonymous_variant	4295				cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity	g.chr6:33768842G>A		CCDS4786.1, CCDS47412.1, CCDS54993.1	6p21.31	2014-01-30			ENSG00000096395	ENSG00000096395		"""Endogenous ligands"""	7141	protein-coding gene	gene with protein product	"""prepromotilin"""	158270					Standard	NM_001184698		Approved		uc003off.1	P12872	OTTHUMG00000014536	ENST00000430124.2:c.99C>T	6.37:g.33768842G>A						MLN_uc003ofg.1_Silent_p.G33G|MLN_uc011drn.1_Silent_p.G33G	p.G33G	NM_002418	NP_002409	P12872	MOTI_HUMAN			2	170	-			33					B7ZLR7|E9PDN2|J3KN51|Q2M1L2|Q5T975|Q6NSY7	Silent	SNP	ENST00000430124.2	37	c.99C>T	CCDS4786.1																																																																																				PASS	0.567	MLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040211.4			219	312	219	312	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38835933	38835933	+	Silent	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:38835933T>A	ENST00000359357.3	+	46	6392	c.6138T>A	c.(6136-6138)atT>atA	p.I2046I	DNAH8_ENST00000449981.2_Silent_p.I2263I|DNAH8_ENST00000441566.1_Silent_p.I2010I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2046					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I2046I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATTAAGCATTGTCATGAGAG	0.353																																						uc003ooe.1																			2	Substitution - coding silent(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(6136-6138)ATT>ATA		dynein, axonemal, heavy polypeptide 8							122.0	119.0	120.0					6																	38835933		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38835933T>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6138T>A	6.37:g.38835933T>A							p.I2046I	NM_001371	NP_001362					46	6738	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.6138T>A		.	.	.	.	.	.	.	.	.	.	T	10.30	1.312033	0.23821	.	.	ENSG00000124721	ENST00000394393	.	.	.	5.49	-10.5	0.00291	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7847	0.01046	0.231:0.2946:0.2056:0.2689	.	.	.	.	X	92	.	.	L	+	2	0	DNAH8	38943911	0.004000	0.15560	0.640000	0.29408	0.991000	0.79684	-1.275000	0.02817	-1.915000	0.01077	0.533000	0.62120	TTG		PASS	0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		120	154	120	154	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38835954	38835954	+	Silent	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:38835954T>C	ENST00000359357.3	+	46	6413	c.6159T>C	c.(6157-6159)gaT>gaC	p.D2053D	DNAH8_ENST00000449981.2_Silent_p.D2270D|DNAH8_ENST00000441566.1_Silent_p.D2017D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2053					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2053D(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GACTAAGAGATATGAACCTTT	0.363																																						uc003ooe.1																			2	Substitution - coding silent(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(6157-6159)GAT>GAC		dynein, axonemal, heavy polypeptide 8							111.0	110.0	111.0					6																	38835954		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38835954T>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6159T>C	6.37:g.38835954T>C							p.D2053D	NM_001371	NP_001362					46	6759	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.6159T>C		.	.	.	.	.	.	.	.	.	.	T	8.636	0.894903	0.17613	.	.	ENSG00000124721	ENST00000394393	.	.	.	5.79	2.15	0.27550	.	.	.	.	.	T	0.43188	0.1236	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30119	-0.9989	4	.	.	.	.	8.926	0.35641	0.0:0.365:0.0:0.635	.	.	.	.	T	99	.	.	I	+	2	0	DNAH8	38943932	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.588000	0.23924	0.140000	0.18849	0.533000	0.62120	ATA		PASS	0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		62	168	62	168	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38891790	38891790	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:38891790G>T	ENST00000359357.3	+	71	10417	c.10163G>T	c.(10162-10164)tGc>tTc	p.C3388F	DNAH8_ENST00000449981.2_Missense_Mutation_p.C3605F|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.C3352F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3388					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.C3388F(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTCTGCTGTGCACGGGATTC	0.428																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(10162-10164)TGC>TTC		dynein, axonemal, heavy polypeptide 8							237.0	218.0	225.0					6																	38891790		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38891790G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10163G>T	6.37:g.38891790G>T	ENSP00000352312:p.Cys3388Phe					uc003oof.1_Intron	p.C3388F	NM_001371	NP_001362					71	10763	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10163G>T		.	.	.	.	.	.	.	.	.	.	G	15.99	2.994934	0.54041	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.73681	-0.77;-0.77;-0.77	6.06	5.14	0.70334	Dynein heavy chain, coiled coil stalk (1);	0.364353	0.31279	N	0.007935	T	0.67795	0.2931	L	0.56769	1.78	0.42305	D	0.99219	P	0.36222	0.544	B	0.41619	0.361	T	0.70995	-0.4720	10	0.51188	T	0.08	.	15.334	0.74238	0.0:0.2542:0.7458:0.0	.	3388	Q96JB1	DYH8_HUMAN	F	3593;3593;3388;3352	ENSP00000333363:C3593F;ENSP00000352312:C3388F;ENSP00000402294:C3352F	ENSP00000333363:C3593F	C	+	2	0	DNAH8	38999768	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.798000	0.38814	2.882000	0.98803	0.655000	0.94253	TGC		PASS	0.428	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		158	310	158	310	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38980082	38980082	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:38980082T>C	ENST00000359357.3	+	88	13066	c.12812T>C	c.(12811-12813)aTa>aCa	p.I4271T	DNAH8_ENST00000441566.1_Missense_Mutation_p.I4235T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4271			I -> V (in dbSNP:rs10484847). {ECO:0000269|PubMed:12297094}.		cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I4271T(1)|p.V4271A(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTCATTTCAATACTCCGCAGT	0.358																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(12811-12813)ATA>ACA		dynein, axonemal, heavy polypeptide 8							156.0	145.0	149.0					6																	38980082		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38980082T>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12812T>C	6.37:g.38980082T>C	ENSP00000352312:p.Ile4271Thr						p.I4271T	NM_001371	NP_001362					88	13412	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.12812T>C		.	.	.	.	.	.	.	.	.	.	T	8.369	0.834821	0.16820	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.07908	3.15;3.15;3.15	6.16	3.63	0.41609	Dynein heavy chain (1);	0.554802	0.19449	N	0.113988	T	0.01287	0.0042	N	0.04355	-0.22	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.46498	-0.9187	10	0.13853	T	0.58	.	14.4856	0.67614	0.0:0.0:0.2403:0.7597	.	4271	Q96JB1	DYH8_HUMAN	T	4476;4271;4235	ENSP00000333363:I4476T;ENSP00000352312:I4271T;ENSP00000402294:I4235T	ENSP00000333363:I4476T	I	+	2	0	DNAH8	39088060	0.944000	0.32072	0.177000	0.23020	0.975000	0.68041	4.072000	0.57563	1.130000	0.42092	0.528000	0.53228	ATA		PASS	0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		106	220	106	220	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40400370	40400370	+	Silent	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:40400370G>C	ENST00000338305.6	-	2	1025	c.483C>G	c.(481-483)ctC>ctG	p.L161L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	161						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.L161L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGGCCATGGAGGTTGTTGT	0.582																																						uc003oph.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(481-483)CTC>CTG		leucine rich repeat and fibronectin type III							70.0	71.0	70.0					6																	40400370		2203	4300	6503	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400370G>C	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.483C>G	6.37:g.40400370G>C							p.L161L	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	948	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		161			LRR 5.|Extracellular (Potential).		A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.483C>G	CCDS34443.1																																																																																				PASS	0.582	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		65	98	65	98	---	---	---	---
APOBEC2	10930	broad.mit.edu	37	6	41029329	41029329	+	Missense_Mutation	SNP	G	G	A	rs142866037	byFrequency	TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:41029329G>A	ENST00000244669.2	+	2	438	c.394G>A	c.(394-396)Gct>Act	p.A132T		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	132					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.A132T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCAGCGTGTGCTGACCGCAT	0.567													G|||	7	0.00139776	0.0	0.0	5008	,	,		19942	0.0069		0.0	False		,,,				2504	0.0				Ovarian(118;1320 2185 8096 29684)	uc003opl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)GCT>ACT		apolipoprotein B mRNA editing enzyme, catalytic							173.0	160.0	164.0					6																	41029329		2203	4300	6503	SO:0001583	missense	10930				DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	g.chr6:41029329G>A	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.394G>A	6.37:g.41029329G>A	ENSP00000244669:p.Ala132Thr					UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.2_RNA	p.A132T	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN			2	541	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		132					B2R899|Q53F28|Q5TGU5|Q5TGU6	Missense_Mutation	SNP	ENST00000244669.2	37	c.394G>A	CCDS4848.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	26.8	4.769249	0.90020	.	.	ENSG00000124701	ENST00000244669	T	0.70516	-0.49	5.69	5.69	0.88448	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	0.049187	0.85682	D	0.000000	T	0.82093	0.4962	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	D	0.83753	0.0210	10	0.87932	D	0	.	18.7927	0.91980	0.0:0.0:1.0:0.0	.	132	Q9Y235	ABEC2_HUMAN	T	132	ENSP00000244669:A132T	ENSP00000244669:A132T	A	+	1	0	APOBEC2	41137307	1.000000	0.71417	0.251000	0.24312	0.753000	0.42808	9.476000	0.97823	2.676000	0.91093	0.655000	0.94253	GCT		PASS	0.567	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789		222	333	222	333	---	---	---	---
CRISP1	167	broad.mit.edu	37	6	49825094	49825094	+	Missense_Mutation	SNP	A	A	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:49825094A>C	ENST00000335847.4	-	2	121	c.20T>G	c.(19-21)tTg>tGg	p.L7W	CRISP1_ENST00000505118.1_Missense_Mutation_p.L7W|CRISP1_ENST00000355791.2_Missense_Mutation_p.L7W|CRISP1_ENST00000536021.1_Missense_Mutation_p.L7W|CRISP1_ENST00000329411.5_Missense_Mutation_p.L7W|CRISP1_ENST00000507853.1_Missense_Mutation_p.L7W	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	7					binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)	p.L7W(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					AACCAAAAACAAGAGGTGTTT	0.318																																						uc003ozw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)TTG>TGG		acidic epididymal glycoprotein-like 1 isoform 1							89.0	82.0	84.0					6																	49825094		2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49825094A>C	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.20T>G	6.37:g.49825094A>C	ENSP00000338276:p.Leu7Trp					CRISP1_uc003ozx.2_Missense_Mutation_p.L7W	p.L7W	NM_001131	NP_001122	P54107	CRIS1_HUMAN			2	99	-	Lung NSC(77;0.0358)		7					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.20T>G	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	A	11.29	1.595365	0.28445	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	4.22	4.22	0.49857	CAP domain (1);	0.708385	0.12502	N	0.463241	T	0.19927	0.0479	L	0.61036	1.89	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.985	T	0.04281	-1.0963	9	.	.	.	.	10.0032	0.41942	1.0:0.0:0.0:0.0	.	7;7	P54107-2;P54107	.;CRIS1_HUMAN	W	7	ENSP00000425020:L7W;ENSP00000338276:L7W;ENSP00000348044:L7W;ENSP00000331317:L7W;ENSP00000427589:L7W;ENSP00000441798:L7W	.	L	-	2	0	CRISP1	49933053	0.112000	0.22096	0.017000	0.16124	0.096000	0.18686	3.119000	0.50422	2.146000	0.66826	0.533000	0.62120	TTG		PASS	0.318	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		35	105	35	105	---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50718997	50718997	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:50718997A>G	ENST00000008391.3	+	7	1327	c.1099A>G	c.(1099-1101)Att>Gtt	p.I367V		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.I367V(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)					ACCCACTCCAATTCTAGACCT	0.368																																						uc003paf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(1)	7						c.(1099-1101)ATT>GTT		transcription factor AP-2 beta-like 1							105.0	96.0	99.0					6																	50718997		2203	4299	6502	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50718997A>G	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.1099A>G	6.37:g.50718997A>G	ENSP00000008391:p.Ile367Val					TFAP2D_uc011dwt.1_RNA	p.I367V	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			7	1611	+	Lung NSC(77;0.0334)		367			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000008391.3	37	c.1099A>G	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.740696	0.49045	.	.	ENSG00000008197	ENST00000008391	D	0.96587	-4.06	5.48	5.48	0.80851	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90786	0.7107	L	0.35854	1.095	0.58432	D	0.999999	B	0.28400	0.21	B	0.28139	0.086	D	0.89551	0.3799	10	0.37606	T	0.19	-0.2816	15.5691	0.76320	1.0:0.0:0.0:0.0	.	367	Q7Z6R9	AP2D_HUMAN	V	367	ENSP00000008391:I367V	ENSP00000008391:I367V	I	+	1	0	TFAP2D	50826956	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.576000	0.82467	2.081000	0.62600	0.397000	0.26171	ATT		PASS	0.368	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		60	135	60	135	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66053931	66053931	+	Splice_Site	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:66053931C>A	ENST00000370621.3	-	10	2125	c.1599G>T	c.(1597-1599)gaG>gaT	p.E533D	EYS_ENST00000370618.3_Splice_Site_p.E533D|EYS_ENST00000342421.5_Splice_Site_p.E533D|EYS_ENST00000393380.2_Splice_Site_p.E533D|EYS_ENST00000370616.2_Splice_Site_p.E533D|EYS_ENST00000503581.1_Splice_Site_p.E533D			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	533					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.E533D(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTACCTTACCTCTTTTGTGC	0.328																																						uc011dxu.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(1597-1599)GAG>GAT		eyes shut homolog isoform 1							87.0	87.0	87.0					6																	66053931		2203	4299	6502	SO:0001630	splice_region_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66053931C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1599+1G>T	6.37:g.66053931C>A						EYS_uc003peq.2_Missense_Mutation_p.E533D|EYS_uc003per.1_Missense_Mutation_p.E533D	p.E533D	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			10	2137	-			533					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1599G>T		.	.	.	.	.	.	.	.	.	.	c	13.77	2.335056	0.41398	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	4.1	4.1	0.47936	.	.	.	.	.	T	0.06050	0.0157	N	0.05124	-0.11	0.19575	N	0.999969	P;P;P	0.50156	0.728;0.932;0.888	B;P;B	0.47827	0.219;0.558;0.355	T	0.22382	-1.0218	8	.	.	.	.	11.8255	0.52265	0.0:1.0:0.0:0.0	.	533;533;533	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	D	533	ENSP00000424243:E533D;ENSP00000359655:E533D;ENSP00000359650:E533D;ENSP00000377042:E533D;ENSP00000341818:E533D;ENSP00000359652:E533D	.	E	-	3	2	EYS	66110652	0.993000	0.37304	0.389000	0.26208	0.046000	0.14306	1.349000	0.33998	1.789000	0.52484	0.585000	0.79938	GAG		PASS	0.328	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	Missense_Mutation	54	110	54	110	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70866579	70866579	+	Silent	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:70866579G>T	ENST00000322773.4	+	34	2358	c.2256G>T	c.(2254-2256)cgG>cgT	p.R752R	COL19A1_ENST00000393344.1_Silent_p.R374R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	752	Collagen-like 7.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.R752R(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAGGAGAGCGGGGCTACCCTG	0.388																																						uc003pfc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(2254-2256)CGG>CGT		alpha 1 type XIX collagen precursor							80.0	83.0	82.0					6																	70866579		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70866579G>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2256G>T	6.37:g.70866579G>T						COL19A1_uc010kam.1_Silent_p.R648R	p.R752R	NM_001858	NP_001849	Q14993	COJA1_HUMAN			34	2373	+			752			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.2256G>T	CCDS4970.1																																																																																				PASS	0.388	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			27	64	27	64	---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86324793	86324793	+	Missense_Mutation	SNP	C	C	A	rs146447694		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:86324793C>A	ENST00000369622.3	-	11	2053	c.1553G>T	c.(1552-1554)cGc>cTc	p.R518L	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.A54S|SYNCRIP_ENST00000355238.6_Missense_Mutation_p.R518L	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	518	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R518P(1)|p.R518L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GGCTCTACCGCGGGGAGGAGC	0.577																																						uc003pla.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(2)	2						c.(1552-1554)CGC>CTC		synaptotagmin binding, cytoplasmic RNA							86.0	90.0	88.0					6																	86324793		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324793C>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1553G>T	6.37:g.86324793C>A	ENSP00000358635:p.Arg518Leu					SYNCRIP_uc003pku.2_Missense_Mutation_p.R518L|SYNCRIP_uc003pkw.2_Missense_Mutation_p.R483L|SYNCRIP_uc003pky.2_Missense_Mutation_p.R420L|SYNCRIP_uc003pkv.2_Missense_Mutation_p.R518L|SYNCRIP_uc003pkx.2_Missense_Mutation_p.R366L|SYNCRIP_uc003pkz.2_Missense_Mutation_p.R483L	p.R518L	NM_006372	NP_006363	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	2094	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	518			Interaction with SMN.|Interaction with APOBEC1.|8 X 3 AA repeats of R-G-G.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1553G>T	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.546706	0.45383	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.32753	1.48;1.44	5.18	4.29	0.51040	.	0.099978	0.64402	D	0.000003	T	0.22627	0.0546	M	0.73217	2.22	0.80722	D	1	B;P;B;B;B;B;B	0.35780	0.252;0.52;0.02;0.114;0.246;0.246;0.159	B;B;B;B;B;B;B	0.34590	0.091;0.186;0.026;0.057;0.186;0.186;0.057	T	0.10706	-1.0618	10	0.66056	D	0.02	.	15.4762	0.75481	0.0:0.8607:0.1393:0.0	.	518;483;420;366;483;518;518	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	L	518	ENSP00000347380:R518L;ENSP00000358635:R518L	ENSP00000347380:R518L	R	-	2	0	SYNCRIP	86381512	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	7.818000	0.86416	1.134000	0.42165	0.563000	0.77884	CGC		PASS	0.577	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		128	214	128	214	---	---	---	---
GJA10	84694	broad.mit.edu	37	6	90604959	90604959	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:90604959C>A	ENST00000369352.1	+	1	772	c.772C>A	c.(772-774)Cca>Aca	p.P258T		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	254					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.P258T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		AACAGGCCCTCCATTCCATTT	0.393																																						uc011eaa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(772-774)CCA>ACA		gap junction protein, alpha 10							87.0	80.0	82.0					6																	90604959		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90604959C>A	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.772C>A	6.37:g.90604959C>A	ENSP00000358358:p.Pro258Thr						p.P258T	NM_032602	NP_115991	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	772	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	258			Cytoplasmic (Potential).		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.772C>A	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	C	5.540	0.284450	0.10513	.	.	ENSG00000135355	ENST00000369352	D	0.97791	-4.54	4.77	2.98	0.34508	.	0.270973	0.30850	N	0.008756	D	0.92779	0.7704	L	0.59436	1.845	0.09310	N	1	P	0.48998	0.918	B	0.43701	0.428	D	0.87871	0.2671	10	0.41790	T	0.15	.	5.6793	0.17765	0.0:0.6187:0.1427:0.2386	.	258	Q969M2	CXA10_HUMAN	T	258	ENSP00000358358:P258T	ENSP00000358358:P258T	P	+	1	0	GJA10	90661680	0.000000	0.05858	0.085000	0.20634	0.427000	0.31564	0.264000	0.18497	0.740000	0.32651	0.563000	0.77884	CCA		PASS	0.393	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		101	161	101	161	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112451081	112451081	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:112451081G>A	ENST00000230538.7	-	30	4527	c.4130C>T	c.(4129-4131)aCc>aTc	p.T1377I	LAMA4_ENST00000389463.4_Missense_Mutation_p.T1370I|LAMA4_ENST00000424408.2_Missense_Mutation_p.T1370I|LAMA4_ENST00000522006.1_Missense_Mutation_p.T1370I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1377	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.T1370I(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		attataCCTGGTAAAGTAGGC	0.323																																						uc003pvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(4129-4131)ACC>ATC		laminin, alpha 4 isoform 1 precursor							93.0	80.0	84.0					6																	112451081		2199	4295	6494	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112451081G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4130C>T	6.37:g.112451081G>A	ENSP00000230538:p.Thr1377Ile					LAMA4_uc003pvv.2_Missense_Mutation_p.T1370I|LAMA4_uc003pvt.2_Missense_Mutation_p.T1370I	p.T1377I	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	30	4439	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1377			Laminin G-like 3.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4130C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706829	0.68615	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.180367	0.64402	D	0.000013	T	0.72867	0.3514	L	0.54323	1.7	0.80722	D	1	P;P	0.46784	0.884;0.859	B;B	0.44224	0.444;0.316	T	0.73610	-0.3928	10	0.44086	T	0.13	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	1377;1370	Q16363;Q16363-2	LAMA4_HUMAN;.	I	1377;1370;1370;1370	ENSP00000230538:T1377I;ENSP00000429488:T1370I;ENSP00000374114:T1370I;ENSP00000416470:T1370I	ENSP00000230538:T1377I	T	-	2	0	LAMA4	112557774	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.243000	0.51392	2.820000	0.97059	0.650000	0.86243	ACC		PASS	0.323	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		23	34	23	34	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129609151	129609151	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:129609151G>T	ENST00000421865.2	+	19	2746	c.2697G>T	c.(2695-2697)gaG>gaT	p.E899D		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	899	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.E899D(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGTACTGTGAGCTCTGTGCTG	0.473																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(2695-2697)GAG>GAT		laminin alpha 2 subunit isoform a precursor							269.0	223.0	238.0					6																	129609151		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129609151G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2697G>T	6.37:g.129609151G>T	ENSP00000400365:p.Glu899Asp					LAMA2_uc003qbo.2_Missense_Mutation_p.E899D	p.E899D	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	19	2802	+			899			Laminin EGF-like 8.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2697G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746217	0.69418	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.60299	0.2	5.93	5.93	0.95920	EGF-like, laminin (4);	0.124698	0.53938	D	0.000050	T	0.37348	0.1000	L	0.37561	1.115	0.43574	D	0.995904	B;B	0.29481	0.245;0.138	B;B	0.36608	0.229;0.137	T	0.33701	-0.9858	10	0.39692	T	0.17	.	10.6662	0.45732	0.1414:0.0:0.8586:0.0	.	899;899	A6NF00;P24043	.;LAMA2_HUMAN	D	899	ENSP00000400365:E899D	ENSP00000346769:E899D	E	+	3	2	LAMA2	129650844	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.914000	0.39966	2.798000	0.96311	0.655000	0.94253	GAG		PASS	0.473	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			214	446	214	446	---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130374031	130374031	+	Missense_Mutation	SNP	A	A	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:130374031A>C	ENST00000529410.1	+	9	956	c.477A>C	c.(475-477)gaA>gaC	p.E159D	L3MBTL3_ENST00000361794.2_Missense_Mutation_p.E159D|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.E159D|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.E134D|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.E134D|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.E134D			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	159					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E159D(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GGGACGTAGAAGAAGACAATG	0.378																																						uc003qbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(475-477)GAA>GAC		l(3)mbt-like 3 isoform a							107.0	98.0	101.0					6																	130374031		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130374031A>C	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.477A>C	6.37:g.130374031A>C	ENSP00000431962:p.Glu159Asp					L3MBTL3_uc003qbu.2_Missense_Mutation_p.E134D	p.E159D	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	7	647	+			159					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.477A>C	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	A	6.584	0.476083	0.12521	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000528385;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T;T	0.43294	2.51;2.51;2.51;0.95;2.51;2.51;2.51	5.13	0.965	0.19661	.	0.404711	0.26571	N	0.023624	T	0.04907	0.0132	N	0.08118	0	0.09310	N	0.999997	B;B	0.12013	0.005;0.001	B;B	0.15052	0.012;0.001	T	0.36163	-0.9759	10	0.13853	T	0.58	.	2.0891	0.03652	0.5222:0.1411:0.0792:0.2575	.	134;159	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	D	159;134;159;159;134;134;159	ENSP00000431962:E159D;ENSP00000437185:E134D;ENSP00000354526:E159D;ENSP00000433257:E159D;ENSP00000357121:E134D;ENSP00000436706:E134D;ENSP00000357118:E159D	ENSP00000354526:E159D	E	+	3	2	L3MBTL3	130415724	0.415000	0.25416	0.608000	0.28969	0.780000	0.44128	0.533000	0.23082	0.338000	0.23692	-0.490000	0.04691	GAA		PASS	0.378	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		28	80	28	80	---	---	---	---
TAAR5	9038	broad.mit.edu	37	6	132910451	132910451	+	Silent	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:132910451G>T	ENST00000258034.2	-	1	426	c.375C>A	c.(373-375)ctC>ctA	p.L125L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	125					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.L125L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		AAATGAAACAGAGATGGAAGA	0.567																																						uc003qdk.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(373-375)CTC>CTA		trace amine associated receptor 5							118.0	127.0	124.0					6																	132910451		2203	4300	6503	SO:0001819	synonymous_variant	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910451G>T	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.375C>A	6.37:g.132910451G>T							p.L125L	NM_003967	NP_003958	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	427	-	Breast(56;0.112)		125			Helical; Name=3; (Potential).		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	c.375C>A	CCDS5156.1																																																																																				PASS	0.567	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		73	117	73	117	---	---	---	---
ECT2L	345930	broad.mit.edu	37	6	139164314	139164314	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:139164314C>G	ENST00000423192.1	+	5	702	c.541C>G	c.(541-543)Caa>Gaa	p.Q181E	ECT2L_ENST00000541398.1_Missense_Mutation_p.Q112E|ECT2L_ENST00000367682.2_Missense_Mutation_p.Q181E			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	181							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q181E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ACTGGAGAGACAAAGAGAAAA	0.413			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.1				Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					1	Substitution - Missense(1)		lung(1)		0						c.(541-543)CAA>GAA		epithelial cell transforming sequence 2							121.0	121.0	121.0					6																	139164314		1880	4107	5987	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139164314C>G		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.541C>G	6.37:g.139164314C>G	ENSP00000387388:p.Gln181Glu					ECT2L_uc011edq.1_Missense_Mutation_p.Q112E	p.Q181E	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			4	644	+			181					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.541C>G	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	5.013	0.188067	0.09547	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.74842	0.21;0.21;-0.88	5.72	4.82	0.62117	.	1.578680	0.06442	U	0.726109	T	0.50017	0.1591	L	0.29908	0.895	0.21220	N	0.999758	B;B	0.19200	0.034;0.006	B;B	0.18561	0.022;0.01	T	0.41070	-0.9529	10	0.39692	T	0.17	0.7805	12.1198	0.53885	0.2808:0.7192:0.0:0.0	.	112;181	F5H7S9;Q008S8	.;ECT2L_HUMAN	E	181;181;112	ENSP00000387388:Q181E;ENSP00000356655:Q181E;ENSP00000442307:Q112E	ENSP00000356655:Q181E	Q	+	1	0	ECT2L	139206007	0.942000	0.31987	0.966000	0.40874	0.326000	0.28443	1.141000	0.31528	2.709000	0.92574	0.591000	0.81541	CAA		PASS	0.413	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		11	237	11	237	---	---	---	---
STX11	8676	broad.mit.edu	37	6	144508138	144508138	+	Missense_Mutation	SNP	C	C	G	rs483352901		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:144508138C>G	ENST00000367568.4	+	2	557	c.374C>G	c.(373-375)gCg>gGg	p.A125G		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	125				HSAVAR -> ALGSGG (in Ref. 1; AAD02107). {ECO:0000305}.	cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)	p.A125G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TCGGCAGTGGCGCGCATTTCG	0.672									Familial Hemophagocytic Lymphohistiocytosis																													uc003qks.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(373-375)GCG>GGG		syntaxin 11							19.0	18.0	18.0					6																	144508138		2202	4298	6500	SO:0001583	missense	8676	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508138C>G	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.374C>G	6.37:g.144508138C>G	ENSP00000356540:p.Ala125Gly						p.A125G	NM_003764	NP_003755	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	566	+			125	HSAVAR -> ALGSGG (in Ref. 1; AAD02107).				E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.374C>G	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.256953	0.59321	.	.	ENSG00000135604	ENST00000367568	T	0.17370	2.28	5.87	5.01	0.66863	t-SNARE (1);Syntaxin, N-terminal (2);	0.050973	0.85682	D	0.000000	T	0.12178	0.0296	M	0.78916	2.43	0.50313	D	0.999861	B	0.32968	0.392	B	0.33295	0.161	T	0.02901	-1.1096	10	0.23891	T	0.37	-19.0421	14.7499	0.69516	0.0:0.9302:0.0:0.0698	.	125	O75558	STX11_HUMAN	G	125	ENSP00000356540:A125G	ENSP00000356540:A125G	A	+	2	0	STX11	144549831	1.000000	0.71417	0.999000	0.59377	0.196000	0.23810	2.760000	0.47581	1.498000	0.48600	0.655000	0.94253	GCG		PASS	0.672	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			11	23	11	23	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146262959	146262959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:146262959C>A	ENST00000367505.2	-	10	2554	c.2290G>T	c.(2290-2292)Gaa>Taa	p.E764*	SHPRH_ENST00000438092.2_Nonsense_Mutation_p.E764*|SHPRH_ENST00000367503.3_Nonsense_Mutation_p.E764*|SHPRH_ENST00000275233.7_Nonsense_Mutation_p.E764*			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	764	Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E764*(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATATCCTGTTCTGCCAAAAAA	0.383																																						uc003qlf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2290-2292)GAA>TAA		SNF2 histone linker PHD RING helicase isoform a							60.0	60.0	60.0					6																	146262959		1894	4111	6005	SO:0001587	stop_gained	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146262959C>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2290G>T	6.37:g.146262959C>A	ENSP00000356475:p.Glu764*					SHPRH_uc003qld.2_Nonsense_Mutation_p.E764*|SHPRH_uc003qle.2_Nonsense_Mutation_p.E764*|SHPRH_uc003qlg.1_Nonsense_Mutation_p.E320*|SHPRH_uc003qlj.1_Nonsense_Mutation_p.E653*	p.E764*	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	10	2689	-		Ovarian(120;0.0365)	764			Helicase ATP-binding; second part.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Nonsense_Mutation	SNP	ENST00000367505.2	37	c.2290G>T	CCDS43513.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.533119|10.533119	0.99422|0.99422	.|.	.|.	ENSG00000146414|ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233|ENST00000444767	.|.	.|.	.|.	6.02|6.02	5.15|5.15	0.70609|0.70609	.|.	0.065588|.	0.64402|.	D|.	0.000012|.	.|T	.|0.68604	.|0.3019	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.75516	.|-0.3290	.|4	0.31617|0.87932	T|D	0.26|0	-19.0606|-19.0606	15.3247|15.3247	0.74150|0.74150	0.0:0.9334:0.0:0.0666|0.0:0.9334:0.0:0.0666	.|.	.|.	.|.	.|.	X|I	764|652	.|.	ENSP00000275233:E764X|ENSP00000388065:R652I	E|R	-|-	1|2	0|0	SHPRH|SHPRH	146304652|146304652	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.622000|4.622000	0.61240|0.61240	1.565000|1.565000	0.49641|0.49641	0.650000|0.650000	0.86243|0.86243	GAA|AGA		PASS	0.383	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		58	79	58	79	---	---	---	---
AKAP12	9590	broad.mit.edu	37	6	151672421	151672421	+	Silent	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:151672421C>T	ENST00000253332.1	+	3	3084	c.2895C>T	c.(2893-2895)gtC>gtT	p.V965V	AKAP12_ENST00000359755.5_Silent_p.V860V|AKAP12_ENST00000402676.2_Silent_p.V965V|AKAP12_ENST00000354675.6_Silent_p.V867V			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	965					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.V965V(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCGACACGGTCGTTAGTGAGG	0.547																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(2893-2895)GTC>GTT		A kinase (PRKA) anchor protein 12 isoform 1							62.0	66.0	65.0					6																	151672421		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151672421C>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2895C>T	6.37:g.151672421C>T						AKAP12_uc003qoe.2_Silent_p.V965V|AKAP12_uc003qof.2_Silent_p.V867V|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.V860V	p.V965V	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3135	+		Ovarian(120;0.125)	965					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.2895C>T	CCDS5229.1																																																																																				PASS	0.547	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			61	156	61	156	---	---	---	---
SNX9	51429	broad.mit.edu	37	6	158349731	158349731	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:158349731G>T	ENST00000392185.3	+	12	1456	c.1285G>T	c.(1285-1287)Ggc>Tgc	p.G429C		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	429	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.G429C(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GCGCTGCACGGGCCGTAAGTC	0.597																																						uc003qqv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1285-1287)GGC>TGC		sorting nexin 9							54.0	37.0	43.0					6																	158349731		2203	4298	6501	SO:0001583	missense	51429				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	g.chr6:158349731G>T	AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1285G>T	6.37:g.158349731G>T	ENSP00000376024:p.Gly429Cys						p.G429C	NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)	12	1458	+		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)	429			BAR.		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	ENST00000392185.3	37	c.1285G>T	CCDS5253.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347324	0.61183	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.51071	0.72	4.89	4.89	0.63831	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70226	-0.4930	10	0.87932	D	0	-26.2131	18.041	0.89319	0.0:0.0:1.0:0.0	.	429	Q9Y5X1	SNX9_HUMAN	C	429;429;229	ENSP00000376024:G429C	ENSP00000252631:G229C	G	+	1	0	SNX9	158269719	1.000000	0.71417	0.639000	0.29394	0.088000	0.18126	9.184000	0.94893	2.263000	0.75096	0.467000	0.42956	GGC		PASS	0.597	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042856.1			11	14	11	14	---	---	---	---
SUN1	23353	broad.mit.edu	37	7	895996	895996	+	Splice_Site	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:895996C>T	ENST00000405266.1	+	13	1487	c.1463C>T	c.(1462-1464)gCc>gTc	p.A488V	SUN1_ENST00000452783.2_Splice_Site_p.A348V|SUN1_ENST00000425407.2_Splice_Site_p.A368V|SUN1_ENST00000456758.2_Splice_Site_p.A640V|SUN1_ENST00000413514.2_Splice_Site_p.A249V|SUN1_ENST00000389574.3_Splice_Site_p.A368V|SUN1_ENST00000401592.1_Splice_Site_p.A451V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	478					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.A368V(1)|p.A451V(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACTTTTTAGGCCATCCAGAAG	0.348																																						uc011jvp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1351-1353)GCC>GTC		unc-84 homolog A isoform a							151.0	154.0	153.0					7																	895996		1884	4095	5979	SO:0001630	splice_region_variant	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:895996C>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1462-1C>T	7.37:g.895996C>T						GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.A368V|SUN1_uc011jvq.1_Missense_Mutation_p.A348V|SUN1_uc003sjg.2_Missense_Mutation_p.A356V|SUN1_uc011jvr.1_Missense_Mutation_p.A249V|SUN1_uc003sji.2_Missense_Mutation_p.A289V|SUN1_uc003sjk.2_Missense_Mutation_p.A90V	p.A451V	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			13	1431	+			478			Perinuclear space.|Potential.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.1352C>T		.	.	.	.	.	.	.	.	.	.	C	7.633	0.679282	0.14907	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	T;T;T;T;T;T;T;T	0.23552	2.2;2.22;2.23;2.22;2.22;2.22;1.9;1.91	4.17	3.14	0.36123	.	0.611482	0.16648	N	0.205359	T	0.15392	0.0371	L	0.38838	1.175	0.33008	D	0.527127	B;B;B;B;B;B	0.18166	0.009;0.026;0.004;0.026;0.009;0.007	B;B;B;B;B;B	0.18871	0.013;0.023;0.009;0.023;0.015;0.023	T	0.16012	-1.0417	10	0.30078	T	0.28	-14.311	0.6672	0.00853	0.2115:0.3856:0.1755:0.2274	.	249;348;451;640;478;368	E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.;.;.;.;SUN1_HUMAN;.	V	640;368;348;488;451;478;368;376;249	ENSP00000388743:A640V;ENSP00000374225:A368V;ENSP00000413439:A348V;ENSP00000384116:A488V;ENSP00000384015:A451V;ENSP00000392309:A368V;ENSP00000409909:A376V;ENSP00000389313:A249V	ENSP00000297445:A478V	A	+	2	0	SUN1	862522	0.055000	0.20627	0.935000	0.37517	0.967000	0.64934	-0.047000	0.11963	0.831000	0.34780	0.655000	0.94253	GCC		PASS	0.348	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154	Missense_Mutation	4	235	4	235	---	---	---	---
C7orf50	84310	broad.mit.edu	37	7	1166901	1166901	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:1166901C>T	ENST00000397098.3	-	2	1047	c.121G>A	c.(121-123)Ggc>Agc	p.G41S	C7orf50_ENST00000357429.6_Missense_Mutation_p.G41S|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000397100.2_Missense_Mutation_p.G41S			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	41							poly(A) RNA binding (GO:0044822)	p.G41S(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		ACCTTGGAGCCGGCTCCTTCG	0.597																																						uc003sju.2																			1	Substitution - Missense(1)		lung(1)		0						c.(121-123)GGC>AGC		hypothetical protein LOC84310							49.0	43.0	45.0					7																	1166901		2203	4300	6503	SO:0001583	missense	84310						protein binding	g.chr7:1166901C>T	BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.121G>A	7.37:g.1166901C>T	ENSP00000380286:p.Gly41Ser					C7orf50_uc011jvt.1_Missense_Mutation_p.G41S|C7orf50_uc011jvu.1_Missense_Mutation_p.G41S	p.G41S	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)	2	191	-		Ovarian(82;0.0779)	41						Missense_Mutation	SNP	ENST00000397098.3	37	c.121G>A	CCDS5320.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.616056	0.00828	.	.	ENSG00000146540	ENST00000397100;ENST00000397098;ENST00000357429;ENST00000491163	.	.	.	3.21	-1.43	0.08884	.	3.747260	0.00877	N	0.002095	T	0.27278	0.0669	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10753	-1.0616	9	0.09084	T	0.74	6.2498	6.2194	0.20673	0.0:0.3965:0.2198:0.3836	.	41	Q9BRJ6	CG050_HUMAN	S	41	.	ENSP00000350011:G41S	G	-	1	0	C7orf50	1133427	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.702000	0.05069	-0.608000	0.05731	-1.899000	0.00529	GGC		PASS	0.597	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322817.3	NM_032350		12	21	12	21	---	---	---	---
TTYH3	80727	broad.mit.edu	37	7	2691859	2691859	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:2691859G>T	ENST00000258796.7	+	8	1115	c.910G>T	c.(910-912)Gcc>Tcc	p.A304S	TTYH3_ENST00000407643.1_Missense_Mutation_p.A272S|TTYH3_ENST00000403167.1_Missense_Mutation_p.A133S	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	304					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)	p.A304T(1)|p.A304S(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCCCCGCGCCGCCAACCCCTT	0.652																																						uc003smp.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(910-912)GCC>TCC		tweety 3							43.0	34.0	37.0					7																	2691859		2203	4300	6503	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2691859G>T		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.910G>T	7.37:g.2691859G>T	ENSP00000258796:p.Ala304Ser					TTYH3_uc010ksn.2_Missense_Mutation_p.A24S|TTYH3_uc003smq.2_Missense_Mutation_p.A133S	p.A304S	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	8	1097	+		Ovarian(82;0.0112)	304			Extracellular (Potential).		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.910G>T	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.501849	0.00157	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000403167	T;T;T	0.10573	2.86;2.86;2.86	4.1	-4.65	0.03339	.	0.594657	0.18439	N	0.141198	T	0.02380	0.0073	N	0.03608	-0.345	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.19148	0.024;0.007	T	0.34875	-0.9811	10	0.07482	T	0.82	-6.5676	1.0808	0.01642	0.4205:0.1669:0.2314:0.1812	.	133;304	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	S	304;272;133	ENSP00000258796:A304S;ENSP00000385316:A272S;ENSP00000385015:A133S	ENSP00000258796:A304S	A	+	1	0	TTYH3	2658385	0.000000	0.05858	0.009000	0.14445	0.053000	0.15095	-0.872000	0.04219	-1.274000	0.02421	-1.151000	0.01829	GCC		PASS	0.652	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		15	38	15	38	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11464387	11464387	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:11464387A>T	ENST00000423059.4	-	16	3570	c.3319T>A	c.(3319-3321)Tgc>Agc	p.C1107S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1107	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C1107S(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTCACCTTGCAGATGCTCCAG	0.488										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3319-3321)TGC>AGC		thrombospondin, type I, domain containing 7A							185.0	173.0	177.0					7																	11464387		1994	4189	6183	SO:0001583	missense	221981					integral to membrane		g.chr7:11464387A>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3319T>A	7.37:g.11464387A>T	ENSP00000406482:p.Cys1107Ser	HNSCC(18;0.044)					p.C1107S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	15	3571	-			1107			TSP type-1 11.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.3319T>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	A	33	5.258936	0.95368	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	D	0.98585	-5.01	5.85	5.85	0.93711	.	0.046101	0.85682	D	0.000000	D	0.99180	0.9716	M	0.92268	3.29	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.99282	1.0896	10	0.87932	D	0	.	16.2303	0.82332	1.0:0.0:0.0:0.0	.	1107	Q9UPZ6	THS7A_HUMAN	S	1107	ENSP00000406482:C1107S	ENSP00000262042:C1107S	C	-	1	0	THSD7A	11430912	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	8.672000	0.91181	2.233000	0.73108	0.533000	0.62120	TGC		PASS	0.488	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		177	323	177	323	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21744074	21744074	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:21744074A>T	ENST00000409508.3	+	38	6327	c.6296A>T	c.(6295-6297)gAt>gTt	p.D2099V	DNAH11_ENST00000328843.6_Missense_Mutation_p.D2106V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2106					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.D2106V(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCATTAAGGGATTTCAATATG	0.413									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(6316-6318)GAT>GTT		dynein, axonemal, heavy chain 11							60.0	60.0	60.0					7																	21744074		1911	4113	6024	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21744074A>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6296A>T	7.37:g.21744074A>T	ENSP00000475939:p.Asp2099Val						p.D2106V	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			39	6348	+			2106					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.6317A>T		.	.	.	.	.	.	.	.	.	.	A	24.3	4.512667	0.85389	.	.	ENSG00000105877	ENST00000328843	T	0.33654	1.4	5.44	5.44	0.79542	.	0.047144	0.85682	D	0.000000	T	0.58466	0.2124	.	.	.	0.80722	D	1	D	0.61697	0.99	P	0.61940	0.896	T	0.63699	-0.6578	9	0.87932	D	0	.	15.7688	0.78149	1.0:0.0:0.0:0.0	.	2106	Q96DT5	DYH11_HUMAN	V	2106	ENSP00000330671:D2106V	ENSP00000330671:D2106V	D	+	2	0	DNAH11	21710599	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.443000	0.80521	2.184000	0.69523	0.460000	0.39030	GAT		PASS	0.413	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		20	49	20	49	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21824066	21824066	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:21824066G>T	ENST00000409508.3	+	58	9536	c.9505G>T	c.(9505-9507)Gtg>Ttg	p.V3169L	DNAH11_ENST00000328843.6_Missense_Mutation_p.V3176L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3176	Stalk. {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.V3176L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCAGACTGAAGTGTTCCAGAA	0.418									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(9526-9528)GTG>TTG		dynein, axonemal, heavy chain 11							75.0	74.0	74.0					7																	21824066		1938	4141	6079	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21824066G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.9505G>T	7.37:g.21824066G>T	ENSP00000475939:p.Val3169Leu						p.V3176L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			59	9557	+			3176			Stalk (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.9526G>T		.	.	.	.	.	.	.	.	.	.	G	29.6	5.020304	0.93462	.	.	ENSG00000105877	ENST00000328843	T	0.79454	-1.27	6.17	6.17	0.99709	Dynein heavy chain, coiled coil stalk (1);	0.174275	0.50627	D	0.000112	T	0.81283	0.4790	.	.	.	0.54753	D	0.999982	P	0.40681	0.727	P	0.44359	0.447	T	0.81604	-0.0857	9	0.66056	D	0.02	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	3176	Q96DT5	DYH11_HUMAN	L	3176	ENSP00000330671:V3176L	ENSP00000330671:V3176L	V	+	1	0	DNAH11	21790591	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.770000	0.62309	2.941000	0.99782	0.655000	0.94253	GTG		PASS	0.418	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		21	45	21	45	---	---	---	---
NFE2L3	9603	broad.mit.edu	37	7	26225342	26225342	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:26225342T>C	ENST00000056233.3	+	4	2283	c.2024T>C	c.(2023-2025)gTa>gCa	p.V675A		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	675					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.V675A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ATCTTGATAGTACCCAAAGAA	0.408																																						uc003sxq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(2023-2025)GTA>GCA		nuclear factor erythroid 2-like 3							57.0	58.0	57.0					7																	26225342		2203	4296	6499	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225342T>C	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.2024T>C	7.37:g.26225342T>C	ENSP00000056233:p.Val675Ala						p.V675A	NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN			4	2296	+			675					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.2024T>C	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.784374	0.31593	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.37058	1.22	5.78	5.78	0.91487	.	0.121832	0.56097	D	0.000037	T	0.42223	0.1193	M	0.77486	2.375	0.35980	D	0.83595	P	0.45348	0.856	B	0.41374	0.355	T	0.60556	-0.7240	10	0.59425	D	0.04	-7.8841	12.3248	0.55005	0.0:0.0:0.141:0.859	.	675	Q9Y4A8	NF2L3_HUMAN	A	675;380	ENSP00000056233:V675A	ENSP00000056233:V675A	V	+	2	0	NFE2L3	26191867	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	7.745000	0.85046	2.210000	0.71456	0.482000	0.46254	GTA		PASS	0.408	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			13	247	13	247	---	---	---	---
