#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
TPRG1L	127262	broad.mit.edu	37	1	3544178	3544178	+	Silent	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:3544178G>T	ENST00000378344.2	+	4	656	c.585G>T	c.(583-585)ccG>ccT	p.P195P	RP11-46F15.2_ENST00000435049.1_RNA|TPRG1L_ENST00000344579.5_Silent_p.P136P	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	195						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)		p.P195P(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CAGAACACCCGATGGCTGGCG	0.532																																						uc001akm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(583-585)CCG>CCT		tumor protein p63 regulated 1-like							142.0	143.0	143.0					1																	3544178		2203	4300	6503	SO:0001819	synonymous_variant	127262					cell junction|synaptic vesicle		g.chr1:3544178G>T	BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"""family with sequence similarity 79, member A"""	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.585G>T	1.37:g.3544178G>T						TPRG1L_uc009vlj.2_Silent_p.P136P	p.P195P	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)	4	666	+	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	195					A8K1K4|Q8WV04	Silent	SNP	ENST00000378344.2	37	c.585G>T	CCDS47.1																																																																																				PASS	0.532	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001466.1	NM_182752		13	49	13	49	---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14108874	14108874	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:14108874G>T	ENST00000235372.7	+	8	5440	c.4584G>T	c.(4582-4584)caG>caT	p.Q1528H	PRDM2_ENST00000413440.1_Missense_Mutation_p.Q1327H|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.Q1327H|PRDM2_ENST00000311066.5_Missense_Mutation_p.Q1528H|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q1528H(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAAGCATGCAGACTCCGTTGG	0.537																																						uc001avi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4582-4584)CAG>CAT		retinoblastoma protein-binding zinc finger							65.0	72.0	69.0					1																	14108874		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108874G>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4584G>T	1.37:g.14108874G>T	ENSP00000235372:p.Gln1528His					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.Q1528H|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.Q1327H|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.Q1528H	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	5440	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1528					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.4584G>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269364	0.40095	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01665	4.81;4.7;4.7;4.7	5.98	4.97	0.65823	.	0.414731	0.27744	N	0.018032	T	0.04861	0.0131	L	0.57536	1.79	0.28288	N	0.923696	D;B;P	0.61697	0.99;0.412;0.547	P;B;B	0.53593	0.73;0.188;0.346	T	0.20338	-1.0278	10	0.36615	T	0.2	.	12.0083	0.53272	0.1122:0.0:0.8878:0.0	.	1386;1528;1528	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	H	1528;1528;1528;1327;1327	ENSP00000235372:Q1528H;ENSP00000312352:Q1528H;ENSP00000411103:Q1327H;ENSP00000341621:Q1327H	ENSP00000235372:Q1528H	Q	+	3	2	PRDM2	13981461	0.995000	0.38212	1.000000	0.80357	0.922000	0.55478	1.365000	0.34182	2.837000	0.97791	0.591000	0.81541	CAG		PASS	0.537	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		27	23	27	23	---	---	---	---
MUL1	79594	broad.mit.edu	37	1	20827763	20827763	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:20827763T>G	ENST00000264198.3	-	4	615	c.479A>C	c.(478-480)cAc>cCc	p.H160P		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	160					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H160P(1)		endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AATCGAGGGGTGGAACTTCTC	0.597																																						uc001bdi.3																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)CAC>CCC		mitochondrial ubiquitin ligase activator of NFKB							94.0	95.0	95.0					1																	20827763		2203	4300	6503	SO:0001583	missense	79594				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:20827763T>G	BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.479A>C	1.37:g.20827763T>G	ENSP00000264198:p.His160Pro						p.H160P	NM_024544	NP_078820	Q969V5	MUL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	4	636	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	160			Mitochondrial intermembrane (Potential).		B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	ENST00000264198.3	37	c.479A>C	CCDS208.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298524	0.81025	.	.	ENSG00000090432	ENST00000264198	T	0.23552	1.9	6.17	6.17	0.99709	.	0.040549	0.85682	D	0.000000	T	0.47857	0.1468	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.42241	-0.9463	10	0.56958	D	0.05	-39.1104	14.7743	0.69713	0.0:0.0:0.0:1.0	.	160	Q969V5	MUL1_HUMAN	P	160	ENSP00000264198:H160P	ENSP00000264198:H160P	H	-	2	0	MUL1	20700350	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.693000	0.84214	2.371000	0.80710	0.533000	0.62120	CAC		PASS	0.597	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007951.1	NM_024544		4	47	4	47	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	41979252	41979252	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:41979252C>A	ENST00000372583.1	-	8	6525	c.5640G>T	c.(5638-5640)gaG>gaT	p.E1880D	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E1880D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E1880D|HIVEP3_ENST00000372584.1_Missense_Mutation_p.E1880D	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1880					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.E1880D(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)				GCGGGGGCGCCTCTGAGGATG	0.652																																						uc001cgz.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(5638-5640)GAG>GAT		human immunodeficiency virus type I enhancer							33.0	39.0	37.0					1																	41979252		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41979252C>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.5640G>T	1.37:g.41979252C>A	ENSP00000361664:p.Glu1880Asp					HIVEP3_uc001cha.3_Missense_Mutation_p.E1880D|HIVEP3_uc001cgy.2_RNA	p.E1880D	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			8	6853	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1880					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.5640G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663176	0.47572	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06142	3.35;3.34;3.34;3.35	5.52	3.42	0.39159	.	0.291939	0.24727	N	0.036097	T	0.04815	0.0130	L	0.27053	0.805	0.29196	N	0.875517	B;B	0.24317	0.101;0.061	B;B	0.22601	0.04;0.018	T	0.25082	-1.0142	10	0.27082	T	0.32	-12.1926	9.4125	0.38500	0.0:0.7452:0.0:0.2548	.	1880;1880	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	D	1880	ENSP00000361665:E1880D;ENSP00000361664:E1880D;ENSP00000247584:E1880D;ENSP00000410828:E1880D	ENSP00000247584:E1880D	E	-	3	2	HIVEP3	41751839	0.552000	0.26505	0.907000	0.35723	0.423000	0.31445	0.629000	0.24538	1.329000	0.45376	-0.140000	0.14226	GAG		PASS	0.652	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		13	9	13	9	---	---	---	---
TMEM125	128218	broad.mit.edu	37	1	43738664	43738664	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:43738664G>A	ENST00000432792.2	+	4	841	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	TMEM125_ENST00000439858.1_Missense_Mutation_p.V91M			Q96AQ2	TM125_HUMAN	transmembrane protein 125	91						integral component of membrane (GO:0016021)		p.V91M(1)		breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGCTCGGCTGTGCAGGACAT	0.637																																						uc001cir.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(271-273)GTG>ATG		transmembrane protein 125							41.0	38.0	39.0					1																	43738664		2203	4300	6503	SO:0001583	missense	128218					integral to membrane		g.chr1:43738664G>A	BC016858	CCDS480.1	1p34.2	2006-02-16			ENSG00000179178	ENSG00000179178			28275	protein-coding gene	gene with protein product							Standard	NM_144626		Approved	MGC17299	uc021oml.1	Q96AQ2	OTTHUMG00000007288	ENST00000432792.2:c.271G>A	1.37:g.43738664G>A	ENSP00000429275:p.Val91Met					EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Missense_Mutation_p.V91M	p.V91M	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN			4	841	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	91					D3DPX1	Missense_Mutation	SNP	ENST00000432792.2	37	c.271G>A	CCDS480.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288451	0.59976	.	.	ENSG00000179178	ENST00000439858;ENST00000432792	T;T	0.55234	0.53;0.53	5.24	1.19	0.21007	.	0.221391	0.37761	N	0.001944	T	0.41834	0.1176	L	0.48642	1.525	0.48135	D	0.999592	B	0.28082	0.2	B	0.30572	0.117	T	0.23833	-1.0177	10	0.87932	D	0	.	5.9478	0.19229	0.3467:0.1285:0.5248:0.0	.	91	Q96AQ2	TM125_HUMAN	M	91	ENSP00000429775:V91M;ENSP00000429275:V91M	ENSP00000429275:V91M	V	+	1	0	TMEM125	43511251	0.990000	0.36364	0.016000	0.15963	0.987000	0.75469	2.049000	0.41288	-0.029000	0.13827	0.455000	0.32223	GTG		PASS	0.637	TMEM125-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019032.2	NM_144626		6	8	6	8	---	---	---	---
FAM159A	348378	broad.mit.edu	37	1	53108615	53108615	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:53108615T>A	ENST00000517870.1	+	2	413	c.263T>A	c.(262-264)cTg>cAg	p.L88Q	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	88						integral component of membrane (GO:0016021)		p.L88Q(1)		endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						CTCTGCTACCTGTTCATCAGC	0.522																																						uc001cuf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(262-264)CTG>CAG		hypothetical protein LOC348378							172.0	164.0	167.0					1																	53108615		2070	4192	6262	SO:0001583	missense	348378					integral to membrane		g.chr1:53108615T>A		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.263T>A	1.37:g.53108615T>A	ENSP00000429726:p.Leu88Gln					FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA	p.L88Q	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN			2	363	+			88			Helical; (Potential).		Q6ZRG4	Missense_Mutation	SNP	ENST00000517870.1	37	c.263T>A	CCDS41336.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.956095	0.73902	.	.	ENSG00000182183	ENST00000517870	.	.	.	4.7	3.55	0.40652	.	0.237069	0.25267	N	0.031908	T	0.70430	0.3223	M	0.62723	1.935	0.37575	D	0.919591	D	0.89917	1.0	D	0.78314	0.991	T	0.74532	-0.3634	9	0.72032	D	0.01	.	10.6825	0.45823	0.1433:0.0:0.0:0.8567	.	88	Q6UWV7	F159A_HUMAN	Q	88	.	ENSP00000429726:L88Q	L	+	2	0	FAM159A	52881203	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.967000	0.76079	0.806000	0.34183	0.455000	0.32223	CTG		PASS	0.522	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		6	110	6	110	---	---	---	---
IL12RB2	3595	broad.mit.edu	37	1	67861305	67861305	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:67861305A>G	ENST00000262345.1	+	16	2762	c.2122A>G	c.(2122-2124)Agt>Ggt	p.S708G	IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.S622G	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	708					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.S708G(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GCTGGTCATCAGTGAAGTCCT	0.542																																						uc001ddu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2122-2124)AGT>GGT		interleukin 12 receptor, beta 2 precursor							86.0	89.0	88.0					1																	67861305		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67861305A>G	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2122A>G	1.37:g.67861305A>G	ENSP00000262345:p.Ser708Gly					IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.S622G|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA	p.S708G	NM_001559	NP_001550	Q99665	I12R2_HUMAN			16	2762	+			708			Cytoplasmic (Potential).		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.2122A>G	CCDS638.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.312361	0.23908	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.41400	1.0;1.93	5.11	1.37	0.22104	.	0.680122	0.15424	N	0.263052	T	0.16557	0.0398	N	0.22421	0.69	0.37411	D	0.913236	P;B	0.46220	0.874;0.146	P;B	0.50440	0.641;0.026	T	0.07271	-1.0781	10	0.22706	T	0.39	-0.1972	4.7085	0.12861	0.6644:0.1602:0.1754:0.0	.	622;708	F5H7L6;Q99665	.;I12R2_HUMAN	G	708;622	ENSP00000262345:S708G;ENSP00000442443:S622G	ENSP00000262345:S708G	S	+	1	0	IL12RB2	67633893	0.791000	0.28800	0.196000	0.23383	0.158000	0.22134	1.278000	0.33179	0.029000	0.15352	0.459000	0.35465	AGT		PASS	0.542	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		12	22	12	22	---	---	---	---
ASB17	127247	broad.mit.edu	37	1	76387906	76387906	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:76387906G>T	ENST00000284142.6	-	2	679	c.540C>A	c.(538-540)aaC>aaA	p.N180K		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	180					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.N180K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TTAAGACAATGTTGATAGGGT	0.363																																						uc001dhe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(538-540)AAC>AAA		ankyrin repeat and SOCS box-containing 17							117.0	99.0	105.0					1																	76387906		2203	4300	6503	SO:0001583	missense	127247				intracellular signal transduction			g.chr1:76387906G>T	AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"""Ankyrin repeat domain containing"""	19769	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 17"""			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.540C>A	1.37:g.76387906G>T	ENSP00000284142:p.Asn180Lys					ASB17_uc001dhf.1_RNA	p.N180K	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN			2	680	-			180					B1APB8|Q8N0X5	Missense_Mutation	SNP	ENST00000284142.6	37	c.540C>A	CCDS671.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417262	0.42918	.	.	ENSG00000154007	ENST00000284142	T	0.29917	1.55	4.81	3.88	0.44766	.	0.209157	0.32655	N	0.005811	T	0.24160	0.0585	N	0.24115	0.695	0.32754	N	0.50606	D	0.63880	0.993	D	0.70227	0.968	T	0.12837	-1.0532	10	0.87932	D	0	.	9.2621	0.37619	0.1027:0.0:0.8973:0.0	.	180	Q8WXJ9	ASB17_HUMAN	K	180	ENSP00000284142:N180K	ENSP00000284142:N180K	N	-	3	2	ASB17	76160494	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.330000	0.33781	1.158000	0.42547	0.460000	0.39030	AAC		PASS	0.363	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026982.1	NM_080868		17	18	17	18	---	---	---	---
SSX2IP	117178	broad.mit.edu	37	1	85124070	85124070	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:85124070G>C	ENST00000342203.3	-	9	1272	c.1009C>G	c.(1009-1011)Cag>Gag	p.Q337E	SSX2IP_ENST00000605755.1_Missense_Mutation_p.Q310E|SSX2IP_ENST00000437941.2_Missense_Mutation_p.Q310E|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.Q337E	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	337					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.Q337E(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTGTAAGCTGCTCTCTCACA	0.428																																						uc001dkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1009-1011)CAG>GAG		synovial sarcoma, X breakpoint 2 interacting							147.0	131.0	136.0					1																	85124070		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85124070G>C		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1009C>G	1.37:g.85124070G>C	ENSP00000340279:p.Gln337Glu					SSX2IP_uc001dkf.2_Missense_Mutation_p.Q310E|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.Q310E|SSX2IP_uc001dki.2_Missense_Mutation_p.Q337E|SSX2IP_uc010osa.1_Missense_Mutation_p.Q310E|SSX2IP_uc001dkj.2_Missense_Mutation_p.Q337E|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.Q333E	p.Q337E	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	10	1284	-			337					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.1009C>G	CCDS699.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865200	0.71949	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.51817	0.69;0.7	5.81	5.81	0.92471	.	0.048046	0.85682	D	0.000000	T	0.45498	0.1345	M	0.67953	2.075	0.49130	D	0.999751	P;P;P	0.44734	0.842;0.756;0.756	P;P;B	0.45276	0.475;0.449;0.351	T	0.35001	-0.9806	10	0.33940	T	0.23	.	20.0782	0.97758	0.0:0.0:1.0:0.0	.	333;337;310	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	E	337;310;333;337	ENSP00000340279:Q337E;ENSP00000412781:Q310E	ENSP00000340279:Q337E	Q	-	1	0	SSX2IP	84896658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.780000	0.68956	2.746000	0.94184	0.655000	0.94253	CAG		PASS	0.428	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		13	21	13	21	---	---	---	---
GTF2B	2959	broad.mit.edu	37	1	89322963	89322963	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:89322963C>A	ENST00000370500.5	-	6	861	c.743G>T	c.(742-744)aGg>aTg	p.R248M	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	248					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R248M(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		GATGGGGCTCCTCCCAGGAAC	0.507																																						uc001dmo.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(742-744)AGG>ATG		general transcription factor IIB							89.0	86.0	87.0					1																	89322963		2203	4300	6503	SO:0001583	missense	2959				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding	g.chr1:89322963C>A	M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"""General transcription factors"""	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.743G>T	1.37:g.89322963C>A	ENSP00000359531:p.Arg248Met						p.R248M	NM_001514	NP_001505	Q00403	TF2B_HUMAN		all cancers(265;0.0131)|Epithelial(280;0.0255)	6	862	-		Lung NSC(277;0.123)	248			2.		A8K1A7|Q5JS30	Missense_Mutation	SNP	ENST00000370500.5	37	c.743G>T	CCDS715.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954127	0.92726	.	.	ENSG00000137947	ENST00000370500	T	0.61980	0.06	5.38	5.38	0.77491	Transcription factor TFIIB, conserved site (1);Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.86451	0.5936	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91079	0.4898	10	0.87932	D	0	-3.095	19.4864	0.95030	0.0:1.0:0.0:0.0	.	248	Q00403	TF2B_HUMAN	M	248	ENSP00000359531:R248M	ENSP00000359531:R248M	R	-	2	0	GTF2B	89095551	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	7.361000	0.79497	2.687000	0.91594	0.561000	0.74099	AGG		PASS	0.507	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514		18	22	18	22	---	---	---	---
AGL	178	broad.mit.edu	37	1	100350190	100350190	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:100350190G>T	ENST00000294724.4	+	20	3090	c.2612G>T	c.(2611-2613)aGt>aTt	p.S871I	AGL_ENST00000370161.2_Missense_Mutation_p.S855I|AGL_ENST00000361915.3_Missense_Mutation_p.S871I|AGL_ENST00000370163.3_Missense_Mutation_p.S871I|AGL_ENST00000361302.3_Missense_Mutation_p.S855I|AGL_ENST00000361522.4_Missense_Mutation_p.S854I|AGL_ENST00000370165.3_Missense_Mutation_p.S871I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	871					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.S871I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ACACAATTCAGTCCTCACTTT	0.363																																						uc001dsi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2611-2613)AGT>ATT		amylo-1,6-glucosidase,							83.0	81.0	82.0					1																	100350190		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100350190G>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2612G>T	1.37:g.100350190G>T	ENSP00000294724:p.Ser871Ile					AGL_uc001dsj.1_Missense_Mutation_p.S871I|AGL_uc001dsk.1_Missense_Mutation_p.S871I|AGL_uc001dsl.1_Missense_Mutation_p.S871I|AGL_uc001dsm.1_Missense_Mutation_p.S855I|AGL_uc001dsn.1_Missense_Mutation_p.S854I	p.S871I	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	20	3012	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	871			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2612G>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192859	0.38707	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.67	4.57	0.56435	.	0.081320	0.85682	D	0.000000	T	0.42854	0.1221	N	0.24115	0.695	0.46478	D	0.999069	P;B;P	0.43633	0.813;0.058;0.716	B;B;B	0.36030	0.216;0.028;0.107	T	0.45891	-0.9230	10	0.27082	T	0.32	.	11.0178	0.47701	0.0784:0.1327:0.7889:0.0	.	854;855;871	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	I	871;871;871;871;855;855;854	ENSP00000355106:S871I;ENSP00000359184:S871I;ENSP00000359182:S871I;ENSP00000294724:S871I;ENSP00000354971:S855I;ENSP00000359180:S855I;ENSP00000354635:S854I	ENSP00000294724:S871I	S	+	2	0	AGL	100122778	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.684000	0.54671	2.677000	0.91161	0.557000	0.71058	AGT		PASS	0.363	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		3	35	3	35	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103488510	103488510	+	Nonsense_Mutation	SNP	C	C	A	rs532060501		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:103488510C>A	ENST00000370096.3	-	8	1345	c.1033G>T	c.