HOXA10	3206	broad.mit.edu	37	7	27211732	27211732	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:27211732C>A	ENST00000283921.4	-	2	1018	c.1019G>T	c.(1018-1020)cGc>cTc	p.R340L	HOXA9_ENST00000497089.1_5'Flank|HOXA10_ENST00000396344.4_Missense_Mutation_p.R24L|HOXA10_ENST00000521421.1_5'UTR|HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519935.1_RNA|MIR196B_ENST00000384852.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron|HOXA-AS4_ENST00000519694.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	340					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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.R323L(1)|p.R340L(1)		breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						GTAGGGGCAGCGCTTCTTCCG	0.522																																						uc011jzm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1018-1020)CGC>CTC		homeobox A10 isoform a							95.0	89.0	91.0					7																	27211732		2203	4300	6503	SO:0001583	missense	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27211732C>A		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.1019G>T	7.37:g.27211732C>A	ENSP00000283921:p.Arg340Leu					MIR196B_hsa-mir-196b|MI0001150_5'Flank|HOXA10_uc003syw.3_Missense_Mutation_p.R24L	p.R340L	NM_018951	NP_061824	P31260	HXA10_HUMAN			2	1049	-			340			Homeobox.		O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	ENST00000283921.4	37	c.1019G>T	CCDS5410.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433051	0.83776	.	.	ENSG00000253293	ENST00000283921;ENST00000396344	D;D	0.99158	-5.5;-5.5	5.7	5.7	0.88788	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.99635	0.9866	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97649	1.0153	10	0.87932	D	0	.	19.8362	0.96658	0.0:1.0:0.0:0.0	.	340;24	P31260;Q504T1	HXA10_HUMAN;.	L	340;24	ENSP00000283921:R340L;ENSP00000379633:R24L	ENSP00000283921:R340L	R	-	2	0	HOXA10	27178257	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.882000	0.69714	2.690000	0.91761	0.563000	0.77884	CGC		PASS	0.522	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			64	135	64	135	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378572	31378572	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:31378572C>T	ENST00000297142.3	-	2	633	c.311G>A	c.(310-312)aGg>aAg	p.R104K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	104	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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.R104K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CATCCTGTTCCTCTCGCGCGC	0.478																																						uc003tch.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(310-312)AGG>AAG		neurogenic differentiation 6							215.0	211.0	213.0					7																	31378572		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378572C>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.311G>A	7.37:g.31378572C>T	ENSP00000297142:p.Arg104Lys						p.R104K	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	664	-			104			Basic motif.		Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.311G>A	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513237	0.85389	.	.	ENSG00000164600	ENST00000297142	D	0.91894	-2.93	5.46	5.46	0.80206	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	M	0.87827	2.91	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	D	0.97037	0.9754	10	0.87932	D	0	-16.5313	19.3174	0.94220	0.0:1.0:0.0:0.0	.	104	Q96NK8	NDF6_HUMAN	K	104	ENSP00000297142:R104K	ENSP00000297142:R104K	R	-	2	0	NEUROD6	31345097	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.770000	0.85390	2.569000	0.86673	0.650000	0.86243	AGG		PASS	0.478	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		228	328	228	328	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	31887681	31887681	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:31887681C>A	ENST00000396191.1	-	9	1336	c.881G>T	c.(880-882)aGa>aTa	p.R294I	PDE1C_ENST00000396184.3_Missense_Mutation_p.R294I|PDE1C_ENST00000396193.1_Missense_Mutation_p.R354I|PDE1C_ENST00000396182.2_Missense_Mutation_p.R294I|PDE1C_ENST00000321453.7_Missense_Mutation_p.R294I	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	294	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.R294I(2)|p.R354I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CAGTACAGATCTGTCATTATA	0.388																																						uc003tcm.1																			3	Substitution - Missense(3)		lung(3)	skin(3)|central_nervous_system(1)	4						c.(880-882)AGA>ATA		phosphodiesterase 1C							98.0	93.0	95.0					7																	31887681		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31887681C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.881G>T	7.37:g.31887681C>A	ENSP00000379494:p.Arg294Ile					PDE1C_uc003tcn.1_Missense_Mutation_p.R294I|PDE1C_uc003tco.1_Missense_Mutation_p.R354I|PDE1C_uc003tcr.2_Missense_Mutation_p.R294I|PDE1C_uc003tcs.2_Missense_Mutation_p.R294I	p.R294I	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		9	1350	-			294			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.881G>T	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.058869	0.76074	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	5.92	5.04	0.67666	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.045673	0.85682	D	0.000000	D	0.85788	0.5778	L	0.52266	1.64	0.80722	D	1	P;D;D	0.53745	0.911;0.962;0.961	P;P;B	0.55345	0.773;0.774;0.428	D	0.86601	0.1866	10	0.56958	D	0.05	.	14.762	0.69612	0.0:0.9302:0.0:0.0698	.	294;354;294	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	I	354;294;294;294;294	ENSP00000379496:R354I;ENSP00000379494:R294I;ENSP00000318105:R294I;ENSP00000379487:R294I;ENSP00000379485:R294I	ENSP00000318105:R294I	R	-	2	0	PDE1C	31854206	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.977000	0.63792	1.506000	0.48736	0.650000	0.86243	AGA		PASS	0.388	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			84	180	84	180	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48311842	48311842	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:48311842C>T	ENST00000435803.1	+	17	2603	c.2579C>T	c.(2578-2580)tCt>tTt	p.S860F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	860					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S805F(1)|p.S860F(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTAAATTTTTCTGTTCCAGAA	0.318																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(2578-2580)TCT>TTT		ATP binding cassette, sub-family A (ABC1),							57.0	56.0	56.0					7																	48311842		1791	4056	5847	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48311842C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2579C>T	7.37:g.48311842C>T	ENSP00000411096:p.Ser860Phe					ABCA13_uc010kyr.2_Missense_Mutation_p.S363F	p.S860F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	2604	+			860					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2579C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.773311	0.49786	.	.	ENSG00000179869	ENST00000435803	D	0.88975	-2.45	5.86	5.86	0.93980	.	0.000000	0.48286	D	0.000199	D	0.93723	0.7994	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.93871	0.7162	10	0.87932	D	0	.	17.3451	0.87308	0.0:1.0:0.0:0.0	.	860	Q86UQ4	ABCAD_HUMAN	F	860	ENSP00000411096:S860F	ENSP00000411096:S860F	S	+	2	0	ABCA13	48282388	0.752000	0.28338	0.920000	0.36463	0.024000	0.10985	1.994000	0.40757	2.787000	0.95880	0.650000	0.86243	TCT		PASS	0.318	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		70	97	70	97	---	---	---	---
DLX5	1749	broad.mit.edu	37	7	96650125	96650125	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:96650125T>C	ENST00000222598.4	-	3	1266	c.793A>G	c.(793-795)Agc>Ggc	p.S265G	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	265					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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)|transcription regulatory region DNA binding (GO:0044212)	p.S265G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TTGATTGAGCTGGCTGCACTT	0.622																																						uc003uon.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(793-795)AGC>GGC		distal-less homeobox 5							62.0	62.0	62.0					7																	96650125		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96650125T>C		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.793A>G	7.37:g.96650125T>C	ENSP00000222598:p.Ser265Gly						p.S265G	NM_005221	NP_005212	P56178	DLX5_HUMAN			3	1001	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		265					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.793A>G	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.179454	0.38511	.	.	ENSG00000105880	ENST00000222598	D	0.89617	-2.54	5.81	4.68	0.58851	.	0.521247	0.24260	N	0.040091	D	0.84179	0.5415	L	0.52573	1.65	0.36706	D	0.880407	B	0.02656	0.0	B	0.04013	0.001	T	0.81556	-0.0879	10	0.28530	T	0.3	-3.8537	10.4442	0.44483	0.0:0.1027:0.0:0.8973	.	265	P56178	DLX5_HUMAN	G	265	ENSP00000222598:S265G	ENSP00000222598:S265G	S	-	1	0	DLX5	96488061	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.738000	0.38207	2.217000	0.71921	0.533000	0.62120	AGC		PASS	0.622	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			30	79	30	79	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100389695	100389695	+	RNA	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:100389695C>A	ENST00000348028.3	+	0	7801				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A2545D(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCACCCAGGCCTGTAGGGTG	0.677																																						uc003uwj.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(7636-7638)GCC>GAC		zonadhesin isoform 3							20.0	24.0	22.0					7																	100389695		2054	4203	6257			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100389695C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100389695C>A						ZAN_uc003uwk.2_Missense_Mutation_p.A2546D|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.P539T	p.A2546D	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		42	7802	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2546			Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.7637C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.34|13.34	2.206879|2.206879	0.39003|0.39003	.|.	.|.	ENSG00000146839|ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585|ENST00000546213	T;T;T|T	0.77229|0.25085	-1.08;-1.08;-1.08|1.82	3.29|3.29	3.29|3.29	0.37713|0.37713	Uncharacterised domain, cysteine-rich (2);|.	0.801600|.	0.10638|.	N|.	0.651329|.	T|T	0.21921|0.21921	0.0528|0.0528	N|N	0.08118|0.08118	0|0	0.22066|0.22066	N|N	0.999386|0.999386	D;D|D	0.69078|0.58268	0.996;0.997|0.982	P;P|P	0.61070|0.53549	0.814;0.883|0.729	T|T	0.08659|0.08659	-1.0711|-1.0711	10|9	0.35671|0.87932	T|D	0.21|0	.|.	10.35|10.35	0.43929|0.43929	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2545;2546|962	F5H0T8;Q9Y493|F5GX59	.;ZAN_HUMAN|.	D|T	2545|962	ENSP00000445943:A2545D;ENSP00000445091:A2545D;ENSP00000444427:A2545D|ENSP00000441117:P962T	ENSP00000445091:A2545D|ENSP00000423579:P2546T	A|P	+|+	2|1	0|0	ZAN|ZAN	100227631|100227631	0.062000|0.062000	0.20869|0.20869	0.997000|0.997000	0.53966|0.53966	0.977000|0.977000	0.68977|0.68977	0.410000|0.410000	0.21098|0.21098	2.144000|2.144000	0.66660|0.66660	0.556000|0.556000	0.70494|0.70494	GCC|CCT		PASS	0.677	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		12	24	12	24	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100459152	100459152	+	Silent	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:100459152G>T	ENST00000354161.3	+	11	1607	c.1482G>T	c.(1480-1482)gcG>gcT	p.A494A	SLC12A9_ENST00000275729.3_Silent_p.A405A|SLC12A9_ENST00000540482.1_Silent_p.A494A|SLC12A9_ENST00000415287.1_Silent_p.A405A|SLC12A9_ENST00000428758.1_Silent_p.A494A	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	494					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.A494A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCTCACCGCGCGAGGAGGCC	0.652																																						uc003uwp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1480-1482)GCG>GCT		solute carrier family 12 (potassium/chloride							48.0	49.0	49.0					7																	100459152		2203	4300	6503	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459152G>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1482G>T	7.37:g.100459152G>T						SLC12A9_uc003uwq.2_Silent_p.A405A|SLC12A9_uc011kki.1_Silent_p.A25A|SLC12A9_uc003uwr.2_Silent_p.A230A|SLC12A9_uc003uws.2_Silent_p.A25A|SLC12A9_uc003uwt.2_Silent_p.A230A|SLC12A9_uc003uwv.2_Silent_p.A25A	p.A494A	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN			11	1624	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		494			Extracellular (Potential).		B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.1482G>T	CCDS5707.1																																																																																				PASS	0.652	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		64	99	64	99	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100675524	100675524	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:100675524C>G	ENST00000306151.4	+	3	891	c.827C>G	c.(826-828)cCa>cGa	p.P276R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	276	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P276R(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAAGCACTCCATTAACAAGA	0.507																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(826-828)CCA>CGA		mucin 17 precursor							155.0	152.0	153.0					7																	100675524		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675524C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.827C>G	7.37:g.100675524C>G	ENSP00000302716:p.Pro276Arg					MUC17_uc010lho.1_RNA	p.P276R	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	880	+	Lung NSC(181;0.136)|all_lung(186;0.182)		276			Extracellular (Potential).|59 X approximate tandem repeats.|2.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.827C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.262	-0.999160	0.02128	.	.	ENSG00000169876	ENST00000306151	T	0.03272	3.99	0.623	0.623	0.17654	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	P	0.35139	0.486	B	0.22601	0.04	T	0.47497	-0.9113	9	0.29301	T	0.29	.	3.7752	0.08657	0.4259:0.5741:1.0E-4:0.0	.	276	Q685J3	MUC17_HUMAN	R	276	ENSP00000302716:P276R	ENSP00000302716:P276R	P	+	2	0	MUC17	100462244	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.123000	0.03263	0.641000	0.30601	0.121000	0.15741	CCA		PASS	0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		150	380	150	380	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100679577	100679577	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:100679577G>T	ENST00000306151.4	+	3	4944	c.4880G>T	c.(4879-4881)aGt>aTt	p.S1627I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1627	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S1627I(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAACTCCTAGTGAAGGAAGT	0.493																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4879-4881)AGT>ATT		mucin 17 precursor							220.0	226.0	224.0					7																	100679577		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679577G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4880G>T	7.37:g.100679577G>T	ENSP00000302716:p.Ser1627Ile					MUC17_uc010lho.1_RNA	p.S1627I	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4933	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1627			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|25.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4880G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	1.148	-0.647523	0.03506	.	.	ENSG00000169876	ENST00000306151	T	0.02067	4.47	0.683	-1.37	0.09056	.	.	.	.	.	T	0.01454	0.0047	N	0.24115	0.695	0.09310	N	1	B	0.27594	0.182	B	0.12156	0.007	T	0.46512	-0.9186	9	0.35671	T	0.21	.	3.7202	0.08453	0.0:0.0:0.5811:0.4189	.	1627	Q685J3	MUC17_HUMAN	I	1627	ENSP00000302716:S1627I	ENSP00000302716:S1627I	S	+	2	0	MUC17	100466297	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.216000	0.02982	-0.478000	0.06823	0.134000	0.15878	AGT		PASS	0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		295	479	295	479	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103183247	103183247	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:103183247T>C	ENST00000428762.1	-	43	6761	c.6602A>G	c.(6601-6603)aAc>aGc	p.N2201S	RELN_ENST00000343529.5_Missense_Mutation_p.N2201S|RELN_ENST00000424685.2_Missense_Mutation_p.N2201S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2201					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.N2201S(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAAGAGGTTGTTTCCACTAGA	0.373																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(6601-6603)AAC>AGC		reelin isoform a							115.0	108.0	110.0					7																	103183247		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103183247T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6602A>G	7.37:g.103183247T>C	ENSP00000392423:p.Asn2201Ser					RELN_uc010liz.2_Missense_Mutation_p.N2201S	p.N2201S	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	43	6762	-			2201					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6602A>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	19.31	3.804025	0.70682	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.25579	1.79;1.79;1.79	5.79	5.79	0.91817	Neuraminidase (1);	0.054406	0.64402	D	0.000001	T	0.34308	0.0893	N	0.26042	0.785	0.58432	D	0.999991	D;P	0.59767	0.986;0.862	P;P	0.59115	0.852;0.485	T	0.04427	-1.0952	10	0.39692	T	0.17	.	16.1304	0.81428	0.0:0.0:0.0:1.0	.	2201;2201	P78509-2;P78509	.;RELN_HUMAN	S	2201	ENSP00000392423:N2201S;ENSP00000345694:N2201S;ENSP00000388446:N2201S	ENSP00000345694:N2201S	N	-	2	0	RELN	102970483	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.274000	0.78538	2.202000	0.70862	0.482000	0.46254	AAC		PASS	0.373	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		93	179	93	179	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114302136	114302136	+	Missense_Mutation	SNP	A	A	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:114302136A>G	ENST00000393494.2	+	14	1943	c.1664A>G	c.(1663-1665)aAt>aGt	p.N555S	FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000403559.4_Missense_Mutation_p.N572S|FOXP2_ENST00000408937.3_Missense_Mutation_p.N580S|FOXP2_ENST00000350908.4_Missense_Mutation_p.N555S|FOXP2_ENST00000393498.2_Missense_Mutation_p.N534S|FOXP2_ENST00000393491.3_Missense_Mutation_p.N370S|FOXP2_ENST00000393489.3_Missense_Mutation_p.N463S			O15409	FOXP2_HUMAN	forkhead box P2	555					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N580S(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GTACGTCATAATCTTAGCCTG	0.363																																						uc003vhb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(1663-1665)AAT>AGT		forkhead box P2 isoform I							117.0	109.0	112.0					7																	114302136		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114302136A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1664A>G	7.37:g.114302136A>G	ENSP00000377132:p.Asn555Ser					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.N580S|FOXP2_uc003vha.2_Missense_Mutation_p.N463S|FOXP2_uc011kmu.1_Missense_Mutation_p.N572S|FOXP2_uc011kmv.1_Missense_Mutation_p.N554S|FOXP2_uc010ljz.1_Missense_Mutation_p.N370S|FOXP2_uc003vhe.1_Missense_Mutation_p.N125S	p.N555S	NM_014491	NP_055306	O15409	FOXP2_HUMAN			14	2038	+			555			Fork-head.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1664A>G	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101222	0.56183	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09;-4.09	5.47	5.47	0.80525	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98353	0.9453	M	0.90252	3.1	0.80722	D	1	D;D;D;D;D	0.71674	0.979;0.979;0.998;0.979;0.974	D;D;D;D;D	0.75020	0.973;0.973;0.985;0.973;0.969	D	0.99541	1.0963	10	0.87932	D	0	.	15.8499	0.78921	1.0:0.0:0.0:0.0	.	554;572;370;555;580	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	S	555;580;572;555;532;463;370	ENSP00000377132:N555S;ENSP00000386200:N580S;ENSP00000385069:N572S;ENSP00000265436:N555S;ENSP00000377129:N463S;ENSP00000377130:N370S	ENSP00000265436:N555S	N	+	2	0	FOXP2	114089372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.199000	0.70637	0.533000	0.62120	AAT		PASS	0.363	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		49	74	49	74	---	---	---	---
TSPAN12	23554	broad.mit.edu	37	7	120428872	120428872	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:120428872C>A	ENST00000222747.3	-	8	1299	c.692G>T	c.(691-693)gGg>gTg	p.G231V	TSPAN12_ENST00000415871.1_Missense_Mutation_p.G231V	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	231					angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|regulation of angiogenesis (GO:0045765)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.G231V(1)		endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TTGTGTCACCCCAATGGAGAT	0.458																																						uc003vjk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(691-693)GGG>GTG		transmembrane 4 superfamily member 12							84.0	78.0	80.0					7																	120428872		2203	4300	6503	SO:0001583	missense	23554				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction		g.chr7:120428872C>A	AF124522	CCDS5777.1	7q31.31	2013-02-14	2005-03-21	2005-03-21	ENSG00000106025	ENSG00000106025		"""Tetraspanins"""	21641	protein-coding gene	gene with protein product		613138	"""transmembrane 4 superfamily member 12"""	TM4SF12			Standard	NM_012338		Approved	NET-2	uc003vjk.3	O95859	OTTHUMG00000156980	ENST00000222747.3:c.692G>T	7.37:g.120428872C>A	ENSP00000222747:p.Gly231Val					TSPAN12_uc010lkj.2_Missense_Mutation_p.G104V	p.G231V	NM_012338	NP_036470	O95859	TSN12_HUMAN			8	1066	-	all_neural(327;0.117)		231			Helical; (Potential).		A4D0V8|B4DRG6|Q549U9|Q8N5Y0	Missense_Mutation	SNP	ENST00000222747.3	37	c.692G>T	CCDS5777.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331016	0.81690	.	.	ENSG00000106025	ENST00000222747;ENST00000415871	T;T	0.77229	-1.08;-1.08	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.86468	0.5940	L	0.60455	1.87	0.80722	D	1	D	0.56035	0.974	D	0.65773	0.938	D	0.86925	0.2069	10	0.87932	D	0	-20.0625	19.7821	0.96420	0.0:1.0:0.0:0.0	.	231	O95859	TSN12_HUMAN	V	231	ENSP00000222747:G231V;ENSP00000397699:G231V	ENSP00000222747:G231V	G	-	2	0	TSPAN12	120216108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.682000	0.91365	0.655000	0.94253	GGG		PASS	0.458	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346951.1	NM_012338		99	136	99	136	---	---	---	---
ARF5	381	broad.mit.edu	37	7	127231089	127231089	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:127231089C>T	ENST00000000233.5	+	5	557	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	FSCN3_ENST00000420086.2_5'Flank|FSCN3_ENST00000265825.5_5'Flank|GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	135					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.P135S(1)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						CAACGCCATGCCCGTGAGCGA	0.612																																						uc003vmb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(403-405)CCC>TCC		ADP-ribosylation factor 5							117.0	111.0	113.0					7																	127231089		2203	4300	6503	SO:0001583	missense	381				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr7:127231089C>T		CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"""ADP-ribosylation factors"""	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.403C>T	7.37:g.127231089C>T	ENSP00000000233:p.Pro135Ser					FSCN3_uc003vmc.1_5'Flank|FSCN3_uc011kog.1_5'Flank|FSCN3_uc011koh.1_5'Flank|FSCN3_uc003vmd.1_5'Flank|FSCN3_uc010llc.1_5'Flank	p.P135S	NM_001662	NP_001653	P84085	ARF5_HUMAN			5	439	+			135					P26437	Missense_Mutation	SNP	ENST00000000233.5	37	c.403C>T	CCDS34745.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743721	0.30865	.	.	ENSG00000004059	ENST00000000233;ENST00000415666	T;T	0.59364	0.27;0.27	5.19	3.28	0.37604	Small GTP-binding protein domain (1);	0.135030	0.49916	D	0.000132	T	0.22399	0.0540	N	0.00864	-1.135	0.41988	D	0.990832	B	0.02656	0.0	B	0.04013	0.001	T	0.05550	-1.0878	10	0.15499	T	0.54	-10.5739	8.8979	0.35476	0.1567:0.5392:0.3042:0.0	.	135	P84085	ARF5_HUMAN	S	135;133	ENSP00000000233:P135S;ENSP00000412701:P133S	ENSP00000000233:P135S	P	+	1	0	ARF5	127018325	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	1.907000	0.39897	1.151000	0.42436	0.561000	0.74099	CCC		PASS	0.612	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662		6	333	6	333	---	---	---	---
FAM180A	389558	broad.mit.edu	37	7	135418840	135418840	+	Nonsense_Mutation	SNP	G	G	C	rs375312300		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:135418840G>C	ENST00000338588.3	-	3	670	c.405C>G	c.(403-405)taC>taG	p.Y135*	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Nonsense_Mutation_p.Y135*	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	135						extracellular region (GO:0005576)		p.Y135*(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						GGGCTGTGCGGTAGGCTGTGT	0.617																																						uc003vtd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(403-405)TAC>TAG		hypothetical protein LOC389558 precursor							129.0	106.0	114.0					7																	135418840		2203	4300	6503	SO:0001587	stop_gained	389558					extracellular region		g.chr7:135418840G>C	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.405C>G	7.37:g.135418840G>C	ENSP00000342336:p.Tyr135*					FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Nonsense_Mutation_p.Y135*	p.Y135*	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN			3	671	-			135					B2RP85	Nonsense_Mutation	SNP	ENST00000338588.3	37	c.405C>G	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465916	0.84425	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	.	.	.	5.65	1.27	0.21489	.	0.191930	0.48286	D	0.000191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.3579	9.9231	0.41476	0.3475:0.0:0.6525:0.0	.	.	.	.	X	135	.	ENSP00000342336:Y135X	Y	-	3	2	FAM180A	135069380	0.998000	0.40836	1.000000	0.80357	0.632000	0.37999	0.780000	0.26760	0.329000	0.23460	-0.254000	0.11334	TAC		PASS	0.617	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		49	88	49	88	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140453108	140453108	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:140453108C>A	ENST00000288602.6	-	15	1887	c.1827G>T	c.(1825-1827)caG>caT	p.Q609H		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	609	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q609Q(1)|p.Q609H(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ACTGTTCAAACTGATGGGACC	0.393		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	2	Substitution - Missense(1)|Substitution - coding silent(1)	p.Q609R(1)|p.Q609Q(1)|p.Q609*(1)	lung(1)|skin(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1825-1827)CAG>CAT		B-Raf	Sorafenib(DB00398)						101.0	94.0	96.0					7																	140453108		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453108C>A	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1827G>T	7.37:g.140453108C>A	ENSP00000288602:p.Gln609His						p.Q609H	NM_004333	NP_004324	P15056	BRAF_HUMAN			15	1888	-	Melanoma(164;0.00956)		609			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1827G>T	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.20|13.20	2.165357|2.165357	0.38217|0.38217	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.83075|.	-1.68|.	5.65|5.65	3.85|3.85	0.44370|0.44370	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50188|0.50188	0.1601|0.1601	L|L	0.31207|0.31207	0.915|0.915	0.80722|0.80722	D|D	1|1	B|.	0.22414|.	0.069|.	B|.	0.26202|.	0.067|.	T|T	0.36841|0.36841	-0.9731|-0.9731	10|5	0.72032|.	D|.	0.01|.	.|.	10.6756|10.6756	0.45783|0.45783	0.0:0.7426:0.0:0.2574|0.0:0.7426:0.0:0.2574	.|.	609|.	P15056|.	BRAF_HUMAN|.	H|I	609|217	ENSP00000288602:Q609H|.	ENSP00000288602:Q609H|.	Q|S	-|-	3|2	2|0	BRAF|BRAF	140099577|140099577	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.289000|1.289000	0.33307|0.33307	0.769000|0.769000	0.33313|0.33313	0.650000|0.650000	0.86243|0.86243	CAG|AGT		PASS	0.393	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		83	176	83	176	---	---	---	---
WEE2	494551	broad.mit.edu	37	7	141427144	141427144	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:141427144C>A	ENST00000397541.2	+	10	1839	c.1433C>A	c.(1432-1434)gCa>gAa	p.A478E	WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|RNU1-82P_ENST00000390851.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	478	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.A478E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCTTCTGCAGCAGCTCTGGCC	0.468																																						uc003vwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|stomach(1)	2						c.(1432-1434)GCA>GAA		WEE1 homolog 2							129.0	126.0	127.0					7																	141427144		1866	4123	5989	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141427144C>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1433C>A	7.37:g.141427144C>A	ENSP00000380675:p.Ala478Glu					FLJ40852_uc011krh.1_RNA|FLJ40852_uc010lnm.2_RNA|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.A478E	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			10	1839	+	Melanoma(164;0.0171)		478			Protein kinase.			Missense_Mutation	SNP	ENST00000397541.2	37	c.1433C>A	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	6.297	0.422857	0.11928	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	T;T	0.73258	-0.07;-0.73	5.6	2.84	0.33178	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.247105	0.33813	U	0.004525	T	0.48874	0.1524	N	0.16743	0.435	0.09310	N	0.999998	B	0.21071	0.051	B	0.25405	0.06	T	0.29610	-1.0006	10	0.07030	T	0.85	-9.0967	9.8423	0.41006	0.0:0.7512:0.0:0.2487	.	478	P0C1S8	WEE2_HUMAN	E	478;196	ENSP00000380675:A478E;ENSP00000420388:A196E	ENSP00000380675:A478E	A	+	2	0	WEE2	141073613	0.002000	0.14202	0.871000	0.34182	0.925000	0.55904	0.871000	0.28023	0.409000	0.25649	-0.157000	0.13467	GCA		PASS	0.468	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		6	414	6	414	---	---	---	---
OR2A2	442361	broad.mit.edu	37	7	143806781	143806781	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:143806781C>A	ENST00000408979.2	+	1	175	c.106C>A	c.(106-108)Ctc>Atc	p.L36I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L36I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTTCTATACACTCACCCTGCT	0.517																																						uc011ktz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(106-108)CTC>ATC		olfactory receptor, family 2, subfamily A,							165.0	163.0	164.0					7																	143806781		2027	4205	6232	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806781C>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.106C>A	7.37:g.143806781C>A	ENSP00000386209:p.Leu36Ile						p.L36I	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	106	+	Melanoma(164;0.0783)		36			Helical; Name=1; (Potential).		B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.106C>A	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	6.391	0.440173	0.12104	.	.	ENSG00000221989	ENST00000408979	T	0.00417	7.5	3.61	-7.21	0.01490	.	0.927628	0.08734	U	0.901580	T	0.00210	0.0006	L	0.31207	0.915	0.09310	N	1	B	0.10296	0.003	B	0.18871	0.023	T	0.38714	-0.9648	10	0.33141	T	0.24	-11.9652	1.6526	0.02775	0.3358:0.3656:0.1129:0.1857	.	36	Q6IF42	OR2A2_HUMAN	I	36	ENSP00000386209:L36I	ENSP00000386209:L36I	L	+	1	0	OR2A2	143437714	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-4.969000	0.00165	-2.825000	0.00342	-0.208000	0.12717	CTC		PASS	0.517	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			161	291	161	291	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	148112556	148112556	+	Silent	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:148112556C>T	ENST00000361727.3	+	24	4360	c.3844C>T	c.(3844-3846)Ctg>Ttg	p.L1282L	CNTNAP2_ENST00000538075.1_Silent_p.L341L|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1282					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.L1282L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCTGGTCTTCCTGATCCGGTA	0.582										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3844-3846)CTG>TTG		cell recognition molecule Caspr2 precursor							88.0	71.0	76.0					7																	148112556		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:148112556C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3844C>T	7.37:g.148112556C>T		HNSCC(39;0.1)				CNTNAP2_uc003wev.1_Silent_p.L59L	p.L1282L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		24	4360	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	1282			Helical; (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.3844C>T	CCDS5889.1																																																																																				PASS	0.582	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			52	85	52	85	---	---	---	---
KRBA1	84626	broad.mit.edu	37	7	149426415	149426415	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:149426415G>C	ENST00000255992.10	+	14	2161	c.1762G>C	c.(1762-1764)Gac>Cac	p.D588H	KRBA1_ENST00000319551.8_Intron|KRBA1_ENST00000485033.2_Intron|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	589								p.D588H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGGTTCAAAGACCCTGGGGC	0.652																																						uc003wfz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1765-1767)GAC>CAC		KRAB A domain containing 1							13.0	18.0	16.0					7																	149426415		1963	4123	6086	SO:0001583	missense	84626							g.chr7:149426415G>C	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000255992.10:c.1762G>C	7.37:g.149426415G>C	ENSP00000255992:p.Asp588His					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_Intron|KRBA1_uc003wgb.2_Intron	p.D589H	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		14	2164	+	Melanoma(164;0.165)|Ovarian(565;0.177)		589					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000255992.10	37	c.1765G>C		.	.	.	.	.	.	.	.	.	.	G	9.785	1.176264	0.21704	.	.	ENSG00000133619	ENST00000255992	T	0.53857	0.6	3.4	2.51	0.30379	.	0.325877	0.22495	N	0.059319	T	0.63792	0.2541	.	.	.	0.21652	N	0.999603	D	0.89917	1.0	D	0.68943	0.961	T	0.51340	-0.8718	9	0.59425	D	0.04	-13.0589	6.7272	0.23363	0.1298:0.0:0.8702:0.0	.	589	A5PL33	KRBA1_HUMAN	H	588	ENSP00000255992:D588H	ENSP00000255992:D588H	D	+	1	0	KRBA1	149057348	0.371000	0.25056	0.117000	0.21633	0.158000	0.22134	1.171000	0.31896	1.022000	0.39626	-0.140000	0.14226	GAC		PASS	0.652	KRBA1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032534		11	26	11	26	---	---	---	---
REPIN1	29803	broad.mit.edu	37	7	150069554	150069554	+	Silent	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:150069554C>T	ENST00000425389.2	+	1	1302	c.1224C>T	c.(1222-1224)tgC>tgT	p.C408C	REPIN1_ENST00000540729.1_Silent_p.C408C|REPIN1_ENST00000397281.2_Silent_p.C408C|REPIN1_ENST00000444957.1_Silent_p.C408C|REPIN1_ENST00000489432.2_Silent_p.C465C|REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	408					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.C465C(1)|p.C408C(1)		cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCGCCGAGTGCGGGAAGAACT	0.721																																						uc010lpq.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(1222-1224)TGC>TGT		replication initiator 1 isoform 1							4.0	5.0	5.0					7																	150069554		1918	4005	5923	SO:0001819	synonymous_variant	29803				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding	g.chr7:150069554C>T	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.1224C>T	7.37:g.150069554C>T						REPIN1_uc003whd.2_Silent_p.C397C|REPIN1_uc010lpr.1_Silent_p.C465C|REPIN1_uc003whc.2_Silent_p.C408C|REPIN1_uc003whe.2_Silent_p.C408C	p.C408C	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		4	1713	+	Ovarian(565;0.183)|Melanoma(164;0.226)		408			C2H2-type 10.		C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Silent	SNP	ENST00000425389.2	37	c.1224C>T	CCDS43677.1																																																																																				PASS	0.721	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376940.1	NM_014374		5	6	5	6	---	---	---	---
ASIC3	9311	broad.mit.edu	37	7	150747277	150747277	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr7:150747277G>A	ENST00000349064.5	+	2	817	c.619G>A	c.(619-621)Ggc>Agc	p.G207S	ASIC3_ENST00000357922.4_Missense_Mutation_p.G207S|ASIC3_ENST00000297512.8_Missense_Mutation_p.G207S	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	207					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)	p.G207S(2)									GGGTGGCATGGGCAATGGGCT	0.577																																						uc003win.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(619-621)GGC>AGC		amiloride-sensitive cation channel 3 isoform a							125.0	101.0	109.0					7																	150747277		2203	4300	6503	SO:0001583	missense	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150747277G>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.619G>A	7.37:g.150747277G>A	ENSP00000344838:p.Gly207Ser					ACCN3_uc003wio.2_Missense_Mutation_p.G207S|ACCN3_uc003wip.2_Missense_Mutation_p.G207S|ACCN3_uc003wiq.2_RNA	p.G207S	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	987	+			207			Extracellular (Potential).		B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	ENST00000349064.5	37	c.619G>A	CCDS5916.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837443	0.71373	.	.	ENSG00000213199	ENST00000357922;ENST00000349064;ENST00000297512	T;T;T	0.63913	-0.07;-0.07;-0.07	4.49	4.49	0.54785	.	0.000000	0.38897	U	0.001529	T	0.75199	0.3817	M	0.61703	1.905	0.54753	D	0.999986	P;P;D	0.89917	0.842;0.537;1.0	D;B;D	0.97110	0.95;0.343;1.0	T	0.73883	-0.3842	10	0.33940	T	0.23	-26.6418	15.0523	0.71885	0.0:0.0:1.0:0.0	.	207;207;207	Q9UHC3-2;Q9UHC3-3;Q9UHC3	.;.;ACCN3_HUMAN	S	207	ENSP00000350600:G207S;ENSP00000344838:G207S;ENSP00000297512:G207S	ENSP00000297512:G207S	G	+	1	0	ACCN3	150378210	1.000000	0.71417	0.783000	0.31826	0.104000	0.19210	7.966000	0.87956	2.229000	0.72834	0.561000	0.74099	GGC		PASS	0.577	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		34	107	34	107	---	---	---	---
SPAG11B	10407	broad.mit.edu	37	8	7320355	7320355	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr8:7320355G>T	ENST00000297498.2	-	2	254	c.88C>A	c.(88-90)Cac>Aac	p.H30N	SPAG11B_ENST00000398462.2_Missense_Mutation_p.H30N|SPAG11B_ENST00000359758.5_Missense_Mutation_p.H30N|SPAG11B_ENST00000361111.2_Missense_Mutation_p.H30N|SPAG11B_ENST00000317900.5_Missense_Mutation_p.H30N	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	30					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.H30N(3)		large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		GTGGCTGAGTGGTTCACATGT	0.587																																						uc003wrk.2																			3	Substitution - Missense(3)		lung(3)		0						c.(88-90)CAC>AAC		sperm associated antigen 11B isoform A							88.0	97.0	94.0					8																	7320355		1974	3922	5896	SO:0001583	missense	10407				spermatogenesis	extracellular region		g.chr8:7320355G>T	AF168616	CCDS5964.1, CCDS5965.1, CCDS5966.1, CCDS5967.1, CCDS47774.1	8p23.1	2014-02-21	2007-03-15	2007-03-15	ENSG00000164871	ENSG00000164871			14534	protein-coding gene	gene with protein product	"""epididymal protein 2B"""	606560				8167223, 1693137	Standard	NM_058200		Approved	HE2, EP2, EP2C, EP2D, EDDM2B	uc003wrl.3	Q08648	OTTHUMG00000129219	ENST00000297498.2:c.88C>A	8.37:g.7320355G>T	ENSP00000297498:p.His30Asn					SPAG11B_uc003wrg.1_Missense_Mutation_p.H30N|SPAG11B_uc003wrh.1_Missense_Mutation_p.H30N|SPAG11B_uc003wrl.2_Missense_Mutation_p.H30N|SPAG11B_uc003wrm.2_Missense_Mutation_p.H30N	p.H30N	NM_016512	NP_057596	Q08648	SG11B_HUMAN		COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)	2	255	-			30					E9PFH0|Q546A0|Q6ZYB2|Q9H4P8|Q9H4P9|Q9H4Q0|Q9H4Q1|Q9H4Q2|Q9NRT3|Q9NRV4|Q9NRV5|Q9NRV6|Q9NRV7|Q9NRV8	Missense_Mutation	SNP	ENST00000297498.2	37	c.88C>A	CCDS5966.1	.	.	.	.	.	.	.	.	.	.	G	8.717	0.913315	0.17907	.	.	ENSG00000164871	ENST00000528943;ENST00000359758;ENST00000361111;ENST00000297498;ENST00000398462;ENST00000317900	T;T;T	0.52983	1.2;0.64;1.3	2.59	-1.69	0.08186	.	.	.	.	.	T	0.36936	0.0985	L	0.39898	1.24	0.09310	N	1	B;B;P;P;P	0.46784	0.144;0.273;0.884;0.512;0.625	B;B;P;B;B	0.45474	0.027;0.063;0.482;0.107;0.315	T	0.26538	-1.0100	9	0.72032	D	0.01	.	3.4034	0.07332	0.4003:0.2068:0.3929:0.0	.	30;30;30;30;30	Q08648-3;A8MZA0;Q08648;Q6PDA7-3;E9PAK7	.;.;SG11B_HUMAN;.;.	N	13;30;30;30;30;30	ENSP00000437154:H13N;ENSP00000354411:H30N;ENSP00000297498:H30N	ENSP00000297498:H30N	H	-	1	0	SPAG11B	7307765	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	0.199000	0.17237	-0.448000	0.07128	0.461000	0.40582	CAC		PASS	0.587	SPAG11B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251390.2	NM_058202, NM_058200, NM_058201, NM_016512, NM_058203, NM_058206, NM_058207		30	136	30	136	---	---	---	---
DOK2	9046	broad.mit.edu	37	8	21769830	21769830	+	Silent	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr8:21769830G>A	ENST00000276420.4	-	2	513	c.255C>T	c.(253-255)ttC>ttT	p.F85F	DOK2_ENST00000544659.1_5'UTR	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	85	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.F85F(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGGTCTCCAGGAAGAAGGCAC	0.716																																						uc003wzy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(253-255)TTC>TTT		docking protein 2							13.0	17.0	16.0					8																	21769830		2195	4297	6492	SO:0001819	synonymous_variant	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21769830G>A	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.255C>T	8.37:g.21769830G>A						DOK2_uc003wzx.1_Silent_p.F85F|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_Intron	p.F85F	NM_003974	NP_003965	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	2	348	-			85			PH.		Q8N5A4	Silent	SNP	ENST00000276420.4	37	c.255C>T	CCDS6016.1																																																																																				PASS	0.716	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		3	2	3	2	---	---	---	---
DOK2	9046	broad.mit.edu	37	8	21769833	21769833	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr8:21769833G>T	ENST00000276420.4	-	2	510	c.252C>A	c.(250-252)ttC>ttA	p.F84L	DOK2_ENST00000544659.1_5'UTR	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	84	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.F84L(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCTCCAGGAAGAAGGCACTGG	0.711																																						uc003wzy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)TTC>TTA		docking protein 2							13.0	17.0	16.0					8																	21769833		2195	4297	6492	SO:0001583	missense	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21769833G>T	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.252C>A	8.37:g.21769833G>T	ENSP00000276420:p.Phe84Leu					DOK2_uc003wzx.1_Missense_Mutation_p.F84L|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_Intron	p.F84L	NM_003974	NP_003965	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	2	345	-			84			PH.		Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	c.252C>A	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555933	0.86231	.	.	ENSG00000147443	ENST00000276420;ENST00000523932	T;T	0.59502	1.03;0.26	5.03	3.23	0.37069	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.74007	0.3660	M	0.81112	2.525	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.74453	-0.3660	10	0.59425	D	0.04	.	10.7902	0.46428	0.1565:0.0:0.8435:0.0	.	84;84	O60496;A8K7W1	DOK2_HUMAN;.	L	84	ENSP00000276420:F84L;ENSP00000429224:F84L	ENSP00000276420:F84L	F	-	3	2	DOK2	21825779	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	4.418000	0.59828	0.526000	0.28541	0.655000	0.94253	TTC		PASS	0.711	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974		3	1	3	1	---	---	---	---
EIF4EBP1	1978	broad.mit.edu	37	8	37914609	37914609	+	Silent	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr8:37914609C>T	ENST00000338825.4	+	2	389	c.156C>T	c.(154-156)atC>atT	p.I52I	EIF4EBP1_ENST00000520657.1_3'UTR	NM_004095.3	NP_004086.1	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E binding protein 1	52					cellular protein metabolic process (GO:0044267)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translational initiation (GO:0045947)|positive regulation of mitotic cell cycle (GO:0045931)|response to ethanol (GO:0045471)|response to ischemia (GO:0002931)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	translation repressor activity (GO:0030371)	p.I52I(1)		endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				GTACCAGGATCATCTATGACC	0.552																																					Melanoma(144;549 1821 15133 20335 46806)	uc003xks.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)ATC>ATT		eukaryotic translation initiation factor 4E							70.0	67.0	68.0					8																	37914609		2203	4300	6503	SO:0001819	synonymous_variant	1978				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation	cytosol		g.chr8:37914609C>T		CCDS6100.1	8p12	2008-10-08			ENSG00000187840	ENSG00000187840			3288	protein-coding gene	gene with protein product	"""phosphorylated heat- and acid-stable protein regulated by insulin 1"""	602223				7935836	Standard	NM_004095		Approved	PHAS-I, 4E-BP1	uc003xks.3	Q13541	OTTHUMG00000164012	ENST00000338825.4:c.156C>T	8.37:g.37914609C>T							p.I52I	NM_004095	NP_004086	Q13541	4EBP1_HUMAN			2	228	+	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	52					B2R502|D3DSW8|Q6IBN3	Silent	SNP	ENST00000338825.4	37	c.156C>T	CCDS6100.1																																																																																				PASS	0.552	EIF4EBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376743.1	NM_004095		44	42	44	42	---	---	---	---
XKR4	114786	broad.mit.edu	37	8	56436018	56436018	+	Silent	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr8:56436018G>A	ENST00000327381.6	+	3	1285	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	395						integral component of membrane (GO:0016021)		p.S395S(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCTTTGCCTCGGTTTTCCAGC	0.512																																						uc003xsf.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)	2						c.(1183-1185)TCG>TCA		XK, Kell blood group complex subunit-related							343.0	270.0	295.0					8																	56436018		2203	4300	6503	SO:0001819	synonymous_variant	114786					integral to membrane		g.chr8:56436018G>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1185G>A	8.37:g.56436018G>A							p.S395S	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1217	+			395					Q96PZ8	Silent	SNP	ENST00000327381.6	37	c.1185G>A	CCDS34893.1																																																																																				PASS	0.512	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		105	385	105	385	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72942187	72942187	+	Silent	SNP	G	G	A	rs192532167	byFrequency	TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr8:72942187G>A	ENST00000262209.4	-	24	3093	c.2886C>T	c.(2884-2886)ggC>ggT	p.G962G	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	962					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.G962G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAGCAATGTCGCCAACTGCCA	0.418													A|||	2	0.000399361	0.0	0.0	5008	,	,		19926	0.002		0.0	False		,,,				2504	0.0					uc003xza.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(2884-2886)GGC>GGT		ankyrin-like protein 1	Menthol(DB00825)						130.0	104.0	113.0					8																	72942187		2203	4300	6503	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72942187G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2886C>T	8.37:g.72942187G>A						uc011lff.1_Intron|uc003xyy.2_Intron	p.G962G	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		24	3061	-			962			Cytoplasmic (Potential).		A6NIN6	Silent	SNP	ENST00000262209.4	37	c.2886C>T	CCDS34908.1																																																																																				PASS	0.418	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		16	65	16	65	---	---	---	---
GDF6	392255	broad.mit.edu	37	8	97172832	97172833	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr8:97172832_97172833GA>AT	ENST00000287020.5	-	1	187_188	c.88_89TC>AT	c.(88-90)TCc>ATc	p.S30I		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	30	Poly-Ser.				activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)		p.S30F(1)|p.S30T(1)|p.S30I(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CGACGAGGAGGATGAGATGGAA	0.644																																						uc003yhp.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|breast(1)|pancreas(1)	3						c.(88-90)TCC>TTC|c.(88-90)TCC>ACC		growth differentiation factor 6 precursor																																				SO:0001583	missense	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97172832G>A|g.chr8:97172833A>T		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.88_89delinsAT	8.37:g.97172832_97172833delinsAT	ENSP00000287020:p.Ser30Ile						p.S30F|p.S30T	NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN			1	189|188	-	Breast(36;2.67e-05)		30			Poly-Ser.		Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.89C>T|c.88T>A	CCDS34926.1																																																																																				PASS	0.644	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		65	73	65	73	---	---	---	---
LYNX1	66004	broad.mit.edu	37	8	143846491	143846491	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr8:143846491G>C	ENST00000335822.5	-	4	849	c.222C>G	c.(220-222)tgC>tgG	p.C74W	LYNX1_ENST00000523332.1_Missense_Mutation_p.A82G|LYNX1_ENST00000317543.7_Missense_Mutation_p.C40W|RP11-706C16.7_ENST00000523657.1_RNA	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1	74	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.C74W(1)|p.C40W(1)		endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGTCCCTCAGGCATCTGGATC	0.617																																						uc003yxb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(220-222)TGC>TGG		Ly-6 neurotoxin-like protein 1 isoform a							76.0	56.0	63.0					8																	143846491		2203	4300	6503	SO:0001583	missense	66004					anchored to membrane|plasma membrane		g.chr8:143846491G>C	AF321824	CCDS6389.1, CCDS34951.1, CCDS34952.1	8q24.3	2008-03-12			ENSG00000180155	ENSG00000180155			29604	protein-coding gene	gene with protein product		606110				12573258, 10402197	Standard	NM_023946		Approved	SLURP2	uc003yxd.1	Q9BZG9	OTTHUMG00000164694	ENST00000335822.5:c.222C>G	8.37:g.143846491G>C	ENSP00000337950:p.Cys74Trp					LYNX1_uc003yxa.2_Missense_Mutation_p.C40W	p.C74W	NM_023946	NP_076435	Q9BZG9	LYNX1_HUMAN			4	849	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		Error:Variant_position_missing_in_Q9BZG9_after_alignment					D3DWI7|G3XAC2|Q86SR0	Missense_Mutation	SNP	ENST00000335822.5	37	c.222C>G	CCDS34951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.757|2.757	-0.258818|-0.258818	0.05791|0.05791	.|.	.|.	ENSG00000180155|ENSG00000180155	ENST00000523332|ENST00000317543;ENST00000335822;ENST00000521396	T|D;D;D	0.53423|0.91945	0.62|-2.94;-2.94;-2.94	3.73|3.73	0.841|0.841	0.18918|0.18918	.|CD59 antigen (1);	.|.	.|.	.|.	.|.	D|D	0.92642|0.92642	0.7662|0.7662	L|L	0.43923|0.43923	1.385|1.385	0.20489|0.20489	N|N	0.999892|0.999892	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.79108	.|0.97;0.992	D|D	0.83467|0.83467	0.0057|0.0057	7|9	0.87932|0.87932	D|D	0|0	.|.	6.5234|6.5234	0.22287|0.22287	0.3369:0.0:0.6631:0.0|0.3369:0.0:0.6631:0.0	.|.	.|74;40	.|G3XAC2;Q86SR0	.|.;SLUR2_HUMAN	G|W	82|40;74;33	ENSP00000428713:A82G|ENSP00000319846:C40W;ENSP00000337950:C74W;ENSP00000428465:C33W	ENSP00000428713:A82G|ENSP00000319846:C40W	A|C	-|-	2|3	0|2	LYNX1|LYNX1	143843493|143843493	0.881000|0.881000	0.30235|0.30235	0.017000|0.017000	0.16124|0.16124	0.007000|0.007000	0.05969|0.05969	1.215000|1.215000	0.32431|0.32431	0.025000|0.025000	0.15241|0.15241	-0.492000|-0.492000	0.04666|0.04666	GCC|TGC		PASS	0.617	LYNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379786.3	NM_177476		3	29	3	29	---	---	---	---
CYC1	1537	broad.mit.edu	37	8	145151504	145151504	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr8:145151504A>T	ENST00000318911.4	+	5	702	c.629A>T	c.(628-630)tAc>tTc	p.Y210F	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	210					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.Y210F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGAGGACTACGTCTTCTCC	0.612											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zaz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(628-630)TAC>TTC		cytochrome c-1							110.0	90.0	97.0					8																	145151504		2203	4300	6503	SO:0001583	missense	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145151504A>T	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.629A>T	8.37:g.145151504A>T	ENSP00000317159:p.Tyr210Phe		OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692	CYC1_uc003zay.2_Missense_Mutation_p.Y151F	p.Y210F	NM_001916	NP_001907	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	672	+	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)		210					Q5U062|Q6FHS7	Missense_Mutation	SNP	ENST00000318911.4	37	c.629A>T	CCDS6415.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.053177	0.75960	.	.	ENSG00000179091	ENST00000318911	T	0.56776	0.44	5.1	5.1	0.69264	Cytochrome c domain (2);	0.000000	0.85682	D	0.000000	T	0.74951	0.3784	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79964	-0.1581	10	0.87932	D	0	-15.9044	12.8434	0.57815	1.0:0.0:0.0:0.0	.	210	P08574	CY1_HUMAN	F	210	ENSP00000317159:Y210F	ENSP00000317159:Y210F	Y	+	2	0	CYC1	145223492	1.000000	0.71417	0.983000	0.44433	0.351000	0.29236	6.880000	0.75578	1.928000	0.55862	0.454000	0.30748	TAC		PASS	0.612	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		32	105	32	105	---	---	---	---