(1033-1035)Gga>Tga	p.G345*	COL11A1_ENST00000358392.2_Nonsense_Mutation_p.G357*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.G306*|COL11A1_ENST00000512756.1_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	345	Nonhelical region.				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.G357*(1)|p.G345*(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)		TAATCCTCTCCCGTTAGATAT	0.338																																						uc001dul.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1033-1035)GGA>TGA		alpha 1 type XI collagen isoform A							61.0	62.0	62.0					1																	103488510		2203	4297	6500	SO:0001587	stop_gained	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.chr1:103488510C>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.1033G>T	1.37:g.103488510C>A	ENSP00000359114:p.Gly345*					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Nonsense_Mutation_p.G357*|COL11A1_uc001dun.2_Nonsense_Mutation_p.G306*|COL11A1_uc009weh.2_Intron	p.G345*	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1351	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	345			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.1033G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	40	8.027068	0.98616	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	.	.	.	5.67	5.67	0.87782	.	0.147408	0.45361	D	0.000362	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	17.9568	0.89072	0.0:1.0:0.0:0.0	.	.	.	.	X	345;357;306;357	.	ENSP00000302551:G306X	G	-	1	0	COL11A1	103261098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.010000	0.70753	2.669000	0.90835	0.643000	0.83706	GGA		PASS	0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		19	21	19	21	---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156828411	156828411	+	Start_Codon_SNP	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:156828411C>T	ENST00000368195.3	-	1	399	c.3G>A	c.(1-3)atG>atA	p.M1I	NTRK1_ENST00000368196.3_5'Flank|NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000358660.3_5'Flank|NTRK1_ENST00000524377.1_5'Flank	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.M1I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAGGCACTGCCATTGTCCCAG	0.597																																						uc010pht.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(1-3)ATG>ATA		insulin receptor-related receptor precursor							102.0	92.0	96.0					1																	156828411		2203	4300	6503	SO:0001582	initiator_codon_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156828411C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3G>A	1.37:g.156828411C>T	ENSP00000357178:p.Met1Ile					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.M1I|NTRK1_uc001fqh.1_5'Flank|NTRK1_uc001fqi.1_5'Flank|NTRK1_uc009wsk.1_5'Flank	p.M1I	NM_014215	NP_055030	P14616	INSRR_HUMAN			1	257	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.3G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067771	0.55539	.	.	ENSG00000027644	ENST00000368195	T	0.73047	-0.71	4.97	4.97	0.65823	.	0.000000	0.51477	D	0.000092	T	0.66819	0.2828	.	.	.	0.80722	D	1	P	0.35872	0.525	P	0.45428	0.48	T	0.72808	-0.4181	9	0.87932	D	0	.	13.5986	0.62004	0.0:1.0:0.0:0.0	.	1	P14616	INSRR_HUMAN	I	1	ENSP00000357178:M1I	ENSP00000357178:M1I	M	-	3	0	INSRR	155095035	1.000000	0.71417	0.985000	0.45067	0.026000	0.11368	3.570000	0.53834	2.578000	0.87016	0.655000	0.94253	ATG		PASS	0.597	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	Missense_Mutation	10	40	10	40	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576496	158576496	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:158576496C>A	ENST00000361284.1	+	1	268	c.268C>A	c.(268-270)Cag>Aag	p.Q90K		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q90K(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGGGGGGGACCAGGCTATCTC	0.542																																						uc010pio.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(268-270)CAG>AAG		olfactory receptor, family 10, subfamily Z,							182.0	190.0	188.0					1																	158576496		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576496C>A	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.268C>A	1.37:g.158576496C>A	ENSP00000354707:p.Gln90Lys						p.Q90K	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	268	+	all_hematologic(112;0.0378)		90			Extracellular (Potential).		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.268C>A	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.034975	0.00406	.	.	ENSG00000198967	ENST00000361284	T	0.35421	1.31	5.36	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.393893	0.18692	N	0.133821	T	0.03959	0.0111	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36089	-0.9762	10	0.02654	T	1	.	11.6238	0.51134	0.4375:0.5625:0.0:0.0	.	90	Q8NGY1	O10Z1_HUMAN	K	90	ENSP00000354707:Q90K	ENSP00000354707:Q90K	Q	+	1	0	OR10Z1	156843120	0.000000	0.05858	0.033000	0.17914	0.048000	0.14542	0.597000	0.24059	1.478000	0.48253	0.655000	0.94253	CAG		PASS	0.542	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		32	138	32	138	---	---	---	---
OR6N1	128372	broad.mit.edu	37	1	158736077	158736077	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:158736077G>T	ENST00000335094.2	-	1	415	c.396C>A	c.(394-396)taC>taA	p.Y132*		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y132*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGAGGGTTGGGTAGTGGAGGG	0.517																																						uc010piq.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(394-396)TAC>TAA		olfactory receptor, family 6, subfamily N,							42.0	47.0	46.0					1																	158736077		2203	4300	6503	SO:0001587	stop_gained	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158736077G>T	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.396C>A	1.37:g.158736077G>T	ENSP00000335535:p.Tyr132*						p.Y132*	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	396	-	all_hematologic(112;0.0378)		132			Cytoplasmic (Potential).		Q5VUU8|Q96R35	Nonsense_Mutation	SNP	ENST00000335094.2	37	c.396C>A	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648175	0.87958	.	.	ENSG00000197403	ENST00000335094	.	.	.	5.1	2.98	0.34508	.	0.000000	0.42053	D	0.000779	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.1336	8.5806	0.33626	0.2478:0.0:0.7522:0.0	.	.	.	.	X	132	.	ENSP00000335535:Y132X	Y	-	3	2	OR6N1	157002701	0.262000	0.24073	0.993000	0.49108	0.979000	0.70002	0.582000	0.23834	0.541000	0.28827	0.655000	0.94253	TAC		PASS	0.517	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		6	17	6	17	---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160151781	160151781	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:160151781A>T	ENST00000368081.4	+	20	3400	c.2929A>T	c.(2929-2931)Act>Tct	p.T977S	ATP1A4_ENST00000470705.1_Missense_Mutation_p.T113S|ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	977					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.T977S(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGTCCTACACTCCAGGCAT	0.532																																						uc001fve.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2929-2931)ACT>TCT		Na+/K+ -ATPase alpha 4 subunit isoform 1							124.0	119.0	120.0					1																	160151781		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160151781A>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2929A>T	1.37:g.160151781A>T	ENSP00000357060:p.Thr977Ser					ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.T480S|ATP1A4_uc001fvh.2_Missense_Mutation_p.T113S	p.T977S	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		20	3408	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		977			Extracellular (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.2929A>T	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.734572	0.48939	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.96136	-3.92;-3.92	4.26	0.0965	0.14490	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.400735	0.26708	N	0.022919	D	0.89210	0.6650	M	0.82433	2.59	0.21967	N	0.999441	B	0.14438	0.01	B	0.18871	0.023	D	0.83954	0.0318	10	0.87932	D	0	.	3.7986	0.08750	0.4495:0.0:0.1009:0.4497	.	977	Q13733	AT1A4_HUMAN	S	977;113	ENSP00000357060:T977S;ENSP00000433094:T113S	ENSP00000357060:T977S	T	+	1	0	ATP1A4	158418405	1.000000	0.71417	0.949000	0.38748	0.987000	0.75469	2.928000	0.48908	0.229000	0.21039	0.374000	0.22700	ACT		PASS	0.532	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		38	85	38	85	---	---	---	---
FCRLB	127943	broad.mit.edu	37	1	161697367	161697367	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:161697367G>A	ENST00000367948.2	+	8	1411	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367946.3_3'UTR|FCRLB_ENST00000392158.1_Missense_Mutation_p.R399Q|FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367945.1_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	399					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)		p.R399Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CAGGCCCTCCGGGAGCTCAGG	0.637																																						uc001gbh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1195-1197)CGG>CAG		Fc receptor-like B							30.0	36.0	34.0					1																	161697367		2203	4300	6503	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161697367G>A	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.1196G>A	1.37:g.161697367G>A	ENSP00000356925:p.Arg399Gln					FCRLB_uc009wus.2_Missense_Mutation_p.R399Q|FCRLB_uc001gbj.2_3'UTR|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_3'UTR|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Missense_Mutation_p.R399Q|FCRLB_uc001gbn.3_3'UTR	p.R399Q	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		8	1430	+	all_hematologic(112;0.0359)		399					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.1196G>A	CCDS30927.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240559	0.39598	.	.	ENSG00000162746	ENST00000367948;ENST00000392158	T;T	0.01335	5.0;5.0	4.03	-1.33	0.09172	.	1.202910	0.06182	N	0.679562	T	0.00271	0.0008	N	0.08118	0	0.09310	N	1	B	0.20988	0.05	B	0.12156	0.007	T	0.43458	-0.9390	10	0.23302	T	0.38	.	1.2337	0.01949	0.1793:0.2762:0.355:0.1896	.	