RLN2	6019	broad.mit.edu	37	9	5300201	5300201	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr9:5300201C>A	ENST00000381627.3	-	2	843	c.455G>T	c.(454-456)gGc>gTc	p.G152V	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	152					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.G152V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		AGTATCCAAGCCTAAGTATTT	0.363																																						uc003zja.1																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)GGC>GTC		relaxin 2 isoform 1 preproprotein							131.0	127.0	128.0					9																	5300201		2203	4300	6503	SO:0001583	missense	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5300201C>A		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.455G>T	9.37:g.5300201C>A	ENSP00000371040:p.Gly152Val					RLN2_uc003ziz.1_3'UTR	p.G152V	NM_134441	NP_604390	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	2	455	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	152					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Missense_Mutation	SNP	ENST00000381627.3	37	c.455G>T	CCDS6460.1	.	.	.	.	.	.	.	.	.	.	C	1.557	-0.537730	0.04082	.	.	ENSG00000107014	ENST00000381627	D	0.89050	-2.46	2.92	0.962	0.19643	Insulin-like (3);	3.351630	0.00763	N	0.001148	D	0.86802	0.6020	M	0.68593	2.085	0.09310	N	1	B	0.21688	0.059	B	0.24541	0.054	T	0.62656	-0.6808	10	0.16896	T	0.51	.	5.5025	0.16836	0.0:0.7284:0.0:0.2716	.	152	P04090	REL2_HUMAN	V	152	ENSP00000371040:G152V	ENSP00000371040:G152V	G	-	2	0	RLN2	5290201	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.369000	0.07533	0.249000	0.21456	0.585000	0.79938	GGC		PASS	0.363	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441		120	75	120	75	---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32541488	32541488	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr9:32541488G>A	ENST00000360538.2	-	3	3151	c.3035C>T	c.(3034-3036)cCc>cTc	p.P1012L	TOPORS_ENST00000379858.1_Missense_Mutation_p.P947L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1012					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P1012L(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AATGTTACTGGGCTGGTTCTC	0.423																																						uc003zrb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(3034-3036)CCC>CTC		topoisomerase I binding, arginine/serine-rich							128.0	125.0	126.0					9																	32541488		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32541488G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.3035C>T	9.37:g.32541488G>A	ENSP00000353735:p.Pro1012Leu					TOPORS_uc003zrc.2_Missense_Mutation_p.P945L	p.P1012L	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	3202	-			1012					O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.3035C>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	9.449	1.090036	0.20390	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.13778	2.56;2.57	5.61	1.38	0.22167	.	0.461649	0.18604	N	0.136358	T	0.05640	0.0148	N	0.08118	0	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.29971	-0.9994	10	0.59425	D	0.04	0.5607	2.9314	0.05801	0.1521:0.2601:0.4541:0.1336	.	1012	Q9NS56	TOPRS_HUMAN	L	1012;947	ENSP00000353735:P1012L;ENSP00000369187:P947L	ENSP00000353735:P1012L	P	-	2	0	TOPORS	32531488	0.005000	0.15991	0.108000	0.21378	0.058000	0.15608	1.033000	0.30191	0.384000	0.24942	-0.156000	0.13503	CCC		PASS	0.423	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		64	155	64	155	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79321366	79321366	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr9:79321366C>T	ENST00000376718.3	-	8	5947	c.5824G>A	c.(5824-5826)Gtg>Atg	p.V1942M	PRUNE2_ENST00000428286.1_Missense_Mutation_p.V1583M	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1942					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.V1942M(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCAGCAGACACAAAGGTTTGC	0.483																																						uc010mpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(5824-5826)GTG>ATG		prune homolog 2							92.0	81.0	85.0					9																	79321366		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321366C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5824G>A	9.37:g.79321366C>T	ENSP00000365908:p.Val1942Met					PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.V1942M	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	5948	-			1942					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5824G>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.640|2.640	-0.284330|-0.284330	0.05605|0.05605	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.42900	.|0.96;0.96	6.04|6.04	-8.65|-8.65	0.00870|0.00870	.|.	.|1.201800	.|0.05714	.|N	.|0.596530	T|T	0.13543|0.13543	0.0328|0.0328	N|N	0.03115|0.03115	-0.41|-0.41	0.09310|0.09310	N|N	1|1	.|B	.|0.15473	.|0.013	.|B	.|0.11329	.|0.006	T|T	0.12863|0.12863	-1.0531|-1.0531	5|10	.|0.19590	.|T	.|0.45	1.0053|1.0053	2.8537|2.8537	0.05565|0.05565	0.2388:0.3756:0.2423:0.1433|0.2388:0.3756:0.2423:0.1433	.|.	.|1942	.|Q8WUY3	.|PRUN2_HUMAN	Y|M	1263|1942;1583;1941	.|ENSP00000365908:V1942M;ENSP00000397425:V1583M	.|ENSP00000365908:V1942M	C|V	-|-	2|1	0|0	PRUNE2|PRUNE2	78511186|78511186	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-1.871000|-1.871000	0.01640|0.01640	-1.453000|-1.453000	0.01928|0.01928	-0.367000|-0.367000	0.07326|0.07326	TGT|GTG		PASS	0.483	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		78	49	78	49	---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114246757	114246757	+	Silent	SNP	A	A	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr9:114246757A>C	ENST00000259335.4	-	2	155	c.156T>G	c.(154-156)cgT>cgG	p.R52R	KIAA0368_ENST00000338205.5_5'Flank	NM_001080398.1	NP_001073867.1	Q5VYK3	ECM29_HUMAN	KIAA0368	0					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.R52R(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCAGTCCCGGACGAGCCCCTG	0.711																																						uc004bfe.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)CGT>CGG		KIAA0368 protein							11.0	12.0	12.0					9																	114246757		1838	4070	5908	SO:0001819	synonymous_variant	23392							g.chr9:114246757A>C	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000259335.4:c.156T>G	9.37:g.114246757A>C						KIAA0368_uc010muc.1_5'Flank	p.R52R	NM_001080398	NP_001073867					2	156	-								O15074|Q8WU82	Silent	SNP	ENST00000259335.4	37	c.156T>G	CCDS48006.1																																																																																				PASS	0.711	KIAA0368-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014686		6	9	6	9	---	---	---	---
TRAF1	7185	broad.mit.edu	37	9	123675781	123675781	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr9:123675781G>A	ENST00000373887.3	-	5	2975	c.530C>T	c.(529-531)gCc>gTc	p.A177V	TRAF1_ENST00000546084.1_Missense_Mutation_p.A55V|TRAF1_ENST00000540010.1_Missense_Mutation_p.A177V	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	177					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A177V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						GTGCTGCAGGGCCAGCTCCTC	0.612																																						uc004bku.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(529-531)GCC>GTC		TNF receptor-associated factor 1							42.0	39.0	40.0					9																	123675781		2203	4300	6503	SO:0001583	missense	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123675781G>A	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.530C>T	9.37:g.123675781G>A	ENSP00000362994:p.Ala177Val					TRAF1_uc011lyg.1_Missense_Mutation_p.A55V|TRAF1_uc010mvl.1_Missense_Mutation_p.A177V	p.A177V	NM_005658	NP_005649	Q13077	TRAF1_HUMAN			5	1102	-			177					B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	c.530C>T	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900124	0.52227	.	.	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.48201	1.42;1.42;0.82	5.11	4.21	0.49690	.	0.685951	0.13850	N	0.358392	T	0.40498	0.1119	L	0.53249	1.67	0.39070	D	0.960695	B	0.27380	0.177	B	0.17979	0.02	T	0.23904	-1.0175	10	0.29301	T	0.29	-8.8282	9.798	0.40746	0.0791:0.1404:0.7806:0.0	.	177	Q13077	TRAF1_HUMAN	V	177;177;55	ENSP00000362994:A177V;ENSP00000443183:A177V;ENSP00000438583:A55V	ENSP00000362994:A177V	A	-	2	0	TRAF1	122715602	0.879000	0.30193	1.000000	0.80357	0.992000	0.81027	0.162000	0.16501	1.145000	0.42336	0.455000	0.32223	GCC		PASS	0.612	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658		55	29	55	29	---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126439038	126439038	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr9:126439038C>A	ENST00000373624.2	-	6	534	c.333G>T	c.(331-333)aaG>aaT	p.K111N	DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000394219.3_Missense_Mutation_p.K79N|DENND1A_ENST00000373620.3_Missense_Mutation_p.K111N|DENND1A_ENST00000373618.1_Missense_Mutation_p.K79N|DENND1A_ENST00000394215.2_Missense_Mutation_p.K81N	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	111	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.K111N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGTTAAGCAGCTTATAAAATA	0.318																																						uc004bnz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(331-333)AAG>AAT		DENN/MADD domain containing 1A isoform 1							97.0	100.0	99.0					9																	126439038		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126439038C>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.333G>T	9.37:g.126439038C>A	ENSP00000362727:p.Lys111Asn					DENND1A_uc004bny.1_Intron|DENND1A_uc011lzm.1_Missense_Mutation_p.K79N|DENND1A_uc004boa.1_Missense_Mutation_p.K111N|DENND1A_uc004bob.1_Missense_Mutation_p.K81N|DENND1A_uc004boc.2_Missense_Mutation_p.K79N	p.K111N	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			6	566	-			111			DENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.333G>T	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666649	0.67814	.	.	ENSG00000119522	ENST00000373624;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66	5.99	-0.0752	0.13728	DENN (3);	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	M	0.86268	2.805	0.54753	D	0.999982	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.996;0.999;1.0;1.0;0.995	T	0.31052	-0.9957	10	0.87932	D	0	-22.7998	10.9797	0.47486	0.0:0.4875:0.0:0.5125	.	79;79;81;111;111	Q8TEH3-6;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3	.;.;.;.;DEN1A_HUMAN	N	111;79;111;81;79	ENSP00000362727:K111N;ENSP00000377766:K79N;ENSP00000362722:K111N;ENSP00000377763:K81N;ENSP00000362720:K79N	ENSP00000362720:K79N	K	-	3	2	DENND1A	125478859	0.423000	0.25482	0.939000	0.37840	0.994000	0.84299	-0.401000	0.07232	0.144000	0.18951	0.655000	0.94253	AAG		PASS	0.318	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		52	56	52	56	---	---	---	---
SEC16A	9919	broad.mit.edu	37	9	139369734	139369734	+	Silent	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr9:139369734C>G	ENST00000371706.3	-	1	1833	c.1800G>C	c.(1798-1800)ccG>ccC	p.P600P	SEC16A_ENST00000431893.2_Silent_p.P600P|SEC16A_ENST00000290037.6_Silent_p.P600P|SEC16A_ENST00000313050.7_Silent_p.P778P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	600					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.P778P(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCTCTGCACCGGGGCCGCCG	0.592																																						uc004chx.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(2332-2334)CCG>CCC		SEC16 homolog A							23.0	25.0	24.0					9																	139369734		1948	4140	6088	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139369734C>G	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.1800G>C	9.37:g.139369734C>G						SEC16A_uc004chv.3_Silent_p.P405P|SEC16A_uc004chw.2_Silent_p.P778P|SEC16A_uc010nbn.2_Silent_p.P778P|SEC16A_uc010nbo.1_Silent_p.P778P	p.P778P	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	3	2643	-		Myeloproliferative disorder(178;0.0511)	600					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.2334G>C																																																																																					PASS	0.592	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		9	16	9	16	---	---	---	---
CCDC183	84960	broad.mit.edu	37	9	139693672	139693672	+	Silent	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr9:139693672G>A	ENST00000338005.6	+	2	224	c.189G>A	c.(187-189)aaG>aaA	p.K63K	KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.17_ENST00000456614.2_Silent_p.K119K|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		63								p.K63K(1)|p.K63N(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CTTTGGCCAAGAAGGTACACA	0.652																																						uc004cjf.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(187-189)AAG>AAA		hypothetical protein LOC84960							33.0	41.0	38.0					9																	139693672		1997	4155	6152	SO:0001819	synonymous_variant	84960							g.chr9:139693672G>A																												ENST00000338005.6:c.189G>A	9.37:g.139693672G>A							p.K63K	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	2	237	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	63					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP	ENST00000338005.6	37	c.189G>A	CCDS43906.1																																																																																				PASS	0.652	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			17	18	17	18	---	---	---	---
C9orf172	389813	broad.mit.edu	37	9	139739515	139739515	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr9:139739515C>A	ENST00000436881.1	+	1	649	c.649C>A	c.(649-651)Cgc>Agc	p.R217S		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	217	Pro-rich.							p.R217S(1)		endometrium(2)|large_intestine(1)|lung(6)	9						GCACTGGGCCCGCCCCGCCCC	0.761																																						uc011meh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(649-651)CGC>AGC		chromosome 9 open reading frame 172							3.0	3.0	3.0					9																	139739515		895	2006	2901	SO:0001583	missense	389813							g.chr9:139739515C>A		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.649C>A	9.37:g.139739515C>A	ENSP00000412388:p.Arg217Ser					PHPT1_uc004cjp.2_5'Flank	p.R217S	NM_001080482	NP_001073951	C9J069	CI172_HUMAN			1	649	+			217			Pro-rich.			Missense_Mutation	SNP	ENST00000436881.1	37	c.649C>A	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	12.21	1.870502	0.33069	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	T	0.29158	0.0725	L	0.27053	0.805	0.28287	N	0.923721	B	0.33583	0.418	B	0.33960	0.173	T	0.20042	-1.0287	8	0.66056	D	0.02	.	6.8387	0.23951	0.1974:0.6109:0.1917:0.0	.	217	C9J069	CI172_HUMAN	S	217	.	ENSP00000412388:R217S	R	+	1	0	C9orf172	138859336	0.497000	0.26067	0.886000	0.34754	0.447000	0.32167	1.201000	0.32259	2.013000	0.59113	0.448000	0.29417	CGC		PASS	0.761	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		2	0	2	0	---	---	---	---
FBXW5	54461	broad.mit.edu	37	9	139835710	139835710	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr9:139835710C>A	ENST00000325285.3	-	8	1529	c.1450G>T	c.(1450-1452)Gtg>Ttg	p.V484L	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	484					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)	p.V484L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CACCTGGCCACGAAGTCCCTG	0.716																																						uc004cjx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1450-1452)GTG>TTG		F-box and WD repeat domain containing 5							26.0	23.0	24.0					9																	139835710		2196	4295	6491	SO:0001583	missense	54461						catalytic activity|protein binding	g.chr9:139835710C>A	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1450G>T	9.37:g.139835710C>A	ENSP00000313034:p.Val484Leu					FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_Missense_Mutation_p.V232L|FBXW5_uc004cjz.2_Missense_Mutation_p.V214L	p.V484L	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	8	1601	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	484			WD 2.		B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	ENST00000325285.3	37	c.1450G>T	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477168	0.84640	.	.	ENSG00000159069	ENST00000325285	T	0.58652	0.32	4.24	4.24	0.50183	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.73552	0.3601	M	0.76574	2.34	0.80722	D	1	D;D	0.69078	0.997;0.983	D;P	0.76575	0.988;0.872	T	0.71909	-0.4450	10	0.25106	T	0.35	-17.2872	15.8066	0.78517	0.0:1.0:0.0:0.0	.	349;484	Q59ET5;Q969U6	.;FBXW5_HUMAN	L	484	ENSP00000313034:V484L	ENSP00000313034:V484L	V	-	1	0	FBXW5	138955531	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	5.281000	0.65609	2.204000	0.70986	0.561000	0.74099	GTG		PASS	0.716	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		18	9	18	9	---	---	---	---
TAF3	83860	broad.mit.edu	37	10	7860717	7860717	+	Silent	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:7860717G>T	ENST00000344293.5	+	1	251	c.45G>T	c.(43-45)gcG>gcT	p.A15A		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	15					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.A15A(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TCTCGGTGGCGCAGATCTGCC	0.692																																						uc010qbd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(43-45)GCG>GCT		RNA polymerase II transcription factor TAFII140							30.0	41.0	37.0					10																	7860717		2034	4187	6221	SO:0001819	synonymous_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:7860717G>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.45G>T	10.37:g.7860717G>T							p.A15A	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			1	45	+			15					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	c.45G>T	CCDS41487.1																																																																																				PASS	0.692	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		21	13	21	13	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15614302	15614302	+	Silent	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:15614302G>T	ENST00000378076.3	-	25	2898	c.2545C>A	c.(2545-2547)Cgg>Agg	p.R849R		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	849					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.R849R(1)|p.R849W(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AATTCATCCCGGGCAGAGAAA	0.443																																						uc001ioc.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	ovary(3)|lung(3)	6						c.(2545-2547)CGG>AGG		integrin, alpha 8 precursor							100.0	97.0	98.0					10																	15614302		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15614302G>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2545C>A	10.37:g.15614302G>T						ITGA8_uc010qcb.1_Silent_p.R834R	p.R849R	NM_003638	NP_003629	P53708	ITA8_HUMAN			25	2545	-			849			Extracellular (Potential).		B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.2545C>A	CCDS31155.1																																																																																				PASS	0.443	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		123	195	123	195	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17152948	17152948	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:17152948C>G	ENST00000377833.4	-	9	1050	c.985G>C	c.(985-987)Ggg>Cgg	p.G329R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	329	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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.G329R(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)	TGGGAAGACCCAGGTGTATTC	0.512																																						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.(985-987)GGG>CGG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						91.0	86.0	88.0					10																	17152948		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.chr10:17152948C>G	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.985G>C	10.37:g.17152948C>G	ENSP00000367064:p.Gly329Arg						p.G329R	NM_001081	NP_001072	O60494	CUBN_HUMAN			9	1037	-			329			EGF-like 4; calcium-binding (Potential).		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.985G>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442963	0.63067	.	.	ENSG00000107611	ENST00000377833	D	0.99557	-6.16	5.83	5.83	0.93111	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.000000	0.46145	D	0.000316	D	0.99813	0.9918	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97139	0.9823	10	0.87932	D	0	.	20.1184	0.97949	0.0:1.0:0.0:0.0	.	329	O60494	CUBN_HUMAN	R	329	ENSP00000367064:G329R	ENSP00000367064:G329R	G	-	1	0	CUBN	17192954	1.000000	0.71417	0.393000	0.26258	0.020000	0.10135	7.673000	0.83973	2.775000	0.95449	0.650000	0.86243	GGG		PASS	0.512	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		59	157	59	157	---	---	---	---
DNAJC1	64215	broad.mit.edu	37	10	22209861	22209861	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:22209861C>G	ENST00000376980.3	-	4	693	c.403G>C	c.(403-405)Gat>Cat	p.D135H	DNAJC1_ENST00000376946.1_3'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	135					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D135H(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TGTCGCCAATCTGGAAGTCCA	0.378																																						uc001irc.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(403-405)GAT>CAT		DnaJ (Hsp40) homolog, subfamily C, member 1							75.0	78.0	77.0					10																	22209861		2203	4300	6503	SO:0001583	missense	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22209861C>G	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.403G>C	10.37:g.22209861C>G	ENSP00000366179:p.Asp135His					DNAJC1_uc001ird.2_Missense_Mutation_p.D21H	p.D135H	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN			4	690	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	135			Lumenal (By similarity).		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.403G>C	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150293	0.78001	.	.	ENSG00000136770	ENST00000376980	T	0.38887	1.11	5.31	5.31	0.75309	Heat shock protein DnaJ, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68678	-0.5345	10	0.59425	D	0.04	-8.2379	19.3377	0.94326	0.0:1.0:0.0:0.0	.	135	Q96KC8	DNJC1_HUMAN	H	135	ENSP00000366179:D135H	ENSP00000366179:D135H	D	-	1	0	DNAJC1	22249867	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.731000	0.84895	2.638000	0.89438	0.563000	0.77884	GAT		PASS	0.378	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		46	100	46	100	---	---	---	---
YME1L1	10730	broad.mit.edu	37	10	27425295	27425295	+	Silent	SNP	A	A	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:27425295A>C	ENST00000326799.3	-	6	769	c.621T>G	c.(619-621)ggT>ggG	p.G207G	YME1L1_ENST00000376016.3_Silent_p.G150G|YME1L1_ENST00000375972.3_Silent_p.G117G|YME1L1_ENST00000463270.1_5'Flank	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	207					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.G207G(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAGTTTTAAAACCCCGAGACT	0.373																																						uc001iti.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(619-621)GGT>GGG		YME1-like 1 isoform 1							98.0	90.0	92.0					10																	27425295		2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27425295A>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.621T>G	10.37:g.27425295A>C						YME1L1_uc001itj.2_Silent_p.G150G|YME1L1_uc010qdl.1_Silent_p.G117G|YME1L1_uc009xkv.2_RNA	p.G207G	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN			6	803	-			207					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.621T>G	CCDS7152.1																																																																																				PASS	0.373	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		14	116	14	116	---	---	---	---
ZFAND4	93550	broad.mit.edu	37	10	46121631	46121631	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:46121631C>A	ENST00000344646.5	-	7	1855	c.1640G>T	c.(1639-1641)cGg>cTg	p.R547L	ZFAND4_ENST00000374366.3_Missense_Mutation_p.R473L|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	547							zinc ion binding (GO:0008270)	p.R547L(1)									TGTGATATCCCGAGCCTCAAC	0.398																																						uc001jcp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1639-1641)CGG>CTG		AN1, ubiquitin-like, homolog							85.0	88.0	87.0					10																	46121631		2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46121631C>A	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1640G>T	10.37:g.46121631C>A	ENSP00000339484:p.Arg547Leu					ANUBL1_uc001jcl.3_Missense_Mutation_p.R67L|ANUBL1_uc001jcm.3_Missense_Mutation_p.R547L|ANUBL1_uc009xmu.2_Missense_Mutation_p.R473L|ANUBL1_uc001jcn.3_Missense_Mutation_p.R473L|ANUBL1_uc001jco.3_Intron	p.R547L	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN			7	1882	-			547					A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.1640G>T	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754056	0.69648	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.38401	1.14;1.19	5.73	2.84	0.33178	.	3.738960	0.00721	N	0.000892	T	0.54464	0.1860	M	0.75264	2.295	0.50467	D	0.999874	D	0.58970	0.984	P	0.51999	0.687	T	0.23013	-1.0200	10	0.87932	D	0	-6.0977	9.1618	0.37028	0.0:0.7523:0.0:0.2477	.	547	Q86XD8	ANUB1_HUMAN	L	547;473;429	ENSP00000339484:R547L;ENSP00000363486:R473L	ENSP00000339484:R547L	R	-	2	0	ANUBL1	45441637	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	3.583000	0.53928	0.332000	0.23536	-0.224000	0.12420	CGG		PASS	0.398	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		136	201	136	201	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73563143	73563143	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:73563143G>A	ENST00000224721.6	+	54	7858	c.7853G>A	c.(7852-7854)cGc>cAc	p.R2618H	CDH23_ENST00000398788.3_Missense_Mutation_p.R373H|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2613	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.R2618H(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTCTTTGTGCGCCCACCCAAC	0.612																																						uc001jrx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(7837-7839)CGC>CAC		cadherin-like 23 isoform 1 precursor							35.0	39.0	38.0					10																	73563143		2061	4196	6257	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73563143G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7853G>A	10.37:g.73563143G>A	ENSP00000224721:p.Arg2618His					CDH23_uc001jsg.3_Missense_Mutation_p.R373H|CDH23_uc001jsh.3_Missense_Mutation_p.R373H|CDH23_uc001jsi.3_Missense_Mutation_p.R373H	p.R2613H	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			53	8215	+			2613			Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.7838G>A		.	.	.	.	.	.	.	.	.	.	G	15.11	2.737396	0.49045	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.61274	0.12	4.23	3.31	0.37934	Cadherin (1);Cadherin-like (1);	0.063358	0.64402	D	0.000011	T	0.56731	0.2005	L	0.42632	1.34	0.53005	D	0.999968	P;D	0.56746	0.923;0.977	P;P	0.51016	0.656;0.482	T	0.53725	-0.8398	10	0.27785	T	0.31	.	13.6478	0.62292	0.0:0.0:0.8438:0.1562	.	2613;2613	E9PEX1;Q9H251	.;CAD23_HUMAN	H	2618;2613;2616;373	ENSP00000381768:R373H	ENSP00000224721:R2618H	R	+	2	0	CDH23	73233149	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	6.300000	0.72776	1.100000	0.41517	-0.332000	0.08345	CGC		PASS	0.612	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		3	7	3	7	---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96534956	96534956	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:96534956G>C	ENST00000371321.3	+	2	392	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	104					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.E104Q(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	CCCACTGGCTGAAAGAGCTAA	0.517																																						uc010qnz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(310-312)GAA>CAA		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						210.0	196.0	201.0					10																	96534956		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96534956G>C	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.310G>C	10.37:g.96534956G>C	ENSP00000360372:p.Glu104Gln					CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.E82Q	p.E104Q	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	2	310	+		Colorectal(252;0.09)	104					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.310G>C	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	6.809	0.518384	0.13005	.	.	ENSG00000165841	ENST00000371321	T	0.69561	-0.41	3.21	2.29	0.28610	.	78.575900	0.02421	U	0.082544	T	0.57844	0.2081	L	0.33137	0.985	0.09310	N	1	B	0.09022	0.002	B	0.15870	0.014	T	0.38090	-0.9677	10	0.30078	T	0.28	.	8.3653	0.32382	0.1241:0.0:0.8759:0.0	.	104	P33261	CP2CJ_HUMAN	Q	104	ENSP00000360372:E104Q	ENSP00000360372:E104Q	E	+	1	0	CYP2C19	96524946	0.000000	0.05858	0.007000	0.13788	0.019000	0.09904	0.773000	0.26661	0.686000	0.31488	0.405000	0.27470	GAA		PASS	0.517	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		138	266	138	266	---	---	---	---
TCTN3	26123	broad.mit.edu	37	10	97440360	97440360	+	Missense_Mutation	SNP	T	T	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:97440360T>G	ENST00000371217.5	-	13	1482	c.1459A>C	c.(1459-1461)Aac>Cac	p.N487H	TCTN3_ENST00000430368.2_Missense_Mutation_p.N339H|TCTN3_ENST00000265993.9_Missense_Mutation_p.N505H			Q6NUS6	TECT3_HUMAN	tectonic family member 3	487					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.N487H(2)|p.N309H(1)		breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		GAAGTACAGTTTATAGCCTGC	0.448																																						uc001klb.3																			3	Substitution - Missense(3)		lung(3)		0						c.(1459-1461)AAC>CAC		tectonic 3 isoform a precursor							128.0	121.0	123.0					10																	97440360		2203	4300	6503	SO:0001583	missense	26123				apoptosis	integral to membrane		g.chr10:97440360T>G	AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"""Tectonic proteins"""	24519	protein-coding gene	gene with protein product		613847	"""chromosome 10 open reading frame 61"""	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.1459A>C	10.37:g.97440360T>G	ENSP00000360261:p.Asn487His					TCTN3_uc001kla.3_Missense_Mutation_p.N331H|TCTN3_uc010qoi.1_Missense_Mutation_p.N339H	p.N487H	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	13	1703	-		Colorectal(252;0.0815)	487			Extracellular (Potential).		A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Missense_Mutation	SNP	ENST00000371217.5	37	c.1459A>C	CCDS31258.2	.	.	.	.	.	.	.	.	.	.	T	1.759	-0.487322	0.04352	.	.	ENSG00000119977	ENST00000265993;ENST00000430368;ENST00000371217;ENST00000343162	D	0.83837	-1.77	5.04	1.6	0.23607	.	0.899746	0.09855	N	0.746988	T	0.56572	0.1994	N	0.01640	-0.785	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.48068	-0.9067	10	0.30854	T	0.27	-13.8032	4.641	0.12548	0.0:0.2251:0.2638:0.5111	.	339;487;309	B4DR81;Q6NUS6;Q6NUS6-3	.;TECT3_HUMAN;.	H	487;339;505;309	ENSP00000265993:N487H	ENSP00000265993:N487H	N	-	1	0	TCTN3	97430350	0.009000	0.17119	0.116000	0.21606	0.158000	0.22134	0.750000	0.26334	0.507000	0.28148	0.533000	0.62120	AAC		PASS	0.448	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000471858.1	NM_015631		157	213	157	213	---	---	---	---
CRTAC1	55118	broad.mit.edu	37	10	99695956	99695956	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:99695956T>C	ENST00000370597.3	-	3	747	c.392A>G	c.(391-393)tAc>tGc	p.Y131C	CRTAC1_ENST00000298819.4_Missense_Mutation_p.Y131C|CRTAC1_ENST00000370591.2_Missense_Mutation_p.Y131C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	131						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.Y131C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GTTGAGGAAGTAGATCTCCTC	0.632																																						uc001kou.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(391-393)TAC>TGC		cartilage acidic protein 1 precursor							103.0	76.0	85.0					10																	99695956		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99695956T>C	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.392A>G	10.37:g.99695956T>C	ENSP00000359629:p.Tyr131Cys					CRTAC1_uc001kov.2_Missense_Mutation_p.Y120C|CRTAC1_uc001kot.1_5'UTR	p.Y131C	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	3	748	-		Colorectal(252;0.24)	131			FG-GAP 2; atypical.		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.392A>G	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.236380	0.79800	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.57755	0.2075	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.971;0.983	T	0.68356	-0.5430	10	0.87932	D	0	-18.7729	14.5044	0.67743	0.0:0.0:0.0:1.0	.	131;131	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	C	27;131;131;123;131	ENSP00000408445:Y27C;ENSP00000359629:Y131C;ENSP00000298819:Y131C;ENSP00000310810:Y123C;ENSP00000359623:Y131C	ENSP00000298819:Y131C	Y	-	2	0	CRTAC1	99685946	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.879000	0.87236	1.841000	0.53522	0.379000	0.24179	TAC		PASS	0.632	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		30	78	30	78	---	---	---	---
PDZD7	79955	broad.mit.edu	37	10	102781698	102781698	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:102781698C>T	ENST00000370215.3	-	6	949	c.724G>A	c.(724-726)Gac>Aac	p.D242N		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	242	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.D242N(2)|p.D242Y(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCACCATGGTCCACTCTGAGG	0.627																																						uc001kso.1																			4	Substitution - Missense(4)		lung(4)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(724-726)GAC>AAC		PDZ domain containing 7							96.0	74.0	81.0					10																	102781698		2203	4300	6503	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102781698C>T	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.724G>A	10.37:g.102781698C>T	ENSP00000359234:p.Asp242Asn					PDZD7_uc001ksn.2_Missense_Mutation_p.D242N	p.D242N	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	6	939	-			242			PDZ 2.		D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.724G>A	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940142	0.92526	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.26518	1.73	5.36	5.36	0.76844	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	L	0.49350	1.555	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.973	T	0.38156	-0.9674	10	0.52906	T	0.07	.	19.0744	0.93154	0.0:1.0:0.0:0.0	.	242;242	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	N	242	ENSP00000359234:D242N	ENSP00000359234:D242N	D	-	1	0	PDZD7	102771688	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	7.146000	0.77373	2.515000	0.84797	0.462000	0.41574	GAC		PASS	0.627	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		42	77	42	77	---	---	---	---
LBX1	10660	broad.mit.edu	37	10	102987051	102987051	+	Silent	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:102987051G>A	ENST00000370193.2	-	2	1800	c.822C>T	c.(820-822)gaC>gaT	p.D274D	LBX1-AS1_ENST00000546988.1_RNA|LBX1-AS1_ENST00000547077.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	274	Asp/Glu-rich (highly acidic).				anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D274D(1)		large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CGATCTCTTCGTCTTCCTCGT	0.726																																						uc001ksx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(820-822)GAC>GAT		ladybird homeobox 1							37.0	43.0	41.0					10																	102987051		2196	4289	6485	SO:0001819	synonymous_variant	10660				muscle organ development		sequence-specific DNA binding	g.chr10:102987051G>A	X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"""Homeoboxes / ANTP class : NKL subclass"""	16960	protein-coding gene	gene with protein product		604255	"""ladybird homeobox homolog 1 (Drosophila)"""			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.822C>T	10.37:g.102987051G>A						uc010qpy.1_5'Flank	p.D274D	NM_006562	NP_006553	P52954	LBX1_HUMAN		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)	2	967	-		Colorectal(252;0.234)	274			Asp/Glu-rich (highly acidic).		B9EGA2|Q05BB2	Silent	SNP	ENST00000370193.2	37	c.822C>T	CCDS31270.1																																																																																				PASS	0.726	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049928.3	NM_006562		67	73	67	73	---	---	---	---
PNLIPRP3	119548	broad.mit.edu	37	10	118203937	118203937	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:118203937G>T	ENST00000369230.3	+	4	514	c.368G>T	c.(367-369)tGg>tTg	p.W123L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	123					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.W123L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AATTTAGATTGGATCAACGGT	0.363																																						uc001lcl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(367-369)TGG>TTG		pancreatic lipase-related protein 3 precursor							142.0	133.0	136.0					10																	118203937		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118203937G>T	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.368G>T	10.37:g.118203937G>T	ENSP00000358232:p.Trp123Leu						p.W123L	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	4	469	+			123						Missense_Mutation	SNP	ENST00000369230.3	37	c.368G>T	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914130	0.52546	.	.	ENSG00000203837	ENST00000369230	D	0.90504	-2.68	4.85	1.93	0.25924	Lipase, N-terminal (1);	0.000000	0.56097	D	0.000024	D	0.93552	0.7942	M	0.78801	2.425	0.34978	D	0.753818	D	0.89917	1.0	D	0.97110	1.0	D	0.93010	0.6431	10	0.87932	D	0	.	6.4782	0.22047	0.1616:0.0:0.6917:0.1467	.	123	Q17RR3	LIPR3_HUMAN	L	123	ENSP00000358232:W123L	ENSP00000358232:W123L	W	+	2	0	PNLIPRP3	118193927	1.000000	0.71417	0.034000	0.17996	0.005000	0.04900	2.260000	0.43267	0.188000	0.20168	-0.229000	0.12294	TGG		PASS	0.363	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		98	186	98	186	---	---	---	---
HSPA12A	259217	broad.mit.edu	37	10	118434813	118434813	+	Silent	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:118434813G>T	ENST00000369209.3	-	12	1611	c.1507C>A	c.(1507-1509)Cgg>Agg	p.R503R	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	503						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R1124R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ATGATGATCCGGCACTGGTCC	0.672																																						uc001lct.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1507-1509)CGG>AGG		heat shock 70kDa protein 12A							26.0	31.0	29.0					10																	118434813		2005	4163	6168	SO:0001819	synonymous_variant	259217						ATP binding	g.chr10:118434813G>T	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1507C>A	10.37:g.118434813G>T						HSPA12A_uc001lcu.2_Silent_p.R420R	p.R503R	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	1612	-			503						Silent	SNP	ENST00000369209.3	37	c.1507C>A	CCDS41569.1																																																																																				PASS	0.672	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		24	32	24	32	---	---	---	---
PTPRE	5791	broad.mit.edu	37	10	129877825	129877825	+	Splice_Site	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr10:129877825G>A	ENST00000254667.3	+	20	2173	c.1894G>A	c.(1894-1896)Gcc>Acc	p.A632T	PTPRE_ENST00000306042.5_Splice_Site_p.A574T|PTPRE_ENST00000419012.2_Splice_Site_p.A632T	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	632	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A632T(1)|p.A574T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	TCTCTGCAGTGCCGGAGCTGG	0.483																																					Colon(52;977 1184 20575 41685)	uc001lkb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1894-1896)GCC>ACC		protein tyrosine phosphatase, receptor type, E							97.0	95.0	96.0					10																	129877825		2203	4300	6503	SO:0001630	splice_region_variant	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129877825G>A	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1893-1G>A	10.37:g.129877825G>A						PTPRE_uc009yat.2_Missense_Mutation_p.A643T|PTPRE_uc009yau.2_Missense_Mutation_p.A632T|PTPRE_uc001lkd.2_Missense_Mutation_p.A574T|PTPRE_uc010quq.1_Intron	p.A632T	NM_006504	NP_006495	P23469	PTPRE_HUMAN			20	2173	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	632			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1894G>A	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645053	0.87859	.	.	ENSG00000132334	ENST00000254667;ENST00000419012;ENST00000306042	T;T;T	0.18174	2.23;2.23;2.23	4.65	4.65	0.58169	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.89904	3.07	0.80722	D	1	D;D;D	0.61697	0.978;0.99;0.978	P;P;P	0.59595	0.86;0.845;0.86	T	0.57341	-0.7828	10	0.52906	T	0.07	.	18.0677	0.89396	0.0:0.0:1.0:0.0	.	632;574;632	Q5VWH4;P23469-2;P23469	.;.;PTPRE_HUMAN	T	632;632;574	ENSP00000254667:A632T;ENSP00000402337:A632T;ENSP00000303350:A574T	ENSP00000254667:A632T	A	+	1	0	PTPRE	129767815	1.000000	0.71417	0.879000	0.34478	0.689000	0.40095	9.519000	0.98025	2.560000	0.86352	0.655000	0.94253	GCC		PASS	0.483	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1		Missense_Mutation	71	169	71	169	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6648382	6648382	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:6648382C>T	ENST00000299441.3	-	14	6299	c.5888G>A	c.(5887-5889)aGt>aAt	p.S1963N		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1963					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.S1963N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGCAGAGGACTGGTGGGGAA	0.617																																						uc001mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(5887-5889)AGT>AAT		dachsous 1 precursor							83.0	76.0	78.0					11																	6648382		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6648382C>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5888G>A	11.37:g.6648382C>T	ENSP00000299441:p.Ser1963Asn						p.S1963N	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	14	6298	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1963			Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.5888G>A	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	4.474	0.087767	0.08583	.	.	ENSG00000166341	ENST00000299441	T	0.61158	0.13	5.18	5.18	0.71444	Cadherin (1);Cadherin-like (1);	0.000000	0.56097	D	0.000038	T	0.49218	0.1544	L	0.49513	1.565	0.26929	N	0.966515	P	0.44195	0.828	B	0.38500	0.275	T	0.49254	-0.8959	10	0.12103	T	0.63	.	15.9972	0.80260	0.0:1.0:0.0:0.0	.	1963	Q96JQ0	PCD16_HUMAN	N	1963	ENSP00000299441:S1963N	ENSP00000299441:S1963N	S	-	2	0	DCHS1	6604958	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.584000	0.67490	2.700000	0.92200	0.462000	0.41574	AGT		PASS	0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		48	33	48	33	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6652605	6652605	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:6652605T>A	ENST00000299441.3	-	8	4120	c.3709A>T	c.(3709-3711)Acg>Tcg	p.T1237S	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1237	Cadherin 12. {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.T1237S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGAGTCGTCACCAGTGTT	0.537																																						uc001mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(3709-3711)ACG>TCG		dachsous 1 precursor							181.0	151.0	161.0					11																	6652605		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6652605T>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3709A>T	11.37:g.6652605T>A	ENSP00000299441:p.Thr1237Ser						p.T1237S	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	8	4119	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1237			Cadherin 12.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.3709A>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.565740	0.27915	.	.	ENSG00000166341	ENST00000299441	T	0.52057	0.68	5.33	4.17	0.49024	Cadherin (3);Cadherin-like (1);	0.158330	0.29551	N	0.011826	T	0.41190	0.1148	M	0.65498	2.005	0.22552	N	0.998993	B	0.26775	0.159	B	0.24848	0.056	T	0.28554	-1.0040	10	0.22706	T	0.39	.	6.9383	0.24478	0.1484:0.0:0.1549:0.6967	.	1237	Q96JQ0	PCD16_HUMAN	S	1237	ENSP00000299441:T1237S	ENSP00000299441:T1237S	T	-	1	0	DCHS1	6609181	0.577000	0.26708	0.982000	0.44146	0.631000	0.37964	1.728000	0.38105	1.006000	0.39211	0.533000	0.62120	ACG		PASS	0.537	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		143	98	143	98	---	---	---	---
GALNT18	374378	broad.mit.edu	37	11	11292798	11292798	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:11292798C>A	ENST00000227756.4	-	11	2128	c.1717G>T	c.(1717-1719)Gag>Tag	p.E573*		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	573	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E573*(1)									TCCTGCAGCTCCAGACAGCGC	0.602																																						uc001mjo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1717-1719)GAG>TAG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							103.0	95.0	97.0					11																	11292798		2201	4294	6495	SO:0001587	stop_gained	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11292798C>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1717G>T	11.37:g.11292798C>A	ENSP00000227756:p.Glu573*						p.E573*	NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	11	2138	-			573			Lumenal (Potential).|Ricin B-type lectin.		O95903|Q8NDY9	Nonsense_Mutation	SNP	ENST00000227756.4	37	c.1717G>T	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	c	41	8.706140	0.98922	.	.	ENSG00000110328	ENST00000227756	.	.	.	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	14.6932	0.69101	0.0:1.0:0.0:0.0	.	.	.	.	X	573	.	ENSP00000227756:E573X	E	-	1	0	GALNTL4	11249374	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.154000	0.77437	2.232000	0.73038	0.450000	0.29827	GAG		PASS	0.602	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		96	70	96	70	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55111377	55111377	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:55111377C>A	ENST00000314721.2	+	1	751	c.701C>A	c.(700-702)gCc>gAc	p.A234D		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A234D(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AGGCATAAAGCCCTGCCTACC	0.413																																						uc010rie.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(700-702)GCC>GAC		olfactory receptor, family 4, subfamily A,							167.0	155.0	159.0					11																	55111377		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111377C>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.701C>A	11.37:g.55111377C>A	ENSP00000325128:p.Ala234Asp						p.A234D	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	701	+			234			Helical; Name=6; (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.701C>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	c	11.49	1.653445	0.29425	.	.	ENSG00000181961	ENST00000314721	T	0.00358	7.88	2.54	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01523	0.0049	H	0.99238	4.48	0.25275	N	0.989489	D	0.89917	1.0	D	0.83275	0.996	T	0.24512	-1.0158	9	0.87932	D	0	.	8.758	0.34656	0.0:0.7635:0.2364:0.0	.	234	Q8NH70	O4A16_HUMAN	D	234	ENSP00000325128:A234D	ENSP00000325128:A234D	A	+	2	0	OR4A16	54867953	0.996000	0.38824	0.945000	0.38365	0.264000	0.26372	3.575000	0.53870	0.356000	0.24157	0.423000	0.28283	GCC		PASS	0.413	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		80	180	80	180	---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703186	55703186	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:55703186G>A	ENST00000301532.3	-	1	690	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	231					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.R231G(1)|p.R231C(1)|p.R231S(1)		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						CTGAAAGAGCGGATCTTTAAG	0.453																																						uc010ris.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(691-693)CGC>TGC		olfactory receptor, family 5, subfamily I,							51.0	52.0	52.0					11																	55703186		2201	4296	6497	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703186G>A	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.691C>T	11.37:g.55703186G>A	ENSP00000301532:p.Arg231Cys						p.R231C	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	691	-			231			Cytoplasmic (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.691C>T	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509087	0.27036	.	.	ENSG00000167825	ENST00000301532	T	0.40225	1.04	5.16	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.141093	0.33180	N	0.005192	T	0.54095	0.1837	M	0.74881	2.28	0.09310	N	1	D	0.71674	0.998	P	0.54210	0.745	T	0.51896	-0.8647	10	0.59425	D	0.04	.	11.1547	0.48480	0.0:0.0:0.6659:0.3341	.	231	Q13606	OR5I1_HUMAN	C	231	ENSP00000301532:R231C	ENSP00000301532:R231C	R	-	1	0	OR5I1	55459762	0.000000	0.05858	0.175000	0.22980	0.088000	0.18126	0.636000	0.24644	1.275000	0.44379	0.643000	0.83706	CGC		PASS	0.453	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		21	26	21	26	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904850	55904850	+	Silent	SNP	C	C	T	rs377708276		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:55904850C>T	ENST00000301529.1	-	1	344	c.345G>A	c.(343-345)ctG>ctA	p.L115L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L115L(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)					CCATCACAGCCAGCATCATTA	0.483																																						uc010riz.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(343-345)CTG>CTA		olfactory receptor, family 8, subfamily J,							152.0	140.0	144.0					11																	55904850		2201	4296	6497	SO:0001819	synonymous_variant	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904850C>T		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.345G>A	11.37:g.55904850C>T							p.L115L	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	345	-	Esophageal squamous(21;0.00693)		115			Helical; Name=3; (Potential).		Q6IFB6|Q96RC2	Silent	SNP	ENST00000301529.1	37	c.345G>A	CCDS31520.1																																																																																				PASS	0.483	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		112	205	112	205	---	---	---	---
OR5B17	219965	broad.mit.edu	37	11	58125912	58125912	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:58125912C>G	ENST00000357377.3	-	1	630	c.631G>C	c.(631-633)Gtt>Ctt	p.V211L		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V211L(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATCAAGGTAACAAGAAGTGCA	0.383																																						uc010rke.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(631-633)GTT>CTT		olfactory receptor, family 5, subfamily B,							72.0	66.0	68.0					11																	58125912		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58125912C>G	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.631G>C	11.37:g.58125912C>G	ENSP00000349945:p.Val211Leu						p.V211L	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	631	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	211			Helical; Name=5; (Potential).		Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.631G>C	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	c	8.452	0.853290	0.17106	.	.	ENSG00000197786	ENST00000357377	T	0.36157	1.27	3.09	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.487767	0.15228	U	0.273591	T	0.21921	0.0528	N	0.20574	0.59	0.09310	N	1	B	0.26400	0.148	B	0.33690	0.168	T	0.21965	-1.0230	10	0.56958	D	0.05	-19.3186	3.0973	0.06314	0.3123:0.4472:0.0:0.2405	.	211	Q8NGF7	OR5BH_HUMAN	L	211	ENSP00000349945:V211L	ENSP00000349945:V211L	V	-	1	0	OR5B17	57882488	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.566000	0.02148	0.503000	0.28060	-0.384000	0.06662	GTT		PASS	0.383	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		65	92	65	92	---	---	---	---
OR5A2	219981	broad.mit.edu	37	11	59189633	59189633	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:59189633G>C	ENST00000302040.4	-	1	816	c.794C>G	c.(793-795)tCc>tGc	p.S265C		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S265C(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GGAGTAGCTGGAACTGGGTCG	0.488																																						uc010rkt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)TCC>TGC		olfactory receptor, family 5, subfamily A,							88.0	85.0	86.0					11																	59189633		2201	4295	6496	SO:0001583	missense	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59189633G>C	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.794C>G	11.37:g.59189633G>C	ENSP00000303834:p.Ser265Cys						p.S265C	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	794	-			265			Extracellular (Potential).		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	ENST00000302040.4	37	c.794C>G	CCDS31560.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175061	0.78564	.	.	ENSG00000172324	ENST00000302040	T	0.00277	8.34	5.56	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33980	U	0.004364	T	0.00754	0.0025	M	0.91459	3.21	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.24012	-1.0172	10	0.87932	D	0	.	9.7214	0.40306	0.2328:0.0:0.7672:0.0	.	265	Q8NGI9	OR5A2_HUMAN	C	265	ENSP00000303834:S265C	ENSP00000303834:S265C	S	-	2	0	OR5A2	58946209	0.304000	0.24472	0.000000	0.03702	0.991000	0.79684	3.227000	0.51262	0.383000	0.24910	0.650000	0.86243	TCC		PASS	0.488	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1	NM_001001954		51	101	51	101	---	---	---	---
MS4A8	83661	broad.mit.edu	37	11	60470880	60470880	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:60470880C>A	ENST00000300226.2	+	3	452	c.249C>A	c.(247-249)caC>caA	p.H83Q		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	83				H -> R (in Ref. 3; AAH22895). {ECO:0000305}.		integral component of membrane (GO:0016021)		p.H83Q(1)									GCCTGGCTCACATCGGCCTCG	0.552																																						uc001npv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)CAC>CAA		membrane-spanning 4-domains, subfamily A, member							121.0	110.0	114.0					11																	60470880		2203	4300	6503	SO:0001583	missense	83661					integral to membrane	receptor activity	g.chr11:60470880C>A	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.249C>A	11.37:g.60470880C>A	ENSP00000300226:p.His83Gln					MS4A8B_uc009yne.1_Missense_Mutation_p.H83Q	p.H83Q	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN			3	452	+			83	H -> R (in Ref. 3; AAH22895).		Helical; (Potential).		Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	c.249C>A	CCDS7990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.10|12.10	1.835294|1.835294	0.32421|0.32421	.|.	.|.	ENSG00000166959|ENSG00000166959	ENST00000300226;ENST00000529752|ENST00000525458	T;T|.	0.02395|.	4.31;4.31|.	3.62|3.62	2.67|2.67	0.31697|0.31697	.|.	0.476645|.	0.23688|.	N|.	0.045557|.	T|T	0.57272|0.57272	0.2042|0.2042	M|M	0.79805|0.79805	2.47|2.47	0.30757|0.30757	N|N	0.744506|0.744506	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.79784|.	0.977;0.993|.	T|T	0.60125|0.60125	-0.7324|-0.7324	10|5	0.30854|.	T|.	0.27|.	-20.7311|-20.7311	7.4732|7.4732	0.27361|0.27361	0.0:0.8639:0.0:0.1361|0.0:0.8639:0.0:0.1361	.|.	83;83|.	E9PQE1;Q9BY19|.	.;M4A8B_HUMAN|.	Q|K	83|65	ENSP00000300226:H83Q;ENSP00000436857:H83Q|.	ENSP00000300226:H83Q|.	H|T	+|+	3|2	2|0	MS4A8B|MS4A8B	60227456|60227456	0.719000|0.719000	0.27986|0.27986	0.911000|0.911000	0.35937|0.35937	0.071000|0.071000	0.16799|0.16799	0.915000|0.915000	0.28638|0.28638	1.745000|1.745000	0.51790|0.51790	0.491000|0.491000	0.48974|0.48974	CAC|ACA		PASS	0.552	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			76	119	76	119	---	---	---	---
RAB3IL1	5866	broad.mit.edu	37	11	61672267	61672267	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:61672267G>C	ENST00000394836.2	-	6	902	c.745C>G	c.(745-747)Cga>Gga	p.R249G	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.R223G	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	249					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R249G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						ACGTCCTCTCGGTACACCCTT	0.667																																						uc001nso.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(745-747)CGA>GGA		RAB3A interacting protein (rabin3)-like 1							29.0	29.0	29.0					11																	61672267		2202	4299	6501	SO:0001583	missense	5866						protein binding	g.chr11:61672267G>C	AF084557	CCDS8014.1, CCDS60809.1	11q12.2	2008-02-01			ENSG00000167994	ENSG00000167994			9780	protein-coding gene	gene with protein product							Standard	NM_013401		Approved		uc001nso.4	Q8TBN0	OTTHUMG00000167524	ENST00000394836.2:c.745C>G	11.37:g.61672267G>C	ENSP00000378313:p.Arg249Gly					RAB3IL1_uc001nsp.2_Missense_Mutation_p.R223G	p.R249G	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN			6	903	-			249					Q86V32|Q9P1Q8	Missense_Mutation	SNP	ENST00000394836.2	37	c.745C>G	CCDS8014.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667725	0.47677	.	.	ENSG00000167994	ENST00000394836;ENST00000301773	T;T	0.45276	0.9;0.9	5.1	4.13	0.48395	.	0.057422	0.64402	D	0.000001	T	0.43144	0.1234	M	0.66506	2.035	0.41534	D	0.988473	B;P	0.45428	0.186;0.858	B;B	0.40702	0.205;0.338	T	0.49661	-0.8916	10	0.41790	T	0.15	-19.6431	15.2183	0.73288	0.0:0.0:0.8593:0.1407	.	223;249	Q8TBN0-2;Q8TBN0	.;R3GEF_HUMAN	G	249;223	ENSP00000378313:R249G;ENSP00000301773:R223G	ENSP00000301773:R223G	R	-	1	2	RAB3IL1	61428843	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.265000	0.51561	2.538000	0.85594	0.462000	0.41574	CGA		PASS	0.667	RAB3IL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394917.1	NM_013401		4	18	4	18	---	---	---	---
MUS81	80198	broad.mit.edu	37	11	65630596	65630596	+	Silent	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:65630596G>T	ENST00000308110.4	+	7	1015	c.666G>T	c.(664-666)ctG>ctT	p.L222L	MUS81_ENST00000533035.1_Silent_p.L147L|CFL1_ENST00000534769.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	222	Interaction with BLM.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L222L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CAGAAGGCCTGAGCTTGCTGA	0.622								Homologous recombination																														uc001ofv.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(664-666)CTG>CTT	Homologous_recombination	MUS81 endonuclease homolog							51.0	52.0	52.0					11																	65630596		2201	4296	6497	SO:0001819	synonymous_variant	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65630596G>T		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.666G>T	11.37:g.65630596G>T						MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'UTR	p.L222L	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	7	1019	+			222			Interaction with BLM.		Q9H7D9	Silent	SNP	ENST00000308110.4	37	c.666G>T	CCDS8115.1	.	.	.	.	.	.	.	.	.	.	g	9.849	1.193016	0.21954	.	.	ENSG00000172732	ENST00000529374;ENST00000530111	.	.	.	4.78	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.20563	N	0.999888	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0039	7.2509	0.26148	0.1967:0.0:0.8033:0.0	.	.	.	.	X	147;118	.	.	E	+	1	0	MUS81	65387172	0.801000	0.28930	0.050000	0.19076	0.626000	0.37791	3.542000	0.53625	1.241000	0.43820	0.556000	0.70494	GAG		PASS	0.622	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		52	96	52	96	---	---	---	---
LRP5	4041	broad.mit.edu	37	11	68174200	68174200	+	Silent	SNP	G	G	T	rs143304197		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:68174200G>T	ENST00000294304.7	+	9	2116	c.2010G>T	c.(2008-2010)ccG>ccT	p.P670P		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	670	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P670P(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCCATCCCGCTCACGGGCG	0.582																																						uc001ont.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(2008-2010)CCG>CCT		low density lipoprotein receptor-related protein							57.0	50.0	53.0					11																	68174200		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68174200G>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2010G>T	11.37:g.68174200G>T						LRP5_uc009ysg.2_Silent_p.P80P	p.P670P	NM_002335	NP_002326	O75197	LRP5_HUMAN			9	2085	+			670			Beta-propeller 3.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.2010G>T	CCDS8181.1																																																																																				PASS	0.582	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		41	59	41	59	---	---	---	---
MRGPRF	116535	broad.mit.edu	37	11	68773465	68773465	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:68773465C>A	ENST00000309099.6	-	3	695	c.313G>T	c.(313-315)Ggg>Tgg	p.G105W	RP11-554A11.5_ENST00000562506.1_RNA|MRGPRF_ENST00000441623.1_Missense_Mutation_p.G105W	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	105						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G105W(1)		endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGGAAGCCCCCCGTGTTCAGG	0.632																																						uc001ooo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)GGG>TGG		MAS-related GPR, member F							33.0	28.0	30.0					11																	68773465		2178	4275	6453	SO:0001583	missense	116535					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68773465C>A	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.313G>T	11.37:g.68773465C>A	ENSP00000309782:p.Gly105Trp					MRGPRF_uc001oop.3_Missense_Mutation_p.G105W	p.G105W	NM_001098515	NP_001091985	Q96AM1	MRGRF_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	680	-			105			Extracellular (Potential).		B3KV43|Q8NBK8	Missense_Mutation	SNP	ENST00000309099.6	37	c.313G>T	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932035	0.52866	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.71817	-0.6;-0.6	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000341	T	0.79701	0.4491	L	0.55481	1.735	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70938	-0.4736	10	0.46703	T	0.11	-33.7633	13.1873	0.59688	0.0:1.0:0.0:0.0	.	105	Q96AM1	MRGRF_HUMAN	W	105;105;77	ENSP00000403660:G105W;ENSP00000309782:G105W	ENSP00000309782:G105W	G	-	1	0	MRGPRF	68530041	0.003000	0.15002	0.655000	0.29622	0.960000	0.62799	0.495000	0.22483	2.177000	0.69029	0.561000	0.74099	GGG		PASS	0.632	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015		5	6	5	6	---	---	---	---
OR2AT4	341152	broad.mit.edu	37	11	74800303	74800303	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:74800303A>T	ENST00000305159.3	-	1	496	c.456T>A	c.(454-456)agT>agA	p.S152R		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S152R(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						TTAGCCAGGCACTGGCTGCCA	0.552																																						uc010rro.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(454-456)AGT>AGA		olfactory receptor, family 2, subfamily AT,							102.0	97.0	99.0					11																	74800303		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800303A>T	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.456T>A	11.37:g.74800303A>T	ENSP00000304846:p.Ser152Arg						p.S152R	NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN			1	456	-			152			Helical; Name=4; (Potential).		B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.456T>A	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621686	0.28889	.	.	ENSG00000171561	ENST00000305159	T	0.37915	1.17	5.26	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	0.210434	0.23654	U	0.045895	T	0.27313	0.0670	L	0.55990	1.75	0.29728	N	0.838093	B	0.17667	0.023	B	0.19946	0.027	T	0.16188	-1.0411	10	0.45353	T	0.12	.	2.7778	0.05352	0.5077:0.0:0.2045:0.2878	.	152	A6NND4	O2AT4_HUMAN	R	152	ENSP00000304846:S152R	ENSP00000304846:S152R	S	-	3	2	OR2AT4	74477951	0.000000	0.05858	0.999000	0.59377	0.823000	0.46562	-0.688000	0.05150	0.399000	0.25367	-0.256000	0.11100	AGT		PASS	0.552	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		89	105	89	105	---	---	---	---
CAPN5	726	broad.mit.edu	37	11	76826625	76826625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:76826625G>A	ENST00000278559.3	+	6	1073	c.884G>A	c.(883-885)tGg>tAg	p.W295*	CAPN5_ENST00000529629.1_Nonsense_Mutation_p.W295*|CAPN5_ENST00000456580.2_Nonsense_Mutation_p.W335*|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	295	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.W295*(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AACGGGCCCTGGAGTGACACG	0.662																																						uc001oxx.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(883-885)TGG>TAG		calpain 5							26.0	27.0	27.0					11																	76826625		2200	4290	6490	SO:0001587	stop_gained	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76826625G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.884G>A	11.37:g.76826625G>A	ENSP00000278559:p.Trp295*					CAPN5_uc009yup.2_Nonsense_Mutation_p.W335*|CAPN5_uc009yuq.2_Nonsense_Mutation_p.W331*|CAPN5_uc001oxy.2_Nonsense_Mutation_p.W335*	p.W295*	NM_004055	NP_004046	O15484	CAN5_HUMAN			6	1069	+			295			Calpain catalytic.		O00263	Nonsense_Mutation	SNP	ENST00000278559.3	37	c.884G>A	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	g	39	7.827842	0.98513	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8403	0.88713	0.0:0.0:1.0:0.0	.	.	.	.	X	295;335;295;335;335	.	ENSP00000278559:W295X	W	+	2	0	CAPN5	76504273	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.805000	0.99149	2.445000	0.82738	0.556000	0.70494	TGG		PASS	0.662	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		29	31	29	31	---	---	---	---
KCTD14	65987	broad.mit.edu	37	11	77727702	77727702	+	Silent	SNP	C	C	T	rs151197596	byFrequency	TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:77727702C>T	ENST00000353172.5	-	2	749	c.705G>A	c.(703-705)acG>acA	p.T235T	RP11-7I15.3_ENST00000533697.1_RNA|KCTD14_ENST00000533144.1_Silent_p.T205T	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	235					protein homooligomerization (GO:0051260)			p.T235T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TGGTGGGGTACGTCAGGTAGA	0.498																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	uc001oyw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(703-705)ACG>ACA		potassium channel tetramerisation domain		C	,,,	3,4397	6.2+/-15.9	0,3,2197	150.0	133.0	139.0		,,,705	-3.7	0.0	11	dbSNP_134	139	0,8584		0,0,4292	no	utr-3,utr-3,utr-3,coding-synonymous	KCTD14,NDUFC2-KCTD14	NM_001203260.1,NM_001203261.1,NM_001203262.1,NM_023930.3	,,,	0,3,6489	TT,TC,CC		0.0,0.0682,0.0231	,,,	,,,235/256	77727702	3,12981	2200	4292	6492	SO:0001819	synonymous_variant	65987					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77727702C>T	BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.705G>A	11.37:g.77727702C>T							p.T235T	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		2	730	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		235					B2R9R8	Silent	SNP	ENST00000353172.5	37	c.705G>A	CCDS8255.2																																																																																				PASS	0.498	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		98	117	98	117	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82880718	82880718	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:82880718C>A	ENST00000298281.4	+	8	3793	c.3341C>A	c.(3340-3342)aCa>aAa	p.T1114K		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1114					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.T1213K(1)|p.T1114K(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CTTCAAGGCACAAGATTTGAC	0.428																																						uc001ozx.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3340-3342)ACA>AAA		pre-mRNA cleavage complex II protein Pcf11							128.0	122.0	124.0					11																	82880718		1959	4150	6109	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82880718C>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3341C>A	11.37:g.82880718C>A	ENSP00000298281:p.Thr1114Lys					PCF11_uc010rsu.1_Missense_Mutation_p.T1245K	p.T1114K	NM_015885	NP_056969	O94913	PCF11_HUMAN			8	3686	+			1114					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.3341C>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997424	0.35226	.	.	ENSG00000165494	ENST00000298281	T	0.22336	1.96	6.06	5.1	0.69264	.	0.491722	0.19315	N	0.117298	T	0.12646	0.0307	N	0.14661	0.345	0.26170	N	0.979871	B	0.11235	0.004	B	0.12156	0.007	T	0.14811	-1.0459	9	.	.	.	-0.1638	12.5636	0.56297	0.1305:0.7435:0.126:0.0	.	1114	O94913	PCF11_HUMAN	K	1114	ENSP00000298281:T1114K	.	T	+	2	0	PCF11	82558366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.232000	0.43018	2.882000	0.98803	0.655000	0.94253	ACA		PASS	0.428	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		4	245	4	245	---	---	---	---
CCDC83	220047	broad.mit.edu	37	11	85627088	85627088	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:85627088C>G	ENST00000342404.3	+	10	1108	c.892C>G	c.(892-894)Caa>Gaa	p.Q298E	RP11-90K17.2_ENST00000531414.1_RNA|CCDC83_ENST00000376067.1_Missense_Mutation_p.Q198E|CCDC83_ENST00000280245.4_Missense_Mutation_p.Q329E			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	298								p.Q329E(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GTCAGAATTGCAACCCACAGA	0.318																																						uc001pbh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(892-894)CAA>GAA		coiled-coil domain containing 83							100.0	101.0	101.0					11																	85627088		2203	4299	6502	SO:0001583	missense	220047							g.chr11:85627088C>G	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.892C>G	11.37:g.85627088C>G	ENSP00000344512:p.Gln298Glu					CCDC83_uc001pbg.1_Missense_Mutation_p.Q329E|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.Q198E	p.Q298E	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN			10	1404	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	298					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37	c.892C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.020|0.020	-1.444134|-1.444134	0.01089|0.01089	.|.	.|.	ENSG00000150676|ENSG00000150676	ENST00000526729|ENST00000280245;ENST00000376067;ENST00000342404	.|T;T;T	.|0.40225	.|1.04;1.04;1.04	5.17|5.17	3.15|3.15	0.36227|0.36227	.|.	.|0.444204	.|0.20615	.|N	.|0.088885	T|T	0.28499|0.28499	0.0705|0.0705	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12013	.|0.001;0.002;0.005	.|B;B;B	.|0.08055	.|0.001;0.002;0.003	T|T	0.11591|0.11591	-1.0581|-1.0581	5|9	.|.	.|.	.|.	-3.7783|-3.7783	7.414|7.414	0.27034|0.27034	0.1811:0.6189:0.2:0.0|0.1811:0.6189:0.2:0.0	.|.	.|198;298;329	.|Q8IWF9-3;Q8IWF9;Q8IWF9-2	.|.;CCD83_HUMAN;.	W|E	202|329;198;298	.|ENSP00000280245:Q329E;ENSP00000365235:Q198E;ENSP00000344512:Q298E	.|.	C|Q	+|+	3|1	2|0	CCDC83|CCDC83	85304736|85304736	0.003000|0.003000	0.15002|0.15002	0.004000|0.004000	0.12327|0.12327	0.012000|0.012000	0.07955|0.07955	1.128000|1.128000	0.31369|0.31369	1.330000|1.330000	0.45394|0.45394	0.591000|0.591000	0.81541|0.81541	TGC|CAA		PASS	0.318	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		73	157	73	157	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89424614	89424614	+	RNA	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:89424614G>T	ENST00000532352.1	+	0	1777							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTCTATTTCAGATTCACTTTT	0.323																																						uc001pda.2																			1	Unknown(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.e12-1		folate hydrolase 1B							55.0	58.0	57.0					11																	89424614		2197	4293	6490			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89424614G>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89424614G>T							p.D322_splice	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			12	1491	+									Splice_Site	SNP	ENST00000532352.1	37	c.965_splice																																																																																					PASS	0.323	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		37	67	37	67	---	---	---	---
TRIM49	57093	broad.mit.edu	37	11	89531664	89531664	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:89531664C>A	ENST00000329758.1	-	8	1321	c.993G>T	c.(991-993)tgG>tgT	p.W331C	TRIM49_ENST00000532501.2_Missense_Mutation_p.W254C	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	331	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.W331C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCTGAACACCCCATGCAAGAA	0.418																																						uc001pdb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(991-993)TGG>TGT		ring finger protein 18							14.0	18.0	17.0					11																	89531664		2020	4188	6208	SO:0001583	missense	57093					intracellular	zinc ion binding	g.chr11:89531664C>A	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.993G>T	11.37:g.89531664C>A	ENSP00000327604:p.Trp331Cys						p.W331C	NM_020358	NP_065091	P0CI25	TRI49_HUMAN			8	1322	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	331			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000329758.1	37	c.993G>T	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	C	1.460	-0.562626	0.03939	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.08896	3.04	1.04	-0.114	0.13564	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.25306	0.0615	M	0.86097	2.795	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.07347	-1.0777	8	.	.	.	.	4.0281	0.09697	0.4076:0.5924:0.0:0.0	.	331	P0CI25	TRI49_HUMAN	C	331;254	ENSP00000327604:W331C	.	W	-	3	0	TRIM49	89171312	0.740000	0.28207	0.001000	0.08648	0.013000	0.08279	1.094000	0.30951	-0.020000	0.14032	0.194000	0.17425	TGG		PASS	0.418	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		42	90	42	90	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108384166	108384166	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:108384166G>C	ENST00000265843.4	-	6	2178	c.2068C>G	c.(2068-2070)Ccc>Gcc	p.P690A	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Missense_Mutation_p.P683A|EXPH5_ENST00000443411.1_Missense_Mutation_p.P502A|EXPH5_ENST00000428840.1_Missense_Mutation_p.P614A	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	690					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.P690A(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGATATTGGGCTGGCTTTTG	0.418																																						uc001pkk.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2068-2070)CCC>GCC		exophilin 5 isoform a							110.0	109.0	109.0					11																	108384166		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384166G>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2068C>G	11.37:g.108384166G>C	ENSP00000265843:p.Pro690Ala					EXPH5_uc010rvy.1_Missense_Mutation_p.P502A|EXPH5_uc010rvz.1_Missense_Mutation_p.P534A|EXPH5_uc010rwa.1_Missense_Mutation_p.P614A	p.P690A	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	2179	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	690					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.2068C>G	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	G	4.450	0.083300	0.08533	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.05717	3.98;3.91;3.76;3.98;3.81;3.4	6.04	1.9	0.25705	.	0.750751	0.12609	N	0.454008	T	0.06005	0.0156	L	0.38531	1.155	0.09310	N	1	B	0.12630	0.006	B	0.16289	0.015	T	0.38156	-0.9674	10	0.30078	T	0.28	0.0348	9.6537	0.39912	0.0776:0.437:0.4855:0.0	.	690	Q8NEV8	EXPH5_HUMAN	A	690;614;502;683;534;614;502	ENSP00000265843:P690A;ENSP00000391966:P614A;ENSP00000411390:P502A;ENSP00000432546:P683A;ENSP00000432683:P614A;ENSP00000446434:P502A	ENSP00000265843:P690A	P	-	1	0	EXPH5	107889376	0.005000	0.15991	0.007000	0.13788	0.112000	0.19704	0.780000	0.26760	0.387000	0.25024	0.563000	0.77884	CCC		PASS	0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		146	207	146	207	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113102370	113102370	+	Silent	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:113102370C>T	ENST00000533760.1	+	9	1308	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	NCAM1_ENST00000316851.7_Silent_p.L355L|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.L364L	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	365	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.L364L(2)|p.L355L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCGGCAGACTCTGGATGGGCA	0.627																																						uc009yyq.1																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(817-819)CTG>TTG		neural cell adhesion molecule 1 isoform 3							33.0	37.0	36.0					11																	113102370		2119	4220	6339	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102370C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.709C>T	11.37:g.113102370C>T							p.L273L	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	11	1511	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	365			Ig-like C2-type 4.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37	c.817C>T																																																																																					PASS	0.627	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		16	55	16	55	---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	114113012	114113012	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:114113012C>A	ENST00000335953.4	+	5	1957	c.1577C>A	c.(1576-1578)aCc>aAc	p.T526N	ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.T526N	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	526					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T526N(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGCAACCGCACCTTCCCCAGC	0.627																																						uc001pop.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1576-1578)ACC>AAC		promyelocytic leukemia zinc finger protein							53.0	43.0	46.0					11																	114113012		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114113012C>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1577C>A	11.37:g.114113012C>A	ENSP00000338157:p.Thr526Asn					ZBTB16_uc001poq.2_Missense_Mutation_p.T526N	p.T526N	NM_006006	NP_005997	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	5	1841	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	526			C2H2-type 5.		Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1577C>A	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064547	0.93898	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.16196	2.36;2.36	5.55	5.55	0.83447	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.058869	0.64402	D	0.000003	T	0.41719	0.1171	L	0.58101	1.795	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.07139	-1.0788	10	0.56958	D	0.05	-15.6145	19.861	0.96785	0.0:1.0:0.0:0.0	.	526	Q05516	ZBT16_HUMAN	N	526;526;403	ENSP00000338157:T526N;ENSP00000376721:T526N	ENSP00000309507:T403N	T	+	2	0	ZBTB16	113618222	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.715000	0.84713	2.767000	0.95098	0.655000	0.94253	ACC		PASS	0.627	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		12	23	12	23	---	---	---	---
ADAMTS15	170689	broad.mit.edu	37	11	130341141	130341141	+	Silent	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:130341141C>T	ENST00000299164.2	+	7	1941	c.1941C>T	c.(1939-1941)tcC>tcT	p.S647S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	647	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S647S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ACTCCACCTCCGTCTGTGTCC	0.587																																						uc010scd.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(1939-1941)TCC>TCT		a disintegrin-like and metalloprotease							109.0	101.0	104.0					11																	130341141		2201	4297	6498	SO:0001819	synonymous_variant	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130341141C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1941C>T	11.37:g.130341141C>T							p.S647S	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	7	1941	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	647			Cys-rich.		Q32MI6	Silent	SNP	ENST00000299164.2	37	c.1941C>T	CCDS8488.1																																																																																				PASS	0.587	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		51	79	51	79	---	---	---	---
OPCML	4978	broad.mit.edu	37	11	132398959	132398959	+	Silent	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:132398959G>T	ENST00000331898.7	-	3	1100	c.522C>A	c.(520-522)gtC>gtA	p.V174V	OPCML_ENST00000374778.4_Silent_p.V133V|OPCML_ENST00000524381.1_Silent_p.V167V|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.V174V	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	174	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.V174V(1)|p.V167V(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CCTTACCCTTGACTGACAGGT	0.473																																						uc001qgs.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(520-522)GTC>GTA		opioid binding protein/cell adhesion							131.0	97.0	109.0					11																	132398959		2201	4297	6498	SO:0001819	synonymous_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132398959G>T	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.522C>A	11.37:g.132398959G>T						OPCML_uc001qgu.2_Silent_p.V167V|OPCML_uc010sck.1_Silent_p.V174V|OPCML_uc001qgt.2_Silent_p.V174V|OPCML_uc010scl.1_Silent_p.V133V	p.V174V	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	3	572	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	174			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	c.522C>A	CCDS8492.1																																																																																				PASS	0.473	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		64	116	64	116	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2692027	2692027	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:2692027G>T	ENST00000347598.4	+	15	2143	c.2143G>T	c.(2143-2145)Ggg>Tgg	p.G715W	CACNA1C_ENST00000344100.3_Missense_Mutation_p.G715W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G715W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000399655.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G740W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G715W|CACNA1C_ENST00000480911.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G715W|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G715W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G715W	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	715					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G715W(3)|p.G745W(1)|p.G250W(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GATGTATGATGGGATCATGGC	0.488																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(2143-2145)GGG>TGG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						124.0	141.0	136.0					12																	2692027		2092	4248	6340	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2692027G>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2143G>T	12.37:g.2692027G>T	ENSP00000266376:p.Gly715Trp					CACNA1C_uc009zdv.1_Missense_Mutation_p.G712W|CACNA1C_uc001qkb.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkc.2_Missense_Mutation_p.G715W|CACNA1C_uc001qke.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkf.2_Missense_Mutation_p.G715W|CACNA1C_uc001qjz.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkd.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkg.2_Missense_Mutation_p.G715W|CACNA1C_uc009zdw.1_Missense_Mutation_p.G715W|CACNA1C_uc001qkh.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkl.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkn.2_Missense_Mutation_p.G715W|CACNA1C_uc001qko.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkp.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkr.2_Missense_Mutation_p.G715W|CACNA1C_uc001qku.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkq.2_Missense_Mutation_p.G715W|CACNA1C_uc001qks.2_Missense_Mutation_p.G715W|CACNA1C_uc001qkt.2_Missense_Mutation_p.G715W|CACNA1C_uc001qka.1_Missense_Mutation_p.G250W|CACNA1C_uc001qki.1_Missense_Mutation_p.G451W|CACNA1C_uc001qkj.1_Missense_Mutation_p.G451W|CACNA1C_uc001qkk.1_Missense_Mutation_p.G451W|CACNA1C_uc001qkm.1_Missense_Mutation_p.G451W|CACNA1C_uc001qkw.2_Missense_Mutation_p.G4W	p.G715W	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	15	2456	+			715			II.|Extracellular (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.2143G>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599932	0.87055	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47	4.85	4.85	0.62838	Ion transport (1);	0.103780	0.64402	D	0.000003	D	0.99130	0.9700	H	0.98089	4.145	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;0.999;1.0;1.0;1.0;0.999;1.0	D	0.98988	1.0807	10	0.87932	D	0	.	18.1508	0.89674	0.0:0.0:1.0:0.0	.	715;712;715;715;715;715;715;715;715;715;715;715;686;715;715;715;715;715;715;715;715;715;715;715;715;715	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	W	740;715;715;715;715;715;715;715;715;715;715;715;715;715;715;715;715;715;715;715;715;715;715;556	ENSP00000336982:G740W;ENSP00000382563:G715W;ENSP00000437936:G715W;ENSP00000382552:G715W;ENSP00000382547:G715W;ENSP00000382506:G715W;ENSP00000382530:G715W;ENSP00000382546:G715W;ENSP00000382500:G715W;ENSP00000382549:G715W;ENSP00000266376:G715W;ENSP00000382515:G715W;ENSP00000382510:G715W;ENSP00000341092:G715W;ENSP00000382537:G715W;ENSP00000329877:G715W;ENSP00000382557:G715W;ENSP00000385724:G715W;ENSP00000382512:G715W;ENSP00000382542:G715W;ENSP00000382526:G715W;ENSP00000385896:G715W;ENSP00000382504:G715W	ENSP00000323129:G556W	G	+	1	0	CACNA1C	2562288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.648000	0.98483	2.535000	0.85469	0.561000	0.74099	GGG		PASS	0.488	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		33	20	33	20	---	---	---	---
ZNF384	171017	broad.mit.edu	37	12	6778300	6778300	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:6778300C>T	ENST00000396801.3	-	10	1436	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000396795.1_Missense_Mutation_p.R349Q|ZNF384_ENST00000355772.4_Missense_Mutation_p.R294Q|ZNF384_ENST00000361959.3_Missense_Mutation_p.R410Q|ZNF384_ENST00000319770.3_Missense_Mutation_p.R333Q|ZNF384_ENST00000396799.2_Missense_Mutation_p.R349Q|RP4-761J14.8_ENST00000589924.1_RNA	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	410					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.R410Q(1)|p.R349Q(1)	EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CGTGTACGCCCGATGACAGTT	0.493			T	"""EWSR1, TAF15 """	ALL																																	uc010sfh.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	EWSR1|TAF15 		ALL	EWSR1/ZNF384(4)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						c.(1228-1230)CGG>CAG		nuclear matrix transcription factor 4 isoform d							192.0	144.0	160.0					12																	6778300		2203	4300	6503	SO:0001583	missense	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6778300C>T	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1229G>A	12.37:g.6778300C>T	ENSP00000380019:p.Arg410Gln					ZNF384_uc001qpz.2_Missense_Mutation_p.R349Q|ZNF384_uc001qqa.2_Missense_Mutation_p.R349Q|ZNF384_uc001qqb.2_Missense_Mutation_p.R333Q|ZNF384_uc001qqc.2_Missense_Mutation_p.R349Q|ZNF384_uc001qqd.2_Missense_Mutation_p.R294Q|ZNF384_uc001qqe.2_Missense_Mutation_p.R333Q	p.R410Q	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN			10	1437	-			410			C2H2-type 7.		O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.1229G>A	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917139	0.92249	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;2.18;0.57	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.064072	0.64402	D	0.000007	T	0.66107	0.2756	L	0.38692	1.165	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.999;0.981;0.981	D;D;P;P	0.85130	0.997;0.99;0.458;0.458	T	0.67937	-0.5541	10	0.87932	D	0	-21.8992	19.2495	0.93917	0.0:1.0:0.0:0.0	.	410;294;333;349	Q8TF68;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	Q	333;349;410;410;294;349	ENSP00000321650:R333Q;ENSP00000380013:R349Q;ENSP00000380019:R410Q;ENSP00000354592:R410Q;ENSP00000348018:R294Q;ENSP00000380017:R349Q	ENSP00000321650:R333Q	R	-	2	0	ZNF384	6648561	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	3.572000	0.53849	2.785000	0.95823	0.591000	0.81541	CGG		PASS	0.493	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			67	49	67	49	---	---	---	---
SLC2A3	6515	broad.mit.edu	37	12	8075586	8075586	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:8075586C>A	ENST00000075120.7	-	9	1343	c.1103G>T	c.(1102-1104)gGg>gTg	p.G368V		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	368					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.G368V(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CAAGATAGCCCCAATACAGAC	0.468																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1102-1104)GGG>GTG		solute carrier family 2 (facilitated glucose							40.0	40.0	40.0					12																	8075586		2203	4300	6503	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8075586C>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1103G>T	12.37:g.8075586C>A	ENSP00000075120:p.Gly368Val						p.G368V	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	9	1365	-			368			Extracellular (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.1103G>T	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.407500	0.00193	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.69806	-0.43	4.34	-2.75	0.05914	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.662345	0.14781	N	0.298779	T	0.26195	0.0639	N	0.01122	-1.005	0.40521	D	0.980831	B	0.02656	0.0	B	0.04013	0.001	T	0.41980	-0.9478	10	0.02654	T	1	.	8.696	0.34296	0.4206:0.1797:0.3996:0.0	.	368	P11169	GTR3_HUMAN	V	368;294	ENSP00000075120:G368V	ENSP00000075120:G368V	G	-	2	0	SLC2A3	7966853	0.049000	0.20398	0.032000	0.17829	0.108000	0.19459	0.273000	0.18662	-0.718000	0.04949	0.655000	0.94253	GGG		PASS	0.468	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		24	22	24	22	---	---	---	---
ZNF705A	440077	broad.mit.edu	37	12	8330040	8330040	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:8330040G>A	ENST00000359286.4	+	5	853	c.764G>A	c.(763-765)tGt>tAt	p.C255Y	FAM66C_ENST00000456135.2_RNA|FAM66C_ENST00000544214.1_RNA|FAM66C_ENST00000454799.2_RNA|FAM66C_ENST00000541558.1_RNA	NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	255					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.C255Y(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		GGAAAAAAGTGTTATGAATGT	0.393																																						uc001qud.1																			1	Substitution - Missense(1)		lung(1)		0						c.(763-765)TGT>TAT		zinc finger protein 705A							36.0	41.0	39.0					12																	8330040		2191	4289	6480	SO:0001583	missense	440077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:8330040G>A	AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"""Zinc fingers, C2H2-type"", ""-"""	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.764G>A	12.37:g.8330040G>A	ENSP00000352233:p.Cys255Tyr					FAM66C_uc001que.3_5'Flank|FAM66C_uc001quf.3_5'Flank|FAM66C_uc009zgc.2_5'Flank|FAM66C_uc001qug.3_5'Flank	p.C255Y	NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN		Kidney(36;0.0877)	5	836	+			255						Missense_Mutation	SNP	ENST00000359286.4	37	c.764G>A	CCDS31737.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.418959	0.25552	.	.	ENSG00000196946	ENST00000359286	T	0.17528	2.27	1.17	0.186	0.15105	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09291	0.0229	N	0.20685	0.6	0.26897	N	0.967189	B	0.02656	0.0	B	0.01281	0.0	T	0.38607	-0.9653	8	.	.	.	.	6.8836	0.24187	0.0:0.6967:0.3033:0.0	.	255	Q6ZN79	Z705A_HUMAN	Y	255	ENSP00000352233:C255Y	.	C	+	2	0	ZNF705A	8221307	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	0.649000	0.24843	0.052000	0.16007	-0.723000	0.03601	TGT		PASS	0.393	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400449.1	NM_001004328		148	116	148	116	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15702147	15702147	+	Silent	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:15702147C>A	ENST00000281171.4	+	14	2754	c.2424C>A	c.(2422-2424)gcC>gcA	p.A808A	PTPRO_ENST00000445537.2_5'UTR|PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000348962.2_Silent_p.A808A|PTPRO_ENST00000442921.2_5'UTR	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	808	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.A808A(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CGTTCATAGCCGTCTCAACAA	0.388																																						uc001rcv.1																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(2422-2424)GCC>GCA		receptor-type protein tyrosine phosphatase O							163.0	143.0	150.0					12																	15702147		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15702147C>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2424C>A	12.37:g.15702147C>A						PTPRO_uc001rcw.1_Silent_p.A808A|PTPRO_uc001rcx.1_5'UTR|PTPRO_uc001rcy.1_5'UTR|PTPRO_uc001rcz.1_5'UTR|PTPRO_uc001rda.1_5'UTR	p.A808A	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			14	2598	+		Hepatocellular(102;0.244)	808			Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.2424C>A	CCDS8675.1																																																																																				PASS	0.388	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			146	97	146	97	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21229394	21229394	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:21229394C>G	ENST00000421593.2	+	12	1615	c.1615C>G	c.(1615-1617)Cta>Gta	p.L539V	RP11-125O5.2_ENST00000590779.1_Missense_Mutation_p.F39L|LST3_ENST00000381541.3_Missense_Mutation_p.L586V|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.L647V|LST3_ENST00000540229.1_Missense_Mutation_p.L647V|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.L586V	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	539						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L539V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGGAGGTATTCTAGTTCCAAT	0.368																																						uc010sil.1																			1	Substitution - Missense(1)	p.M647L(1)	lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1939-1941)CTA>GTA		SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;							161.0	167.0	165.0					12																	21229394		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21229394C>G	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1615C>G	12.37:g.21229394C>G	ENSP00000394168:p.Leu539Val					LST-3TM12_uc010sim.1_Missense_Mutation_p.L586V|LST-3TM12_uc010sin.1_Missense_Mutation_p.L539V	p.L647V			Q9NPD5	SO1B3_HUMAN			15	2004	+	Esophageal squamous(101;0.149)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q71QF0	Missense_Mutation	SNP	ENST00000421593.2	37	c.1939C>G	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	10.90	1.480068	0.26598	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593;ENST00000545916	D;T;D;T;T;T	0.81908	-1.55;1.04;-1.55;1.04;1.04;1.04	2.4	1.47	0.22746	.	0.178066	0.48767	D	0.000167	D	0.84056	0.5388	M	0.75447	2.3	0.23681	N	0.99713	P;P;P	0.49447	0.833;0.833;0.924	P;P;P	0.52758	0.708;0.708;0.632	T	0.73353	-0.4009	10	0.44086	T	0.13	.	6.5212	0.22277	0.0:0.834:0.0:0.166	.	539;586;647	G3V0H7;F5H094;Q5JAR4	.;.;.	V	647;586;647;586;539;48	ENSP00000451758:L647V;ENSP00000370952:L586V;ENSP00000441269:L647V;ENSP00000452013:L586V;ENSP00000394168:L539V;ENSP00000439857:L48V	ENSP00000370952:L586V	L	+	1	2	SLCO1B3;SLCO1B7;RP11-545J16.1	21120661	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	2.727000	0.47311	1.322000	0.45245	0.205000	0.17691	CTA		PASS	0.368	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		165	98	165	98	---	---	---	---
C12orf40	283461	broad.mit.edu	37	12	40037721	40037721	+	Splice_Site	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:40037721T>A	ENST00000324616.5	+	3	356		c.e3+2		C12orf40_ENST00000398716.1_Splice_Site|C12orf40_ENST00000405531.3_Splice_Site	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40									p.?(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAATTCCTGGTAAGTCATTCC	0.323																																						uc001rmc.2																			1	Unknown(1)		lung(1)	ovary(6)	6						c.e3+2		hypothetical protein LOC283461							69.0	73.0	72.0					12																	40037721		1817	4061	5878	SO:0001630	splice_region_variant	283461							g.chr12:40037721T>A	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.202+2T>A	12.37:g.40037721T>A						C12orf40_uc009zjv.1_Intron	p.E68_splice	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			3	369	+								B7WNU1|Q8IXY6|Q8N818|V9HW02	Splice_Site	SNP	ENST00000324616.5	37	c.202_splice	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.765151	0.31228	.	.	ENSG00000180116	ENST00000405531;ENST00000324616	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1538	0.65405	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C12orf40	38323988	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	4.832000	0.62759	2.285000	0.76669	0.477000	0.44152	.		PASS	0.323	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599	Intron	30	39	30	39	---	---	---	---
LARP4	113251	broad.mit.edu	37	12	50860745	50860745	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:50860745C>G	ENST00000398473.2	+	13	1499	c.1387C>G	c.(1387-1389)Cct>Gct	p.P463A	LARP4_ENST00000347328.5_Missense_Mutation_p.P392A|LARP4_ENST00000293618.8_Missense_Mutation_p.P392A|LARP4_ENST00000429001.3_Missense_Mutation_p.P469A|LARP4_ENST00000518444.1_Missense_Mutation_p.P462A	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	463					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.P463A(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATTTTAGAGACCTCATCCTTC	0.393																																						uc001rwp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1387-1389)CCT>GCT		c-Mpl binding protein isoform a							114.0	104.0	107.0					12																	50860745		1860	4103	5963	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50860745C>G	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1387C>G	12.37:g.50860745C>G	ENSP00000381490:p.Pro463Ala					LARP4_uc001rwo.1_Missense_Mutation_p.P469A|LARP4_uc001rwq.1_Missense_Mutation_p.P392A|LARP4_uc001rwr.1_Missense_Mutation_p.P392A|LARP4_uc001rws.1_Missense_Mutation_p.P462A|LARP4_uc009zlr.1_Missense_Mutation_p.P282A|LARP4_uc001rwt.1_Missense_Mutation_p.P54A	p.P463A	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN			13	1531	+			463					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.1387C>G	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307789	0.23821	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.99	-0.0567	0.13804	.	0.106321	0.64402	D	0.000004	T	0.20981	0.0505	L	0.52759	1.655	0.22656	N	0.998889	P;P;B;B;B;B	0.41393	0.465;0.748;0.4;0.044;0.335;0.415	B;B;B;B;B;B	0.41691	0.294;0.364;0.173;0.04;0.258;0.361	T	0.11767	-1.0574	10	0.19590	T	0.45	.	2.491	0.04610	0.1176:0.5081:0.1142:0.2601	.	364;462;392;392;463;469	Q71RC2-2;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;LARP4_HUMAN;.	A	392;469;463;462;364;392	ENSP00000293618:P392A;ENSP00000415464:P469A;ENSP00000381490:P463A;ENSP00000429077:P462A;ENSP00000340901:P392A	ENSP00000293618:P392A	P	+	1	0	LARP4	49147012	1.000000	0.71417	0.987000	0.45799	0.116000	0.19942	2.447000	0.44917	-0.114000	0.11936	-1.569000	0.00873	CCT		PASS	0.393	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		95	85	95	85	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54912486	54912486	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:54912486A>T	ENST00000293373.6	+	14	1469	c.1390A>T	c.(1390-1392)Agt>Tgt	p.S464C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S414C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	464					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.S464C(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTCATTCGTCAGTATCCTCTC	0.473																																						uc001sgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1390-1392)AGT>TGT		NCK-associated protein 1-like							212.0	180.0	191.0					12																	54912486		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54912486A>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1390A>T	12.37:g.54912486A>T	ENSP00000293373:p.Ser464Cys					NCKAP1L_uc010sox.1_Missense_Mutation_p.S6C|NCKAP1L_uc010soy.1_Missense_Mutation_p.S414C	p.S464C	NM_005337	NP_005328	P55160	NCKPL_HUMAN			14	1469	+			464					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1390A>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038410	0.75617	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.32753	1.44;1.44	5.77	5.77	0.91146	.	0.095984	0.64402	D	0.000001	T	0.52645	0.1747	M	0.64997	1.995	0.42701	D	0.993611	D	0.89917	1.0	D	0.79108	0.992	T	0.55679	-0.8103	10	0.72032	D	0.01	-7.8641	14.0545	0.64759	1.0:0.0:0.0:0.0	.	464	P55160	NCKPL_HUMAN	C	464;414	ENSP00000293373:S464C;ENSP00000445596:S414C	ENSP00000293373:S464C	S	+	1	0	NCKAP1L	53198753	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.314000	0.59166	2.200000	0.70718	0.459000	0.35465	AGT		PASS	0.473	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		95	76	95	76	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759647	55759647	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:55759647T>A	ENST00000343399.3	+	1	753	c.753T>A	c.(751-753)agT>agA	p.S251R		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S251R(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TCTCTTACAGTAGCTGTATCT	0.418																																						uc010spk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(751-753)AGT>AGA		olfactory receptor, family 6, subfamily C,							100.0	90.0	93.0					12																	55759647		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759647T>A		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.753T>A	12.37:g.55759647T>A	ENSP00000368987:p.Ser251Arg						p.S251R	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			1	753	+			251			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000343399.3	37	c.753T>A	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	t	12.03	1.817084	0.32145	.	.	ENSG00000187857	ENST00000343399	T	0.37584	1.19	5.22	-10.4	0.00318	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000274	T	0.20901	0.0503	L	0.48218	1.51	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.07009	-1.0795	10	0.72032	D	0.01	.	6.7607	0.23538	0.1486:0.3293:0.4438:0.0783	.	251	A6NL08	O6C75_HUMAN	R	251	ENSP00000368987:S251R	ENSP00000368987:S251R	S	+	3	2	OR6C75	54045914	0.000000	0.05858	0.012000	0.15200	0.944000	0.59088	-9.690000	0.00010	-3.078000	0.00251	0.515000	0.50301	AGT		PASS	0.418	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			89	70	89	70	---	---	---	---