399	Q6BAA4	FCRLB_HUMAN	Q	399	ENSP00000356925:R399Q;ENSP00000375999:R399Q	ENSP00000356925:R399Q	R	+	2	0	FCRLB	159963991	0.000000	0.05858	0.000000	0.03702	0.492000	0.33523	-0.582000	0.05814	-0.199000	0.10317	-0.387000	0.06579	CGG		PASS	0.637	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		8	40	8	40	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169586577	169586577	+	Missense_Mutation	SNP	C	C	A	rs7529463	byFrequency	TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:169586577C>A	ENST00000263686.6	-	3	207	c.170G>T	c.(169-171)cGt>cTt	p.R57L	SELP_ENST00000367793.2_Missense_Mutation_p.R57L|SELP_ENST00000367786.2_Missense_Mutation_p.R57L|SELP_ENST00000367792.2_Missense_Mutation_p.R57L|SELP_ENST00000367791.2_Missense_Mutation_p.R57L|SELP_ENST00000367794.2_Missense_Mutation_p.R57L|SELP_ENST00000458599.2_Missense_Mutation_p.R57L|SELP_ENST00000367788.2_Missense_Mutation_p.R57L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	57					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.R57L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GCAGTATTTACGGGAAATATT	0.408																																						uc001ggi.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(169-171)CGT>CTT		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						142.0	127.0	132.0					1																	169586577		2203	4299	6502	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169586577C>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.170G>T	1.37:g.169586577C>A	ENSP00000263686:p.Arg57Leu					SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.R57L	p.R57L	NM_003005	NP_002996	P16109	LYAM3_HUMAN			3	235	-	all_hematologic(923;0.208)		57			Extracellular (Potential).		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.170G>T	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837968	0.91117	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.9	5.9	0.94986	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.47852	D	0.000207	T	0.44435	0.1293	M	0.81614	2.55	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41716	-0.9493	10	0.87932	D	0	-28.3189	17.7661	0.88478	0.0:1.0:0.0:0.0	.	57;57	Q6NUL9;P16109	.;LYAM3_HUMAN	L	57;57;56;57;57;57;57;57;57;57;57;57;42	ENSP00000263686:R57L;ENSP00000356767:R57L;ENSP00000356768:R57L;ENSP00000356766:R57L;ENSP00000356765:R57L;ENSP00000356762:R57L;ENSP00000356760:R57L	ENSP00000263686:R57L	R	-	2	0	SELP	167853201	0.963000	0.33076	0.624000	0.29186	0.002000	0.02628	4.657000	0.61490	2.793000	0.96121	0.563000	0.77884	CGT		PASS	0.408	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		60	65	60	65	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175335252	175335252	+	Silent	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:175335252G>T	ENST00000367674.2	-	11	2784	c.2076C>A	c.(2074-2076)ctC>ctA	p.L692L	TNR_ENST00000263525.2_Silent_p.L692L			Q92752	TENR_HUMAN	tenascin R	692	Fibronectin type-III 5. {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.L692L(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)					CTGTCACCATGAGGTCTCGGG	0.517																																						uc001gkp.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2074-2076)CTC>CTA		tenascin R precursor							108.0	82.0	91.0					1																	175335252		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175335252G>T	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.2076C>A	1.37:g.175335252G>T						TNR_uc009wwu.1_Silent_p.L692L	p.L692L	NM_003285	NP_003276	Q92752	TENR_HUMAN			9	2157	-	Renal(580;0.146)		692			Fibronectin type-III 5.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.2076C>A	CCDS1318.1																																																																																				PASS	0.517	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		18	22	18	22	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176668393	176668393	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:176668393G>A	ENST00000367662.3	+	8	4068	c.2904G>A	c.(2902-2904)ctG>ctA	p.L968L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	968					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L968L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCTCACCCTGTGGGTCACTT	0.562																																						uc001gkz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2902-2904)CTG>CTA		pappalysin 2 isoform 1							155.0	155.0	155.0					1																	176668393		2046	4189	6235	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668393G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2904G>A	1.37:g.176668393G>A						PAPPA2_uc009www.2_RNA	p.L968L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			8	4068	+			968					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.2904G>A	CCDS41438.1																																																																																				PASS	0.562	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			70	102	70	102	---	---	---	---
SEC16B	89866	broad.mit.edu	37	1	177906551	177906551	+	Silent	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:177906551C>G	ENST00000308284.6	-	19	2390	c.2301G>C	c.(2299-2301)ctG>ctC	p.L767L	SEC16B_ENST00000495165.1_5'Flank|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	767					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.L768L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGGCTGGAGCAGGCAGGTCT	0.602																																						uc001gli.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2299-2301)CTG>CTC		leucine zipper transcription regulator 2							20.0	23.0	22.0					1																	177906551		1904	4127	6031	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177906551C>G	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2301G>C	1.37:g.177906551C>G						SEC16B_uc001glk.1_Silent_p.L444L|SEC16B_uc009wwy.1_Silent_p.L322L|SEC16B_uc001glh.1_Silent_p.L426L|SEC16B_uc009wwz.1_Silent_p.L426L|SEC16B_uc001glj.1_Silent_p.L768L	p.L767L	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			19	2391	-			767					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.2301G>C	CCDS44281.1																																																																																				PASS	0.602	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		5	6	5	6	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180061849	180061849	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:180061849G>T	ENST00000367607.3	+	34	7027	c.6609G>T	c.(6607-6609)caG>caT	p.Q2203H	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2203					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q2203H(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAGATTTTCAGACCCCATCTC	0.383																																						uc001gnt.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(6607-6609)CAG>CAT		centrosome-associated protein 350							48.0	47.0	47.0					1																	180061849		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180061849G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6609G>T	1.37:g.180061849G>T	ENSP00000356579:p.Gln2203His					CEP350_uc009wxl.2_Missense_Mutation_p.Q2202H|CEP350_uc001gnv.2_Missense_Mutation_p.Q338H|CEP350_uc001gnw.1_5'UTR|CEP350_uc001gnx.1_5'UTR	p.Q2203H	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			34	6992	+			2203					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.6609G>T	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.891|1.891	-0.455389|-0.455389	0.04540|0.04540	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607	.|T	.|0.58060	.|0.36	5.73|5.73	1.24|1.24	0.21308|0.21308	.|.	.|0.883813	.|0.09476	.|N	.|0.797029	T|T	0.37812|0.37812	0.1017|0.1017	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|P;P	.|0.49961	.|0.93;0.855	.|B;B	.|0.42214	.|0.38;0.38	T|T	0.15925|0.15925	-1.0420|-1.0420	5|9	.|.	.|.	.|.	.|.	5.8101|5.8101	0.18462|0.18462	0.315:0.0:0.5451:0.1399|0.315:0.0:0.5451:0.1399	.|.	.|2203;2203	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	Y|H	378|2203	.|ENSP00000356579:Q2203H	.|.	D|Q	+|+	1|3	0|2	CEP350|CEP350	178328472|178328472	0.002000|0.002000	0.14202|0.14202	0.224000|0.224000	0.23877|0.23877	0.010000|0.010000	0.07245|0.07245	0.034000|0.034000	0.13776|0.13776	0.085000|0.085000	0.17107|0.17107	-0.808000|-0.808000	0.03180|0.03180	GAC|CAG		PASS	0.383	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		3	6	3	6	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181620509	181620509	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:181620509G>A	ENST00000367573.2	+	7	987	c.987G>A	c.(985-987)ctG>ctA	p.L329L	CACNA1E_ENST00000526775.1_Silent_p.L329L|CACNA1E_ENST00000360108.3_Silent_p.L329L|CACNA1E_ENST00000358338.5_Silent_p.L280L|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Silent_p.L329L|CACNA1E_ENST00000357570.5_Silent_p.L280L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	329					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.L329L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGAATTGGCTGTACTTCATCC	0.423																																						uc001gow.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(985-987)CTG>CTA		calcium channel, voltage-dependent, R type,							190.0	180.0	183.0					1																	181620509		1920	4141	6061	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181620509G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.987G>A	1.37:g.181620509G>A						CACNA1E_uc009wxr.2_Silent_p.L236L|CACNA1E_uc009wxs.2_Silent_p.L236L	p.L329L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			7	1152	+			329			I.|Helical; Name=S6 of repeat I.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.987G>A	CCDS55664.1																																																																																				PASS	0.423	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		20	54	20	54	---	---	---	---