PIP4K2C	79837	broad.mit.edu	37	12	57989764	57989764	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:57989764T>C	ENST00000354947.5	+	4	479	c.463T>C	c.(463-465)Tcc>Ccc	p.S155P	PIP4K2C_ENST00000422156.3_Intron|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.S155P|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.S137P			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	155	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)	p.S155P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CAAAGAAGTATCCAGTGAGGA	0.527																																						uc001sou.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|lung(1)	3						c.(463-465)TCC>CCC		phosphatidylinositol-5-phosphate 4-kinase, type							198.0	171.0	180.0					12																	57989764		2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57989764T>C	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.463T>C	12.37:g.57989764T>C	ENSP00000347032:p.Ser155Pro					PIP4K2C_uc001sot.2_Missense_Mutation_p.S155P|PIP4K2C_uc010srs.1_Missense_Mutation_p.S137P|PIP4K2C_uc010srt.1_Intron	p.S155P	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			4	594	+	Melanoma(17;0.122)		155			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.463T>C	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.899274	0.72754	.	.	ENSG00000166908	ENST00000540759;ENST00000436866;ENST00000551772;ENST00000550465;ENST00000354947	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.13	5.13	0.70059	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.058712	0.64402	D	0.000001	T	0.52933	0.1765	L	0.53561	1.675	0.54753	D	0.999988	P;P	0.52842	0.62;0.956	B;D	0.65573	0.196;0.936	T	0.50608	-0.8808	10	0.42905	T	0.14	-16.2834	14.2282	0.65873	0.0:0.0:0.0:1.0	.	137;155	B4DY44;Q8TBX8	.;PI42C_HUMAN	P	155;155;134;137;155	ENSP00000439878:S155P;ENSP00000450197:S134P;ENSP00000447390:S137P;ENSP00000347032:S155P	ENSP00000347032:S155P	S	+	1	0	PIP4K2C	56276031	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.547000	0.60712	2.074000	0.62210	0.374000	0.22700	TCC		PASS	0.527	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		125	65	125	65	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	73046262	73046262	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:73046262T>A	ENST00000261180.4	+	16	2797	c.2701T>A	c.(2701-2703)Tta>Ata	p.L901I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	901					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L901I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAGGAATTTATTAAACAGGTA	0.333																																						uc001sxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2701-2703)TTA>ATA		thyrotropin-releasing hormone degrading enzyme							65.0	66.0	66.0					12																	73046262		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73046262T>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2701T>A	12.37:g.73046262T>A	ENSP00000261180:p.Leu901Ile						p.L901I	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			16	2731	+			901			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2701T>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328761	0.60743	.	.	ENSG00000072657	ENST00000261180	T	0.04970	3.52	5.32	4.14	0.48551	.	0.090257	0.47852	D	0.000217	T	0.17492	0.0420	M	0.65320	2	0.51012	D	0.999906	D	0.67145	0.996	D	0.66602	0.945	T	0.00300	-1.1835	10	0.87932	D	0	.	7.7678	0.28991	0.0:0.2458:0.0:0.7542	.	901	Q9UKU6	TRHDE_HUMAN	I	901	ENSP00000261180:L901I	ENSP00000261180:L901I	L	+	1	2	TRHDE	71332529	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	3.034000	0.49751	0.816000	0.34421	0.459000	0.35465	TTA		PASS	0.333	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		11	96	11	96	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99640279	99640279	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:99640279C>A	ENST00000547776.2	-	13	2119	c.2120G>T	c.(2119-2121)gGg>gTg	p.G707V	ANKS1B_ENST00000547010.1_Missense_Mutation_p.G287V|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G707V|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	707						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.G707V(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CACAAATCCCCCTGCGTTCAT	0.448																																						uc001tge.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2119-2121)GGG>GTG		cajalin 2 isoform a							127.0	123.0	124.0					12																	99640279		1909	4124	6033	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640279C>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2120G>T	12.37:g.99640279C>A	ENSP00000449629:p.Gly707Val					ANKS1B_uc001tgf.1_Missense_Mutation_p.G287V|ANKS1B_uc001tgk.2_Missense_Mutation_p.G4V|ANKS1B_uc009ztt.1_Missense_Mutation_p.G673V	p.G707V	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	2537	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	707					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.2120G>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584238	0.28268	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	T;T;T	0.61510	0.9;0.1;0.89	5.34	5.34	0.76211	.	0.314363	0.29924	N	0.010843	T	0.48409	0.1498	L	0.46157	1.445	0.80722	D	1	P;P	0.40875	0.458;0.731	B;B	0.35470	0.194;0.203	T	0.47611	-0.9104	9	.	.	.	-2.1755	14.1113	0.65123	0.0:0.8501:0.1499:0.0	.	287;707	Q7Z6G8-6;Q7Z6G8	.;ANS1B_HUMAN	V	707;287;707;286	ENSP00000449629:G707V;ENSP00000448512:G287V;ENSP00000331381:G707V	.	G	-	2	0	ANKS1B	98164410	0.881000	0.30235	0.882000	0.34594	0.508000	0.34012	3.042000	0.49815	2.655000	0.90218	0.561000	0.74099	GGG		PASS	0.448	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		67	61	67	61	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100795605	100795605	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:100795605C>A	ENST00000323346.5	+	6	1040	c.727C>A	c.(727-729)Cag>Aag	p.Q243K	snoU13_ENST00000459038.1_RNA|SLC17A8_ENST00000392989.3_Missense_Mutation_p.Q243K	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	243					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|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.Q243K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGTGTTGGTGCAGTACATTGG	0.453																																						uc010svi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(727-729)CAG>AAG		solute carrier family 17 (sodium-dependent							327.0	306.0	313.0					12																	100795605		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100795605C>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.727C>A	12.37:g.100795605C>A	ENSP00000316909:p.Gln243Lys					SLC17A8_uc009ztx.2_Missense_Mutation_p.Q243K	p.Q243K	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			6	1040	+			243			Vesicular (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.727C>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224268	0.58668	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.57595	0.39;0.39	5.45	5.45	0.79879	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.45094	0.1325	L	0.28649	0.875	0.80722	D	1	B;B	0.29188	0.236;0.198	B;B	0.34301	0.179;0.07	T	0.28808	-1.0032	10	0.11485	T	0.65	.	19.661	0.95871	0.0:1.0:0.0:0.0	.	243;243	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	K	243	ENSP00000316909:Q243K;ENSP00000376715:Q243K	ENSP00000316909:Q243K	Q	+	1	0	SLC17A8	99319736	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	7.762000	0.85270	2.714000	0.92807	0.563000	0.77884	CAG		PASS	0.453	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		176	186	176	186	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104149394	104149394	+	Silent	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:104149394G>A	ENST00000388887.2	+	63	7089	c.6885G>A	c.(6883-6885)gtG>gtA	p.V2295V	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.V2295V(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTCCAGATGTGAACTGCACCT	0.587																																						uc001tjw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(5)	14						c.(6883-6885)GTG>GTA		stabilin 2 precursor							162.0	147.0	152.0					12																	104149394		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104149394G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6885G>A	12.37:g.104149394G>A						STAB2_uc009zug.2_Intron	p.V2295V	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			63	7071	+			2295			Extracellular (Potential).			Silent	SNP	ENST00000388887.2	37	c.6885G>A	CCDS31888.1																																																																																				PASS	0.587	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			119	73	119	73	---	---	---	---
ASCL4	121549	broad.mit.edu	37	12	108169159	108169159	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:108169159C>G	ENST00000342331.4	+	1	998	c.167C>G	c.(166-168)gCa>gGa	p.A56G		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	55					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A55G(1)		breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						AGCGGCTGCGCACGGGGATGG	0.756																																					GBM(170;776 3695 11650)	uc001tmr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(166-168)GCA>GGA		achaete-scute complex-like 4							7.0	8.0	8.0					12																	108169159		2063	4032	6095	SO:0001583	missense	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169159C>G	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.167C>G	12.37:g.108169159C>G	ENSP00000345420:p.Ala56Gly						p.A56G	NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN			1	998	+			55					Q7RTS2	Missense_Mutation	SNP	ENST00000342331.4	37	c.167C>G	CCDS31894.2	.	.	.	.	.	.	.	.	.	.	C	8.173	0.792154	0.16258	.	.	ENSG00000187855	ENST00000342331	D	0.96587	-4.06	4.49	2.58	0.30949	.	0.615163	0.14495	N	0.316154	D	0.91362	0.7275	L	0.29908	0.895	0.09310	N	1	B	0.20052	0.041	B	0.16722	0.016	T	0.81812	-0.0761	10	0.30078	T	0.28	-28.5315	7.5778	0.27946	0.1627:0.7514:0.0:0.0859	.	55	Q6XD76	ASCL4_HUMAN	G	56	ENSP00000345420:A56G	ENSP00000345420:A56G	A	+	2	0	ASCL4	106693289	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	2.023000	0.41040	0.401000	0.25424	0.484000	0.47621	GCA		PASS	0.756	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		9	6	9	6	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130919366	130919366	+	Silent	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:130919366G>A	ENST00000261655.4	-	11	2278	c.2115C>T	c.(2113-2115)gaC>gaT	p.D705D	RIMBP2_ENST00000536002.1_Silent_p.D613D|RIMBP2_ENST00000535703.1_Silent_p.D613D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	705					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D705D(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGTCCTCCTCGTCTGAGGCGG	0.597																																						uc001uil.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(2113-2115)GAC>GAT		RIM-binding protein 2							67.0	73.0	71.0					12																	130919366		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130919366G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2115C>T	12.37:g.130919366G>A						RIMBP2_uc001uim.2_Silent_p.D613D|RIMBP2_uc001uin.1_Silent_p.D364D	p.D705D	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	11	2279	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	705					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.2115C>T	CCDS31925.1																																																																																				PASS	0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		107	54	107	54	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29599829	29599829	+	Missense_Mutation	SNP	C	C	A	rs182740	byFrequency	TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr13:29599829C>A	ENST00000431530.3	+	1	1082	c.1024C>A	c.(1024-1026)Ctg>Atg	p.L342M		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	332						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.L342M(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGAAGGGTATCTGGGATGCCA	0.547																																						uc001usl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1024-1026)CTG>ATG		hypothetical protein LOC23281 isoform a							49.0	51.0	50.0					13																	29599829		1997	4169	6166	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599829C>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1024C>A	13.37:g.29599829C>A	ENSP00000392057:p.Leu342Met						p.L342M	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	1082	+			332					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1024C>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	13.36	2.214220	0.39102	.	.	ENSG00000132938	ENST00000431530	T	0.17691	2.26	5.47	1.1	0.20463	.	.	.	.	.	T	0.25494	0.0620	L	0.51422	1.61	0.80722	P	0.0	D	0.57571	0.98	P	0.60415	0.874	T	0.26360	-1.0105	7	.	.	.	.	5.4064	0.16324	0.0:0.5059:0.2961:0.198	.	332	Q5JR59	MTUS2_HUMAN	M	342	ENSP00000392057:L342M	.	L	+	1	2	MTUS2	28497829	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.531000	0.23052	0.148000	0.19059	-0.150000	0.13652	CTG		PASS	0.547	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		53	79	53	79	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39264593	39264593	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr13:39264593G>T	ENST00000280481.7	+	1	3328	c.3112G>T	c.(3112-3114)Gat>Tat	p.D1038Y		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1038					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1038Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGTCTGTCAGATATGTCTCA	0.453																																						uc001uwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(3112-3114)GAT>TAT		FRAS1-related extracellular matrix protein 2							128.0	130.0	129.0					13																	39264593		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264593G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3112G>T	13.37:g.39264593G>T	ENSP00000280481:p.Asp1038Tyr						p.D1038Y	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3421	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1038			CSPG 6.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.3112G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.573041	0.65765	.	.	ENSG00000150893	ENST00000280481	T	0.48201	0.82	5.79	5.79	0.91817	.	0.198299	0.51477	D	0.000093	T	0.75391	0.3843	H	0.94423	3.535	0.80722	D	1	D	0.64830	0.994	P	0.56788	0.806	T	0.82497	-0.0428	10	0.87932	D	0	.	20.0413	0.97592	0.0:0.0:1.0:0.0	.	1038	Q5SZK8	FREM2_HUMAN	Y	1038	ENSP00000280481:D1038Y	ENSP00000280481:D1038Y	D	+	1	0	FREM2	38162593	1.000000	0.71417	0.945000	0.38365	0.992000	0.81027	8.015000	0.88690	2.751000	0.94390	0.650000	0.86243	GAT		PASS	0.453	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		165	285	165	285	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39454818	39454818	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr13:39454818G>T	ENST00000280481.7	+	24	9620	c.9404G>T	c.(9403-9405)tGc>tTc	p.C3135F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3135					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C3135F(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGCTGATGTGCAGGGGCAAG	0.587																																						uc001uwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(9403-9405)TGC>TTC		FRAS1-related extracellular matrix protein 2							62.0	61.0	61.0					13																	39454818		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39454818G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.9404G>T	13.37:g.39454818G>T	ENSP00000280481:p.Cys3135Phe						p.C3135F	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	24	9713	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	3135			Cytoplasmic (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.9404G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368712	0.42003	.	.	ENSG00000150893	ENST00000280481	T	0.17854	2.25	5.8	2.84	0.33178	.	0.424832	0.26146	N	0.026062	T	0.09423	0.0232	N	0.22421	0.69	0.30051	N	0.81177	B	0.06786	0.001	B	0.09377	0.004	T	0.14531	-1.0469	10	0.27785	T	0.31	.	5.1729	0.15120	0.1788:0.0:0.4792:0.342	.	3135	Q5SZK8	FREM2_HUMAN	F	3135	ENSP00000280481:C3135F	ENSP00000280481:C3135F	C	+	2	0	FREM2	38352818	0.908000	0.30866	0.437000	0.26809	0.653000	0.38743	2.049000	0.41288	0.787000	0.33731	0.563000	0.77884	TGC		PASS	0.587	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		29	71	29	71	---	---	---	---
COG3	83548	broad.mit.edu	37	13	46067577	46067577	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr13:46067577G>A	ENST00000349995.5	+	12	1395	c.1283G>A	c.(1282-1284)gGg>gAg	p.G428E	COG3_ENST00000465942.1_3'UTR	NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	428					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.G428E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		GAACTTTGTGGGATTCTTAAA	0.353																																					Ovarian(150;1048 1859 18083 21577 42700)	uc001vak.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(1282-1284)GGG>GAG		component of golgi transport complex 3							160.0	150.0	154.0					13																	46067577		2203	4300	6503	SO:0001583	missense	83548				ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity	g.chr13:46067577G>A	AF131829	CCDS9398.1	13q14.11	2008-02-05			ENSG00000136152	ENSG00000136152		"""Components of oligomeric golgi complex"""	18619	protein-coding gene	gene with protein product		606975				11980916	Standard	NM_031431		Approved	SEC34	uc001vak.3	Q96JB2	OTTHUMG00000016855	ENST00000349995.5:c.1283G>A	13.37:g.46067577G>A	ENSP00000258654:p.Gly428Glu					COG3_uc001vai.2_Missense_Mutation_p.G428E|COG3_uc001vaj.1_Missense_Mutation_p.G428E|COG3_uc010tfv.1_Missense_Mutation_p.G265E|COG3_uc010aci.2_Missense_Mutation_p.G204E	p.G428E	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)	12	1384	+		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	428					B2RAW5|Q5VT70|Q8IXX4|Q9BZ92	Missense_Mutation	SNP	ENST00000349995.5	37	c.1283G>A	CCDS9398.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001749	0.54254	.	.	ENSG00000136152	ENST00000349995	T	0.39592	1.07	5.63	5.63	0.86233	.	0.053555	0.85682	D	0.000000	T	0.22936	0.0554	N	0.12746	0.255	0.58432	D	0.999993	B;P;B	0.38922	0.016;0.651;0.037	B;B;B	0.33339	0.005;0.162;0.017	T	0.13818	-1.0495	10	0.05436	T	0.98	-13.1153	18.6619	0.91474	0.0:0.0:1.0:0.0	.	265;428;428	B4E2F3;Q96JB2;Q96JB2-2	.;COG3_HUMAN;.	E	428	ENSP00000258654:G428E	ENSP00000258654:G428E	G	+	2	0	COG3	44965578	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	2.647000	0.89833	0.460000	0.39030	GGG		PASS	0.353	COG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044777.2			82	210	82	210	---	---	---	---
EBPL	84650	broad.mit.edu	37	13	50265552	50265552	+	Silent	SNP	A	A	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr13:50265552A>G	ENST00000242827.6	-	1	59	c.9T>C	c.(7-9)gcT>gcC	p.A3A	EBPL_ENST00000378272.5_Silent_p.A3A|EBPL_ENST00000378270.5_Silent_p.A3A|EBPL_ENST00000378284.2_Silent_p.A3A|EBPL_ENST00000378268.1_Silent_p.A3A|EBPL_ENST00000378282.5_Silent_p.A3A|EBPL_ENST00000495963.2_5'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	3					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.A3A(1)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GCTCCCACTCAGCGCCCATGC	0.756																																					NSCLC(39;857 1083 36109 42364 51411)	uc001vdg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(7-9)GCT>GCC		emopamil binding related protein, delta8-delta7							6.0	7.0	6.0					13																	50265552		1756	3625	5381	SO:0001819	synonymous_variant	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50265552A>G	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.9T>C	13.37:g.50265552A>G						EBPL_uc001vdh.2_RNA|EBPL_uc001vdi.2_Silent_p.A3A	p.A3A	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	1	72	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	3					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Silent	SNP	ENST00000242827.6	37	c.9T>C	CCDS9420.1																																																																																				PASS	0.756	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		6	16	6	16	---	---	---	---
SPRYD7	57213	broad.mit.edu	37	13	50495673	50495673	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr13:50495673C>A	ENST00000361840.3	-	4	538	c.434G>T	c.(433-435)gGa>gTa	p.G145V	SPRYD7_ENST00000378195.2_Missense_Mutation_p.G106V	NM_020456.2	NP_065189.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	145	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.							p.G145V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						CATGTTTTTTCCATTCAAGTA	0.343																																						uc001vdl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(433-435)GGA>GTA		chromosome 13 open reading frame 1 isoform 1							123.0	118.0	120.0					13																	50495673		2203	4300	6503	SO:0001583	missense	57213							g.chr13:50495673C>A	AF055016	CCDS9422.1, CCDS45046.1	13q14.3	2011-05-25	2011-05-25	2011-05-25	ENSG00000123178	ENSG00000123178			14297	protein-coding gene	gene with protein product		607866	"""chromosome 13 open reading frame 1"""	C13orf1		11306461, 11771308	Standard	NM_020456		Approved	CLLD6	uc001vdl.2	Q5W111	OTTHUMG00000016924	ENST00000361840.3:c.434G>T	13.37:g.50495673C>A	ENSP00000354774:p.Gly145Val					C13orf1_uc001vdm.2_Missense_Mutation_p.G106V|C13orf1_uc010tgm.1_RNA|C13orf1_uc010adj.2_Missense_Mutation_p.G145V	p.G145V	NM_020456	NP_065189	Q5W111	SPRY7_HUMAN		GBM - Glioblastoma multiforme(99;1.72e-10)|COAD - Colon adenocarcinoma(199;0.208)	4	696	-		Lung NSC(96;7.5e-06)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Acute lymphoblastic leukemia(7;0.117)	145			B30.2/SPRY.		A8K3G1|O60648|Q8TBG8|Q96T69	Missense_Mutation	SNP	ENST00000361840.3	37	c.434G>T	CCDS9422.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819941	0.90873	.	.	ENSG00000123178	ENST00000361840;ENST00000378195	T;T	0.67865	-0.29;-0.29	5.39	5.39	0.77823	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.84183	0.5416	M	0.85197	2.74	0.80722	D	1	D;D;D	0.76494	0.999;0.966;0.989	D;P;D	0.74674	0.984;0.886;0.923	D	0.86621	0.1879	10	0.87932	D	0	-11.1096	19.1686	0.93567	0.0:1.0:0.0:0.0	.	145;106;145	B2RE68;Q5W111-2;Q5W111	.;.;SPRY7_HUMAN	V	145;106	ENSP00000354774:G145V;ENSP00000367437:G106V	ENSP00000354774:G145V	G	-	2	0	SPRYD7	49393674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.595000	0.82710	2.515000	0.84797	0.655000	0.94253	GGA		PASS	0.343	SPRYD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044942.2	NM_020456		63	134	63	134	---	---	---	---
SPRY2	10253	broad.mit.edu	37	13	80911698	80911698	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr13:80911698G>C	ENST00000377102.1	-	2	1120	c.143C>G	c.(142-144)gCc>gGc	p.A48G	SPRY2_ENST00000377104.3_Missense_Mutation_p.A48G|SPRY2_ENST00000540649.1_Missense_Mutation_p.A48G			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	48				A -> V (in Ref. 2; BAG36546). {ECO:0000305}.	bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)	p.A48G(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		GTTTCGGATGGCTCTGATCTG	0.612																																						uc001vli.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(142-144)GCC>GGC		sprouty 2							113.0	111.0	112.0					13																	80911698		2203	4300	6503	SO:0001583	missense	10253				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	g.chr13:80911698G>C	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.143C>G	13.37:g.80911698G>C	ENSP00000366306:p.Ala48Gly					SPRY2_uc001vlj.2_Missense_Mutation_p.A48G	p.A48G	NM_005842	NP_005833	O43597	SPY2_HUMAN		GBM - Glioblastoma multiforme(99;0.0318)	2	1121	-	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)	48					B2R9J9|Q5T6Z7	Missense_Mutation	SNP	ENST00000377102.1	37	c.143C>G	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400246	0.62177	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.57907	0.37;0.37;0.37	5.44	5.44	0.79542	.	0.234521	0.43747	D	0.000529	T	0.57975	0.2090	M	0.73962	2.25	0.43868	D	0.996476	B	0.23058	0.079	B	0.19391	0.025	T	0.59279	-0.7484	10	0.72032	D	0.01	.	19.3512	0.94387	0.0:0.0:1.0:0.0	.	48	O43597	SPY2_HUMAN	G	48	ENSP00000366308:A48G;ENSP00000366306:A48G;ENSP00000439027:A48G	ENSP00000366306:A48G	A	-	2	0	SPRY2	79809699	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.083000	0.64456	2.571000	0.86741	0.650000	0.86243	GCC		PASS	0.612	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			86	151	86	151	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88327697	88327697	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr13:88327697G>A	ENST00000325089.6	+	2	273	c.54G>A	c.(52-54)atG>atA	p.M18I	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	18					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.M18I(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)					ACAGAAAAATGCATAGCTGGA	0.438																																						uc001vln.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(52-54)ATG>ATA		SLIT and NTRK-like family, member 5 precursor							115.0	104.0	108.0					13																	88327697		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88327697G>A	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.54G>A	13.37:g.88327697G>A	ENSP00000366283:p.Met18Ile					SLITRK5_uc010tic.1_Intron	p.M18I	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	273	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		18					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.54G>A	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648445	0.47258	.	.	ENSG00000165300	ENST00000325089	T	0.57752	0.38	5.77	5.77	0.91146	.	0.148024	0.64402	D	0.000015	T	0.57621	0.2066	L	0.50333	1.59	0.80722	D	1	D	0.65815	0.995	P	0.50136	0.632	T	0.54476	-0.8288	9	.	.	.	-17.5947	17.49	0.87701	0.0:0.0:1.0:0.0	.	18	O94991	SLIK5_HUMAN	I	18	ENSP00000366283:M18I	.	M	+	3	0	SLITRK5	87125698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.439000	0.97543	2.744000	0.94065	0.561000	0.74099	ATG		PASS	0.438	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			88	165	88	165	---	---	---	---
FARP1	10160	broad.mit.edu	37	13	99047633	99047633	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr13:99047633G>T	ENST00000319562.6	+	13	1582	c.1317G>T	c.(1315-1317)caG>caT	p.Q439H	FARP1_ENST00000376586.2_Missense_Mutation_p.Q439H|FARP1_ENST00000595437.1_Missense_Mutation_p.Q439H	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	439					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.Q439H(2)		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)			GTAACAAGCAGGCGGACGGAG	0.687																																						uc001vnj.2																			2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(1315-1317)CAG>CAT		FERM, RhoGEF, and pleckstrin domain protein 1							18.0	24.0	22.0					13																	99047633		2169	4243	6412	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.chr13:99047633G>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.1317G>T	13.37:g.99047633G>T	ENSP00000322926:p.Gln439His					FARP1_uc001vnh.2_Missense_Mutation_p.Q439H	p.Q439H	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		13	1653	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		439					Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	c.1317G>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256871	0.22965	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.78816	-1.21;-1.05	4.8	0.376	0.16193	.	3.437220	0.00575	N	0.000303	T	0.55940	0.1952	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50259	-0.8849	10	0.33940	T	0.23	.	8.005	0.30319	0.0752:0.0:0.5228:0.402	.	439;439	Q9Y4F1;C9JME2	FARP1_HUMAN;.	H	439;144;439	ENSP00000365771:Q439H;ENSP00000322926:Q439H	ENSP00000322926:Q439H	Q	+	3	2	FARP1	97845634	0.752000	0.28338	0.004000	0.12327	0.015000	0.08874	2.146000	0.42216	0.396000	0.25283	0.462000	0.41574	CAG		PASS	0.687	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		34	28	34	28	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101890194	101890194	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr13:101890194G>T	ENST00000251127.6	-	12	1427	c.1346C>A	c.(1345-1347)tCt>tAt	p.S449Y	NALCN_ENST00000376196.3_Missense_Mutation_p.S449Y|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	449					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.S449Y(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTGTGGAGAGATGAGCTAAT	0.338																																						uc001vox.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(1345-1347)TCT>TAT		voltage gated channel like 1							157.0	166.0	163.0					13																	101890194		2203	4299	6502	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101890194G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1346C>A	13.37:g.101890194G>T	ENSP00000251127:p.Ser449Tyr					NALCN_uc001voy.2_Missense_Mutation_p.S164Y|NALCN_uc001voz.2_Missense_Mutation_p.S449Y|NALCN_uc001vpa.2_Missense_Mutation_p.S449Y	p.S449Y	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			12	1535	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		449			Helical; Name=S3 of repeat II; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1346C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338019	0.81911	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98012	-4.66;-4.66	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	0.992;1.0;0.992	D;D;D	0.79108	0.963;0.992;0.945	D	0.99053	1.0828	10	0.49607	T	0.09	.	19.1638	0.93546	0.0:0.0:1.0:0.0	.	449;449;449	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	Y	449	ENSP00000251127:S449Y;ENSP00000365367:S449Y	ENSP00000251127:S449Y	S	-	2	0	NALCN	100688195	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.414000	0.97362	2.593000	0.87608	0.491000	0.48974	TCT		PASS	0.338	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		70	118	70	118	---	---	---	---
ITGBL1	9358	broad.mit.edu	37	13	102367913	102367913	+	Splice_Site	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr13:102367913G>A	ENST00000376180.3	+	11	1613	c.1394G>A	c.(1393-1395)gGg>gAg	p.G465E	ITGBL1_ENST00000545560.2_Splice_Site_p.G324E|ITGBL1_ENST00000376162.3_Splice_Site_p.G372E|RP11-397O8.7_ENST00000606869.1_lincRNA	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	465	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)		p.G465E(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTATTGCAGGGAATGGAATA	0.338																																						uc001vpb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1393-1395)GGG>GAG		integrin, beta-like 1 (with EGF-like repeat							216.0	213.0	214.0					13																	102367913		2203	4300	6503	SO:0001630	splice_region_variant	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102367913G>A	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.1394-1G>A	13.37:g.102367913G>A						ITGBL1_uc010agb.2_Missense_Mutation_p.G416E|ITGBL1_uc001vpc.3_Missense_Mutation_p.G324E	p.G465E	NM_004791	NP_004782	O95965	ITGBL_HUMAN			11	1613	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		465			X.|Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	ENST00000376180.3	37	c.1394G>A	CCDS9499.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718645	0.89205	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.86297	-2.1;-2.1;-2.1	5.94	5.94	0.96194	EGF, extracellular (1);	0.049233	0.85682	D	0.000000	D	0.93828	0.8026	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92785	0.6243	9	.	.	.	.	20.3575	0.98842	0.0:0.0:1.0:0.0	.	324;465	B3KTP1;O95965	.;ITGBL_HUMAN	E	465;373;324;324;372	ENSP00000365351:G465E;ENSP00000439903:G324E;ENSP00000365332:G372E	.	G	+	2	0	ITGBL1	101165914	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.224000	0.95209	2.809000	0.96659	0.655000	0.94253	GGG		PASS	0.338	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	NM_004791	Missense_Mutation	140	330	140	330	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33291723	33291723	+	Missense_Mutation	SNP	T	T	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr14:33291723T>G	ENST00000280979.4	+	13	4874	c.4704T>G	c.(4702-4704)atT>atG	p.I1568M	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1568	Ser-rich.				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.I1568M(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)		GTTCATCTATTGAGTCCCTTT	0.403																																					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.(4702-4704)ATT>ATG		A-kinase anchor protein 6							101.0	107.0	105.0					14																	33291723		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291723T>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.4704T>G	14.37:g.33291723T>G	ENSP00000280979:p.Ile1568Met						p.I1568M	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)	13	4874	+	Breast(36;0.0388)|Prostate(35;0.15)		1568			Ser-rich.		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4704T>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.405159	0.25378	.	.	ENSG00000151320	ENST00000280979	T	0.05855	3.38	5.79	-3.26	0.05064	.	0.527792	0.19240	N	0.119181	T	0.03263	0.0095	L	0.36672	1.1	0.80722	D	1	P	0.34780	0.468	B	0.27500	0.08	T	0.48293	-0.9048	10	0.87932	D	0	-1.9296	1.0653	0.01609	0.2975:0.1184:0.3281:0.256	.	1568	Q13023	AKAP6_HUMAN	M	1568	ENSP00000280979:I1568M	ENSP00000280979:I1568M	I	+	3	3	AKAP6	32361474	0.917000	0.31117	0.980000	0.43619	0.947000	0.59692	-0.122000	0.10627	-0.121000	0.11787	0.528000	0.53228	ATT		PASS	0.403	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		153	315	153	315	---	---	---	---
SLC25A21	89874	broad.mit.edu	37	14	37180664	37180664	+	Silent	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr14:37180664T>A	ENST00000331299.5	-	7	977	c.462A>T	c.(460-462)gcA>gcT	p.A154A	SLC25A21_ENST00000555449.1_Silent_p.A154A	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	154					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.A154A(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGATTTGTCTTGCATAACCCA	0.438																																						uc001wtz.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(460-462)GCA>GCT		solute carrier family 25 (mitochondrial							93.0	84.0	87.0					14																	37180664		2203	4300	6503	SO:0001819	synonymous_variant	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37180664T>A	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.462A>T	14.37:g.37180664T>A							p.A154A	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	7	772	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		154			Solcar 2.		A8K0L0|G3V4L5|Q3MJ99	Silent	SNP	ENST00000331299.5	37	c.462A>T	CCDS9663.1																																																																																				PASS	0.438	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631		56	101	56	101	---	---	---	---
GCH1	2643	broad.mit.edu	37	14	55312518	55312519	+	Missense_Mutation	DNP	CC	CC	AA	rs201238926		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr14:55312518_55312519CC>AA	ENST00000491895.2	-	5	781_782	c.593_594GG>TT	c.(592-594)cGG>cTT	p.R198L	GCH1_ENST00000395514.1_Missense_Mutation_p.R198L|GCH1_ENST00000543643.2_Missense_Mutation_p.R198L|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000536224.2_Missense_Mutation_p.R198L	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	198					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.R198L(2)|p.R198R(1)		endometrium(2)|lung(7)|skin(2)	11						CTCCAGCAGGCCGCAAGGCTTC	0.47																																					Pancreas(198;1245 2204 4807 21567 38372)	uc001xbh.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(1)	1						c.(592-594)CGG>CGT|c.(592-594)CGG>CTG		GTP cyclohydrolase 1 isoform 1																																				SO:0001583	missense	2643				dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding	g.chr14:55312518C>A|g.chr14:55312519C>A	U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"""dopa-responsive dystonia"""	600225	"""dystonia 14"""	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.593_594delinsAA	14.37:g.55312518_55312519delinsAA	ENSP00000419045:p.Arg198Leu					GCH1_uc001xbi.1_Silent_p.R198R|GCH1_uc001xbj.1_Silent_p.R198R|GCH1_uc001xbk.1_Silent_p.R198R|GCH1_uc010aol.1_Intron|GCH1_uc001xbl.1_Silent_p.R198R|GCH1_uc001xbi.1_Missense_Mutation_p.R198L|GCH1_uc001xbj.1_Missense_Mutation_p.R198L|GCH1_uc001xbk.1_Missense_Mutation_p.R198L|GCH1_uc010aol.1_Intron|GCH1_uc001xbl.1_Missense_Mutation_p.R198L	p.R198R|p.R198L	NM_001024024	NP_001019195	P30793	GCH1_HUMAN			5	755|754	-			198					Q6FHY7|Q9Y4I8	Silent|Missense_Mutation	SNP	ENST00000491895.2	37	c.594G>T|c.593G>T	CCDS9720.1																																																																																				PASS	0.470	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276895.3			76	184	76	184	---	---	---	---
SIX1	6495	broad.mit.edu	37	14	61115580	61115580	+	Missense_Mutation	SNP	G	G	C	rs80356459		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr14:61115580G>C	ENST00000247182.6	-	1	600	c.328C>G	c.(328-330)Cgg>Ggg	p.R110G	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	110			R -> Q (in BOS3). {ECO:0000269|PubMed:18330911}.|R -> W (in BOS3; crucial for interaction with EYA1, DNA binding and transcription factor activity). {ECO:0000269|PubMed:15141091, ECO:0000269|PubMed:18330911}.		aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|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)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R110G(1)|p.R110R(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CGGCGCACCCGATATTTGCCC	0.632																																						uc001xfb.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|breast(1)		0	GRCh37	CM041438	SIX1	M	rs80356459	c.(328-330)CGG>GGG		SIX homeobox 1							55.0	60.0	58.0					14																	61115580		2203	4300	6503	SO:0001583	missense	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61115580G>C	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.328C>G	14.37:g.61115580G>C	ENSP00000247182:p.Arg110Gly						p.R110G	NM_005982	NP_005973	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	576	-			110		R -> Q (in BOS3).|R -> W (in BOS3; crucial for EYA1-SIX1 interaction).			Q53Y16|Q96H64	Missense_Mutation	SNP	ENST00000247182.6	37	c.328C>G	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617840	0.87359	.	.	ENSG00000126778	ENST00000247182	D	0.93488	-3.23	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.98574	1.0647	10	0.87932	D	0	-21.0336	14.5323	0.67934	0.0:0.0:0.8534:0.1466	.	110	Q15475	SIX1_HUMAN	G	110	ENSP00000247182:R110G	ENSP00000247182:R110G	R	-	1	2	SIX1	60185333	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.539000	0.67199	2.748000	0.94277	0.655000	0.94253	CGG		PASS	0.632	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			64	83	64	83	---	---	---	---
PAPLN	89932	broad.mit.edu	37	14	73718432	73718432	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr14:73718432G>T	ENST00000554301.1	+	8	894	c.731G>T	c.(730-732)cGg>cTg	p.R244L	PAPLN_ENST00000427855.1_Missense_Mutation_p.R244L|PAPLN_ENST00000555445.1_Missense_Mutation_p.R244L|PAPLN_ENST00000340738.5_Missense_Mutation_p.R217L|PAPLN_ENST00000381166.3_Missense_Mutation_p.R244L			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	244						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.R217L(1)|p.R244L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GAGGCGGCCCGGGCCCTGCCA	0.672																																						uc010ttx.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(730-732)CGG>CTG		papilin							35.0	41.0	39.0					14																	73718432		2203	4298	6501	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73718432G>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.731G>T	14.37:g.73718432G>T	ENSP00000451803:p.Arg244Leu					PAPLN_uc001xnw.3_Missense_Mutation_p.R217L|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.R244L	p.R244L	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	8	894	+			244					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.731G>T		.	.	.	.	.	.	.	.	.	.	g	11.38	1.621082	0.28889	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	4.99	0.679	0.17975	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.56046	0.1959	M	0.89214	3.015	0.21445	N	0.999685	P;P;P	0.46142	0.553;0.608;0.873	B;B;B	0.40982	0.156;0.243;0.345	T	0.51132	-0.8744	9	0.48119	T	0.1	.	8.5506	0.33449	0.3768:0.0:0.6232:0.0	.	244;244;217	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	L	217;244;244;244;244	ENSP00000345395:R217L;ENSP00000403403:R244L;ENSP00000370558:R244L;ENSP00000451803:R244L;ENSP00000451729:R244L	ENSP00000216658:R244L	R	+	2	0	PAPLN	72788185	0.969000	0.33509	0.079000	0.20413	0.062000	0.15995	2.209000	0.42806	0.071000	0.16664	-0.993000	0.02533	CGG		PASS	0.672	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		25	39	25	39	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79433705	79433705	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr14:79433705C>G	ENST00000554719.1	+	10	2304	c.1813C>G	c.(1813-1815)Cag>Gag	p.Q605E	NRXN3_ENST00000335750.5_Missense_Mutation_p.Q605E	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	196					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.Q605E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGTGGTCACTCAGGTTATCAA	0.403																																						uc001xun.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1813-1815)CAG>GAG		neurexin 3 isoform 1 precursor							84.0	74.0	78.0					14																	79433705		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79433705C>G	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1813C>G	14.37:g.79433705C>G	ENSP00000451648:p.Gln605Glu					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.Q730E	p.Q605E	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	10	2304	+		Renal(4;0.00876)	978			Extracellular (Potential).|Laminin G-like 5.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1813C>G	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358850	0.82353	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76186	-1.0;-1.0	5.65	5.65	0.86999	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.78898	0.4356	.	.	.	0.58432	D	0.999998	D;P	0.61697	0.99;0.952	P;B	0.50049	0.629;0.302	T	0.77081	-0.2720	8	.	.	.	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	978;605	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	E	978;967;605;605	ENSP00000451648:Q605E;ENSP00000338349:Q605E	.	Q	+	1	0	NRXN3	78503458	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.810000	0.69179	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.403	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		50	68	50	68	---	---	---	---
IGHA2	3494	broad.mit.edu	37	14	106054595	106054595	+	RNA	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr14:106054595C>G	ENST00000390539.2	-	0	137				AL928742.2_ENST00000578042.1_RNA|AL928742.1_ENST00000581377.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										CGGTCACGTTCTGTCCGCTTT	0.642																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							86.0	96.0	93.0					14																	106054595		2129	4236	6365			8755							g.chr14:106054595C>G	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106054595C>G						uc001yrs.2_RNA|uc001yrt.2_Missense_Mutation_p.Q52H								3650		-									RNA	SNP	ENST00000390539.2	37	c.62891G>C																																																																																					PASS	0.642	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		31	53	31	53	---	---	---	---
IGHD	3495	broad.mit.edu	37	14	106311969	106311969	+	RNA	SNP	A	A	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr14:106311969A>G	ENST00000390556.2	-	0	41							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GGGTGTCTGCACCCTGATATG	0.582																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							104.0	101.0	102.0					14																	106311969		2070	4194	6264			8755							g.chr14:106311969A>G	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106311969A>G						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Missense_Mutation_p.C29R|uc001ysk.1_Missense_Mutation_p.C29R|uc001ysl.1_Missense_Mutation_p.C29R|uc001ysm.1_5'UTR|uc001ysn.1_5'UTR|uc001yso.1_5'UTR								3608		-								Q6P4I8|Q8WU38	RNA	SNP	ENST00000390556.2	37	c.56954T>C																																																																																					PASS	0.582	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		52	94	52	94	---	---	---	---
IGHV3-72	28410	broad.mit.edu	37	14	107199225	107199225	+	RNA	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr14:107199225G>T	ENST00000433072.2	-	0	143									immunoglobulin heavy variable 3-72																		TCCACCAGCTGCACCTCACAC	0.547																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							113.0	109.0	111.0					14																	107199225		1900	4104	6004			8755							g.chr14:107199225G>T	X92206		14q32.33	2012-02-08			ENSG00000225698	ENSG00000225698		"""Immunoglobulins / IGH locus"""	5622	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151865		14.37:g.107199225G>T														21		-									RNA	SNP	ENST00000433072.2	37	c.1473C>A																																																																																					PASS	0.547	IGHV3-72-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324210.1	NG_001019		86	139	86	139	---	---	---	---
C15orf53	400359	broad.mit.edu	37	15	38990597	38990597	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr15:38990597C>G	ENST00000318792.1	+	2	401	c.391C>G	c.(391-393)Cgc>Ggc	p.R131G		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	131								p.R131G(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		AACTGTGCCCCGCCGTTCACC	0.547																																						uc001zkf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(391-393)CGC>GGC		hypothetical protein LOC400359							45.0	47.0	46.0					15																	38990597		2200	4297	6497	SO:0001583	missense	400359							g.chr15:38990597C>G		CCDS10048.1	15q14	2007-11-21			ENSG00000175779	ENSG00000175779			33796	protein-coding gene	gene with protein product							Standard	NM_207444		Approved	FLJ35695	uc001zkf.1	Q8NAA6	OTTHUMG00000129841	ENST00000318792.1:c.391C>G	15.37:g.38990597C>G	ENSP00000325144:p.Arg131Gly						p.R131G	NM_207444	NP_997327	Q8NAA6	CO053_HUMAN		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)	2	401	+		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	131						Missense_Mutation	SNP	ENST00000318792.1	37	c.391C>G	CCDS10048.1	.	.	.	.	.	.	.	.	.	.	C	7.291	0.611119	0.14066	.	.	ENSG00000175779	ENST00000318792	T	0.39229	1.09	2.97	0.239	0.15484	.	.	.	.	.	T	0.19886	0.0478	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.19391	0.025	T	0.22312	-1.0220	9	0.87932	D	0	.	2.4038	0.04407	0.2374:0.1407:0.0:0.6219	.	131	Q8NAA6	CO053_HUMAN	G	131	ENSP00000325144:R131G	ENSP00000325144:R131G	R	+	1	0	C15orf53	36777889	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.435000	0.06931	0.083000	0.17047	-0.658000	0.03865	CGC		PASS	0.547	C15orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252081.1	NM_207444		24	15	24	15	---	---	---	---
DUOX2	50506	broad.mit.edu	37	15	45390241	45390241	+	Missense_Mutation	SNP	C	C	A	rs144254445	byFrequency	TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr15:45390241C>A	ENST00000603300.1	-	27	3733	c.3531G>T	c.(3529-3531)caG>caT	p.Q1177H	DUOX2_ENST00000389039.6_Missense_Mutation_p.Q1177H	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1177	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.Q1177H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AATAGAACTTCTGGGGAAGCT	0.562													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18418	0.0		0.0	False		,,,				2504	0.0					uc010bea.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(3529-3531)CAG>CAT		dual oxidase 2 precursor		C	HIS/GLN	5,4391	9.9+/-24.2	0,5,2193	54.0	50.0	51.0		3531	1.4	1.0	15	dbSNP_134	51	0,8596		0,0,4298	yes	missense	DUOX2	NM_014080.4	24	0,5,6491	AA,AC,CC		0.0,0.1137,0.0385	benign	1177/1549	45390241	5,12987	2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45390241C>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3531G>T	15.37:g.45390241C>A	ENSP00000475084:p.Gln1177His					DUOX2_uc001zun.2_Missense_Mutation_p.Q1177H	p.Q1177H	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	27	3734	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1177			Extracellular (Potential).|Interaction with TXNDC11 (By similarity).|Ferric oxidoreductase.		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.3531G>T	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851344	0.51270	0.001137	0.0	ENSG00000140279	ENST00000389039	.	.	.	5.84	1.42	0.22433	Flavoprotein transmembrane component (1);	0.513375	0.22797	N	0.055526	T	0.35828	0.0945	L	0.39020	1.185	0.32642	N	0.520551	P	0.41366	0.747	P	0.49637	0.617	T	0.46148	-0.9212	9	0.62326	D	0.03	-9.0751	1.5037	0.02482	0.1424:0.4513:0.1389:0.2674	.	1177	Q9NRD8	DUOX2_HUMAN	H	1177	.	ENSP00000373691:Q1177H	Q	-	3	2	DUOX2	43177533	0.735000	0.28153	0.963000	0.40424	0.714000	0.41099	0.040000	0.13905	0.283000	0.22279	0.563000	0.77884	CAG		PASS	0.562	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		55	36	55	36	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48766523	48766523	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr15:48766523C>T	ENST00000316623.5	-	34	4594	c.4139G>A	c.(4138-4140)tGc>tAc	p.C1380Y		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1380	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1380Y(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTATTCTTGCAGTCTGCATG	0.423																																						uc001zwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3	GRCh37	CM077266	FBN1	M		c.(4138-4140)TGC>TAC		fibrillin 1 precursor							139.0	112.0	121.0					15																	48766523		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48766523C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4139G>A	15.37:g.48766523C>T	ENSP00000325527:p.Cys1380Tyr						p.C1380Y	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	34	4467	-		all_lung(180;0.00279)	1380			EGF-like 23; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.4139G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570304	0.65765	.	.	ENSG00000166147	ENST00000316623;ENST00000544030	D	0.99445	-5.91	5.05	5.05	0.67936	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.084915	0.85682	D	0.000000	D	0.99840	0.9927	H	0.99911	4.935	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.96273	0.9200	10	0.87932	D	0	.	18.1878	0.89797	0.0:1.0:0.0:0.0	.	1380	P35555	FBN1_HUMAN	Y	1380;270	ENSP00000325527:C1380Y	ENSP00000325527:C1380Y	C	-	2	0	FBN1	46553815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.597000	0.82733	2.637000	0.89404	0.650000	0.86243	TGC		PASS	0.423	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			57	33	57	33	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51750748	51750748	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr15:51750748T>A	ENST00000251076.5	-	35	8374	c.8087A>T	c.(8086-8088)cAg>cTg	p.Q2696L	DMXL2_ENST00000543779.2_Missense_Mutation_p.Q2697L|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.Q2060L|RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2696						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.Q2696L(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)		TATGTATGACTGACAGGCCAG	0.358																																						uc002abf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)	9						c.(8086-8088)CAG>CTG		Dmx-like 2							120.0	114.0	116.0					15																	51750748		2196	4292	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51750748T>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.8087A>T	15.37:g.51750748T>A	ENSP00000251076:p.Gln2696Leu					DMXL2_uc002abd.2_Missense_Mutation_p.Q788L|DMXL2_uc010ufy.1_Missense_Mutation_p.Q2697L|DMXL2_uc010bfa.2_Missense_Mutation_p.Q2060L	p.Q2696L	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	35	8312	-			2696					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.8087A>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	T	33	5.198722	0.94997	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.26810	1.84;1.84;1.71	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	M	0.76002	2.32	0.80722	D	1	D;P;D;D	0.69078	0.997;0.936;0.99;0.969	D;P;D;P	0.79784	0.993;0.885;0.966;0.824	T	0.52990	-0.8501	10	0.54805	T	0.06	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	2697;2060;2696;2697	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	L	2696;2697;2060;262	ENSP00000251076:Q2696L;ENSP00000441858:Q2697L;ENSP00000400855:Q2060L	ENSP00000251076:Q2696L	Q	-	2	0	DMXL2	49538040	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.552000	0.82192	2.367000	0.80283	0.528000	0.53228	CAG		PASS	0.358	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		63	36	63	36	---	---	---	---
UACA	55075	broad.mit.edu	37	15	70957052	70957052	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr15:70957052C>G	ENST00000322954.6	-	17	4247	c.4062G>C	c.(4060-4062)caG>caC	p.Q1354H	UACA_ENST00000560441.1_Missense_Mutation_p.Q1339H|UACA_ENST00000539319.1_Missense_Mutation_p.Q1245H|UACA_ENST00000379983.2_Missense_Mutation_p.Q1341H	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1354					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.Q1354H(1)|p.Q1341H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGTCAATCAGCTGGCTCTGCC	0.512																																						uc002asr.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(4060-4062)CAG>CAC		uveal autoantigen with coiled-coil domains and							132.0	111.0	118.0					15																	70957052		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70957052C>G	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.4062G>C	15.37:g.70957052C>G	ENSP00000314556:p.Gln1354His					UACA_uc010uke.1_Missense_Mutation_p.Q1245H|UACA_uc002asq.2_Missense_Mutation_p.Q1341H	p.Q1354H	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			17	4166	-			1354			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.4062G>C	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504730	0.64410	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.50277	0.75;0.75;0.75	6.07	-2.13	0.07144	Target SNARE coiled-coil domain (1);	0.097598	0.45606	N	0.000348	T	0.58595	0.2133	M	0.77103	2.36	0.45087	D	0.998107	D;D;D	0.63046	0.971;0.971;0.992	P;P;P	0.61940	0.896;0.789;0.878	T	0.60094	-0.7330	10	0.72032	D	0.01	-14.1145	8.0381	0.30504	0.0:0.5202:0.1015:0.3783	.	1245;1354;1341	F5H2B9;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	H	1354;1341;1245	ENSP00000314556:Q1354H;ENSP00000369319:Q1341H;ENSP00000438667:Q1245H	ENSP00000314556:Q1354H	Q	-	3	2	UACA	68744106	0.981000	0.34729	0.457000	0.27056	0.957000	0.61999	0.205000	0.17356	-0.243000	0.09653	-0.786000	0.03341	CAG		PASS	0.512	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			58	35	58	35	---	---	---	---
NR2E3	10002	broad.mit.edu	37	15	72106440	72106440	+	RNA	SNP	A	A	C	rs537337423	byFrequency	TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr15:72106440A>C	ENST00000398840.2	+	0	1272							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.H273P(1)|p.H360P(1)|p.H361P(1)		breast(1)|endometrium(1)|lung(1)	3						AAGGCCCACCACCCCAGCCAG	0.622																																						uc002ati.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1081-1083)CAC>CCC		photoreceptor-specific nuclear receptor isoform							30.0	38.0	35.0					15																	72106440		2168	4261	6429			10002				phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr15:72106440A>C		CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"""Nuclear hormone receptors"""	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72106440A>C						NR2E3_uc002ath.1_Missense_Mutation_p.H361P	p.H361P	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN			8	1272	+			361					B6ZGU0|Q9UHM4	Missense_Mutation	SNP	ENST00000398840.2	37	c.1082A>C		.	.	.	.	.	.	.	.	.	.	A	15.66	2.898343	0.52227	.	.	ENSG00000031544	ENST00000326995;ENST00000398840	.	.	.	5.09	5.09	0.68999	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.055647	0.64402	D	0.000001	T	0.72811	0.3507	.	.	.	0.34086	D	0.660166	D	0.64830	0.994	D	0.67103	0.949	T	0.81607	-0.0856	7	0.87932	D	0	.	11.4165	0.49956	0.8491:0.1509:0.0:0.0	.	361	Q9Y5X4	NR2E3_HUMAN	P	273;361	.	ENSP00000317199:H273P	H	+	2	0	NR2E3	69893494	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.832000	0.62759	1.910000	0.55303	0.379000	0.24179	CAC		PASS	0.622	NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249		3	15	3	15	---	---	---	---
CYP11A1	1583	broad.mit.edu	37	15	74632057	74632057	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr15:74632057G>A	ENST00000268053.6	-	6	1182	c.1028C>T	c.(1027-1029)gCa>gTa	p.A343V	CYP11A1_ENST00000419019.2_Missense_Mutation_p.A185V|CYP11A1_ENST00000358632.4_Missense_Mutation_p.A185V	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	343					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.A343V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CAGGTTGCGTGCCATCTCATA	0.627																																					Esophageal Squamous(87;818 1337 4093 9268 37314)	uc002axt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1027-1029)GCA>GTA		cytochrome P450, family 11, subfamily A,	Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)						112.0	91.0	98.0					15																	74632057		2197	4296	6493	SO:0001583	missense	1583				C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	g.chr15:74632057G>A	AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1028C>T	15.37:g.74632057G>A	ENSP00000268053:p.Ala343Val					CYP11A1_uc002axs.2_Missense_Mutation_p.A185V|CYP11A1_uc010bjm.1_Missense_Mutation_p.A185V|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Intron|CYP11A1_uc010bjp.1_RNA|CYP11A1_uc010ulj.1_Missense_Mutation_p.A123V	p.A343V	NM_000781	NP_000772	P05108	CP11A_HUMAN			6	1183	-			343					A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	c.1028C>T	CCDS32291.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.401283	0.62288	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.72051	-0.62;-0.62;-0.62	4.46	-1.72	0.08107	.	0.280907	0.39475	N	0.001349	T	0.78729	0.4329	L	0.53780	1.695	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.79162	-0.1917	10	0.87932	D	0	-7.7321	17.7414	0.88408	0.0:0.6262:0.3738:0.0	.	343	P05108	CP11A_HUMAN	V	343;185;185;108	ENSP00000268053:A343V;ENSP00000351455:A185V;ENSP00000405488:A185V	ENSP00000268053:A343V	A	-	2	0	CYP11A1	72419110	1.000000	0.71417	0.026000	0.17262	0.598000	0.36846	3.147000	0.50639	-0.539000	0.06273	-0.326000	0.08463	GCA		PASS	0.627	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			42	28	42	28	---	---	---	---
ZSCAN2	54993	broad.mit.edu	37	15	85164140	85164140	+	Silent	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr15:85164140C>A	ENST00000448803.2	+	3	1006	c.714C>A	c.(712-714)atC>atA	p.I238I	ZSCAN2_ENST00000546148.1_Silent_p.I238I|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Silent_p.I237I|ZSCAN2_ENST00000358472.3_Silent_p.I88I	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	238					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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.I238I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCCACCTCATCACACACGAGA	0.493																																						uc002bkr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(712-714)ATC>ATA		zinc finger protein 29 isoform 1							93.0	97.0	96.0					15																	85164140		2203	4299	6502	SO:0001819	synonymous_variant	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164140C>A	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.714C>A	15.37:g.85164140C>A						ZSCAN2_uc010bmz.1_Silent_p.I236I|ZSCAN2_uc010bna.2_Silent_p.I88I|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	p.I238I	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	940	+			238			C2H2-type 1.		A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	c.714C>A	CCDS10329.2																																																																																				PASS	0.493	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		5	319	5	319	---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12571616	12571616	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr16:12571616G>T	ENST00000566228.1	+	19	2147	c.2078G>T	c.(2077-2079)cGc>cTc	p.R693L	SNX29_ENST00000306030.3_Missense_Mutation_p.R308L|SNX29_ENST00000323433.4_Missense_Mutation_p.R308L	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	693	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.R308L(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AATATTTATCGCCGGTATACA	0.403																																						uc002dby.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(922-924)CGC>CTC		sorting nexin 29							70.0	67.0	68.0					16																	12571616		1872	4102	5974	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12571616G>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.2078G>T	16.37:g.12571616G>T	ENSP00000456480:p.Arg693Leu						p.R308L	NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN			12	979	+			308			PX.		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.923G>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628264	0.87560	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	T;T	0.66099	-0.19;-0.19	5.73	5.73	0.89815	.	0.066079	0.64402	D	0.000014	D	0.86104	0.5853	H	0.96208	3.785	0.37812	D	0.928098	.	.	.	.	.	.	D	0.91292	0.5060	8	0.87932	D	0	-21.6809	17.3886	0.87424	0.0:0.0:1.0:0.0	.	.	.	.	L	308	ENSP00000306940:R308L;ENSP00000322226:R308L	ENSP00000306940:R308L	R	+	2	0	SNX29	12479117	1.000000	0.71417	0.636000	0.29352	0.710000	0.40934	9.236000	0.95360	2.699000	0.92147	0.655000	0.94253	CGC		PASS	0.403	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			25	83	25	83	---	---	---	---
C16orf62	57020	broad.mit.edu	37	16	19659206	19659206	+	Splice_Site	SNP	T	T	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr16:19659206T>G	ENST00000251143.5	+	24	2040		c.e24+2		C16orf62_ENST00000544275.1_Splice_Site|C16orf62_ENST00000417362.2_Splice_Site|C16orf62_ENST00000438132.3_Splice_Site|C16orf62_ENST00000542263.1_Splice_Site|C16orf62_ENST00000448695.1_Splice_Site|C16orf62_ENST00000543152.1_Splice_Site			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral component of membrane (GO:0016021)		p.?(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTGATTCATGTAAGTATTTTC	0.343																																						uc002dgn.1																			2	Unknown(2)		lung(2)	ovary(1)	1						c.e24+2		hypothetical protein LOC57020							185.0	163.0	170.0					16																	19659206		2197	4300	6497	SO:0001630	splice_region_variant	57020					integral to membrane		g.chr16:19659206T>G		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2028+2T>G	16.37:g.19659206T>G						C16orf62_uc002dgo.1_Splice_Site_p.H609_splice|C16orf62_uc002dgp.1_Splice_Site_p.H425_splice	p.H676_splice	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN			24	2040	+								A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Splice_Site	SNP	ENST00000251143.5	37	c.2028_splice		.	.	.	.	.	.	.	.	.	.	T	16.89	3.248295	0.59103	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0769	0.64895	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C16orf62	19566707	1.000000	0.71417	0.996000	0.52242	0.693000	0.40251	7.210000	0.77924	2.208000	0.71279	0.533000	0.62120	.		PASS	0.343	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	Intron	159	255	159	255	---	---	---	---
PDILT	204474	broad.mit.edu	37	16	20387453	20387453	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr16:20387453G>T	ENST00000302451.4	-	4	728	c.480C>A	c.(478-480)aaC>aaA	p.N160K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	160					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.N160K(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						GCTCGCTGCTGTTGAACAAAA	0.488																																						uc002dhc.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(478-480)AAC>AAA		protein disulfide isomerase-like, testis							139.0	105.0	116.0					16																	20387453		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20387453G>T		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.480C>A	16.37:g.20387453G>T	ENSP00000305465:p.Asn160Lys						p.N160K	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			4	703	-			160					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.480C>A	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	G	1.810	-0.474968	0.04414	.	.	ENSG00000169340	ENST00000302451	T	0.21361	2.01	4.65	1.48	0.22813	Thioredoxin-like fold (2);	0.689399	0.14850	N	0.294774	T	0.10465	0.0256	L	0.43152	1.355	0.09310	N	1	P	0.35656	0.514	B	0.27170	0.077	T	0.22382	-1.0218	10	0.02654	T	1	.	4.3717	0.11251	0.248:0.1982:0.5538:0.0	.	160	Q8N807	PDILT_HUMAN	K	160	ENSP00000305465:N160K	ENSP00000305465:N160K	N	-	3	2	PDILT	20294954	0.017000	0.18338	0.190000	0.23270	0.287000	0.27160	0.429000	0.21412	0.581000	0.29539	0.650000	0.86243	AAC		PASS	0.488	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		61	124	61	124	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21065766	21065766	+	Silent	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr16:21065766C>A	ENST00000261383.3	-	28	4013	c.4014G>T	c.(4012-4014)ggG>ggT	p.G1338G	DNAH3_ENST00000415178.1_Silent_p.G1338G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1338	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.G1338G(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCGTGAGGGCCCCGAGAGTGA	0.547																																						uc010vbe.1																			2	Substitution - coding silent(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(4012-4014)GGG>GGT		dynein, axonemal, heavy chain 3							78.0	65.0	69.0					16																	21065766		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21065766C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4014G>T	16.37:g.21065766C>A							p.G1338G	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	28	4014	-			1338			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.4014G>T	CCDS10594.1																																																																																				PASS	0.547	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		26	53	26	53	---	---	---	---
POLR3E	55718	broad.mit.edu	37	16	22314317	22314317	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr16:22314317G>T	ENST00000299853.5	+	2	195	c.28G>T	c.(28-30)Gta>Tta	p.V10L	POLR3E_ENST00000564209.1_Missense_Mutation_p.V10L|POLR3E_ENST00000359210.4_Missense_Mutation_p.V10L|POLR3E_ENST00000418581.2_Missense_Mutation_p.V10L|POLR3E_ENST00000564256.1_3'UTR	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	10					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.V10L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TGACCCAGTTGTACAGGAGGT	0.587																																						uc002dkk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(28-30)GTA>TTA		RNA polymerase III polypeptide E							160.0	143.0	149.0					16																	22314317		2197	4300	6497	SO:0001583	missense	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22314317G>T	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.28G>T	16.37:g.22314317G>T	ENSP00000299853:p.Val10Leu					POLR3E_uc002dkj.1_Missense_Mutation_p.V10L|POLR3E_uc002dkm.2_Intron|POLR3E_uc010vbr.1_Missense_Mutation_p.V10L|POLR3E_uc002dkl.2_Missense_Mutation_p.V10L|POLR3E_uc010vbs.1_Missense_Mutation_p.V10L|POLR3E_uc010vbt.1_5'UTR	p.V10L	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	2	184	+			10					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	ENST00000299853.5	37	c.28G>T	CCDS10605.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.364860	0.41902	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.60040	0.22;0.22;0.93	5.59	0.272	0.15645	.	0.157569	0.53938	D	0.000045	T	0.41971	0.1182	L	0.33710	1.025	0.31966	N	0.607784	B;B;B;B;B	0.19200	0.034;0.002;0.002;0.002;0.018	B;B;B;B;B	0.23018	0.043;0.015;0.009;0.012;0.014	T	0.43972	-0.9358	10	0.51188	T	0.08	-3.2597	8.3787	0.32457	0.5468:0.0:0.4532:0.0	.	10;10;10;10;10	B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;RPC5_HUMAN;.	L	10	ENSP00000299853:V10L;ENSP00000352140:V10L;ENSP00000399254:V10L	ENSP00000299853:V10L	V	+	1	0	POLR3E	22221818	0.962000	0.33011	0.715000	0.30552	0.906000	0.53458	1.559000	0.36320	0.304000	0.22809	-0.254000	0.11334	GTA		PASS	0.587	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		127	170	127	170	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30734316	30734316	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr16:30734316G>C	ENST00000262518.4	+	24	4310	c.3925G>C	c.(3925-3927)Gtg>Ctg	p.V1309L	SRCAP_ENST00000344771.4_Missense_Mutation_p.V1151L|SRCAP_ENST00000395059.2_Missense_Mutation_p.V1247L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1309	Pro-rich.				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.V1309L(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)			TACAGGCGTGGTGAAGATTGT	0.527																																						uc002dze.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3925-3927)GTG>CTG		Snf2-related CBP activator protein							96.0	95.0	95.0					16																	30734316		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.chr16:30734316G>C	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.3925G>C	16.37:g.30734316G>C	ENSP00000262518:p.Val1309Leu					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.V1104L|SRCAP_uc010bzz.1_Missense_Mutation_p.V879L	p.V1309L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		24	4310	+			1309			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3925G>C	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313077	0.40895	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94966	-3.57;-2.75;-2.76	5.83	5.83	0.93111	.	0.000000	0.50627	D	0.000116	D	0.94532	0.8239	N	0.24115	0.695	0.33634	D	0.606357	D;D;D	0.67145	0.996;0.996;0.994	D;D;D	0.77557	0.99;0.99;0.978	D	0.94244	0.7487	10	0.25106	T	0.35	-12.7674	17.0352	0.86473	0.0:0.0:1.0:0.0	.	1151;1247;1309	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	L	1309;1247;1151	ENSP00000262518:V1309L;ENSP00000378499:V1247L;ENSP00000343042:V1151L	ENSP00000262518:V1309L	V	+	1	0	SRCAP	30641817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.399000	0.73248	2.769000	0.95229	0.655000	0.94253	GTG		PASS	0.527	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		22	174	22	174	---	---	---	---
PRSS36	146547	broad.mit.edu	37	16	31160456	31160456	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr16:31160456G>C	ENST00000268281.4	-	4	268	c.210C>G	c.(208-210)caC>caG	p.H70Q	PRSS36_ENST00000418068.2_Missense_Mutation_p.H70Q|PRSS36_ENST00000569305.1_Missense_Mutation_p.H70Q	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	70	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)	p.H70Q(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCCCGCAGATGTGGCCACCTC	0.682																																						uc002ebd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(208-210)CAC>CAG		protease, serine, 36 precursor							12.0	13.0	13.0					16																	31160456		2183	4280	6463	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31160456G>C	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.210C>G	16.37:g.31160456G>C	ENSP00000268281:p.His70Gln					PRSS36_uc010vff.1_5'UTR|PRSS36_uc010vfg.1_Missense_Mutation_p.H70Q|PRSS36_uc010vfh.1_Missense_Mutation_p.H70Q	p.H70Q	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			4	269	-			70			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.210C>G	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.968403	0.74131	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.82893	-1.66;-1.66	5.27	4.32	0.51571	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.89305	0.6677	M	0.72894	2.215	0.32455	N	0.544957	D;P;P	0.76494	0.999;0.692;0.507	D;B;B	0.75020	0.985;0.276;0.29	D	0.90836	0.4720	9	0.87932	D	0	.	11.4437	0.50110	0.0881:0.0:0.9119:0.0	.	70;70;70	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	Q	70	ENSP00000268281:H70Q;ENSP00000407160:H70Q	ENSP00000268281:H70Q	H	-	3	2	PRSS36	31067957	0.971000	0.33674	0.987000	0.45799	0.916000	0.54674	1.646000	0.37249	1.211000	0.43351	0.552000	0.68991	CAC		PASS	0.682	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		4	3	4	3	---	---	---	---
CYLD	1540	broad.mit.edu	37	16	50828243	50828243	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr16:50828243G>T	ENST00000427738.3	+	17	2795	c.2590G>T	c.(2590-2592)Gtt>Ttt	p.V864F	CYLD_ENST00000566206.1_Missense_Mutation_p.V861F|CYLD_ENST00000311559.9_Missense_Mutation_p.V864F|CYLD_ENST00000540145.1_Missense_Mutation_p.V864F|CYLD_ENST00000569418.1_Missense_Mutation_p.V861F|CYLD_ENST00000568704.2_Missense_Mutation_p.V679F|CYLD_ENST00000398568.2_Missense_Mutation_p.V861F|CYLD_ENST00000564326.1_Missense_Mutation_p.V861F|RP11-327F22.4_ENST00000575917.1_RNA|RP11-327F22.4_ENST00000564510.1_RNA			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	864	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.V864F(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GTTATTTGCTGTTCTCTGCAT	0.478			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Substitution - Missense(1)		lung(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(2590-2592)GTT>TTT		ubiquitin carboxyl-terminal hydrolase CYLD							162.0	163.0	163.0					16																	50828243		1945	4137	6082	SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50828243G>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2590G>T	16.37:g.50828243G>T	ENSP00000392025:p.Val864Phe					CYLD_uc010cbs.1_Missense_Mutation_p.V861F|CYLD_uc002egq.1_Missense_Mutation_p.V861F|CYLD_uc002egr.1_Missense_Mutation_p.V861F	p.V864F	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			18	3005	+		all_cancers(37;0.0156)	864					O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.2590G>T	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110397	0.94292	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.41400	1.0;1.0;1.0	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.68476	0.3005	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.70385	-0.4886	10	0.87932	D	0	-24.72	20.1615	0.98135	0.0:0.0:1.0:0.0	.	861;861	A8KAB0;Q9NQC7-2	.;.	F	864;864;861;861	ENSP00000445447:V864F;ENSP00000308928:V864F;ENSP00000381574:V861F	ENSP00000308928:V864F	V	+	1	0	CYLD	49385744	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	9.365000	0.97139	2.835000	0.97688	0.650000	0.86243	GTT		PASS	0.478	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			146	256	146	256	---	---	---	---
RSPRY1	89970	broad.mit.edu	37	16	57243027	57243027	+	Silent	SNP	T	T	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr16:57243027T>G	ENST00000537866.1	+	4	1317	c.444T>G	c.(442-444)gtT>gtG	p.V148V	RSPRY1_ENST00000394420.4_Silent_p.V148V			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	148						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)	p.V148V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TAATTAGAGTTATTCCACTGG	0.333																																						uc002elb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(442-444)GTT>GTG		ring finger and SPRY domain containing 1							206.0	197.0	200.0					16																	57243027		2198	4299	6497	SO:0001819	synonymous_variant	89970					extracellular region	zinc ion binding	g.chr16:57243027T>G	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.444T>G	16.37:g.57243027T>G						RSPRY1_uc002elc.2_Silent_p.V148V|RSPRY1_uc002eld.2_Silent_p.V148V	p.V148V	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN			4	722	+			148					Q6UX21|Q8ND53	Silent	SNP	ENST00000537866.1	37	c.444T>G	CCDS10775.1																																																																																				PASS	0.333	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1	NM_133368		6	515	6	515	---	---	---	---
BCAR1	9564	broad.mit.edu	37	16	75268934	75268934	+	Silent	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr16:75268934C>G	ENST00000162330.5	-	5	1989	c.1863G>C	c.(1861-1863)ctG>ctC	p.L621L	BCAR1_ENST00000535626.2_Silent_p.L473L|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Silent_p.L639L|BCAR1_ENST00000538440.2_Silent_p.L621L|BCAR1_ENST00000546196.1_Silent_p.L592L|BCAR1_ENST00000393422.2_Silent_p.L639L|BCAR1_ENST00000542031.2_Silent_p.L619L|BCAR1_ENST00000393420.6_Silent_p.L639L|BCAR1_ENST00000418647.3_Silent_p.L667L	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	621					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.L667L(1)|p.L621L(1)|p.L639L(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTTGGGGTGCAGGGTGCCAC	0.652																																						uc002fdv.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(5)|breast(2)|prostate(1)	8						c.(1861-1863)CTG>CTC		breast cancer anti-estrogen resistance 1							55.0	55.0	55.0					16																	75268934		2198	4299	6497	SO:0001819	synonymous_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75268934C>G	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.1863G>C	16.37:g.75268934C>G						BCAR1_uc002fdt.2_Silent_p.L74L|BCAR1_uc002fdu.2_Silent_p.L411L|BCAR1_uc010cgu.2_Silent_p.L610L|BCAR1_uc010vna.1_Silent_p.L619L|BCAR1_uc010vnb.1_Silent_p.L667L|BCAR1_uc002fdw.2_Silent_p.L621L|BCAR1_uc010vnc.1_Silent_p.L473L|BCAR1_uc010vnd.1_Silent_p.L639L|BCAR1_uc002fdx.2_Silent_p.L639L	p.L621L	NM_014567	NP_055382	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	5	1986	-			621					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	37	c.1863G>C	CCDS10915.1																																																																																				PASS	0.652	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		39	73	39	73	---	---	---	---
KARS	3735	broad.mit.edu	37	16	75669923	75669923	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr16:75669923C>A	ENST00000302445.3	-	5	595	c.556G>T	c.(556-558)Ggg>Tgg	p.G186W	KARS_ENST00000319410.5_Missense_Mutation_p.G214W|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	186					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)	p.G186W(1)|p.G214W(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CCAGGATTCCCCTGAACTCCA	0.383																																						uc002feq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(556-558)GGG>TGG		lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)						103.0	80.0	88.0					16																	75669923		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75669923C>A	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.556G>T	16.37:g.75669923C>A	ENSP00000303043:p.Gly186Trp					KARS_uc002fer.2_Missense_Mutation_p.G214W|KARS_uc002fes.2_Missense_Mutation_p.G30W|KARS_uc010cgz.2_Missense_Mutation_p.G30W	p.G186W	NM_005548	NP_005539	Q15046	SYK_HUMAN			5	604	-			186					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.556G>T	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977497	0.92982	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	D;D	0.93659	-3.26;-3.26	6.17	6.17	0.99709	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	H	0.99931	4.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99010	1.0814	10	0.87932	D	0	-16.6173	19.4575	0.94900	0.0:1.0:0.0:0.0	.	214;186	Q15046-2;Q15046	.;SYK_HUMAN	W	214;186	ENSP00000325448:G214W;ENSP00000303043:G186W	ENSP00000303043:G186W	G	-	1	0	KARS	74227424	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.603000	0.82811	2.941000	0.99782	0.655000	0.94253	GGG		PASS	0.383	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		38	92	38	92	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	A	rs121912655|rs397516437		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr17:7577556C>A	ENST00000269305.4	-	7	914	c.725G>T	c.(724-726)tGc>tTc	p.C242F	TP53_ENST00000455263.2_Missense_Mutation_p.C242F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C242F|TP53_ENST00000413465.2_Missense_Mutation_p.C242F|TP53_ENST00000445888.2_Missense_Mutation_p.C242F|TP53_ENST00000359597.4_Missense_Mutation_p.C242F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCGCCCATGCAGGAACTGTT	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		175	Substitution - Missense(150)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(5)|Deletion - Frameshift(4)|Complex - deletion inframe(1)	p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)	lung(35)|upper_aerodigestive_tract(22)|liver(16)|oesophagus(15)|large_intestine(13)|breast(12)|central_nervous_system(11)|ovary(11)|urinary_tract(9)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|bone(5)|endometrium(3)|soft_tissue(1)|eye(1)|thymus(1)|kidney(1)|pancreas(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM910618	TP53	M	rs121912655	c.(724-726)TGC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							140.0	107.0	119.0					17																	7577556		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577556C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.725G>T	17.37:g.7577556C>A	ENSP00000269305:p.Cys242Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.C242F|TP53_uc002gih.2_Missense_Mutation_p.C242F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110F|TP53_uc010cng.1_Missense_Mutation_p.C110F|TP53_uc002gii.1_Missense_Mutation_p.C110F|TP53_uc010cnh.1_Missense_Mutation_p.C242F|TP53_uc010cni.1_Missense_Mutation_p.C242F|TP53_uc002gij.2_Missense_Mutation_p.C242F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149F|TP53_uc002gio.2_Missense_Mutation_p.C110F	p.C242F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	919	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	242		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).	Zinc.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.725G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366336	0.82463	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99915	-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99930	0.9968	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95727	0.8771	10	0.87932	D	0	-27.558	15.3618	0.74483	0.0:1.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242F;ENSP00000352610:C242F;ENSP00000269305:C242F;ENSP00000398846:C242F;ENSP00000391127:C242F;ENSP00000391478:C242F;ENSP00000425104:C110F;ENSP00000423862:C149F	ENSP00000269305:C242F	C	-	2	0	TP53	7518281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	TGC		PASS	0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		53	55	53	55	---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17700660	17700660	+	Silent	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr17:17700660G>A	ENST00000353383.1	+	3	4867	c.4398G>A	c.(4396-4398)cgG>cgA	p.R1466R	RAI1_ENST00000261641.6_Silent_p.R1466R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1466					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.R1466R(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGGAGAAGCGGCCCTATCTTG	0.667																																						uc002grm.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(4396-4398)CGG>CGA		retinoic acid induced 1							13.0	16.0	15.0					17																	17700660		2196	4286	6482	SO:0001819	synonymous_variant	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17700660G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4398G>A	17.37:g.17700660G>A						RAI1_uc002grn.1_Silent_p.R1466R	p.R1466R	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4867	+			1466					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	c.4398G>A	CCDS11188.1																																																																																				PASS	0.667	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		18	13	18	13	---	---	---	---
TBC1D29	26083	broad.mit.edu	37	17	28887175	28887175	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr17:28887175G>T	ENST00000580161.1	+	3	2550	c.53G>T	c.(52-54)tGg>tTg	p.W18L	TBC1D29_ENST00000584297.1_Missense_Mutation_p.W18L|RP11-218M11.6_ENST00000582125.1_RNA|TBC1D29_ENST00000579181.1_Missense_Mutation_p.W18L			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	18	Rab-GAP TBC; truncated. {ECO:0000255|PROSITE-ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.W18L(1)		breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				TCATTCAGCTGGCTTCTCCGG	0.612																																						uc002hfh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(52-54)TGG>TTG		TBC1 domain family, member 29							51.0	47.0	49.0					17																	28887175		2203	4300	6503	SO:0001583	missense	26083					intracellular	Rab GTPase activator activity	g.chr17:28887175G>T	BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.53G>T	17.37:g.28887175G>T	ENSP00000462799:p.Trp18Leu					TBC1D29_uc002hfi.2_RNA|uc002hfj.1_5'Flank	p.W18L	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN			2	202	+		Myeloproliferative disorder(56;0.0255)	18			Rab-GAP TBC; truncated.			Missense_Mutation	SNP	ENST00000580161.1	37	c.53G>T	CCDS32606.1	.	.	.	.	.	.	.	.	.	.	.	8.911	0.958799	0.18507	.	.	ENSG00000197689	ENST00000329040;ENST00000378698	.	.	.	0.15	0.15	0.14883	Rab-GAP/TBC domain (2);	.	.	.	.	T	0.52451	0.1735	M	0.70842	2.15	0.09310	N	1	P	0.51449	0.945	P	0.56648	0.803	T	0.42599	-0.9442	7	0.87932	D	0	.	.	.	.	.	18	Q9UFV1	TBC29_HUMAN	L	18	.	ENSP00000330052:W18L	W	+	2	0	TBC1D29	25911301	0.008000	0.16893	0.008000	0.14137	0.008000	0.06430	0.714000	0.25808	0.194000	0.20326	0.197000	0.17608	TGG		PASS	0.612	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443632.1	NM_015594		8	18	8	18	---	---	---	---
ATAD5	79915	broad.mit.edu	37	17	29221655	29221655	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr17:29221655C>A	ENST00000321990.4	+	22	5749	c.5371C>A	c.(5371-5373)Caa>Aaa	p.Q1791K	TEFM_ENST00000579183.1_5'Flank	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1791					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.Q1791K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GGGTAATAGACAAGCTAGTAT	0.338																																						uc002hfs.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(5371-5373)CAA>AAA		ATPase family, AAA domain containing 5							87.0	84.0	85.0					17																	29221655		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29221655C>A		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.5371C>A	17.37:g.29221655C>A	ENSP00000313171:p.Gln1791Lys						p.Q1791K	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			22	5717	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1791					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.5371C>A	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612549	0.66672	.	.	ENSG00000176208	ENST00000321990	T	0.08807	3.05	5.59	4.61	0.57282	.	0.434509	0.26804	N	0.022412	T	0.27489	0.0675	M	0.66939	2.045	0.41676	D	0.989268	D	0.69078	0.997	D	0.73380	0.98	T	0.02208	-1.1195	10	0.51188	T	0.08	.	16.5381	0.84377	0.0:0.8692:0.1307:0.0	.	1791	Q96QE3	ATAD5_HUMAN	K	1791	ENSP00000313171:Q1791K	ENSP00000313171:Q1791K	Q	+	1	0	ATAD5	26245781	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.700000	0.61803	1.347000	0.45714	0.585000	0.79938	CAA		PASS	0.338	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		4	94	4	94	---	---	---	---
KRT27	342574	broad.mit.edu	37	17	38938435	38938435	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr17:38938435G>T	ENST00000301656.3	-	1	351	c.311C>A	c.(310-312)gCc>gAc	p.A104D		NM_181537.3	NP_853515.2			keratin 27									p.A104D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CTCCTCTAGGGCTCGAACATT	0.542																																						uc002hvg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(310-312)GCC>GAC		keratin 27							158.0	141.0	147.0					17																	38938435		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38938435G>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.311C>A	17.37:g.38938435G>T	ENSP00000301656:p.Ala104Asp						p.A104D	NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN			1	352	-		Breast(137;0.000812)	104			Rod.|Coil 1A.			Missense_Mutation	SNP	ENST00000301656.3	37	c.311C>A	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805043	0.70682	.	.	ENSG00000171446	ENST00000301656	D	0.89552	-2.53	5.66	5.66	0.87406	Filament (1);	0.000000	0.64402	D	0.000004	D	0.92916	0.7746	M	0.80508	2.5	0.20307	N	0.999911	P	0.40731	0.728	P	0.51742	0.678	D	0.88088	0.2811	10	0.66056	D	0.02	.	15.5002	0.75691	0.0:0.0:0.8613:0.1387	.	104	Q7Z3Y8	K1C27_HUMAN	D	104	ENSP00000301656:A104D	ENSP00000301656:A104D	A	-	2	0	KRT27	36191961	0.000000	0.05858	0.285000	0.24819	0.915000	0.54546	0.792000	0.26929	2.815000	0.96918	0.650000	0.86243	GCC		PASS	0.542	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		8	242	8	242	---	---	---	---
STAT3	6774	broad.mit.edu	37	17	40474352	40474352	+	Missense_Mutation	SNP	G	G	T	rs373256669		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr17:40474352G>T	ENST00000264657.5	-	21	2361	c.2049C>A	c.(2047-2049)ttC>ttA	p.F683L	STAT3_ENST00000588969.1_Missense_Mutation_p.F683L|STAT3_ENST00000389272.3_Missense_Mutation_p.F585L|STAT3_ENST00000404395.3_Missense_Mutation_p.F683L|STAT3_ENST00000585517.1_Missense_Mutation_p.F683L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	683					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.F683L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AATACTTTCCGAATGCCTCCT	0.458									Hyperimmunoglobulin E Recurrent Infection Syndrome																													uc002hzl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(2047-2049)TTC>TTA		signal transducer and activator of transcription							143.0	131.0	135.0					17																	40474352		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40474352G>T	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.2049C>A	17.37:g.40474352G>T	ENSP00000264657:p.Phe683Leu					STAT3_uc002hzk.1_Missense_Mutation_p.F683L|STAT3_uc002hzm.1_Missense_Mutation_p.F683L|STAT3_uc010wgh.1_Missense_Mutation_p.F585L|STAT3_uc002hzn.1_Missense_Mutation_p.F683L	p.F683L	NM_139276	NP_644805	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	21	2289	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	683					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.2049C>A	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744286	0.69418	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.97404	-4.37;-4.37;-4.37	4.47	-3.47	0.04753	SH2 motif (1);	0.000000	0.85682	D	0.000000	D	0.97294	0.9115	M	0.75085	2.285	0.54753	D	0.99998	D;D;D	0.58970	0.984;0.972;0.972	D;P;P	0.66084	0.941;0.873;0.873	D	0.95653	0.8708	10	0.87932	D	0	-19.9021	11.2746	0.49159	0.6762:0.0:0.3238:0.0	.	683;683;683	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	L	683;585;683	ENSP00000264657:F683L;ENSP00000373923:F585L;ENSP00000384943:F683L	ENSP00000264657:F683L	F	-	3	2	STAT3	37727878	0.168000	0.22989	0.692000	0.30179	0.938000	0.57974	-0.195000	0.09546	-0.459000	0.07013	0.655000	0.94253	TTC		PASS	0.458	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		4	222	4	222	---	---	---	---
NPEPPS	9520	broad.mit.edu	37	17	45668158	45668158	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr17:45668158C>T	ENST00000322157.4	+	10	1408	c.1171C>T	c.(1171-1173)Cca>Tca	p.P391S	NPEPPS_ENST00000530173.1_Missense_Mutation_p.P387S|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.P311S	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	391					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P391S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CCACTGCTTCCCAGAGTATGA	0.413																																						uc002ilr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1171-1173)CCA>TCA		aminopeptidase puromycin sensitive							63.0	53.0	56.0					17																	45668158		1791	4040	5831	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45668158C>T	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1171C>T	17.37:g.45668158C>T	ENSP00000320324:p.Pro391Ser					NPEPPS_uc010wkt.1_Missense_Mutation_p.P387S|NPEPPS_uc010wku.1_Missense_Mutation_p.P355S|NPEPPS_uc010wkv.1_5'UTR	p.P391S	NM_006310	NP_006301	P55786	PSA_HUMAN			10	1394	+			391					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.1171C>T	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	C	30	5.049939	0.93740	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45	5.75	5.75	0.90469	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.99;0.998;0.998	T	0.45041	-0.9288	10	0.87932	D	0	.	19.9233	0.97095	0.0:1.0:0.0:0.0	.	391;387;391	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	S	387;391;378;311;74;88	ENSP00000433287:P387S;ENSP00000320324:P391S;ENSP00000442461:P311S;ENSP00000435639:P74S;ENSP00000435966:P88S	ENSP00000320324:P391S	P	+	1	0	NPEPPS	43023157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.700000	0.84556	2.704000	0.92352	0.591000	0.81541	CCA		PASS	0.413	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		31	290	31	290	---	---	---	---
SP2	6668	broad.mit.edu	37	17	45994334	45994334	+	Missense_Mutation	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr17:45994334G>C	ENST00000376741.4	+	3	1034	c.897G>C	c.(895-897)caG>caC	p.Q299H	AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	299					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)	p.Q299H(1)		endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CTGTGGTCCAGCAGGTCCAGG	0.647																																						uc002imk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(895-897)CAG>CAC		Sp2 transcription factor							46.0	51.0	49.0					17																	45994334		2203	4300	6503	SO:0001583	missense	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45994334G>C		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.897G>C	17.37:g.45994334G>C	ENSP00000365931:p.Gln299His					SP2_uc002iml.2_Missense_Mutation_p.Q292H|uc002imm.2_Intron	p.Q299H	NM_003110	NP_003101	Q02086	SP2_HUMAN			3	1034	+			299					A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	c.897G>C	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444981	0.63178	.	.	ENSG00000167182	ENST00000376741	T	0.15256	2.44	5.39	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.06006	-1.0851	10	0.46703	T	0.11	.	8.1973	0.31405	0.1749:0.0:0.8251:0.0	.	299	Q02086	SP2_HUMAN	H	299	ENSP00000365931:Q299H	ENSP00000365931:Q299H	Q	+	3	2	SP2	43349333	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.079000	0.57613	1.511000	0.48818	0.467000	0.42956	CAG		PASS	0.647	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		9	119	9	119	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67282383	67282383	+	Nonsense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr17:67282383C>T	ENST00000392676.3	-	16	2175	c.2111G>A	c.(2110-2112)tGg>tAg	p.W704*	ABCA5_ENST00000392677.2_Nonsense_Mutation_p.W704*|ABCA5_ENST00000588877.1_Nonsense_Mutation_p.W704*			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	704	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.W704*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GCCGATCCCCCATTTACTTTT	0.338																																						uc002jif.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2110-2112)TGG>TAG		ATP-binding cassette, sub-family A , member 5							86.0	81.0	82.0					17																	67282383		2203	4300	6503	SO:0001587	stop_gained	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67282383C>T	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2111G>A	17.37:g.67282383C>T	ENSP00000376443:p.Trp704*					ABCA5_uc002jic.2_5'UTR|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Nonsense_Mutation_p.W704*|ABCA5_uc002jih.2_Nonsense_Mutation_p.W704*|ABCA5_uc010dfe.2_Nonsense_Mutation_p.W704*	p.W704*	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			15	3329	-	Breast(10;3.72e-11)		704			ABC transporter 1.		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Nonsense_Mutation	SNP	ENST00000392676.3	37	c.2111G>A	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	50	16.494572	0.99864	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	.	.	.	5.29	5.29	0.74685	.	0.260610	0.27891	N	0.017432	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5255	0.90971	0.0:1.0:0.0:0.0	.	.	.	.	X	704	.	.	W	-	2	0	ABCA5	64793978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.198000	0.77823	2.478000	0.83669	0.655000	0.94253	TGG		PASS	0.338	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		33	27	33	27	---	---	---	---
TMEM104	54868	broad.mit.edu	37	17	72832362	72832362	+	Missense_Mutation	SNP	G	G	A	rs201073954		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr17:72832362G>A	ENST00000335464.5	+	10	1189	c.1027G>A	c.(1027-1029)Gcg>Acg	p.A343T	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.A343T	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	343						integral component of membrane (GO:0016021)		p.A343T(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CCTCAACTTCGCGCGCTGTGA	0.612													g|||	1	0.000199681	0.0	0.0	5008	,	,		17888	0.0		0.001	False		,,,				2504	0.0					uc002jls.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1027-1029)GCG>ACG		transmembrane protein 104			THR/ALA	2,4404	4.2+/-10.8	0,2,2201	290.0	226.0	248.0		1027	3.2	0.2	17		248	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMEM104	NM_017728.3	58	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	343/497	72832362	4,13002	2203	4300	6503	SO:0001583	missense	54868					integral to membrane		g.chr17:72832362G>A	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1027G>A	17.37:g.72832362G>A	ENSP00000334849:p.Ala343Thr					TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.A343T	p.A343T	NM_017728	NP_060198	Q8NE00	TM104_HUMAN			10	1189	+	all_lung(278;0.23)		343			Extracellular (Potential).		Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	c.1027G>A	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	g	10.11	1.260520	0.23051	4.54E-4	2.33E-4	ENSG00000109066	ENST00000335464	T	0.02236	4.38	5.26	3.23	0.37069	.	0.139248	0.64402	D	0.000004	T	0.00906	0.0030	N	0.02011	-0.69	0.27377	N	0.955537	B	0.09022	0.002	B	0.04013	0.001	T	0.47699	-0.9097	10	0.10902	T	0.67	-30.5252	6.6658	0.23039	0.3628:0.0:0.6372:0.0	.	343	Q8NE00	TM104_HUMAN	T	343	ENSP00000334849:A343T	ENSP00000334849:A343T	A	+	1	0	TMEM104	70343957	1.000000	0.71417	0.241000	0.24154	0.471000	0.32888	5.138000	0.64795	1.355000	0.45865	0.556000	0.70494	GCG		PASS	0.612	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		207	300	207	300	---	---	---	---
FDXR	2232	broad.mit.edu	37	17	72860614	72860614	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr17:72860614C>A	ENST00000293195.5	-	8	868	c.790G>T	c.(790-792)Gac>Tac	p.D264Y	GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000583917.1_Intron|FDXR_ENST00000420580.2_Missense_Mutation_p.D224Y|FDXR_ENST00000582944.1_Missense_Mutation_p.D256Y|FDXR_ENST00000442102.2_Missense_Mutation_p.D307Y|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000544854.1_Missense_Mutation_p.D212Y|FDXR_ENST00000413947.2_Missense_Mutation_p.D295Y|FDXR_ENST00000581530.1_Missense_Mutation_p.D270Y|FDXR_ENST00000455107.2_Missense_Mutation_p.D220Y	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	264					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)	p.D270Y(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	TTGATCTTGTCCTGGAGACCC	0.607											OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jly.2																			2	Substitution - Missense(2)		lung(2)		0						c.(790-792)GAC>TAC		ferredoxin reductase isoform 1 precursor							42.0	48.0	46.0					17																	72860614		2203	4300	6503	SO:0001583	missense	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72860614C>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.790G>T	17.37:g.72860614C>A	ENSP00000293195:p.Asp264Tyr		OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	FDXR_uc010wri.1_Missense_Mutation_p.D212Y|FDXR_uc010wrj.1_Missense_Mutation_p.D262Y|FDXR_uc002jlw.2_Missense_Mutation_p.D21Y|FDXR_uc002jlx.2_Missense_Mutation_p.D270Y|FDXR_uc002jmc.2_Intron|FDXR_uc010wrk.1_Missense_Mutation_p.D295Y|FDXR_uc010wrl.1_Missense_Mutation_p.D307Y|FDXR_uc002jma.2_Missense_Mutation_p.D265Y|FDXR_uc010wrm.1_Missense_Mutation_p.D224Y|FDXR_uc002jlz.2_Missense_Mutation_p.D256Y|FDXR_uc002jmb.2_Intron	p.D264Y	NM_024417	NP_077728	P22570	ADRO_HUMAN			8	877	-	all_lung(278;0.172)|Lung NSC(278;0.207)		264					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.790G>T	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314271	0.40996	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	4.65	4.65	0.58169	.	0.279368	0.40554	N	0.001071	T	0.35189	0.0923	M	0.84219	2.685	0.44660	D	0.99764	P;D;P;D;P;B;P;B;P	0.57571	0.95;0.98;0.921;0.963;0.919;0.229;0.935;0.229;0.919	P;P;B;B;B;B;B;B;P	0.55824	0.646;0.785;0.365;0.397;0.444;0.104;0.397;0.104;0.568	T	0.20907	-1.0261	10	0.72032	D	0.01	-16.3668	8.7054	0.34351	0.0:0.8255:0.0:0.1745	.	224;307;295;262;212;264;256;264;270	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;ADRO_HUMAN;.	Y	224;212;270;220;307;295	ENSP00000414172:D224Y;ENSP00000445432:D212Y;ENSP00000390875:D220Y;ENSP00000416515:D307Y;ENSP00000408595:D295Y	ENSP00000293195:D270Y	D	-	1	0	FDXR	70372209	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	2.586000	0.46119	2.139000	0.66308	0.561000	0.74099	GAC		PASS	0.607	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		34	67	34	67	---	---	---	---
SIRT7	51547	broad.mit.edu	37	17	79870473	79870473	+	Missense_Mutation	SNP	A	A	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr17:79870473A>C	ENST00000328666.6	-	10	1084	c.1022T>G	c.(1021-1023)tTc>tGc	p.F341C	PCYT2_ENST00000570391.1_5'Flank|PCYT2_ENST00000538721.2_5'Flank|PCYT2_ENST00000331285.3_5'Flank|PCYT2_ENST00000538936.2_5'Flank|PCYT2_ENST00000571105.1_5'Flank|PCYT2_ENST00000570388.1_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	341					histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)	p.F341C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGCCAGTGAGAAAATGGGATC	0.647																																						uc002kcj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)TTC>TGC		sirtuin 7							28.0	34.0	32.0					17																	79870473		2202	4299	6501	SO:0001583	missense	51547				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	g.chr17:79870473A>C	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.1022T>G	17.37:g.79870473A>C	ENSP00000329466:p.Phe341Cys					PCYT2_uc010wva.1_5'Flank|PCYT2_uc010wvb.1_5'Flank|PCYT2_uc002kce.1_5'Flank|PCYT2_uc002kcf.1_5'Flank|PCYT2_uc002kcg.1_5'Flank|PCYT2_uc002kch.1_5'Flank|PCYT2_uc002kci.1_5'Flank|PCYT2_uc010dii.1_5'Flank|PCYT2_uc010wvc.1_5'Flank|SIRT7_uc002kck.1_Missense_Mutation_p.F192C|SIRT7_uc002kcl.1_Missense_Mutation_p.F259C	p.F341C	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		10	1055	-	all_neural(118;0.0878)|Ovarian(332;0.12)		341					A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	ENST00000328666.6	37	c.1022T>G	CCDS11792.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470997	0.84533	.	.	ENSG00000187531	ENST00000328666	T	0.17854	2.25	4.74	4.74	0.60224	.	0.056604	0.64402	D	0.000001	T	0.36771	0.0979	M	0.76328	2.33	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.58873	0.784;0.847	T	0.24154	-1.0168	10	0.66056	D	0.02	-21.7856	13.3565	0.60631	1.0:0.0:0.0:0.0	.	341;341	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	C	341	ENSP00000329466:F341C	ENSP00000329466:F341C	F	-	2	0	SIRT7	77463765	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.740000	0.74832	1.996000	0.58369	0.402000	0.26972	TTC		PASS	0.647	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		4	24	4	24	---	---	---	---
ZNF521	25925	broad.mit.edu	37	18	22807238	22807238	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr18:22807238C>G	ENST00000361524.3	-	4	792	c.644G>C	c.(643-645)aGt>aCt	p.S215T	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.S215T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	215					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)	p.S215T(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTGTAAGGAACTAGAGGACAG	0.493			T	PAX5	ALL																																	uc002kvk.2				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(643-645)AGT>ACT		zinc finger protein 521							98.0	89.0	92.0					18																	22807238		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807238C>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.644G>C	18.37:g.22807238C>G	ENSP00000354794:p.Ser215Thr					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S215T|ZNF521_uc002kvl.2_5'UTR	p.S215T	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	891	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		215			C2H2-type 5.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.644G>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382201	0.24944	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T;T	0.08984	3.17;3.03;3.17	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.040410	0.85682	D	0.000000	T	0.15739	0.0379	N	0.08118	0	0.35467	D	0.796993	D	0.71674	0.998	D	0.77004	0.989	T	0.33163	-0.9879	10	0.59425	D	0.04	-22.5448	20.6634	0.99662	0.0:1.0:0.0:0.0	.	215	Q96K83	ZN521_HUMAN	T	215;249;215	ENSP00000354794:S215T;ENSP00000440768:S249T;ENSP00000382352:S215T	ENSP00000354794:S215T	S	-	2	0	ZNF521	21061236	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.697000	0.68295	2.894000	0.99253	0.655000	0.94253	AGT		PASS	0.493	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		60	73	60	73	---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44561184	44561184	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr18:44561184G>T	ENST00000332567.4	-	1	804	c.452C>A	c.(451-453)cCc>cAc	p.P151H	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	151					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P151H(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCAGCTCTGGGCTCGCGACT	0.662																																						uc002lcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(451-453)CCC>CAC		elongin A2							52.0	60.0	57.0					18																	44561184		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561184G>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.452C>A	18.37:g.44561184G>T	ENSP00000331302:p.Pro151His					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.P151H	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	805	-			151					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.452C>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	0.520	-0.862384	0.02610	.	.	ENSG00000206181	ENST00000332567	T	0.07021	3.23	0.462	-0.924	0.10462	.	5.123500	0.01400	N	0.013556	T	0.04861	0.0131	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33954	-0.9848	9	0.39692	T	0.17	-2.7235	.	.	.	.	151	Q8IYF1	ELOA2_HUMAN	H	151	ENSP00000331302:P151H	ENSP00000331302:P151H	P	-	2	0	TCEB3B	42815182	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.540000	0.06106	-1.268000	0.02439	-0.886000	0.02939	CCC		PASS	0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		79	174	79	174	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63548089	63548089	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr18:63548089G>A	ENST00000397968.2	+	12	2743	c.2317G>A	c.(2317-2319)Gcg>Acg	p.A773T	CDH7_ENST00000323011.3_Missense_Mutation_p.A773T	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	773					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A773T(3)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TAAACGACTCGCGGACATGTA	0.408																																						uc002ljz.2																			3	Substitution - Missense(3)	p.A773T(1)	lung(2)|pancreas(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2317-2319)GCG>ACG		cadherin 7, type 2 preproprotein							63.0	65.0	65.0					18																	63548089		2202	4300	6502	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63548089G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2317G>A	18.37:g.63548089G>A	ENSP00000381058:p.Ala773Thr					CDH7_uc002lkb.2_Missense_Mutation_p.A773T	p.A773T	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			12	2642	+		Esophageal squamous(42;0.129)	773			Cytoplasmic (Potential).		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.2317G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541228	0.85917	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	D;D	0.87491	-2.26;-2.26	5.33	5.33	0.75918	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.94909	0.8354	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95398	0.8487	10	0.62326	D	0.03	.	19.0928	0.93235	0.0:0.0:1.0:0.0	.	773	Q9ULB5	CADH7_HUMAN	T	773	ENSP00000319166:A773T;ENSP00000381058:A773T	ENSP00000319166:A773T	A	+	1	0	CDH7	61699069	1.000000	0.71417	0.462000	0.27118	0.964000	0.63967	9.795000	0.99099	2.510000	0.84645	0.650000	0.86243	GCG		PASS	0.408	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		80	139	80	139	---	---	---	---