APOBEC4	403314	broad.mit.edu	37	1	183616857	183616857	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:183616857T>C	ENST00000308641.4	-	2	1331	c.1060A>G	c.(1060-1062)Agc>Ggc	p.S354G	RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	354					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.S354G(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GCCTCCTTGCTACTTGCAAAC	0.408																																						uc001gqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1060-1062)AGC>GGC		apolipoprotein B							127.0	135.0	133.0					1																	183616857		2203	4300	6503	SO:0001583	missense	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183616857T>C	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.1060A>G	1.37:g.183616857T>C	ENSP00000310622:p.Ser354Gly					RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	p.S354G	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN			2	1332	-			354					Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	c.1060A>G	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	T	7.075	0.569125	0.13560	.	.	ENSG00000173627	ENST00000308641	T	0.12879	2.64	5.15	1.52	0.23074	.	0.283142	0.29522	N	0.011910	T	0.09949	0.0244	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23583	-1.0184	10	0.62326	D	0.03	-20.3826	8.2083	0.31469	0.0:0.3263:0.0:0.6737	.	354	Q8WW27	ABEC4_HUMAN	G	354	ENSP00000310622:S354G	ENSP00000310622:S354G	S	-	1	0	APOBEC4	181883480	0.102000	0.21896	0.009000	0.14445	0.010000	0.07245	1.052000	0.30429	0.312000	0.23038	-0.250000	0.11733	AGC		PASS	0.408	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		4	139	4	139	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067323	190067323	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:190067323C>T	ENST00000367462.3	-	8	2357	c.2126G>A	c.(2125-2127)cGt>cAt	p.R709H	BRINP3_ENST00000534846.1_Missense_Mutation_p.R607H	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	709					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R709H(1)									TTTATTTACACGGTCTCTGAT	0.488																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2125-2127)CGT>CAT		family with sequence similarity 5, member C							103.0	100.0	101.0					1																	190067323		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067323C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2126G>A	1.37:g.190067323C>T	ENSP00000356432:p.Arg709His					FAM5C_uc010pot.1_Missense_Mutation_p.R607H	p.R709H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2358	-	Prostate(682;0.198)		709					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.2126G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184934	0.78677	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.26373	1.99;1.74	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.98	T	0.54576	-0.8273	10	0.87932	D	0	.	17.3704	0.87376	0.0:1.0:0.0:0.0	.	607;709	B7Z260;Q76B58	.;FAM5C_HUMAN	H	709;607	ENSP00000356432:R709H;ENSP00000438022:R607H	ENSP00000356432:R709H	R	-	2	0	FAM5C	188333946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.734000	0.84928	2.695000	0.91970	0.650000	0.86243	CGT		PASS	0.488	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		28	35	28	35	---	---	---	---
NR5A2	2494	broad.mit.edu	37	1	200017815	200017815	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:200017815C>A	ENST00000367362.3	+	5	1225	c.979C>A	c.(979-981)Cag>Aag	p.Q327K	NR5A2_ENST00000236914.3_Missense_Mutation_p.Q281K|NR5A2_ENST00000544748.1_Missense_Mutation_p.Q255K	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	327					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q327K(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GGCCTATTTGCAGCAAGAGCA	0.498																																					Melanoma(179;1138 2773 15678 26136)	uc001gvb.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(979-981)CAG>AAG		nuclear receptor subfamily 5, group A, member 2							125.0	119.0	121.0					1																	200017815		2203	4300	6503	SO:0001583	missense	2494				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200017815C>A	U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"""Nuclear hormone receptors"""	7984	protein-coding gene	gene with protein product	"""liver receptor homolog-1"""	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.979C>A	1.37:g.200017815C>A	ENSP00000356331:p.Gln327Lys					NR5A2_uc001gvc.2_Missense_Mutation_p.Q281K|NR5A2_uc009wzh.2_Missense_Mutation_p.Q287K|NR5A2_uc010pph.1_Missense_Mutation_p.Q255K	p.Q327K	NM_205860	NP_995582	O00482	NR5A2_HUMAN			5	1185	+	Prostate(682;0.19)		327					B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	ENST00000367362.3	37	c.979C>A	CCDS1401.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.574829|4.574829	0.86542|0.86542	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367357|ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480	.|D;D;D	.|0.96651	.|-4.08;-4.08;-4.08	5.33|5.33	5.33|5.33	0.75918|0.75918	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.97942	.|0.9323	M|M	0.83852|0.83852	2.665|2.665	0.80722|0.80722	D|D	1|1	.|P;D	.|0.57571	.|0.834;0.98	.|P;P	.|0.60886	.|0.468;0.88	.|D	.|0.97964	.|1.0339	.|9	.|.	.|.	.|.	.|.	19.3811|19.3811	0.94536|0.94536	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|281;327	.|F1D8R9;O00482	.|.;NR5A2_HUMAN	X|K	247|327;281;255;247	.|ENSP00000356331:Q327K;ENSP00000236914:Q281K;ENSP00000439116:Q255K	.|.	C|Q	+|+	3|1	2|0	NR5A2|NR5A2	198284438|198284438	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	7.381000|7.381000	0.79718|0.79718	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	TGC|CAG		PASS	0.498	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086497.2			23	40	23	40	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201825050	201825050	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:201825050C>G	ENST00000361565.4	+	10	1179	c.1110C>G	c.(1108-1110)atC>atG	p.I370M		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	370					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)	p.I370M(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ACATGCAAATCACTGAGGAGC	0.343																																						uc001gwz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1108-1110)ATC>ATG		importin 9							68.0	73.0	72.0					1																	201825050		2202	4300	6502	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201825050C>G	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1110C>G	1.37:g.201825050C>G	ENSP00000354742:p.Ile370Met						p.I370M	NM_018085	NP_060555	Q96P70	IPO9_HUMAN			10	1160	+			370					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.1110C>G	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092891	0.56075	.	.	ENSG00000198700	ENST00000361565	T	0.67698	-0.28	5.53	3.39	0.38822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	L	0.38175	1.15	0.58432	D	0.999995	P	0.48764	0.915	P	0.47251	0.542	T	0.51482	-0.8700	10	0.28530	T	0.3	-11.0292	6.0849	0.19962	0.2954:0.6107:0.0:0.0938	.	370	Q96P70	IPO9_HUMAN	M	370	ENSP00000354742:I370M	ENSP00000354742:I370M	I	+	3	3	IPO9	200091673	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.353000	0.34045	1.456000	0.47831	0.650000	0.86243	ATC		PASS	0.343	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		16	24	16	24	---	---	---	---
OPTC	26254	broad.mit.edu	37	1	203466142	203466142	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:203466142G>T	ENST00000367222.2	+	3	385	c.269G>T	c.(268-270)aGt>aTt	p.S90I		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	90	Ser/Thr-rich.				negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.S90I(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCAGCATCAGTCCCGCCAAG	0.547																																						uc001gzu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)AGT>ATT		opticin precursor							116.0	99.0	105.0					1																	203466142		2203	4300	6503	SO:0001583	missense	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203466142G>T	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.269G>T	1.37:g.203466142G>T	ENSP00000356191:p.Ser90Ile						p.S90I	NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		3	385	+			90			Ser/Thr-rich.		Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	c.269G>T	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417187	0.42918	.	.	ENSG00000188770	ENST00000367222;ENST00000448911	T;T	0.57273	0.52;0.41	4.4	2.39	0.29439	.	1.622120	0.02957	N	0.142522	T	0.48466	0.1501	L	0.55481	1.735	0.09310	N	1	B	0.20988	0.05	B	0.12837	0.008	T	0.32640	-0.9899	10	0.45353	T	0.12	-1.5114	5.0753	0.14628	0.106:0.0:0.6899:0.2041	.	90	Q9UBM4	OPT_HUMAN	I	90	ENSP00000356191:S90I;ENSP00000399491:S90I	ENSP00000356191:S90I	S	+	2	0	OPTC	201732765	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.925000	0.28791	1.227000	0.43598	-0.224000	0.12420	AGT		PASS	0.547	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		5	17	5	17	---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208390374	208390374	+	Silent	SNP	G	G	A	rs555400028		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:208390374G>A	ENST00000367033.3	-	2	1651	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	298	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.F298F(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGGTGCAGCCGAAGGGCAGGG	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18926	0.0		0.0	False		,,,				2504	0.0					uc001hgz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(892-894)TTC>TTT		plexin A2 precursor							64.0	64.0	64.0					1																	208390374		2203	4300	6503	SO:0001819	synonymous_variant	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390374G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.894C>T	1.37:g.208390374G>A						PLXNA2_uc001hha.3_Silent_p.F352F	p.F298F	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1652	-			298			Extracellular (Potential).|Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	ENST00000367033.3	37	c.894C>T	CCDS31013.1																																																																																				PASS	0.627	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		19	32	19	32	---	---	---	---
RCOR3	55758	broad.mit.edu	37	1	211447576	211447576	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:211447576A>T	ENST00000367005.4	+	3	293	c.152A>T	c.(151-153)aAg>aTg	p.K51M	RCOR3_ENST00000419091.2_Missense_Mutation_p.K109M|RCOR3_ENST00000452621.2_Missense_Mutation_p.K109M|RCOR3_ENST00000367006.4_Missense_Mutation_p.K109M	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	51	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K51M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GCAATTGCAAAGGAAAAGCAT	0.313																																						uc001hig.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(151-153)AAG>ATG		REST corepressor 3 isoform d							82.0	71.0	75.0					1																	211447576		2203	4300	6503	SO:0001583	missense	55758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr1:211447576A>T	AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.152A>T	1.37:g.211447576A>T	ENSP00000355972:p.Lys51Met					RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.K109M|RCOR3_uc010psw.1_Missense_Mutation_p.K109M|RCOR3_uc001hif.2_Missense_Mutation_p.K109M	p.K51M	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)	3	321	+			51			ELM2.		B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	ENST00000367005.4	37	c.152A>T	CCDS31016.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632319	0.87660	.	.	ENSG00000117625	ENST00000534478;ENST00000533469;ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.58	5.58	0.84498	ELM2 domain (2);	0.000000	0.85682	D	0.000000	T	0.64136	0.2571	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;0.992;0.999;0.999	D;D;D;D	0.87578	0.998;0.982;0.99;0.985	T	0.68780	-0.5318	10	0.59425	D	0.04	-17.8286	16.0283	0.80558	1.0:0.0:0.0:0.0	.	109;51;109;109	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4	.;RCOR3_HUMAN;.;.	M	51;51;109;109;109;51	ENSP00000436057:K51M;ENSP00000436838:K51M;ENSP00000355973:K109M;ENSP00000398558:K109M;ENSP00000413929:K109M;ENSP00000355972:K51M	ENSP00000355972:K51M	K	+	2	0	RCOR3	209514199	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.236000	0.95360	2.244000	0.73946	0.477000	0.44152	AAG		PASS	0.313	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	NM_018254		10	12	10	12	---	---	---	---
ESRRG	2104	broad.mit.edu	37	1	216824386	216824386	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:216824386G>T	ENST00000408911.3	-	3	671	c.518C>A	c.(517-519)aCa>aAa	p.T173K	ESRRG_ENST00000360012.3_Missense_Mutation_p.T150K|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000359162.2_Missense_Mutation_p.T150K|ESRRG_ENST00000366940.2_Missense_Mutation_p.T150K|ESRRG_ENST00000361525.3_Missense_Mutation_p.T150K|ESRRG_ENST00000487276.1_Missense_Mutation_p.T150K|ESRRG_ENST00000361395.2_Missense_Mutation_p.T150K|ESRRG_ENST00000366937.1_Missense_Mutation_p.T178K|ESRRG_ENST00000366938.2_Missense_Mutation_p.T150K|ESRRG_ENST00000391890.3_Missense_Mutation_p.T150K|ESRRG_ENST00000493748.1_Missense_Mutation_p.T150K|ESRRG_ENST00000493603.1_Missense_Mutation_p.T150K	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	173					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.T173K(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCTGCGCTTTGTGATTTCACA	0.428																																						uc001hkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(517-519)ACA>AAA		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						127.0	118.0	121.0					1																	216824386		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216824386G>T	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.518C>A	1.37:g.216824386G>T	ENSP00000386171:p.Thr173Lys					ESRRG_uc001hky.1_Missense_Mutation_p.T150K|ESRRG_uc009xdp.1_Missense_Mutation_p.T150K|ESRRG_uc001hkz.1_Intron|ESRRG_uc010puc.1_Missense_Mutation_p.T150K|ESRRG_uc001hla.1_Missense_Mutation_p.T150K|ESRRG_uc001hlb.1_Missense_Mutation_p.T150K|ESRRG_uc010pud.1_5'UTR|ESRRG_uc001hlc.1_Missense_Mutation_p.T150K|ESRRG_uc001hld.1_Missense_Mutation_p.T150K|ESRRG_uc001hkx.1_Missense_Mutation_p.T178K|ESRRG_uc009xdo.1_Missense_Mutation_p.T150K|ESRRG_uc001hle.1_Missense_Mutation_p.T150K	p.T173K	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	3	684	-			173			Nuclear receptor.|NR C4-type.		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.518C>A	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379947	0.95945	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22;-4.22;-4.22;-4.22;-4.22;-4.22;-4.22;-4.22;-4.22	5.74	5.74	0.90152	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.98080	0.9367	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.81914	0.985;0.995	D	0.98922	1.0784	10	0.87932	D	0	.	19.9295	0.97114	0.0:0.0:1.0:0.0	.	178;173	F8W8J3;P62508	.;ERR3_HUMAN	K	150;150;178;173;150;150;150;150;150;150;150;150;150;150	ENSP00000355225:T150K;ENSP00000355907:T150K;ENSP00000355904:T178K;ENSP00000386171:T173K;ENSP00000352077:T150K;ENSP00000354584:T150K;ENSP00000355905:T150K;ENSP00000353108:T150K;ENSP00000419594:T150K;ENSP00000375761:T150K;ENSP00000419155:T150K;ENSP00000417374:T150K;ENSP00000419514:T150K	ENSP00000346386:T150K	T	-	2	0	ESRRG	214891009	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	9.807000	0.99171	2.695000	0.91970	0.655000	0.94253	ACA		PASS	0.428	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		14	50	14	50	---	---	---	---
SDE2	163859	broad.mit.edu	37	1	226173095	226173095	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:226173095G>A	ENST00000272091.7	-	7	1282	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	422								p.R422W(1)|p.R410W(1)									CTTGCTGCCCGCTCCTGCAGA	0.502																																						uc001hpu.3																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1264-1266)CGG>TGG		hypothetical protein LOC163859							97.0	97.0	97.0					1																	226173095		1919	4123	6042	SO:0001583	missense	163859							g.chr1:226173095G>A	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.1264C>T	1.37:g.226173095G>A	ENSP00000272091:p.Arg422Trp					C1orf55_uc001hpv.2_3'UTR	p.R422W	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN			7	1317	-	Breast(184;0.197)		422					A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.1264C>T	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972636	0.74246	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;D	0.86097	-0.98;-2.07	5.67	3.6	0.41247	.	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95385	0.8476	10	0.87932	D	0	-20.5424	15.3003	0.73945	0.0:0.0:0.6812:0.3188	.	422	Q6IQ49	CA055_HUMAN	W	422;410;327	ENSP00000272091:R422W;ENSP00000355782:R327W	ENSP00000272091:R422W	R	-	1	2	C1orf55	224239718	1.000000	0.71417	0.994000	0.49952	0.944000	0.59088	3.321000	0.51999	1.390000	0.46547	0.591000	0.81541	CGG		PASS	0.502	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		30	38	30	38	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228433333	228433333	+	Missense_Mutation	SNP	G	G	C	rs368764802		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:228433333G>C	ENST00000422127.1	+	12	3745	c.3701G>C	c.(3700-3702)gGg>gCg	p.G1234A	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.G1326A|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.G1234A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1234	Ig-like 12.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.G1234A(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCAGATGCTGGGGAGTACAGC	0.522																																						uc009xez.1																			4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(3700-3702)GGG>GCG		obscurin, cytoskeletal calmodulin and							90.0	94.0	93.0					1																	228433333		2051	4179	6230	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228433333G>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3701G>C	1.37:g.228433333G>C	ENSP00000409493:p.Gly1234Ala					OBSCN_uc001hsn.2_Missense_Mutation_p.G1234A	p.G1234A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			12	3745	+		Prostate(94;0.0405)	1234			Ig-like 12.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3701G>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	13.93	2.384010	0.42308	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.16324	2.35;2.35	4.59	4.59	0.56863	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.137756	0.48286	D	0.000189	T	0.46288	0.1385	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	T	0.51156	-0.8741	10	0.45353	T	0.12	.	17.3871	0.87420	0.0:0.0:1.0:0.0	.	1234;1234	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	A	1234	ENSP00000284548:G1234A;ENSP00000409493:G1234A	ENSP00000284548:G1234A	G	+	2	0	OBSCN	226499956	1.000000	0.71417	0.974000	0.42286	0.248000	0.25809	8.961000	0.93122	2.084000	0.62774	0.462000	0.41574	GGG		PASS	0.522	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		12	42	12	42	---	---	---	---
URB2	9816	broad.mit.edu	37	1	229771178	229771178	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:229771178A>T	ENST00000258243.2	+	4	954	c.818A>T	c.(817-819)aAc>aTc	p.N273I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	273						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.N273I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCCATGAAGAACCTTCTGGCT	0.547																																						uc001hts.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(817-819)AAC>ATC		URB2 ribosome biogenesis 2 homolog							62.0	61.0	61.0					1																	229771178		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229771178A>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.818A>T	1.37:g.229771178A>T	ENSP00000258243:p.Asn273Ile					URB2_uc009xfd.1_Missense_Mutation_p.N273I	p.N273I	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	954	+			273					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.818A>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698532	0.30142	.	.	ENSG00000135763	ENST00000258243	T	0.10382	2.88	5.57	-3.6	0.04570	.	0.448580	0.27193	N	0.020485	T	0.05960	0.0155	L	0.43152	1.355	0.25696	N	0.985633	B	0.23442	0.085	B	0.15870	0.014	T	0.27706	-1.0066	9	.	.	.	-4.4828	2.8988	0.05699	0.4767:0.2792:0.1495:0.0945	.	273	Q14146	URB2_HUMAN	I	273	ENSP00000258243:N273I	.	N	+	2	0	URB2	227837801	0.000000	0.05858	0.176000	0.23000	0.972000	0.66771	-1.217000	0.02979	-0.400000	0.07656	0.528000	0.53228	AAC		PASS	0.547	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		20	28	20	28	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232600782	232600782	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:232600782C>A	ENST00000366630.1	-	8	2982	c.2624G>T	c.(2623-2625)gGg>gTg	p.G875V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G875V|SIPA1L2_ENST00000308942.4_5'Flank			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	875					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.G875V(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATTGGAGATCCCGAGAAGACA	0.478																																						uc001hvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(2623-2625)GGG>GTG		signal-induced proliferation-associated 1 like							102.0	100.0	101.0					1																	232600782		1946	4140	6086	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232600782C>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2624G>T	1.37:g.232600782C>A	ENSP00000355589:p.Gly875Val					SIPA1L2_uc001hvf.2_5'Flank	p.G875V	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			7	2782	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	875					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2624G>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902397	0.72754	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.62788	0.0;0.0	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.73598	2.24	0.80722	D	1	D	0.63880	0.993	P	0.60173	0.87	T	0.78455	-0.2197	10	0.62326	D	0.03	-32.2877	20.6439	0.99570	0.0:1.0:0.0:0.0	.	