SMIM21	284274	broad.mit.edu	37	18	73130763	73130763	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr18:73130763T>C	ENST00000579022.1	-	2	377	c.238A>G	c.(238-240)Agg>Ggg	p.R80G	RP11-321M21.3_ENST00000579386.1_Intron|SMIM21_ENST00000382638.3_Intron|SMIM21_ENST00000584508.1_Missense_Mutation_p.R80G|RP11-321M21.3_ENST00000578340.1_Intron	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21	80						integral component of membrane (GO:0016021)		p.R80G(1)									ctgttggcccttttccagtct	0.368																																						uc002lma.1																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)AGG>GGG		hypothetical protein LOC284274							136.0	131.0	133.0					18																	73130763		2203	4300	6503	SO:0001583	missense	284274					integral to membrane		g.chr18:73130763T>C		CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 62"""	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.238A>G	18.37:g.73130763T>C	ENSP00000462106:p.Arg80Gly					C18orf62_uc010dqw.1_Intron|C18orf62_uc002lmb.1_RNA	p.R80G	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)	2	309	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	80						Missense_Mutation	SNP	ENST00000579022.1	37	c.238A>G	CCDS32845.1	.	.	.	.	.	.	.	.	.	.	T	4.260	0.047263	0.08243	.	.	ENSG00000206026	ENST00000382638	.	.	.	2.47	-1.31	0.09230	.	.	.	.	.	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25710	-1.0124	8	0.87932	D	0	.	5.9114	0.19031	0.0:0.5421:0.0:0.4579	.	80	Q3B7S5	CR062_HUMAN	G	80	.	ENSP00000372083:R80G	R	-	1	2	C18orf62	71259751	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.070000	0.14573	0.345000	0.23873	0.477000	0.44152	AGG		PASS	0.368	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444917.1	NM_001037331		4	445	4	445	---	---	---	---
MAP2K2	5605	broad.mit.edu	37	19	4099227	4099227	+	Silent	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:4099227C>A	ENST00000262948.5	-	7	1144	c.891G>T	c.(889-891)cgG>cgT	p.R297R	MAP2K2_ENST00000599345.1_5'Flank|MAP2K2_ENST00000394867.4_Silent_p.R200R	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	297	Pro-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|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)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)	p.R297R(1)					Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	GGGGCCTCGGCCGAGGCGAGA	0.711																																						uc002lzk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(889-891)CGG>CGT		mitogen-activated protein kinase kinase 2							11.0	13.0	13.0					19																	4099227		2186	4284	6470	SO:0001819	synonymous_variant	5605	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4099227C>A	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.891G>T	19.37:g.4099227C>A						MAP2K2_uc002lzj.2_Silent_p.R107R	p.R297R	NM_030662	NP_109587	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1145	-		Hepatocellular(1079;0.137)	297			Protein kinase.|Pro-rich.			Silent	SNP	ENST00000262948.5	37	c.891G>T	CCDS12120.1																																																																																				PASS	0.711	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			8	7	8	7	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9087266	9087266	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:9087266A>T	ENST00000397910.4	-	1	4752	c.4549T>A	c.(4549-4551)Ttg>Atg	p.L1517M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1517	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.L1517M(2)		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						TGCTGATCCAACGTTGTTGAA	0.448																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(4549-4551)TTG>ATG		mucin 16							271.0	251.0	257.0					19																	9087266		1974	4138	6112	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9087266A>T	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.4549T>A	19.37:g.9087266A>T	ENSP00000381008:p.Leu1517Met						p.L1517M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	4753	-			1517			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.4549T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	1.424	-0.572024	0.03882	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	1.01	-0.201	0.13212	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	P	0.36438	0.553	B	0.26517	0.07	T	0.44436	-0.9328	8	0.87932	D	0	.	3.6633	0.08246	0.5878:0.4122:0.0:0.0	.	1517	B5ME49	.	M	1517	ENSP00000381008:L1517M	ENSP00000381008:L1517M	L	-	1	2	MUC16	8948266	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.578000	0.05841	-0.126000	0.11682	0.260000	0.18958	TTG		PASS	0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	385	20	385	---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9581175	9581175	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:9581175C>T	ENST00000301480.4	-	7	554	c.341G>A	c.(340-342)aGt>aAt	p.S114N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	114	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S114N(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CACAGCCACACTGTCAAAGGT	0.498																																						uc002mlp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(340-342)AGT>AAT		zinc finger protein 560							123.0	106.0	112.0					19																	9581175		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9581175C>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.341G>A	19.37:g.9581175C>T	ENSP00000301480:p.Ser114Asn					ZNF560_uc010dwr.1_Missense_Mutation_p.S8N	p.S114N	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			7	551	-			114			KRAB 2.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.341G>A	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	7.205	0.594183	0.13875	.	.	ENSG00000198028	ENST00000301480	T	0.01560	4.77	2.09	-0.0985	0.13628	Krueppel-associated box (4);	.	.	.	.	T	0.01189	0.0039	N	0.11927	0.2	0.09310	N	1	P	0.40144	0.704	B	0.40901	0.343	T	0.50381	-0.8835	9	0.17832	T	0.49	.	5.6432	0.17575	0.0:0.2546:0.0:0.7454	.	114	Q96MR9	ZN560_HUMAN	N	114	ENSP00000301480:S114N	ENSP00000301480:S114N	S	-	2	0	ZNF560	9442175	0.732000	0.28121	0.012000	0.15200	0.035000	0.12851	1.810000	0.38932	-0.089000	0.12484	-0.259000	0.10710	AGT		PASS	0.498	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		109	58	109	58	---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10468502	10468502	+	Missense_Mutation	SNP	C	C	A	rs148148659		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:10468502C>A	ENST00000525621.1	-	17	2885	c.2404G>T	c.(2404-2406)Gcc>Tcc	p.A802S	TYK2_ENST00000529370.1_Missense_Mutation_p.A802S|TYK2_ENST00000524462.1_Missense_Mutation_p.A617S|TYK2_ENST00000264818.6_Missense_Mutation_p.A802S	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	802	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.A802S(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGGAGGGTGGCGCCAAACCCC	0.667																																						uc002moc.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(2404-2406)GCC>TCC		tyrosine kinase 2							35.0	34.0	35.0					19																	10468502		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10468502C>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2404G>T	19.37:g.10468502C>A	ENSP00000431885:p.Ala802Ser					TYK2_uc010dxe.2_Missense_Mutation_p.A617S|TYK2_uc002mod.2_Missense_Mutation_p.A802S	p.A802S	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		17	2782	-			802			Protein kinase 1.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.2404G>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208097	0.58343	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.86	3.77	0.43336	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.272700	0.24993	N	0.033963	D	0.88112	0.6349	M	0.77616	2.38	0.35609	D	0.808526	D;P	0.71674	0.998;0.52	D;B	0.68483	0.958;0.394	D	0.89774	0.3956	10	0.72032	D	0.01	-24.6476	5.7406	0.18092	0.0:0.7906:0.0:0.2094	.	802;802	E9PPF2;P29597	.;TYK2_HUMAN	S	617;802;802;549;802	ENSP00000433203:A617S;ENSP00000431885:A802S;ENSP00000264818:A802S;ENSP00000432728:A802S	ENSP00000264818:A802S	A	-	1	0	TYK2	10329502	0.782000	0.28689	0.957000	0.39632	0.858000	0.48976	1.290000	0.33319	2.521000	0.84997	0.655000	0.94253	GCC		PASS	0.667	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			19	25	19	25	---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11114047	11114047	+	Nonsense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:11114047G>T	ENST00000429416.3	+	14	2256	c.1975G>T	c.(1975-1977)Gaa>Taa	p.E659*	SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E659*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E659*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E659*|SMARCA4_ENST00000358026.2_Nonsense_Mutation_p.E659*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E659*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E659*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E659*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E659*	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	659					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E659*(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGATAGTGAAGAAAGTGGCTC	0.473			"""F, N, Mis"""		NSCLC																																	uc002mqf.3				Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Substitution - Nonsense(2)|Unknown(1)	p.?(1)	lung(3)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(1975-1977)GAA>TAA		SWI/SNF-related matrix-associated							151.0	144.0	147.0					19																	11114047		2203	4300	6503	SO:0001587	stop_gained	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11114047G>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1975G>T	19.37:g.11114047G>T	ENSP00000395654:p.Glu659*					SMARCA4_uc010dxp.2_Nonsense_Mutation_p.E659*|SMARCA4_uc010dxo.2_Nonsense_Mutation_p.E659*|SMARCA4_uc002mqg.1_Nonsense_Mutation_p.E659*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.E659*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.E659*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.E659*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.E659*	p.E659*	NM_003072	NP_003063	P51532	SMCA4_HUMAN			13	2259	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	659					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Nonsense_Mutation	SNP	ENST00000429416.3	37	c.1975G>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	38	7.064849	0.98040	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.24	4.24	0.50183	.	0.124212	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-26.0871	15.9393	0.79743	0.0:0.0:1.0:0.0	.	.	.	.	X	659;659;723;659;659;659;659;659	.	ENSP00000343896:E659X	E	+	1	0	SMARCA4	10975047	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	9.509000	0.98002	2.355000	0.79922	0.467000	0.42956	GAA		PASS	0.473	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		147	153	147	153	---	---	---	---
B3GNT3	10331	broad.mit.edu	37	19	17918884	17918884	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:17918884C>T	ENST00000318683.6	+	2	415	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	B3GNT3_ENST00000595387.1_Missense_Mutation_p.R90C	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	90					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)	p.R90C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CAGACACTGCCGCCACTTTCC	0.642																																						uc002nhk.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(268-270)CGC>TGC		UDP-GlcNAc:betaGal							41.0	33.0	36.0					19																	17918884		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17918884C>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.268C>T	19.37:g.17918884C>T	ENSP00000321874:p.Arg90Cys					B3GNT3_uc002nhl.1_Missense_Mutation_p.R90C|B3GNT3_uc010ebd.1_Missense_Mutation_p.R90C|B3GNT3_uc010ebe.1_Missense_Mutation_p.R90C	p.R90C	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			2	353	+			90			Lumenal (Potential).		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.268C>T	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290116	0.40494	.	.	ENSG00000179913	ENST00000318683	T	0.33865	1.39	3.72	2.61	0.31194	.	0.124477	0.48286	U	0.000185	T	0.62865	0.2463	M	0.91406	3.205	0.48975	D	0.999736	D	0.89917	1.0	D	0.91635	0.999	T	0.68746	-0.5327	10	0.87932	D	0	.	8.7397	0.34550	0.3939:0.6061:0.0:0.0	.	90	Q9Y2A9	B3GN3_HUMAN	C	90	ENSP00000321874:R90C	ENSP00000321874:R90C	R	+	1	0	B3GNT3	17779884	0.999000	0.42202	0.989000	0.46669	0.209000	0.24338	0.865000	0.27940	1.643000	0.50594	0.472000	0.43445	CGC		PASS	0.642	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		14	9	14	9	---	---	---	---
TMEM59L	25789	broad.mit.edu	37	19	18726810	18726810	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:18726810G>T	ENST00000600490.1	+	5	619	c.434G>T	c.(433-435)gGg>gTg	p.G145V	TMEM59L_ENST00000262817.3_Missense_Mutation_p.G145V			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	145						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G145V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GCTCCAAGTGGGGCCCTCTCC	0.517																																						uc002njy.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(433-435)GGG>GTG		brain-specific membrane-anchored protein							108.0	108.0	108.0					19																	18726810		2203	4300	6503	SO:0001583	missense	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18726810G>T	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.434G>T	19.37:g.18726810G>T	ENSP00000470879:p.Gly145Val					TMEM59L_uc010ebu.1_Missense_Mutation_p.G145V	p.G145V	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN			4	521	+			145						Missense_Mutation	SNP	ENST00000600490.1	37	c.434G>T	CCDS12383.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888784	0.52014	.	.	ENSG00000105696	ENST00000262817	T	0.43688	0.94	4.96	2.56	0.30785	.	0.419358	0.27797	N	0.017808	T	0.30103	0.0754	L	0.29908	0.895	0.44261	D	0.997116	P	0.50943	0.94	P	0.47251	0.542	T	0.01545	-1.1328	10	0.27082	T	0.32	-32.8783	5.5757	0.17222	0.1158:0.3575:0.5268:0.0	.	145	Q9UK28	TM59L_HUMAN	V	145	ENSP00000262817:G145V	ENSP00000262817:G145V	G	+	2	0	TMEM59L	18587810	0.183000	0.23186	0.876000	0.34364	0.862000	0.49288	1.513000	0.35823	2.309000	0.77851	0.491000	0.48974	GGG		PASS	0.517	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			147	111	147	111	---	---	---	---
ZNF93	81931	broad.mit.edu	37	19	20044388	20044388	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:20044388A>T	ENST00000343769.5	+	4	652	c.624A>T	c.(622-624)aaA>aaT	p.K208N	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K208N(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AATGTGGCAAAGCCTTTAAGT	0.373																																						uc002non.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(622-624)AAA>AAT		zinc finger protein 93							37.0	39.0	38.0					19																	20044388		2203	4298	6501	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044388A>T	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.624A>T	19.37:g.20044388A>T	ENSP00000342002:p.Lys208Asn						p.K208N	NM_031218	NP_112495	P35789	ZNF93_HUMAN			4	735	+			208			C2H2-type 3.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.624A>T	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	a	16.98	3.272064	0.59649	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.07908	3.15	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22205	0.0535	M	0.82716	2.605	0.27417	N	0.954415	P	0.51791	0.948	P	0.59115	0.852	T	0.06144	-1.0843	9	0.66056	D	0.02	.	5.4163	0.16376	1.0:0.0:0.0:0.0	.	208	P35789	ZNF93_HUMAN	N	208	ENSP00000342002:K208N	ENSP00000342002:K208N	K	+	3	2	ZNF93	19905388	0.164000	0.22935	0.618000	0.29105	0.618000	0.37518	0.467000	0.22035	0.148000	0.19059	0.147000	0.16070	AAA		PASS	0.373	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		40	26	40	26	---	---	---	---
SHKBP1	92799	broad.mit.edu	37	19	41086391	41086391	+	Splice_Site	SNP	G	G	A	rs145900196		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:41086391G>A	ENST00000291842.5	+	7	611	c.562G>A	c.(562-564)Gga>Aga	p.G188R	SHKBP1_ENST00000600733.1_Splice_Site_p.G188R	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	188					protein homooligomerization (GO:0051260)			p.G188R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCACCCTCAGGTACGTTTCT	0.617																																						uc002oob.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(562-564)GGA>AGA		SH3KBP1 binding protein 1							71.0	74.0	73.0					19																	41086391		2203	4300	6503	SO:0001630	splice_region_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41086391G>A	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.562+1G>A	19.37:g.41086391G>A						SHKBP1_uc002ooc.2_Missense_Mutation_p.G188R|SHKBP1_uc002ood.2_Missense_Mutation_p.G188R|SHKBP1_uc010xvl.1_Missense_Mutation_p.G111R|SHKBP1_uc002ooe.2_Missense_Mutation_p.G25R|SHKBP1_uc002oof.2_Missense_Mutation_p.G25R|SHKBP1_uc010xvm.1_Missense_Mutation_p.G25R|SHKBP1_uc010xvn.1_Missense_Mutation_p.G66R	p.G188R	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	611	+			188					Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	ENST00000291842.5	37	c.562G>A	CCDS12560.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720053	0.68844	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.44881	0.91	5.25	5.25	0.73442	.	0.057656	0.64402	D	0.000002	T	0.61702	0.2368	M	0.72118	2.19	0.43907	D	0.996542	D;D;D;D;P;D;D	0.89917	0.965;0.999;0.997;1.0;0.544;0.994;1.0	P;D;D;D;P;P;D	0.91635	0.663;0.952;0.958;0.999;0.461;0.832;0.998	T	0.64411	-0.6414	10	0.66056	D	0.02	-12.6461	11.4586	0.50197	0.0:0.0:0.82:0.18	.	66;25;111;25;188;188;188	B4DLI0;B4DUW2;B4DUV2;B3KVX8;Q8TBC3-2;B2R6W9;Q8TBC3	.;.;.;.;.;.;SHKB1_HUMAN	R	188;25	ENSP00000291842:G188R	ENSP00000291842:G188R	G	+	1	0	SHKBP1	45778231	1.000000	0.71417	0.985000	0.45067	0.771000	0.43674	4.256000	0.58810	2.444000	0.82710	0.455000	0.32223	GGA		PASS	0.617	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392	Missense_Mutation	33	56	33	56	---	---	---	---
DMRTC2	63946	broad.mit.edu	37	19	42353006	42353006	+	Silent	SNP	G	G	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:42353006G>C	ENST00000269945.3	+	5	642	c.591G>C	c.(589-591)ctG>ctC	p.L197L	DMRTC2_ENST00000596827.1_Silent_p.L197L	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	197	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L197L(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GCCGCCTGCTGTACCAAGAAC	0.552																																						uc002ors.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(589-591)CTG>CTC		DMRT-like family C2							106.0	102.0	104.0					19																	42353006		2203	4300	6503	SO:0001819	synonymous_variant	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42353006G>C	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.591G>C	19.37:g.42353006G>C						DMRTC2_uc002orr.1_Silent_p.L74L|DMRTC2_uc010xwe.1_Silent_p.L197L	p.L197L	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN			5	674	+			197			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Silent	SNP	ENST00000269945.3	37	c.591G>C	CCDS33034.1																																																																																				PASS	0.552	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		78	60	78	60	---	---	---	---
PSG9	5678	broad.mit.edu	37	19	43762597	43762597	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:43762597G>T	ENST00000270077.3	-	5	1096	c.1000C>A	c.(1000-1002)Ctc>Atc	p.L334I	PSG9_ENST00000244293.7_Missense_Mutation_p.L241I|PSG9_ENST00000593948.1_Missense_Mutation_p.L241I|PSG9_ENST00000443718.3_Missense_Mutation_p.L241I|PSG9_ENST00000596730.1_Missense_Mutation_p.L148I|PSG9_ENST00000418820.2_Missense_Mutation_p.L241I|PSG9_ENST00000291752.5_Missense_Mutation_p.L148I	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	334					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.L334I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ATTCTGGGGAGGTCTGGACCA	0.493																																						uc002owd.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1000-1002)CTC>ATC		pregnancy specific beta-1-glycoprotein 9							113.0	141.0	131.0					19																	43762597		2141	4279	6420	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43762597G>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.1000C>A	19.37:g.43762597G>T	ENSP00000270077:p.Leu334Ile					PSG9_uc002owe.3_Missense_Mutation_p.L241I|PSG9_uc010xwm.1_Missense_Mutation_p.L241I|PSG9_uc002owf.3_Missense_Mutation_p.L148I|PSG9_uc002owg.2_Missense_Mutation_p.L241I|PSG9_uc002owh.2_Missense_Mutation_p.L148I	p.L334I	NM_002784	NP_002775	Q00887	PSG9_HUMAN			5	1099	-		Prostate(69;0.00682)	334					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.1000C>A	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	6.620	0.482820	0.12581	.	.	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293	T;T;T;T	0.10960	3.07;2.82;3.07;2.82	1.31	-0.0357	0.13891	.	.	.	.	.	T	0.19127	0.0459	L	0.55481	1.735	0.09310	N	1	P;P;P;B;P;D	0.59357	0.952;0.952;0.804;0.001;0.597;0.985	P;P;P;B;B;P	0.62298	0.792;0.792;0.542;0.001;0.401;0.9	T	0.11717	-1.0576	9	0.51188	T	0.08	.	4.1302	0.10146	0.0:0.0:0.3802:0.6198	.	241;190;241;148;334;334	E7EW65;Q15225;Q15227;G3XAA7;Q6LEU7;Q00887	.;.;.;.;.;PSG9_HUMAN	I	334;148;241;295;241	ENSP00000270077:L334I;ENSP00000291752:L148I;ENSP00000396753:L241I;ENSP00000244293:L241I	ENSP00000244293:L241I	L	-	1	0	PSG9	48454437	0.001000	0.12720	0.045000	0.18777	0.010000	0.07245	-1.071000	0.03437	-0.227000	0.09884	-1.210000	0.01631	CTC		PASS	0.493	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		213	91	213	91	---	---	---	---
ZNF284	342909	broad.mit.edu	37	19	44590676	44590676	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:44590676G>A	ENST00000421176.3	+	5	1261	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	349					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.G349R(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				TGAAGAATGTGGAAGGAGCTT	0.398																																						uc002oyg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1045-1047)GGA>AGA		zinc finger protein 284							76.0	79.0	78.0					19																	44590676		2097	4255	6352	SO:0001583	missense	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44590676G>A	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1045G>A	19.37:g.44590676G>A	ENSP00000411032:p.Gly349Arg					ZNF284_uc010ejd.2_RNA	p.G349R	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN			5	1261	+		Prostate(69;0.0435)	349			C2H2-type 8.		Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	c.1045G>A	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938115	0.73557	.	.	ENSG00000186026	ENST00000421176	T	0.07444	3.19	2.72	2.72	0.32119	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27629	0.0679	M	0.76838	2.35	0.35848	D	0.826513	D	0.89917	1.0	D	0.97110	1.0	T	0.40213	-0.9575	9	0.59425	D	0.04	.	12.5692	0.56326	0.0:0.0:1.0:0.0	.	349	Q2VY69	ZN284_HUMAN	R	349	ENSP00000411032:G349R	ENSP00000411032:G349R	G	+	1	0	ZNF284	49282516	1.000000	0.71417	0.912000	0.35992	0.201000	0.24016	3.689000	0.54706	1.503000	0.48686	0.561000	0.74099	GGA		PASS	0.398	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		85	54	85	54	---	---	---	---
ZNF611	81856	broad.mit.edu	37	19	53210037	53210037	+	Missense_Mutation	SNP	G	G	C	rs573877579		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:53210037G>C	ENST00000319783.1	-	7	587	c.271C>G	c.(271-273)Caa>Gaa	p.Q91E	ZNF611_ENST00000595798.1_Missense_Mutation_p.Q22E|ZNF611_ENST00000453741.2_Missense_Mutation_p.Q22E|ZNF611_ENST00000540744.1_Missense_Mutation_p.Q91E|ZNF611_ENST00000600943.1_Missense_Mutation_p.A73G|ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000596702.1_3'UTR|ZNF611_ENST00000543227.1_Missense_Mutation_p.Q91E|ZNF611_ENST00000602162.1_Missense_Mutation_p.Q22E	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	91	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q91E(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCATGTCTTTGCAATGTCCCT	0.378																																						uc002pzz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(271-273)CAA>GAA		zinc finger protein 611 isoform a							195.0	195.0	195.0					19																	53210037		2203	4299	6502	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53210037G>C	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.271C>G	19.37:g.53210037G>C	ENSP00000322427:p.Gln91Glu					ZNF611_uc010eqc.2_Missense_Mutation_p.Q21E|ZNF611_uc010ydo.1_Missense_Mutation_p.Q21E|ZNF611_uc010ydr.1_Missense_Mutation_p.Q22E|ZNF611_uc010ydp.1_Missense_Mutation_p.Q91E|ZNF611_uc010ydq.1_Missense_Mutation_p.Q91E|ZNF611_uc002qaa.3_Missense_Mutation_p.Q21E	p.Q91E	NM_030972	NP_112234	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	7	588	-			91			KRAB.		B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.271C>G	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.660759	0.00107	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	0.958	-0.491	0.12045	Krueppel-associated box (1);	.	.	.	.	T	0.02455	0.0075	N	0.11427	0.14	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.46498	-0.9187	9	0.02654	T	1	.	4.9	0.13769	0.0:0.5941:0.4059:0.0	.	91	Q8N823	ZN611_HUMAN	E	91;91;22;91	ENSP00000437616:Q91E;ENSP00000439211:Q91E;ENSP00000443505:Q22E;ENSP00000322427:Q91E	ENSP00000322427:Q91E	Q	-	1	0	ZNF611	57901849	0.000000	0.05858	0.006000	0.13384	0.012000	0.07955	-0.764000	0.04735	-0.020000	0.14032	-0.840000	0.03056	CAA		PASS	0.378	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		310	203	310	203	---	---	---	---
MIR521-1	574494	broad.mit.edu	37	19	54251905	54251905	+	RNA	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:54251905C>T	ENST00000384902.1	+	0	16				RNU6-751P_ENST00000516382.1_RNA|MIR522_ENST00000385071.1_RNA	NR_030216.1				microRNA 521-1																		GGCTGTGACCCTCCAAAGGGA	0.403																																						hsa-mir-521-1|MI0003176																			0					0															121.0	117.0	118.0					19																	54251905		1568	3582	5150			574494							g.chr19:54251905C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207634	ENSG00000207634		"""ncRNAs / Micro RNAs"""	32126	non-coding RNA	RNA, micro				MIRN521-1			Standard	NR_030216		Approved	hsa-mir-521-1	uc021vas.1				19.37:g.54251905C>T						MIR522_hsa-mir-522|MI0003177_5'Flank										+									RNA	SNP	ENST00000384902.1	37	c.16C>T																																																																																					PASS	0.403	MIR521-1-201	KNOWN	basic	miRNA	miRNA		NR_030216		100	90	100	90	---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55107869	55107869	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:55107869T>A	ENST00000251372.3	+	7	1356	c.1174T>A	c.(1174-1176)Tcg>Acg	p.S392T	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	392	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.S392T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTCAGCCCACTCGGGGACCTA	0.587																																						uc002qgh.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1174-1176)TCG>ACG		leukocyte immunoglobulin-like receptor,							144.0	135.0	138.0					19																	55107869		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107869T>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1174T>A	19.37:g.55107869T>A	ENSP00000251372:p.Ser392Thr					LILRA2_uc010yfg.1_Missense_Mutation_p.S390T|LILRA1_uc010yfh.1_Missense_Mutation_p.S392T	p.S392T	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	7	1356	+			392			Ig-like C2-type 4.|Extracellular (Potential).		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.1174T>A	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.593363	0.00864	.	.	ENSG00000104974	ENST00000251372	T	0.03496	3.91	1.8	-3.59	0.04583	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.846833	0.09755	N	0.760012	T	0.01976	0.0062	N	0.13098	0.295	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.45205	-0.9277	10	0.62326	D	0.03	.	0.6627	0.00845	0.4001:0.1718:0.2547:0.1734	.	392	O75019	LIRA1_HUMAN	T	392	ENSP00000251372:S392T	ENSP00000251372:S392T	S	+	1	0	LILRA1	59799681	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.554000	0.02172	-1.875000	0.01132	-0.982000	0.02568	TCG		PASS	0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		159	86	159	86	---	---	---	---
ZSCAN5A	79149	broad.mit.edu	37	19	56733262	56733262	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:56733262C>A	ENST00000587340.1	-	7	1868	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.K390N|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.K274N|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.K391N|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.K245N			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	391					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.K391N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCATGAAGCGCTTCCCACAGA	0.507																																						uc002qmq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1171-1173)AAG>AAT		zinc finger and SCAN domain containing 5A							67.0	65.0	66.0					19																	56733262		2203	4300	6503	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56733262C>A	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.1173G>T	19.37:g.56733262C>A	ENSP00000467631:p.Lys391Asn					ZSCAN5A_uc010ygi.1_Missense_Mutation_p.K274N|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.K391N|ZSCAN5A_uc002qms.1_Missense_Mutation_p.K390N	p.K391N	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN			5	1339	-			391			C2H2-type 2.		B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.1173G>T	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061170	0.36373	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.27890	1.64;1.64	2.83	0.357	0.16079	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51991	0.1707	M	0.84683	2.71	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.71414	0.973;0.944	T	0.35847	-0.9772	9	0.87932	D	0	.	5.2836	0.15688	0.0:0.5081:0.0:0.4919	.	274;391	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	N	391;274	ENSP00000375593:K391N;ENSP00000254165:K274N	ENSP00000254165:K274N	K	-	3	2	ZSCAN5A	61425074	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.171000	0.09883	0.025000	0.15241	0.561000	0.74099	AAG		PASS	0.507	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		35	23	35	23	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58565155	58565155	+	Silent	SNP	G	G	A	rs375333796		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:58565155G>A	ENST00000282326.1	+	6	1210	c.963G>A	c.(961-963)ccG>ccA	p.P321P		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	321					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)|transcription coactivator activity (GO:0003713)	p.P321P(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCCTTTCCGTGCCCCGAGT	0.627																																						uc002qrc.1																			2	Substitution - coding silent(2)		cervix(1)|lung(1)	ovary(2)	2						c.(961-963)CCG>CCA		zinc finger and SCAN domain containing 1		G		0,4406		0,0,2203	70.0	62.0	65.0		963	1.2	0.0	19		65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZSCAN1	NM_182572.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		321/409	58565155	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565155G>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.963G>A	19.37:g.58565155G>A							p.P321P	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1210	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	321			C2H2-type 2.		Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.963G>A	CCDS12969.1																																																																																				PASS	0.627	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		64	30	64	30	---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58579304	58579304	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:58579304C>A	ENST00000313434.5	+	5	1553	c.1452C>A	c.(1450-1452)caC>caA	p.H484Q	ZNF135_ENST00000511556.1_Missense_Mutation_p.H496Q|ZNF135_ENST00000401053.4_Missense_Mutation_p.H508Q|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.H484Q|ZNF135_ENST00000506786.1_Missense_Mutation_p.H442Q	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	484					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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.H484Q(1)|p.H508Q(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TCACCCAACACCAGCGAATCC	0.567																																						uc010yhq.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1486-1488)CAC>CAA		zinc finger protein 135 isoform 2							94.0	84.0	87.0					19																	58579304		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579304C>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1452C>A	19.37:g.58579304C>A	ENSP00000321406:p.His484Gln					ZNF135_uc002qre.2_Missense_Mutation_p.H484Q|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.H442Q|ZNF135_uc002qrg.2_Missense_Mutation_p.H454Q|ZNF135_uc010yhr.1_Missense_Mutation_p.H305Q	p.H496Q	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1584	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	496					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1488C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.957|7.957	0.746108|0.746108	0.15710|0.15710	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000391699	D;D;D;D;D|.	0.86865|.	-2.18;-2.18;-2.18;-2.18;-2.18|.	2.99|2.99	-5.94|-5.94	0.02247|0.02247	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.71871|0.71871	0.3391|0.3391	H|H	0.95260|0.95260	3.645|3.645	0.19575|0.19575	N|N	0.999969|0.999969	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.71324|0.71324	-0.4627|-0.4627	9|5	0.87932|.	D|.	0|.	.|.	11.1215|11.1215	0.48293|0.48293	0.0:0.3474:0.0:0.6526|0.0:0.3474:0.0:0.6526	.|.	496;484|.	E9PEV2;P52742|.	.;ZN135_HUMAN|.	Q|N	508;484;484;496;442|502	ENSP00000441410:H508Q;ENSP00000444828:H484Q;ENSP00000321406:H484Q;ENSP00000422074:H496Q;ENSP00000427691:H442Q|.	ENSP00000321406:H484Q|.	H|T	+|+	3|2	2|0	ZNF135|ZNF135	63271116|63271116	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.295000|-1.295000	0.02764|0.02764	-1.133000|-1.133000	0.02903|0.02903	-0.484000|-0.484000	0.04775|0.04775	CAC|ACC		PASS	0.567	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		72	46	72	46	---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2380260	2380260	+	Nonsense_Mutation	SNP	C	C	A	rs373895401		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr20:2380260C>A	ENST00000202625.2	+	6	787	c.726C>A	c.(724-726)taC>taA	p.Y242*	TGM6_ENST00000381423.1_Nonsense_Mutation_p.Y242*|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	242					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.Y242*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGGGCAAGTACGGCGGCGGCA	0.652																																						uc002wfy.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(724-726)TAC>TAA		transglutaminase 6	L-Glutamine(DB00130)						78.0	64.0	68.0					20																	2380260		2203	4300	6503	SO:0001587	stop_gained	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2380260C>A	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.726C>A	20.37:g.2380260C>A	ENSP00000202625:p.Tyr242*					TGM6_uc010gal.1_Nonsense_Mutation_p.Y242*	p.Y242*	NM_198994	NP_945345	O95932	TGM3L_HUMAN			6	787	+			242					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Nonsense_Mutation	SNP	ENST00000202625.2	37	c.726C>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537275	0.85812	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	.	.	.	5.0	1.73	0.24493	.	0.125309	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.34	6.4087	0.21678	0.0:0.5499:0.0:0.4501	.	.	.	.	X	242	.	ENSP00000202625:Y242X	Y	+	3	2	TGM6	2328260	0.002000	0.14202	0.998000	0.56505	0.598000	0.36846	0.100000	0.15231	0.147000	0.19030	-0.258000	0.10820	TAC		PASS	0.652	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		38	82	38	82	---	---	---	---
SLX4IP	128710	broad.mit.edu	37	20	10603960	10603960	+	Missense_Mutation	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr20:10603960C>G	ENST00000334534.5	+	8	1340	c.1160C>G	c.(1159-1161)aCt>aGt	p.T387S		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	387								p.T387S(1)									GCCACAAACACTGAAAGATTA	0.433																																						uc010zre.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)ACT>AGT		hypothetical protein LOC128710							47.0	51.0	49.0					20																	10603960		2203	4300	6503	SO:0001583	missense	128710						protein binding	g.chr20:10603960C>G	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.1160C>G	20.37:g.10603960C>G	ENSP00000335557:p.Thr387Ser						p.T387S	NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN			8	1340	+			387					Q05CG2|Q05CT9	Missense_Mutation	SNP	ENST00000334534.5	37	c.1160C>G	CCDS33439.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428437	0.25726	.	.	ENSG00000149346	ENST00000334534	T	0.46819	0.86	5.36	-0.519	0.11939	.	0.800098	0.11672	N	0.540718	T	0.37598	0.1009	L	0.56769	1.78	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.35226	-0.9797	10	0.49607	T	0.09	0.096	3.6176	0.08083	0.1242:0.4958:0.2407:0.1393	.	387	Q5VYV7	CT094_HUMAN	S	387	ENSP00000335557:T387S	ENSP00000335557:T387S	T	+	2	0	C20orf94	10551960	0.000000	0.05858	0.051000	0.19133	0.812000	0.45895	0.095000	0.15127	0.043000	0.15746	0.650000	0.86243	ACT		PASS	0.433	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		61	118	61	118	---	---	---	---
SSTR4	6754	broad.mit.edu	37	20	23016993	23016993	+	Silent	SNP	C	C	T	rs199944012		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr20:23016993C>T	ENST00000255008.3	+	1	937	c.873C>T	c.(871-873)acC>acT	p.T291T	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	291					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.T291T(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TTGATGCCACCGTCAACCACG	0.572													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18688	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(15;850 1104 16640)	uc002wsr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(871-873)ACC>ACT		somatostatin receptor 4							210.0	210.0	210.0					20																	23016993		2203	4300	6503	SO:0001819	synonymous_variant	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016993C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.873C>T	20.37:g.23016993C>T							p.T291T	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	937	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		291			Extracellular (Potential).		Q17RM1|Q17RM3|Q9UIY1	Silent	SNP	ENST00000255008.3	37	c.873C>T	CCDS42856.1																																																																																				PASS	0.572	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			39	157	39	157	---	---	---	---
CST5	1473	broad.mit.edu	37	20	23858245	23858245	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr20:23858245C>T	ENST00000304710.4	-	2	315	c.242G>A	c.(241-243)gGg>gAg	p.G81E		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	81					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.G81E(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						GTAGTTCACCCCACCCACGAT	0.527																																						uc002wtr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(241-243)GGG>GAG		cystatin D precursor							190.0	140.0	157.0					20																	23858245		2203	4300	6503	SO:0001583	missense	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23858245C>T		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.242G>A	20.37:g.23858245C>T	ENSP00000307132:p.Gly81Glu						p.G81E	NM_001900	NP_001891	P28325	CYTD_HUMAN			2	309	-			81					Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	c.242G>A	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327794	0.41197	.	.	ENSG00000170367	ENST00000304710	T	0.40476	1.03	2.56	2.56	0.30785	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.000000	0.85682	U	0.000000	T	0.67505	0.2900	M	0.92412	3.305	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.58216	-0.7675	10	0.72032	D	0.01	.	8.6458	0.34005	0.0:1.0:0.0:0.0	.	81	P28325	CYTD_HUMAN	E	81	ENSP00000307132:G81E	ENSP00000307132:G81E	G	-	2	0	CST5	23806245	0.035000	0.19736	0.016000	0.15963	0.032000	0.12392	2.235000	0.43044	1.430000	0.47334	0.462000	0.41574	GGG		PASS	0.527	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		96	137	96	137	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24646078	24646078	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr20:24646078G>A	ENST00000376862.3	+	4	1348	c.715G>A	c.(715-717)Ggc>Agc	p.G239S		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	239					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.G239S(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CATTGGGACTGGCGTCTATGT	0.647																																						uc002wtw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)GGC>AGC		transmembrane protein 90B							121.0	121.0	121.0					20																	24646078		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24646078G>A	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.715G>A	20.37:g.24646078G>A	ENSP00000366058:p.Gly239Ser						p.G239S	NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN			4	1348	+			239					Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.715G>A	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	G	36	5.662768	0.96734	.	.	ENSG00000101463	ENST00000376862	D	0.85861	-2.04	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.88647	0.6493	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87928	0.2708	10	0.42905	T	0.14	-55.5849	17.4163	0.87500	0.0:0.0:1.0:0.0	.	239	Q9H7V2	SYNG1_HUMAN	S	239	ENSP00000366058:G239S	ENSP00000366058:G239S	G	+	1	0	SYNDIG1	24594078	1.000000	0.71417	0.972000	0.41901	0.975000	0.68041	9.529000	0.98049	2.709000	0.92574	0.555000	0.69702	GGC		PASS	0.647	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		91	194	91	194	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31394017	31394017	+	Silent	SNP	A	A	G	rs200478359		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr20:31394017A>G	ENST00000328111.2	+	22	2625	c.2304A>G	c.(2302-2304)ttA>ttG	p.L768L	DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000353855.2_Silent_p.L748L|DNMT3B_ENST00000201963.3_Silent_p.L760L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	768	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.L768L(1)|p.L760L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCTCCAGTTAAAGAAAGTAC	0.453																																						uc002wyc.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)	5						c.(2302-2304)TTA>TTG		DNA cytosine-5 methyltransferase 3 beta isoform							90.0	82.0	85.0					20																	31394017		2203	4300	6503	SO:0001819	synonymous_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31394017A>G		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.2304A>G	20.37:g.31394017A>G						DNMT3B_uc002wyd.2_Silent_p.L748L|DNMT3B_uc002wye.2_Intron|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_Intron|DNMT3B_uc010ztz.1_Intron|DNMT3B_uc010zua.1_Intron|DNMT3B_uc002wyf.2_Silent_p.L760L|DNMT3B_uc002wyg.2_Intron|DNMT3B_uc010geg.2_Intron|DNMT3B_uc010geh.2_RNA	p.L768L	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			22	2625	+			768					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	c.2304A>G	CCDS13205.1																																																																																				PASS	0.453	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		90	124	90	124	---	---	---	---
CTNNBL1	56259	broad.mit.edu	37	20	36500353	36500353	+	Missense_Mutation	SNP	C	C	T	rs370193565		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr20:36500353C>T	ENST00000361383.6	+	16	1747	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.R357W|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.R292W|CTNNBL1_ENST00000405275.2_Missense_Mutation_p.R517W	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	544					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)	p.R544W(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CGGGGACGGCCGGAGCCCGGA	0.587																																					Ovarian(184;582 2038 3273 4106 42608)	uc010zvw.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1630-1632)CGG>TGG		beta catenin-like 1		C	TRP/ARG	0,4406		0,0,2203	61.0	60.0	61.0		1630	4.6	1.0	20		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	CTNNBL1	NM_030877.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	544/564	36500353	1,13005	2203	4300	6503	SO:0001583	missense	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36500353C>T	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1630C>T	20.37:g.36500353C>T	ENSP00000355050:p.Arg544Trp					CTNNBL1_uc002xhh.2_Missense_Mutation_p.R357W|CTNNBL1_uc002xhi.2_RNA|CTNNBL1_uc002xhj.2_Missense_Mutation_p.R292W	p.R544W	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN			17	1721	+		Myeloproliferative disorder(115;0.00878)	544					B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Missense_Mutation	SNP	ENST00000361383.6	37	c.1630C>T	CCDS13298.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132893	0.77662	0.0	1.16E-4	ENSG00000132792	ENST00000361383;ENST00000405275;ENST00000373473;ENST00000373469	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.56	4.55	0.56014	.	0.051011	0.85682	D	0.000000	T	0.34164	0.0888	N	0.08118	0	0.36852	D	0.887949	P;P	0.40266	0.587;0.71	P;P	0.51170	0.46;0.661	T	0.44159	-0.9346	10	0.72032	D	0.01	-8.3548	9.9562	0.41668	0.2517:0.7483:0.0:0.0	.	544;357	Q8WYA6;Q8WYA6-2	CTBL1_HUMAN;.	W	544;517;357;292	ENSP00000355050:R544W;ENSP00000384355:R517W;ENSP00000362572:R357W;ENSP00000362568:R292W	ENSP00000355050:R544W	R	+	1	2	CTNNBL1	35933767	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.812000	0.38952	2.602000	0.87976	0.563000	0.77884	CGG		PASS	0.587	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877		55	119	55	119	---	---	---	---
SGK2	10110	broad.mit.edu	37	20	42196603	42196603	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr20:42196603G>T	ENST00000341458.4	+	4	591	c.372G>T	c.(370-372)aaG>aaT	p.K124N	SGK2_ENST00000373100.1_Missense_Mutation_p.K64N|SGK2_ENST00000373077.1_Missense_Mutation_p.K64N|SGK2_ENST00000423407.3_Missense_Mutation_p.K64N|SGK2_ENST00000426287.1_Missense_Mutation_p.K90N|SGK2_ENST00000373092.3_Missense_Mutation_p.K64N	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	124	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)	p.K124N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATGCAGTGAAGGTACTACAGA	0.493																																						uc002xkv.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	6						c.(370-372)AAG>AAT		serum/glucocorticoid regulated kinase 2 isoform							79.0	76.0	77.0					20																	42196603		2203	4300	6503	SO:0001583	missense	10110				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity	g.chr20:42196603G>T	AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.372G>T	20.37:g.42196603G>T	ENSP00000340608:p.Lys124Asn					SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.K64N|SGK2_uc010ggm.2_Missense_Mutation_p.K64N|SGK2_uc002xks.2_Missense_Mutation_p.K64N|SGK2_uc002xku.2_Missense_Mutation_p.K64N|SGK2_uc002xkq.1_Missense_Mutation_p.K64N	p.K124N	NM_016276	NP_057360	Q9HBY8	SGK2_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		4	591	+		Myeloproliferative disorder(115;0.00452)	124			Protein kinase.	ATP (By similarity).	Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	ENST00000341458.4	37	c.372G>T	CCDS13320.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775442	0.70107	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	4.39	1.23	0.21249	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87708	0.6245	H	0.98577	4.27	0.80722	D	1	D;D;D	0.89917	0.961;0.984;1.0	P;D;D	0.97110	0.879;0.959;1.0	D	0.85987	0.1486	10	0.87932	D	0	.	7.0892	0.25275	0.4099:0.0:0.5901:0.0	.	90;124;64	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	N	64;64;64;64;64;124;90	ENSP00000362192:K64N;ENSP00000362184:K64N;ENSP00000362168:K64N;ENSP00000396222:K64N;ENSP00000392795:K64N;ENSP00000340608:K124N;ENSP00000412214:K90N	ENSP00000340608:K124N	K	+	3	2	SGK2	41630017	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.611000	0.46334	0.492000	0.27815	0.561000	0.74099	AAG		PASS	0.493	SGK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080383.1			82	153	82	153	---	---	---	---
JPH2	57158	broad.mit.edu	37	20	42744475	42744475	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr20:42744475G>T	ENST00000372980.3	-	4	2712	c.1840C>A	c.(1840-1842)Cct>Act	p.P614T		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	614	Pro-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.P614T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCGCGTGCAGGCTCGGGGCCT	0.731																																						uc002xli.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1840-1842)CCT>ACT		junctophilin 2 isoform 1							11.0	13.0	12.0					20																	42744475		2184	4276	6460	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42744475G>T	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1840C>A	20.37:g.42744475G>T	ENSP00000362071:p.Pro614Thr						p.P614T	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	2713	-		Myeloproliferative disorder(115;0.0122)	614			Pro-rich.|Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.1840C>A	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	G	5.060	0.196770	0.09599	.	.	ENSG00000149596	ENST00000372980	T	0.63417	-0.04	3.34	-1.79	0.07932	.	0.986991	0.08242	U	0.975924	T	0.41627	0.1167	N	0.22421	0.69	0.19300	N	0.999977	B	0.17038	0.02	B	0.14578	0.011	T	0.16837	-1.0389	10	0.33141	T	0.24	.	4.2022	0.10471	0.3346:0.1769:0.4885:0.0	.	614	Q9BR39	JPH2_HUMAN	T	614	ENSP00000362071:P614T	ENSP00000362071:P614T	P	-	1	0	JPH2	42177889	0.000000	0.05858	0.004000	0.12327	0.186000	0.23388	-0.024000	0.12435	-0.715000	0.04968	0.313000	0.20887	CCT		PASS	0.731	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			8	14	8	14	---	---	---	---
SULF2	55959	broad.mit.edu	37	20	46313280	46313280	+	Silent	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr20:46313280G>T	ENST00000359930.4	-	6	1634	c.783C>A	c.(781-783)atC>atA	p.I261I	SULF2_ENST00000484875.1_Silent_p.I261I|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Silent_p.I261I|SULF2_ENST00000467815.1_Silent_p.I261I	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	261					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.I261I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGTAGCGCATGATCCAGTGTT	0.602																																						uc002xto.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(781-783)ATC>ATA		sulfatase 2 isoform a precursor							165.0	111.0	129.0					20																	46313280		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46313280G>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.783C>A	20.37:g.46313280G>T						SULF2_uc002xtr.2_Silent_p.I261I|SULF2_uc002xtq.2_Silent_p.I261I	p.I261I	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			6	1113	-			261					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.783C>A	CCDS13408.1																																																																																				PASS	0.602	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		29	45	29	45	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47259002	47259002	+	Silent	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr20:47259002C>T	ENST00000371941.3	-	28	3649	c.3627G>A	c.(3625-3627)cgG>cgA	p.R1209R	PREX1_ENST00000496915.1_5'UTR|PREX1_ENST00000396220.1_Silent_p.R1209R	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1209					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1209R(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CAGATGGGATCCGCATGTCAC	0.572																																						uc002xtw.1																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(3625-3627)CGG>CGA		phosphatidylinositol-3,4,							75.0	69.0	71.0					20																	47259002		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47259002C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3627G>A	20.37:g.47259002C>T						PREX1_uc002xtv.1_Silent_p.R506R	p.R1209R	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		28	3650	-			1209					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.3627G>A	CCDS13410.1																																																																																				PASS	0.572	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		25	71	25	71	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47269240	47269240	+	Missense_Mutation	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr20:47269240A>T	ENST00000371941.3	-	21	2373	c.2351T>A	c.(2350-2352)cTg>cAg	p.L784Q	PREX1_ENST00000396220.1_Missense_Mutation_p.L784Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	784					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L784Q(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCACTGGTACAGGCCCTGCCA	0.647																																						uc002xtw.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(2350-2352)CTG>CAG		phosphatidylinositol-3,4,							52.0	43.0	46.0					20																	47269240		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47269240A>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2351T>A	20.37:g.47269240A>T	ENSP00000361009:p.Leu784Gln					PREX1_uc002xtv.1_Missense_Mutation_p.L81Q	p.L784Q	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		21	2374	-			784					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2351T>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367258	0.61513	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.43688	0.94;0.94	4.5	4.5	0.54988	PDZ/DHR/GLGF (1);	0.000000	0.43416	U	0.000571	T	0.54515	0.1863	L	0.44542	1.39	0.37117	D	0.900621	D;D	0.76494	0.981;0.999	P;D	0.70935	0.664;0.971	T	0.61559	-0.7038	10	0.48119	T	0.1	.	13.8299	0.63373	1.0:0.0:0.0:0.0	.	784;81	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Q	784	ENSP00000361009:L784Q;ENSP00000379522:L784Q	ENSP00000361009:L784Q	L	-	2	0	PREX1	46702647	0.984000	0.35163	1.000000	0.80357	0.755000	0.42902	5.048000	0.64238	1.667000	0.50832	0.460000	0.39030	CTG		PASS	0.647	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		20	45	20	45	---	---	---	---