875	Q9P2F8	SI1L2_HUMAN	V	875	ENSP00000355589:G875V;ENSP00000262861:G875V	ENSP00000262861:G875V	G	-	2	0	SIPA1L2	230667405	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.797000	0.62503	2.884000	0.98904	0.655000	0.94253	GGG		PASS	0.478	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		10	22	10	22	---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236925901	236925901	+	Nonsense_Mutation	SNP	C	C	A	rs560852363		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:236925901C>A	ENST00000366578.4	+	21	2833	c.2667C>A	c.(2665-2667)taC>taA	p.Y889*	ACTN2_ENST00000546208.1_Nonsense_Mutation_p.Y383*|ACTN2_ENST00000542672.1_Nonsense_Mutation_p.Y889*	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	889					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.Y889*(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCGCACTCTACGGGGAGAGCG	0.532																																						uc001hyf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2665-2667)TAC>TAA		actinin, alpha 2							55.0	46.0	49.0					1																	236925901		2203	4300	6503	SO:0001587	stop_gained	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236925901C>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2667C>A	1.37:g.236925901C>A	ENSP00000355537:p.Tyr889*					ACTN2_uc001hyg.2_Nonsense_Mutation_p.Y681*|ACTN2_uc009xgi.1_Nonsense_Mutation_p.Y889*|ACTN2_uc010pxu.1_Nonsense_Mutation_p.Y578*|ACTN2_uc001hyh.2_Nonsense_Mutation_p.Y577*	p.Y889*	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		21	2871	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	889					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Nonsense_Mutation	SNP	ENST00000366578.4	37	c.2667C>A	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622244	0.87460	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	.	.	.	5.42	-10.8	0.00216	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.335	0.90285	0.0:0.2937:0.0:0.7063	.	.	.	.	X	889;889;383;658	.	ENSP00000355537:Y889X	Y	+	3	2	ACTN2	234992524	0.000000	0.05858	0.196000	0.23383	0.187000	0.23431	-1.711000	0.01886	-2.225000	0.00724	-0.966000	0.02617	TAC		PASS	0.532	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		11	21	11	21	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237619948	237619948	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:237619948A>T	ENST00000366574.2	+	16	1842	c.1525A>T	c.(1525-1527)Agc>Tgc	p.S509C	RYR2_ENST00000360064.6_Missense_Mutation_p.S507C|RYR2_ENST00000542537.1_Missense_Mutation_p.S493C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	509					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.S507C(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)			GCACGTCTACAGCAGTGCAGC	0.433																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1525-1527)AGC>TGC		cardiac muscle ryanodine receptor							162.0	157.0	158.0					1																	237619948		1937	4142	6079	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.chr1:237619948A>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.1525A>T	1.37:g.237619948A>T	ENSP00000355533:p.Ser509Cys						p.S509C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		16	1645	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	509			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1525A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.028143	0.54790	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.89746	-2.56;-2.56;-2.56	4.56	4.56	0.56223	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000001	D	0.91720	0.7382	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.92594	0.6085	10	0.72032	D	0.01	.	14.284	0.66232	1.0:0.0:0.0:0.0	.	509	Q92736	RYR2_HUMAN	C	509;507;493	ENSP00000355533:S509C;ENSP00000353174:S507C;ENSP00000443798:S493C	ENSP00000353174:S507C	S	+	1	0	RYR2	235686571	1.000000	0.71417	0.921000	0.36526	0.095000	0.18619	9.237000	0.95368	1.816000	0.52996	0.456000	0.33151	AGC		PASS	0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	47	11	47	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240370304	240370304	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:240370304A>G	ENST00000319653.9	+	5	2422	c.2192A>G	c.(2191-2193)aAg>aGg	p.K731R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	731					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.K874R(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTAGAAGAAAAGGAAGTACGG	0.557																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2191-2193)AAG>AGG		formin 2							62.0	61.0	61.0					1																	240370304		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370304A>G	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2192A>G	1.37:g.240370304A>G	ENSP00000318884:p.Lys731Arg					FMN2_uc010pye.1_Missense_Mutation_p.K735R	p.K731R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2417	+	Ovarian(103;0.127)	all_cancers(173;0.013)	731					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2192A>G	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	7.982	0.751410	0.15778	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.27557	1.66	4.96	4.96	0.65561	.	0.732077	0.12902	N	0.429691	T	0.29716	0.0742	M	0.62723	1.935	0.45979	D	0.998794	B	0.31125	0.309	B	0.22386	0.039	T	0.06499	-1.0823	10	0.36615	T	0.2	.	10.6777	0.45796	0.857:0.0:0.0:0.143	.	731	Q9NZ56	FMN2_HUMAN	R	168;731	ENSP00000318884:K731R	ENSP00000318884:K731R	K	+	2	0	FMN2	238436927	0.997000	0.39634	0.891000	0.34965	0.100000	0.18952	2.028000	0.41088	2.086000	0.62901	0.533000	0.62120	AAG		PASS	0.557	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		12	21	12	21	---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242042374	242042374	+	Missense_Mutation	SNP	G	G	T	rs191573829	byFrequency	TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:242042374G>T	ENST00000366548.3	+	13	2431	c.1838G>T	c.(1837-1839)gGa>gTa	p.G613V	EXO1_ENST00000348581.5_Missense_Mutation_p.G613V|EXO1_ENST00000518483.1_Missense_Mutation_p.G613V	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	613	Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.G613V(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGTTGGTCTGGAGGTCTTGGA	0.463								Editing and processing nucleases																														uc001hzh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|skin(1)	5						c.(1837-1839)GGA>GTA	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							109.0	107.0	108.0					1																	242042374		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242042374G>T	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1838G>T	1.37:g.242042374G>T	ENSP00000355506:p.Gly613Val					EXO1_uc001hzi.2_Missense_Mutation_p.G613V|EXO1_uc001hzj.2_Missense_Mutation_p.G613V|EXO1_uc009xgq.2_Missense_Mutation_p.G612V	p.G613V	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		13	2378	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	613			Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.1838G>T	CCDS1620.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.502611|4.502611	0.85176|0.85176	.|.	.|.	ENSG00000174371|ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483|ENST00000521202	T;T;T|.	0.32753|.	1.44;1.44;1.44|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.051997|.	0.85682|.	D|.	0.000000|.	T|T	0.75398|0.75398	0.3844|0.3844	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.994;0.997;0.994|.	P;D;P|.	0.64506|.	0.845;0.926;0.845|.	T|T	0.74025|0.74025	-0.3797|-0.3797	10|5	0.34782|.	T|.	0.22|.	-11.8324|-11.8324	17.3875|17.3875	0.87421|0.87421	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	612;613;613|.	A8K5H6;Q9UQ84-4;Q9UQ84|.	.;.;EXO1_HUMAN|.	V|C	613|11	ENSP00000355506:G613V;ENSP00000311873:G613V;ENSP00000430251:G613V|.	ENSP00000311873:G613V|.	G|W	+|+	2|3	0|0	EXO1|EXO1	240108997|240108997	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	6.127000|6.127000	0.71642|0.71642	2.716000|2.716000	0.92895|0.92895	0.650000|0.650000	0.86243|0.86243	GGA|TGG		PASS	0.463	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		31	47	31	47	---	---	---	---
SDCCAG8	10806	broad.mit.edu	37	1	243449593	243449593	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:243449593A>T	ENST00000366541.3	+	5	558	c.440A>T	c.(439-441)aAa>aTa	p.K147I	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.K147I|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.K147I|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.K2I	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	147					establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.K147I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TCTGGAATGAAAAATAAAATA	0.358																																						uc001hzw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)AAA>ATA		serologically defined colon cancer antigen 8							74.0	82.0	79.0					1																	243449593		2203	4300	6503	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243449593A>T	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.440A>T	1.37:g.243449593A>T	ENSP00000355499:p.Lys147Ile					SDCCAG8_uc010pyk.1_Missense_Mutation_p.K2I|SDCCAG8_uc010pyl.1_Missense_Mutation_p.K2I|SDCCAG8_uc001hzx.2_Missense_Mutation_p.K2I	p.K147I	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	5	596	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	147			Potential.		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.440A>T	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.558481	0.45590	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541;ENST00000343783	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	M	0.75264	2.295	0.47308	D	0.99938	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	T	0.59558	-0.7432	10	0.87932	D	0	-23.2162	12.55	0.56222	1.0:0.0:0.0:0.0	.	147;147	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	I	147;147;147;2	ENSP00000348137:K147I;ENSP00000375721:K147I;ENSP00000355499:K147I;ENSP00000341260:K2I	ENSP00000341260:K2I	K	+	2	0	SDCCAG8	241516216	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	5.579000	0.67457	1.917000	0.55516	0.533000	0.62120	AAA		PASS	0.358	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		21	34	21	34	---	---	---	---