SNAI1	6615	broad.mit.edu	37	20	48600469	48600469	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr20:48600469T>A	ENST00000244050.2	+	2	252	c.191T>A	c.(190-192)gTc>gAc	p.V64D		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	64					cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.V64D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGGGACTCTGTCCTGGCGCCC	0.657																																						uc002xuz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(190-192)GTC>GAC		snail 1 homolog							48.0	52.0	51.0					20																	48600469		2203	4300	6503	SO:0001583	missense	6615				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding	g.chr20:48600469T>A	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.191T>A	20.37:g.48600469T>A	ENSP00000244050:p.Val64Asp						p.V64D	NM_005985	NP_005976	O95863	SNAI1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	261	+			64					B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	c.191T>A	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476648	0.44044	.	.	ENSG00000124216	ENST00000244050	T	0.28454	1.61	4.94	2.45	0.29901	.	1.291250	0.05229	N	0.510021	T	0.19127	0.0459	N	0.14661	0.345	0.09310	N	1	B	0.17667	0.023	B	0.17722	0.019	T	0.13872	-1.0493	10	0.35671	T	0.21	-24.5633	5.9625	0.19307	0.0:0.1093:0.4393:0.4514	.	64	O95863	SNAI1_HUMAN	D	64	ENSP00000244050:V64D	ENSP00000244050:V64D	V	+	2	0	SNAI1	48033876	0.845000	0.29573	0.987000	0.45799	0.937000	0.57800	2.918000	0.48829	1.857000	0.53885	0.455000	0.32223	GTC		PASS	0.657	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1			43	77	43	77	---	---	---	---
PPP1R3D	5509	broad.mit.edu	37	20	58514404	58514404	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr20:58514404C>A	ENST00000370996.3	-	1	948	c.583G>T	c.(583-585)Gtg>Ttg	p.V195L	FAM217B_ENST00000358293.3_Intron|FAM217B_ENST00000360816.3_5'Flank	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	195	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)	p.V195L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			ACGTTGCACACGCGCACCGTA	0.701																																						uc002ybb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)GTG>TTG		protein phosphatase 1, regulatory subunit 3D							25.0	21.0	22.0					20																	58514404		2200	4295	6495	SO:0001583	missense	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514404C>A	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.583G>T	20.37:g.58514404C>A	ENSP00000360035:p.Val195Leu					C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	p.V195L	NM_006242	NP_006233	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	949	-	all_lung(29;0.00391)		195			CBM21.		Q6DK02	Missense_Mutation	SNP	ENST00000370996.3	37	c.583G>T	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132904	0.94517	.	.	ENSG00000132825	ENST00000370996	T	0.76316	-1.01	5.22	5.22	0.72569	Putative phosphatase regulatory subunit (2);	0.000000	0.56097	D	0.000027	D	0.90854	0.7127	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92720	0.6190	10	0.72032	D	0.01	-23.8683	18.7739	0.91902	0.0:1.0:0.0:0.0	.	195	O95685	PPR3D_HUMAN	L	195	ENSP00000360035:V195L	ENSP00000360035:V195L	V	-	1	0	PPP1R3D	57947799	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	7.596000	0.82721	2.432000	0.82394	0.462000	0.41574	GTG		PASS	0.701	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		18	27	18	27	---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28315775	28315775	+	Silent	SNP	A	A	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr21:28315775A>T	ENST00000284987.5	-	3	1450	c.1329T>A	c.(1327-1329)ctT>ctA	p.L443L		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	443	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)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L443L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CAATGCTGGTAAGGATGGAAG	0.453																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1327-1329)CTT>CTA		ADAM metallopeptidase with thrombospondin type 1							124.0	105.0	112.0					21																	28315775		2203	4300	6503	SO:0001819	synonymous_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28315775A>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1329T>A	21.37:g.28315775A>T							p.L443L	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			3	2058	-			443			Peptidase M12B.		Q52LV4|Q9UKP2	Silent	SNP	ENST00000284987.5	37	c.1329T>A	CCDS13579.1																																																																																				PASS	0.453	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			34	75	34	75	---	---	---	---
KRTAP24-1	643803	broad.mit.edu	37	21	31654547	31654547	+	Missense_Mutation	SNP	G	G	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr21:31654547G>T	ENST00000340345.4	-	1	729	c.704C>A	c.(703-705)cCc>cAc	p.P235H		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	235	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.P235H(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AAAGGTACTGGGTATATAGCT	0.428																																						uc002ynv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(703-705)CCC>CAC		keratin associated protein 24-1							93.0	90.0	91.0					21																	31654547		1839	4092	5931	SO:0001583	missense	643803					keratin filament	structural molecule activity	g.chr21:31654547G>T	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.704C>A	21.37:g.31654547G>T	ENSP00000339238:p.Pro235His						p.P235H	NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN			1	730	-			235			6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].|5.		Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	c.704C>A	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272088	0.59649	.	.	ENSG00000188694	ENST00000340345	T	0.33865	1.39	4.41	4.41	0.53225	.	0.334520	0.27294	N	0.020027	T	0.45418	0.1341	L	0.29908	0.895	0.21861	N	0.999507	D	0.76494	0.999	D	0.67548	0.952	T	0.29882	-0.9997	10	0.72032	D	0.01	-4.7905	13.2117	0.59828	0.0:0.0:1.0:0.0	.	235	Q3LI83	KR241_HUMAN	H	235	ENSP00000339238:P235H	ENSP00000339238:P235H	P	-	2	0	KRTAP24-1	30576418	0.140000	0.22579	0.512000	0.27736	0.846000	0.48090	2.564000	0.45931	2.382000	0.81193	0.557000	0.71058	CCC		PASS	0.428	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		97	168	97	168	---	---	---	---
CHAF1B	8208	broad.mit.edu	37	21	37763859	37763859	+	Silent	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr21:37763859C>A	ENST00000314103.5	+	4	421	c.270C>A	c.(268-270)atC>atA	p.I90I	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	90					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)	p.I90I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						ATGCTGTCATCCTATTGTGGA	0.433																																						uc002yvj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(268-270)ATC>ATA		chromatin assembly factor 1 subunit B							92.0	74.0	80.0					21																	37763859		2203	4300	6503	SO:0001819	synonymous_variant	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37763859C>A	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.270C>A	21.37:g.37763859C>A							p.I90I	NM_005441	NP_005432	Q13112	CAF1B_HUMAN			4	408	+			90			WD 2.		Q99548	Silent	SNP	ENST00000314103.5	37	c.270C>A	CCDS13644.1																																																																																				PASS	0.433	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		26	73	26	73	---	---	---	---
XKR3	150165	broad.mit.edu	37	22	17288960	17288960	+	Nonsense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr22:17288960C>A	ENST00000331428.5	-	2	106	c.4G>T	c.(4-6)Gag>Tag	p.E2*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E2*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AACACTGTCTCCATTCTCAGG	0.383																																						uc002zlv.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(4-6)GAG>TAG		X Kell blood group precursor-related family,							72.0	73.0	73.0					22																	17288960		1899	4142	6041	SO:0001587	stop_gained	150165					integral to membrane|plasma membrane		g.chr22:17288960C>A	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.4G>T	22.37:g.17288960C>A	ENSP00000331704:p.Glu2*					XKR3_uc011agf.1_Nonsense_Mutation_p.E2*	p.E2*	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN			2	102	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	2					B2RPN1|Q52PG8|Q8N7E1	Nonsense_Mutation	SNP	ENST00000331428.5	37	c.4G>T	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.248964	0.39797	.	.	ENSG00000172967	ENST00000331428	.	.	.	1.24	-0.18	0.13295	.	55.557100	0.00550	U	0.000248	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	3.8137	0.08806	0.2693:0.464:0.2667:0.0	.	.	.	.	X	2	.	ENSP00000331704:E2X	E	-	1	0	XKR3	15668960	0.010000	0.17322	0.003000	0.11579	0.032000	0.12392	-0.676000	0.05221	-0.241000	0.09681	-0.750000	0.03501	GAG		PASS	0.383	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		83	164	83	164	---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18300435	18300435	+	Silent	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr22:18300435C>T	ENST00000441493.2	-	26	5344	c.4992G>A	c.(4990-4992)aaG>aaA	p.K1664K	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1664					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.K42K(1)|p.K1664K(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGGCTTCATGCTTCAGGGTGG	0.682																																						uc002zng.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(4990-4992)AAG>AAA		microtubule associated monoxygenase, calponin							20.0	23.0	22.0					22																	18300435		1908	4102	6010	SO:0001819	synonymous_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18300435C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4992G>A	22.37:g.18300435C>T						MICAL3_uc011agl.1_Silent_p.K1580K|MICAL3_uc010gre.1_5'Flank	p.K1664K	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	5345	-		all_epithelial(15;0.198)	1664					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	c.4992G>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	4.472	0.087485	0.08583	.	.	ENSG00000093100	ENST00000252134	.	.	.	5.18	3.04	0.35103	.	.	.	.	.	T	0.59891	0.2227	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57213	-0.7850	4	.	.	.	.	10.5067	0.44839	0.0:0.7372:0.0:0.2628	.	.	.	.	N	646	.	.	S	-	2	0	XXbac-B461K10.4	16680435	0.998000	0.40836	0.235000	0.24058	0.569000	0.35902	0.507000	0.22675	1.168000	0.42723	0.561000	0.74099	AGC		PASS	0.682	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			13	17	13	17	---	---	---	---
IGLV3-19	28797	broad.mit.edu	37	22	23063529	23063529	+	RNA	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr22:23063529G>A	ENST00000390309.2	+	0	276									immunoglobulin lambda variable 3-19																		ATCCCAGACCGATTCTCTGGC	0.537																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							63.0	67.0	66.0					22																	23063529		1917	4126	6043			96610							g.chr22:23063529G>A	X56178		22q11.2	2012-02-08			ENSG00000211663	ENSG00000211663		"""Immunoglobulins / IGL locus"""	5903	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151226		22.37:g.23063529G>A														167		+									RNA	SNP	ENST00000390309.2	37	c.9728G>A																																																																																					PASS	0.537	IGLV3-19-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321830.1	NG_000002		32	79	32	79	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26701973	26701973	+	Silent	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr22:26701973C>T	ENST00000248933.6	+	6	1472	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A	SEZ6L_ENST00000403121.1_Silent_p.A232A|SEZ6L_ENST00000529632.2_Silent_p.A459A|SEZ6L_ENST00000360929.3_Silent_p.A459A|SEZ6L_ENST00000402979.1_Silent_p.A232A|SEZ6L_ENST00000404234.3_Silent_p.A459A|SEZ6L_ENST00000343706.4_Silent_p.A459A			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	459	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.A459A(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCACAATGCCACCATCGGCC	0.572																																						uc003acb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1375-1377)GCC>GCT		seizure related 6 homolog (mouse)-like							67.0	62.0	64.0					22																	26701973		2203	4300	6503	SO:0001819	synonymous_variant	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26701973C>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1377C>T	22.37:g.26701973C>T						SEZ6L_uc003acc.2_Silent_p.A459A|SEZ6L_uc011akc.1_Silent_p.A459A|SEZ6L_uc003acd.2_Silent_p.A459A|SEZ6L_uc011akd.1_Silent_p.A459A|SEZ6L_uc003ace.2_Silent_p.A459A|SEZ6L_uc003acf.1_Silent_p.A232A|SEZ6L_uc010gvc.1_Silent_p.A232A	p.A459A	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			6	1533	+			459			CUB 2.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	c.1377C>T	CCDS13833.1																																																																																				PASS	0.572	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			32	70	32	70	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43950942	43950942	+	Missense_Mutation	SNP	C	C	T			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr22:43950942C>T	ENST00000262726.7	-	27	3708	c.3455G>A	c.(3454-3456)gGc>gAc	p.G1152D	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.G1000D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G1152D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGGCGGCGGGCCTTTGGGCAT	0.532																																						uc003bdy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(3454-3456)GGC>GAC		CAP-binding protein complex interacting protein							68.0	63.0	65.0					22																	43950942		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43950942C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3455G>A	22.37:g.43950942C>T	ENSP00000262726:p.Gly1152Asp					EFCAB6_uc003bdz.1_Missense_Mutation_p.G1000D|EFCAB6_uc010gzi.1_Missense_Mutation_p.G1000D|EFCAB6_uc010gzj.1_Missense_Mutation_p.G378D	p.G1152D	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			27	3670	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1152					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.3455G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	8.264	0.811837	0.16537	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.14391	2.51;2.51	4.88	-7.13	0.01532	.	0.776584	0.11562	N	0.551652	T	0.06826	0.0174	L	0.36672	1.1	0.24621	N	0.993674	B;B	0.26258	0.145;0.049	B;B	0.29785	0.107;0.015	T	0.41574	-0.9501	10	0.13108	T	0.6	-3.3448	2.8391	0.05524	0.281:0.1495:0.4177:0.1517	.	1000;1152	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	D	1000;1152	ENSP00000379533:G1000D;ENSP00000262726:G1152D	ENSP00000262726:G1152D	G	-	2	0	EFCAB6	42282275	0.239000	0.23836	0.009000	0.14445	0.076000	0.17211	1.091000	0.30915	-0.857000	0.04115	-0.165000	0.13383	GGC		PASS	0.532	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		71	41	71	41	---	---	---	---
KLHL34	257240	broad.mit.edu	37	X	21675117	21675117	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chrX:21675117G>A	ENST00000379499.2	-	1	1331	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	264						extracellular space (GO:0005615)		p.R264C(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						AGCGGCTGGCGGGAGGGCGTC	0.692																																						uc004czz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(790-792)CGC>TGC		kelch-like 34							16.0	18.0	18.0					X																	21675117		2189	4266	6455	SO:0001583	missense	257240							g.chrX:21675117G>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.790C>T	X.37:g.21675117G>A	ENSP00000368813:p.Arg264Cys						p.R264C	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			1	1332	-			264						Missense_Mutation	SNP	ENST00000379499.2	37	c.790C>T	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	G	8.328	0.825929	0.16749	.	.	ENSG00000185915	ENST00000379499	T	0.74315	-0.83	4.76	3.86	0.44501	.	0.415188	0.23979	N	0.042688	T	0.66587	0.2804	L	0.49126	1.545	0.29827	N	0.830326	D	0.55172	0.97	B	0.40534	0.332	T	0.67654	-0.5615	10	0.66056	D	0.02	.	10.7294	0.46087	0.0:0.0:0.4279:0.5721	.	264	Q8N239	KLH34_HUMAN	C	264	ENSP00000368813:R264C	ENSP00000368813:R264C	R	-	1	0	KLHL34	21585038	0.999000	0.42202	1.000000	0.80357	0.274000	0.26718	1.698000	0.37794	0.948000	0.37687	0.422000	0.28245	CGC		PASS	0.692	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		12	7	12	7	---	---	---	---
MAGEB4	4115	broad.mit.edu	37	X	30260892	30260892	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chrX:30260892T>A	ENST00000378982.2	+	1	836	c.640T>A	c.(640-642)Tgt>Agt	p.C214S	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	214	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.C214S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AAATGGCAACTGTGCCCGTGA	0.507																																						uc004dcb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(640-642)TGT>AGT		melanoma antigen family B, 4							90.0	81.0	84.0					X																	30260892		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260892T>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.640T>A	X.37:g.30260892T>A	ENSP00000368266:p.Cys214Ser					MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.C214S	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	724	+			214			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.640T>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	T	0.150	-1.092057	0.01858	.	.	ENSG00000120289	ENST00000378982	T	0.04234	3.67	3.2	-6.41	0.01938	.	1.026790	0.07853	U	0.964932	T	0.02380	0.0073	N	0.20685	0.6	0.09310	N	1	B	0.23937	0.094	B	0.32393	0.145	T	0.43523	-0.9386	10	0.07644	T	0.81	.	0.5917	0.00729	0.3309:0.248:0.1098:0.3114	.	214	O15481	MAGB4_HUMAN	S	214	ENSP00000368266:C214S	ENSP00000368266:C214S	C	+	1	0	MAGEB4	30170813	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-4.074000	0.00300	-3.344000	0.00182	-0.391000	0.06502	TGT		PASS	0.507	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		99	58	99	58	---	---	---	---
TMEM47	83604	broad.mit.edu	37	X	34657478	34657478	+	Missense_Mutation	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chrX:34657478G>A	ENST00000275954.3	-	2	511	c.253C>T	c.(253-255)Ctc>Ttc	p.L85F		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	85						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L85F(2)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCGCCCAGGAGTAAAGCCAGA	0.448																																						uc004ddh.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(253-255)CTC>TTC		transmembrane protein 47							61.0	53.0	56.0					X																	34657478		2202	4300	6502	SO:0001583	missense	83604					integral to membrane		g.chrX:34657478G>A	AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"""transmembrane 4 superfamily member 10"""	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.253C>T	X.37:g.34657478G>A	ENSP00000275954:p.Leu85Phe					TMEM47_uc010ngs.2_RNA	p.L85F	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN			2	512	-			85			Helical; (Potential).		Q5JR44	Missense_Mutation	SNP	ENST00000275954.3	37	c.253C>T	CCDS14235.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859333	0.51376	.	.	ENSG00000147027	ENST00000275954	T	0.70631	-0.5	5.98	5.06	0.68205	.	0.059888	0.64402	D	0.000002	T	0.70298	0.3208	M	0.68952	2.095	0.80722	D	1	B	0.20052	0.041	B	0.26202	0.067	T	0.70092	-0.4967	10	0.62326	D	0.03	-13.1216	13.9664	0.64211	0.0:0.0:0.8483:0.1517	.	85	Q9BQJ4	TMM47_HUMAN	F	85	ENSP00000275954:L85F	ENSP00000275954:L85F	L	-	1	0	TMEM47	34567399	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.066000	0.50002	2.516000	0.84829	0.538000	0.68166	CTC		PASS	0.448	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056209.1	NM_031442		13	10	13	10	---	---	---	---
IQSEC2	23096	broad.mit.edu	37	X	53277929	53277929	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chrX:53277929C>A	ENST00000375368.5	-	5	2603	c.2403G>T	c.(2401-2403)caG>caT	p.Q801H	IQSEC2_ENST00000396435.3_Missense_Mutation_p.Q811H|IQSEC2_ENST00000375365.2_Missense_Mutation_p.Q606H			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	801	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.Q811H(1)|p.Q808H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TGAACTGCTTCTGCCGGTTCC	0.607																																						uc004dsd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2431-2433)CAG>CAT		IQ motif and Sec7 domain 2 isoform1							99.0	75.0	83.0					X																	53277929		2203	4300	6503	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53277929C>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.2403G>T	X.37:g.53277929C>A	ENSP00000364517:p.Gln801His					IQSEC2_uc004dsc.2_Missense_Mutation_p.Q606H	p.Q811H	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN			6	2634	-			801			SEC7.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.2433G>T		.	.	.	.	.	.	.	.	.	.	C	15.84	2.953085	0.53293	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.55413	0.52;0.52;0.52	5.6	4.55	0.56014	.	0.058884	0.64402	D	0.000002	T	0.60534	0.2276	L	0.39397	1.21	0.58432	D	0.999995	B;D	0.71674	0.104;0.998	B;D	0.80764	0.273;0.994	T	0.60984	-0.7154	10	0.54805	T	0.06	.	9.6993	0.40175	0.0:0.8155:0.0:0.1845	.	811;606	Q5JU85-2;Q5JU85-3	.;.	H	811;801;606	ENSP00000379712:Q811H;ENSP00000364517:Q801H;ENSP00000364514:Q606H	ENSP00000364514:Q606H	Q	-	3	2	IQSEC2	53294654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.684000	0.46951	2.369000	0.80426	0.529000	0.55759	CAG		PASS	0.607	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		5	127	5	127	---	---	---	---
GDPD2	54857	broad.mit.edu	37	X	69647202	69647202	+	Silent	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chrX:69647202C>A	ENST00000374382.3	+	10	1076	c.825C>A	c.(823-825)ctC>ctA	p.L275L	GDPD2_ENST00000453994.2_Silent_p.L275L|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Silent_p.L196L|GDPD2_ENST00000536730.1_Silent_p.L196L	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	275	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.L275L(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					ATGAGCACCTCAGCAGGACCA	0.567																																						uc004dyh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(823-825)CTC>CTA		osteoblast differentiation promoting factor							96.0	68.0	77.0					X																	69647202		2203	4300	6503	SO:0001819	synonymous_variant	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69647202C>A	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.825C>A	X.37:g.69647202C>A						GDPD2_uc010nkx.1_Intron|GDPD2_uc010nky.1_Silent_p.L61L|GDPD2_uc011mpk.1_Silent_p.L275L|GDPD2_uc011mpl.1_Silent_p.L196L|GDPD2_uc011mpm.1_Silent_p.L196L	p.L275L	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN			10	1076	+	Renal(35;0.156)		275			GDPD.|Extracellular (Potential).		B4DRH4|B4DVC9|Q9NXJ6	Silent	SNP	ENST00000374382.3	37	c.825C>A	CCDS14402.1																																																																																				PASS	0.567	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		59	28	59	28	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76937345	76937345	+	Missense_Mutation	SNP	T	T	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chrX:76937345T>A	ENST00000373344.5	-	9	3617	c.3403A>T	c.(3403-3405)Agg>Tgg	p.R1135W	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1097W	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1135					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1135W(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTTCTTTCCCTCAATTCTATT	0.323			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - Missense(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(3403-3405)AGG>TGG		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						77.0	79.0	78.0					X																	76937345		2203	4292	6495	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937345T>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3403A>T	X.37:g.76937345T>A	ENSP00000362441:p.Arg1135Trp					ATRX_uc004ecq.3_Missense_Mutation_p.R1097W|ATRX_uc004eco.3_Missense_Mutation_p.R920W|ATRX_uc004ecr.2_Missense_Mutation_p.R1067W|ATRX_uc010nlx.1_Missense_Mutation_p.R1106W|ATRX_uc010nly.1_Missense_Mutation_p.R1080W	p.R1135W	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	3635	-			1135					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3403A>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752124	0.31046	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93488	-3.23;-3.23	5.51	2.88	0.33553	.	0.442741	0.24345	N	0.039329	D	0.92821	0.7717	L	0.32530	0.975	0.21105	N	0.99979	P;D;P;P	0.59357	0.833;0.985;0.771;0.833	P;P;P;P	0.60886	0.581;0.88;0.682;0.581	D	0.86416	0.1751	10	0.72032	D	0.01	-4.127	10.9226	0.47174	0.0:0.0:0.3124:0.6876	.	1135;1067;1097;1135	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	W	1135;1097;1062	ENSP00000362441:R1135W;ENSP00000378967:R1097W	ENSP00000362441:R1135W	R	-	1	2	ATRX	76824001	0.003000	0.15002	0.827000	0.32855	0.995000	0.86356	1.179000	0.31993	0.692000	0.31613	0.417000	0.27973	AGG		PASS	0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		146	72	146	72	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79999572	79999572	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chrX:79999572C>A	ENST00000373275.4	-	8	988	c.772G>T	c.(772-774)Gca>Tca	p.A258S		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	258					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.A258S(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGAAGGACTGCAACGGGTGCA	0.388																																						uc004edt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(772-774)GCA>TCA		bromodomain and WD repeat domain containing 3							124.0	106.0	112.0					X																	79999572		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79999572C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.772G>T	X.37:g.79999572C>A	ENSP00000362372:p.Ala258Ser					BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.A87S|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	p.A258S	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			8	1035	-			258			WD 3.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.772G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176812	0.78564	.	.	ENSG00000165288	ENST00000373275	T	0.60797	0.16	4.42	4.42	0.53409	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.705113	0.13811	N	0.361111	T	0.59197	0.2176	L	0.31207	0.915	0.37834	D	0.928827	P	0.50272	0.933	P	0.53102	0.718	T	0.60073	-0.7334	9	.	.	.	-13.6149	16.6562	0.85229	0.0:1.0:0.0:0.0	.	258	Q6RI45	BRWD3_HUMAN	S	258	ENSP00000362372:A258S	.	A	-	1	0	BRWD3	79886228	0.983000	0.35010	1.000000	0.80357	0.986000	0.74619	2.364000	0.44187	2.193000	0.70182	0.415000	0.27848	GCA		PASS	0.388	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		98	92	98	92	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91134266	91134266	+	Silent	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chrX:91134266C>G	ENST00000373094.1	+	2	3872	c.3027C>G	c.(3025-3027)acC>acG	p.T1009T	PCDH11X_ENST00000504220.2_Silent_p.T1009T|PCDH11X_ENST00000373088.1_Silent_p.T1009T|PCDH11X_ENST00000361655.2_Silent_p.T1009T|PCDH11X_ENST00000395337.2_Silent_p.T1009T|PCDH11X_ENST00000298274.8_Silent_p.T1009T|PCDH11X_ENST00000361724.1_Silent_p.T1009T|PCDH11X_ENST00000406881.1_Silent_p.T1009T|PCDH11X_ENST00000373097.1_Silent_p.T1009T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1009					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.T1009T(3)		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						CCGTACACACCAGACCGGTAG	0.398																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(2)	2						c.(3025-3027)ACC>ACG		protocadherin 11 X-linked isoform c							131.0	108.0	116.0					X																	91134266		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134266C>G	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.3027C>G	X.37:g.91134266C>G						PCDH11X_uc004efl.1_Silent_p.T1009T|PCDH11X_uc004efo.1_Silent_p.T1009T|PCDH11X_uc010nmv.1_Silent_p.T1009T|PCDH11X_uc004efm.1_Silent_p.T1009T|PCDH11X_uc004efn.1_Silent_p.T1009T|PCDH11X_uc004efh.1_Silent_p.T1009T|PCDH11X_uc004efj.1_Silent_p.T1009T	p.T1009T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3872	+			1009			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.3027C>G	CCDS14461.1																																																																																				PASS	0.398	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		128	130	128	130	---	---	---	---
TMEM164	84187	broad.mit.edu	37	X	109388078	109388078	+	Missense_Mutation	SNP	T	T	C			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chrX:109388078T>C	ENST00000372073.1	+	5	896	c.560T>C	c.(559-561)gTa>gCa	p.V187A	TMEM164_ENST00000288381.4_Missense_Mutation_p.V148A|TMEM164_ENST00000372072.3_Missense_Mutation_p.V38A|TMEM164_ENST00000372068.2_Missense_Mutation_p.V187A			Q5U3C3	TM164_HUMAN	transmembrane protein 164	187						integral component of membrane (GO:0016021)		p.V187A(1)|p.V148A(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CTCTACGTGGTACCCATCTAC	0.473																																						uc004eom.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|lung(1)|skin(1)	3						c.(559-561)GTA>GCA		transmembrane protein 164 isoform b							189.0	140.0	157.0					X																	109388078		2203	4300	6503	SO:0001583	missense	84187					integral to membrane		g.chrX:109388078T>C	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.560T>C	X.37:g.109388078T>C	ENSP00000361143:p.Val187Ala					TMEM164_uc004eol.2_Missense_Mutation_p.V38A|TMEM164_uc010npq.2_Missense_Mutation_p.V148A	p.V187A	NM_032227	NP_115603	Q5U3C3	TM164_HUMAN			5	879	+			187			Helical; (Potential).		B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	c.560T>C	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	T	22.1	4.239103	0.79800	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	L	0.52905	1.665	0.80722	D	1	D;D	0.69078	0.997;0.997	D;P	0.68353	0.957;0.879	T	0.69209	-0.5205	10	0.87932	D	0	-7.4666	12.2665	0.54681	0.0:0.0:0.0:1.0	.	148;187	Q9H617;Q5U3C3	.;TM164_HUMAN	A	38;187;187;148;148	ENSP00000384075:V38A;ENSP00000361143:V187A;ENSP00000361138:V187A;ENSP00000288381:V148A	ENSP00000288381:V148A	V	+	2	0	TMEM164	109274734	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.717000	0.68446	1.883000	0.54544	0.486000	0.48141	GTA		PASS	0.473	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		6	157	6	157	---	---	---	---
SAGE1	55511	broad.mit.edu	37	X	134989135	134989135	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chrX:134989135C>A	ENST00000370709.3	+	7	787	c.787C>A	c.(787-789)Ccc>Acc	p.P263T	SAGE1_ENST00000324447.3_Missense_Mutation_p.P263T|SAGE1_ENST00000535938.1_Missense_Mutation_p.P263T|SAGE1_ENST00000537770.1_Intron			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	263						nucleus (GO:0005634)		p.P263T(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAAGGGCCAACCCCAACCTGA	0.463																																						uc004ezh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(787-789)CCC>ACC		sarcoma antigen 1							143.0	114.0	124.0					X																	134989135		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134989135C>A	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.787C>A	X.37:g.134989135C>A	ENSP00000359743:p.Pro263Thr					SAGE1_uc010nry.1_Missense_Mutation_p.P232T|SAGE1_uc011mvv.1_Intron	p.P263T	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			8	954	+	Acute lymphoblastic leukemia(192;0.000127)		263					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.787C>A	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	-	4.754	0.140218	0.09083	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.33654	1.4;1.4;1.4	1.76	-1.04	0.10068	.	0.000000	0.85682	U	0.000000	T	0.14614	0.0353	N	0.12182	0.205	0.09310	N	1	B	0.30361	0.277	B	0.36534	0.227	T	0.24404	-1.0161	10	0.07990	T	0.79	.	2.3216	0.04212	0.4629:0.3177:0.2194:0.0	.	263	Q9NXZ1	SAGE1_HUMAN	T	263	ENSP00000323191:P263T;ENSP00000445959:P263T;ENSP00000359743:P263T	ENSP00000323191:P263T	P	+	1	0	SAGE1	134816801	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.030000	0.12308	-0.346000	0.08312	0.171000	0.16805	CCC		PASS	0.463	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		188	133	188	133	---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138882219	138882219	+	Splice_Site	SNP	C	C	G			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chrX:138882219C>G	ENST00000327569.3	-	8	817	c.719G>C	c.(718-720)aGg>aCg	p.R240T	ATP11C_ENST00000361648.2_Splice_Site_p.R240T|ATP11C_ENST00000359686.2_Splice_Site_p.R240T|ATP11C_ENST00000370543.1_Splice_Site_p.R240T|ATP11C_ENST00000370557.1_Splice_Site_p.R237T|ATP11C_ENST00000460773.1_5'Flank	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	240					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R240T(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GCAAACTTACCTGGCAACAGC	0.353																																						uc004faz.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(3)	8						c.(718-720)AGG>ACG		ATPase, class VI, type 11C isoform a							67.0	62.0	63.0					X																	138882219		2203	4300	6503	SO:0001630	splice_region_variant	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138882219C>G	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.719+1G>C	X.37:g.138882219C>G						ATP11C_uc004fay.2_5'Flank|ATP11C_uc004fba.2_Missense_Mutation_p.R240T	p.R240T	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			8	818	-	Acute lymphoblastic leukemia(192;0.000127)		240			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.719G>C	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299679	0.60195	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.88	5.88	0.94601	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.088079	0.85682	D	0.000000	D	0.90342	0.6978	L	0.37561	1.115	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.979;0.988	D	0.89134	0.3512	9	.	.	.	.	17.9971	0.89187	0.0:1.0:0.0:0.0	.	240;240	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	T	237;240;240;240;240	ENSP00000359588:R237T;ENSP00000355165:R240T;ENSP00000332756:R240T;ENSP00000359574:R240T;ENSP00000352715:R240T	.	R	-	2	0	ATP11C	138709885	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.677000	0.74503	2.471000	0.83476	0.600000	0.82982	AGG		PASS	0.353	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	Missense_Mutation	66	40	66	40	---	---	---	---
SPANXN2	494119	broad.mit.edu	37	X	142795397	142795397	+	Missense_Mutation	SNP	C	C	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chrX:142795397C>A	ENST00000370498.1	-	2	1034	c.281G>T	c.(280-282)gGa>gTa	p.G94V		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	94								p.G94V(1)|p.I76I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGAAGATCCTTCAGCTGA	0.502																																						uc004fbz.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(280-282)GGA>GTA		SPANX-N2 protein							328.0	296.0	307.0					X																	142795397		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795397C>A		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.281G>T	X.37:g.142795397C>A	ENSP00000359529:p.Gly94Val						p.G94V	NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN			2	1035	-	Acute lymphoblastic leukemia(192;6.56e-05)		94					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.281G>T	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.261648	0.00262	.	.	ENSG00000203924	ENST00000370498	T	0.07021	3.23	0.628	-1.26	0.09376	.	.	.	.	.	T	0.03783	0.0107	L	0.36672	1.1	0.09310	N	1	P	0.42456	0.78	B	0.33454	0.164	T	0.39563	-0.9608	8	0.11182	T	0.66	.	.	.	.	.	94	Q5MJ10	SPXN2_HUMAN	V	94	ENSP00000359529:G94V	ENSP00000359529:G94V	G	-	2	0	SPANXN2	142623063	0.993000	0.37304	0.000000	0.03702	0.000000	0.00434	1.462000	0.35266	-2.912000	0.00307	-3.171000	0.00057	GGA		PASS	0.502	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		389	319	389	319	---	---	---	---
GAB3	139716	broad.mit.edu	37	X	153940970	153940970	+	Silent	SNP	G	G	A			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chrX:153940970G>A	ENST00000369575.3	-	4	631	c.600C>T	c.(598-600)ccC>ccT	p.P200P	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Silent_p.P201P	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	200					macrophage differentiation (GO:0030225)			p.P200P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACATCTGGTGGGTAGACTGG	0.502																																						uc004fmj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(598-600)CCC>CCT		Gab3 protein isoform 2							44.0	40.0	42.0					X																	153940970		2203	4299	6502	SO:0001819	synonymous_variant	139716							g.chrX:153940970G>A	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.600C>T	X.37:g.153940970G>A						GAB3_uc004fmk.1_Silent_p.P201P|GAB3_uc010nve.1_Silent_p.P201P|GAB3_uc004fml.1_Intron	p.P200P	NM_080612	NP_542179	Q8WWW8	GAB3_HUMAN			4	648	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		200					A6NHF8|E9PB44	Silent	SNP	ENST00000369575.3	37	c.600C>T	CCDS14760.1																																																																																				PASS	0.502	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		18	47	18	47	---	---	---	---
SLC30A10	55532	broad.mit.edu	37	1	220091756	220091756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr1:220091756delG	ENST00000366926.3	-	3	960	c.799delC	c.(799-801)ctgfs	p.L267fs	SLC30A10_ENST00000536446.1_Frame_Shift_Del_p.L22fs|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	267					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TCACTCTTCAGGGGAAGCACA	0.507																																					Colon(76;360 1614 43677 51136)	uc001hlw.2																			0					0						c.(799-801)CTGfs		solute carrier family 30 (zinc transporter),							163.0	144.0	150.0					1																	220091756		2203	4300	6503	SO:0001589	frameshift_variant	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220091756delG	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.799delC	1.37:g.220091756delG	ENSP00000355893:p.Leu267fs					SLC30A10_uc001hlu.1_RNA|SLC30A10_uc001hlv.2_Frame_Shift_Del_p.L22fs|SLC30A10_uc001hlx.2_Frame_Shift_Del_p.L42fs	p.L267fs	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	3	1010	-			267			Extracellular (Potential).		Q49AL9|Q9NPW0	Frame_Shift_Del	DEL	ENST00000366926.3	37	c.799delC	CCDS31026.1																																																																																					0.507	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		326	162	326	162	---	---	---	---
TRPC3	7222	broad.mit.edu	37	4	122833102	122833102	+	Frame_Shift_Del	DEL	G	G	-	rs371756257		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr4:122833102delG	ENST00000379645.3	-	5	1561	c.1488delC	c.(1486-1488)cccfs	p.P496fs	TRPC3_ENST00000513531.1_Frame_Shift_Del_p.P368fs|TRPC3_ENST00000264811.5_Frame_Shift_Del_p.P423fs	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	411					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGATCTGTTTGGGATAGTCAG	0.418																																						uc003ieg.2																			0				ovary(2)	2						c.(1486-1488)CCCfs		transient receptor potential cation channel,							125.0	122.0	123.0					4																	122833102		2203	4300	6503	SO:0001589	frameshift_variant	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122833102delG	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1488delC	4.37:g.122833102delG	ENSP00000368966:p.Pro496fs					TRPC3_uc010inr.2_Frame_Shift_Del_p.P368fs|TRPC3_uc003ief.2_Frame_Shift_Del_p.P423fs|TRPC3_uc011cgl.1_Frame_Shift_Del_p.P160fs	p.P496fs	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN			5	1562	-			411			Cytoplasmic (Potential).		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Frame_Shift_Del	DEL	ENST00000379645.3	37	c.1488delC	CCDS47130.1																																																																																					0.418	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		114	121	114	121	---	---	---	---
ZFP42	132625	broad.mit.edu	37	4	188924487	188924487	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr4:188924487delC	ENST00000326866.4	+	4	934	c.526delC	c.(526-528)cccfs	p.P177fs	ZFP42_ENST00000509524.1_Frame_Shift_Del_p.P177fs	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	177					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TAGAAAGAAGCCCCCCATAAA	0.468																																						uc003izg.1																			0				ovary(1)|skin(1)	2						c.(526-528)CCCfs		zinc finger protein 42							97.0	109.0	105.0					4																	188924487		2203	4300	6503	SO:0001589	frameshift_variant	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924487delC	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.526delC	4.37:g.188924487delC	ENSP00000317686:p.Pro177fs					ZFP42_uc003izh.1_Frame_Shift_Del_p.P176fs|ZFP42_uc003izi.1_Frame_Shift_Del_p.P176fs	p.P176fs	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	771	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	176					D3DP65|Q8WXE2	Frame_Shift_Del	DEL	ENST00000326866.4	37	c.526delC	CCDS3849.1																																																																																					0.468	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		177	187	177	187	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	55925758	55925758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr6:55925758delC	ENST00000244728.5	-	26	2680	c.2283delG	c.(2281-2283)gggfs	p.G761fs	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Frame_Shift_Del_p.G758fs|COL21A1_ENST00000370808.2_Frame_Shift_Del_p.G161fs|COL21A1_ENST00000535941.1_Frame_Shift_Del_p.G761fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	761	Collagen-like 5.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GACCTGCGGGCCCCATCAAGC	0.517																																						uc003pcs.2																			0				ovary(2)	2						c.(2281-2283)GGGfs		collagen, type XXI, alpha 1 precursor							49.0	49.0	49.0					6																	55925758		1863	4089	5952	SO:0001589	frameshift_variant	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55925758delC	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2283delG	6.37:g.55925758delC	ENSP00000244728:p.Gly761fs					COL21A1_uc010jzz.2_Frame_Shift_Del_p.G146fs|COL21A1_uc011dxg.1_Frame_Shift_Del_p.G134fs|COL21A1_uc011dxh.1_Frame_Shift_Del_p.G146fs|COL21A1_uc003pcr.2_Frame_Shift_Del_p.G118fs	p.G761fs	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		26	2515	-	Lung NSC(77;0.0483)		761			Collagen-like 5.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Frame_Shift_Del	DEL	ENST00000244728.5	37	c.2283delG	CCDS55025.1																																																																																					0.517	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			78	50	78	50	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116616283	116616303	+	In_Frame_Del	DEL	TCAGGGGTGGTGAATGAACAC	TCAGGGGTGGTGAATGAACAC	-	rs13282485|rs13249097|rs369903440	byFrequency	TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr8:116616283_116616303delTCAGGGGTGGTGAATGAACAC	ENST00000220888.5	-	3	2013_2033	c.1854_1874delGTGTTCATTCACCACCCCTGA	c.(1852-1875)cagtgttcattcaccacccctgac>cac	p.618_625QCSFTTPD>H	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_In_Frame_Del_p.618_625QCSFTTPD>H|TRPS1_ENST00000520276.1_In_Frame_Del_p.622_629QCSFTTPD>H|TRPS1_ENST00000395715.3_In_Frame_Del_p.631_638QCSFTTPD>H			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	618					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TACATCTACGTCAGGGGTGGTGAATGAACACTGATGGCACT	0.493									Langer-Giedion syndrome																													uc003ynz.2																			0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1852-1875)CAGTGTTCATTCACCACCCCTGAC>CAC		zinc finger transcription factor TRPS1																																				SO:0001651	inframe_deletion	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616283_116616303delTCAGGGGTGGTGAATGAACAC	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1854_1874delGTGTTCATTCACCACCCCTGA	8.37:g.116616283_116616303delTCAGGGGTGGTGAATGAACAC	ENSP00000220888:p.Gln618_Asp625delinsHis					TRPS1_uc011lhy.1_In_Frame_Del_p.622_629QCSFTTPD>H|TRPS1_uc003yny.2_In_Frame_Del_p.631_638QCSFTTPD>H|TRPS1_uc010mcy.2_In_Frame_Del_p.618_625QCSFTTPD>H	p.618_625QCSFTTPD>H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	2313_2333	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		618_625			C2H2-type 3; atypical.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	In_Frame_Del	DEL	ENST00000220888.5	37	c.1854_1874delGTGTTCATTCACCACCCCTGA																																																																																						0.493	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		68	31	68	31	---	---	---	---
RRAS2	22800	broad.mit.edu	37	11	14380349	14380349	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr11:14380349delC	ENST00000256196.4	-	1	381	c.68delG	c.(67-69)ggcfs	p.G24fs	RRAS2_ENST00000545643.1_Frame_Shift_Del_p.G24fs|RRAS2_ENST00000537760.1_Intron|RRAS2_ENST00000526063.1_5'Flank|RRAS2_ENST00000532814.1_5'Flank|RRAS2_ENST00000529237.1_Intron			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	24					osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		GCCCACGCCGCCCCCGCCGAC	0.766																																						uc001mlf.3																			0				breast(1)	1						c.(67-69)GGCfs		related RAS viral (r-ras) oncogene homolog 2							7.0	9.0	9.0					11																	14380349		1829	3752	5581	SO:0001589	frameshift_variant	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14380349delC	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.68delG	11.37:g.14380349delC	ENSP00000256196:p.Gly24fs					RRAS2_uc009ygq.2_5'Flank|RRAS2_uc010rco.1_Frame_Shift_Del_p.G23fs	p.G23fs	NM_012250	NP_036382	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	1	381	-			23			GTP.		B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Frame_Shift_Del	DEL	ENST00000256196.4	37	c.68delG	CCDS7814.1																																																																																					0.766	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		5	7	5	7	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546395	11546395	+	Frame_Shift_Del	DEL	G	G	-	rs11054277	byFrequency	TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr12:11546395delG	ENST00000389362.4	-	3	652	c.617delC	c.(616-618)ccafs	p.P206fs	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	206	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.P185Q(1)|p.P206Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCCTCCTTGTGGGGGTGGTCC	0.602																																						uc010shk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(616-618)CCAfs		proline-rich protein BstNI subfamily 2							68.0	78.0	75.0					12																	11546395		2075	4125	6200	SO:0001589	frameshift_variant	653247							g.chr12:11546395delG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.617delC	12.37:g.11546395delG	ENSP00000374013:p.Pro206fs						p.P206fs	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	652	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Frame_Shift_Del	DEL	ENST00000389362.4	37	c.617delC	CCDS41757.2																																																																																					0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		305	240	305	240	---	---	---	---
EDNRB	1910	broad.mit.edu	37	13	78474726	78474726	+	Frame_Shift_Del	DEL	G	G	-			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr13:78474726delG	ENST00000334286.5	-	5	1251	c.1015delC	c.(1015-1017)cttfs	p.L339fs	EDNRB_ENST00000446573.1_Frame_Shift_Del_p.L339fs|EDNRB_ENST00000377211.4_Frame_Shift_Del_p.L429fs	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	339					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CTGAGGTGAAGGGGAAGCCAG	0.433																																						uc001vko.2																			0					0						c.(1015-1017)CTTfs		endothelin receptor type B isoform 1 precursor	Bosentan(DB00559)						87.0	94.0	91.0					13																	78474726		2203	4300	6503	SO:0001589	frameshift_variant	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78474726delG	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.1015delC	13.37:g.78474726delG	ENSP00000335311:p.Leu339fs					EDNRB_uc001vkq.1_Frame_Shift_Del_p.L339fs|uc001vkn.1_Intron|EDNRB_uc010aez.1_Frame_Shift_Del_p.L339fs|EDNRB_uc001vkp.1_Frame_Shift_Del_p.L422fs	p.L339fs	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	5	1273	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	339			Helical; Name=6; (Potential).		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Frame_Shift_Del	DEL	ENST00000334286.5	37	c.1015delC	CCDS9461.1																																																																																					0.433	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			85	42	85	42	---	---	---	---
RBL2	5934	broad.mit.edu	37	16	53524205	53524205	+	Frame_Shift_Del	DEL	C	C	-			TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr16:53524205delC	ENST00000262133.6	+	22	3550	c.3413delC	c.(3412-3414)tccfs	p.S1138fs	RBL2_ENST00000544545.1_Frame_Shift_Del_p.S517fs|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1138					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GACCGTGGTTCCCACTGAGGT	0.403																																						uc002ehi.3																			0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(3412-3414)TCCfs		retinoblastoma-like 2 (p130)							103.0	100.0	101.0					16																	53524205		2198	4300	6498	SO:0001589	frameshift_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53524205delC	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3413delC	16.37:g.53524205delC	ENSP00000262133:p.Ser1138fs					RBL2_uc002ehj.2_Frame_Shift_Del_p.S848fs|RBL2_uc010vgw.1_Frame_Shift_Del_p.S517fs	p.S1138fs	NM_005611	NP_005602	Q08999	RBL2_HUMAN			22	3531	+			1138					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Frame_Shift_Del	DEL	ENST00000262133.6	37	c.3413delC	CCDS10748.1																																																																																					0.403	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		282	158	282	158	---	---	---	---
SBSN	374897	broad.mit.edu	37	19	36017741	36017741	+	Frame_Shift_Del	DEL	G	G	-	rs373073485		TCGA-37-4141-01A-02D-1352-08	TCGA-37-4141-10A-01D-1352-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3d4f4555-d71a-4c7d-8667-c42dcc20c076	ce965afc-6c45-495a-aeb9-a14fb76b067e	g.chr19:36017741delG	ENST00000452271.2	-	1	1471	c.1443delC	c.(1441-1443)cacfs	p.H481fs	SBSN_ENST00000518157.1_Frame_Shift_Del_p.H138fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	481	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGACCCCAGTGTGGAACCCTT	0.597																																						uc002oae.1																			0				ovary(1)	1						c.(412-414)CACfs		suprabasin isoform 2 precursor							95.0	81.0	86.0					19																	36017741		2203	4300	6503	SO:0001589	frameshift_variant	374897					extracellular region		g.chr19:36017741delG	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1443delC	19.37:g.36017741delG	ENSP00000430242:p.His481fs					SBSN_uc002oad.1_Frame_Shift_Del_p.H481fs	p.H138fs	NM_198538	NP_940940	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	484	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		138			Ala/Gly/His-rich.		A8K5J0|E9PBV3	Frame_Shift_Del	DEL	ENST00000452271.2	37	c.414delC	CCDS54253.1																																																																																					0.597	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		39	47	39	47	---	---	---	---