ZBTB18	10472	broad.mit.edu	37	1	244217443	244217443	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:244217443A>G	ENST00000358704.4	+	2	516	c.367A>G	c.(367-369)Aaa>Gaa	p.K123E		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	114					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K114E(1)									CAAAGTCTGCAAAAAGAAGCT	0.458																																						uc001iae.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(340-342)AAA>GAA		zinc finger protein 238 isoform 2							64.0	60.0	61.0					1																	244217443		2203	4300	6503	SO:0001583	missense	10472				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:244217443A>G	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.367A>G	1.37:g.244217443A>G	ENSP00000351539:p.Lys123Glu					ZNF238_uc001iad.3_Missense_Mutation_p.K123E|ZNF238_uc001iaf.1_Missense_Mutation_p.K114E	p.K114E	NM_006352	NP_006343	Q99592	ZN238_HUMAN	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		1	862	+	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		114					A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.340A>G	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.272733	0.80580	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.62232	0.04	5.28	5.28	0.74379	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	N	0.25201	0.72	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.996	D;D;D	0.77004	0.989;0.989;0.987	T	0.72811	-0.4180	10	0.72032	D	0.01	.	15.2087	0.73202	1.0:0.0:0.0:0.0	.	123;114;123	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	E	123	ENSP00000351539:K123E	ENSP00000351539:K123E	K	+	1	0	ZNF238	242284066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.003000	0.58678	0.528000	0.53228	AAA		PASS	0.458	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		12	13	12	13	---	---	---	---
OR2AK2	391191	broad.mit.edu	37	1	248129356	248129356	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:248129356C>A	ENST00000366480.3	+	1	822	c.723C>A	c.(721-723)ttC>ttA	p.F241L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F241L(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)			TTGTGGTATTCCAGATGAGCT	0.463																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(721-723)TTC>TTA		olfactory receptor, family 2, subfamily AK,							138.0	116.0	124.0					1																	248129356		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129356C>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.723C>A	1.37:g.248129356C>A	ENSP00000355436:p.Phe241Leu					OR2L13_uc001ids.2_Intron	p.F241L	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	723	+	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)		241			Cytoplasmic (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.723C>A	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	0.067	-1.209956	0.01555	.	.	ENSG00000187080	ENST00000366480	T	0.00013	9.26	3.04	-2.1	0.07210	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.00686	-1.255	0.09310	N	1	B	0.13594	0.008	B	0.18561	0.022	T	0.17592	-1.0364	9	0.02654	T	1	.	7.0071	0.24842	0.0:0.4657:0.3387:0.1956	.	241	Q8NG84	O2AK2_HUMAN	L	241	ENSP00000355436:F241L	ENSP00000355436:F241L	F	+	3	2	OR2AK2	246195979	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.080000	0.03407	-0.183000	0.10585	0.462000	0.41574	TTC		PASS	0.463	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		4	27	4	27	---	---	---	---
OR2T12	127064	broad.mit.edu	37	1	248458694	248458694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:248458694G>A	ENST00000317996.1	-	1	186	c.187C>T	c.(187-189)Caa>Taa	p.Q63*		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q63*(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGGGAAAGTTGGCTCAGGAGG	0.557																																						uc010pzj.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(187-189)CAA>TAA		olfactory receptor, family 2, subfamily T,							52.0	42.0	45.0					1																	248458694		2202	4295	6497	SO:0001587	stop_gained	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458694G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.187C>T	1.37:g.248458694G>A	ENSP00000324583:p.Gln63*						p.Q63*	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	187	-	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)		63			Helical; Name=2; (Potential).			Nonsense_Mutation	SNP	ENST00000317996.1	37	c.187C>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	13.74	2.328670	0.41197	.	.	ENSG00000177201	ENST00000317996	.	.	.	1.55	-3.09	0.05331	.	0.000000	0.33691	U	0.004647	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	1.3218	0.02118	0.1613:0.145:0.3966:0.2971	.	.	.	.	X	63	.	ENSP00000324583:Q63X	Q	-	1	0	OR2T12	246525317	0.000000	0.05858	0.076000	0.20297	0.362000	0.29581	-0.061000	0.11693	-0.207000	0.10187	0.175000	0.17021	CAA		PASS	0.557	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		41	24	41	24	---	---	---	---
OR2T6	254879	broad.mit.edu	37	1	248551010	248551010	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:248551010T>C	ENST00000355728.2	+	1	101	c.101T>C	c.(100-102)gTc>gCc	p.V34A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V34A(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			ATTTGTGCCGTCTTCTTCATG	0.463																																						uc001iei.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(100-102)GTC>GCC		olfactory receptor, family 2, subfamily T,							192.0	168.0	176.0					1																	248551010		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551010T>C	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.101T>C	1.37:g.248551010T>C	ENSP00000347965:p.Val34Ala						p.V34A	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	101	+	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)		34			Helical; Name=1; (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.101T>C	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	T	9.492	1.100955	0.20552	.	.	ENSG00000198104	ENST00000355728	T	0.03358	3.96	4.9	4.9	0.64082	.	1.264950	0.05597	N	0.575585	T	0.06735	0.0172	L	0.55017	1.72	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.29701	-1.0003	10	0.72032	D	0.01	.	8.3045	0.32034	0.1764:0.0:0.0:0.8236	.	34	Q8NHC8	OR2T6_HUMAN	A	34	ENSP00000347965:V34A	ENSP00000347965:V34A	V	+	2	0	OR2T6	246617633	0.001000	0.12720	0.767000	0.31495	0.383000	0.30230	1.085000	0.30840	1.962000	0.57031	0.523000	0.50628	GTC		PASS	0.463	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		14	41	14	41	---	---	---	---
OR2T3	343173	broad.mit.edu	37	1	248636960	248636960	+	Silent	SNP	G	G	T	rs146200189		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:248636960G>T	ENST00000359594.2	+	1	334	c.309G>T	c.(307-309)ggG>ggT	p.G103G		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G103G(2)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGGCTGTGGGATCCAGATGT	0.547																																						uc001iel.1																			2	Substitution - coding silent(2)	p.G103G(1)	lung(1)|skin(1)	skin(1)	1						c.(307-309)GGG>GGT		olfactory receptor, family 2, subfamily T,							120.0	108.0	112.0					1																	248636960		2193	4298	6491	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248636960G>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.309G>T	1.37:g.248636960G>T							p.G103G	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	309	+	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)		103			Extracellular (Potential).		B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.309G>T	CCDS31117.1																																																																																				PASS	0.547	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		7	38	7	38	---	---	---	---
OR2T10	127069	broad.mit.edu	37	1	248756338	248756338	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:248756338G>T	ENST00000330500.2	-	1	762	c.732C>A	c.(730-732)caC>caA	p.H244Q	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H244Q(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			CCACTGTAATGTGGGAGGAGC	0.453																																						uc010pzn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(730-732)CAC>CAA		olfactory receptor, family 2, subfamily T,							78.0	77.0	77.0					1																	248756338		2051	4236	6287	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756338G>T		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.732C>A	1.37:g.248756338G>T	ENSP00000329210:p.His244Gln						p.H244Q	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	732	-	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)		244			Helical; Name=6; (Potential).		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.732C>A	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	9.966	1.224119	0.22457	.	.	ENSG00000184022	ENST00000330500	T	0.00307	8.17	2.35	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01189	0.0039	H	0.98005	4.125	0.25250	N	0.989683	D	0.89917	1.0	D	0.97110	1.0	T	0.15780	-1.0425	9	0.87932	D	0	.	11.4637	0.50225	0.0:0.0:1.0:0.0	.	244	Q8NGZ9	O2T10_HUMAN	Q	244	ENSP00000329210:H244Q	ENSP00000329210:H244Q	H	-	3	2	OR2T10	246822961	0.949000	0.32298	0.690000	0.30148	0.059000	0.15707	0.673000	0.25203	1.123000	0.41961	0.447000	0.29281	CAC		PASS	0.453	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		9	21	9	21	---	---	---	---
ODC1	4953	broad.mit.edu	37	2	10582277	10582277	+	Silent	SNP	C	C	A	rs114981547		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:10582277C>A	ENST00000234111.4	-	9	1284	c.774G>T	c.(772-774)gcG>gcT	p.A258A	ODC1_ENST00000446285.1_5'Flank|ODC1_ENST00000405333.1_Silent_p.A258A	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	258					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)	p.A258A(1)		NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	ATTTGTCCAACGCTGGGTTGA	0.463																																						uc010exg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(772-774)GCG>GCT		ornithine decarboxylase 1	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)						64.0	67.0	66.0					2																	10582277		2203	4300	6503	SO:0001819	synonymous_variant	4953				polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding	g.chr2:10582277C>A		CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.774G>T	2.37:g.10582277C>A						ODC1_uc002ran.1_5'Flank|ODC1_uc002rao.1_Silent_p.A258A|ODC1_uc010yjd.1_Silent_p.A128A	p.A258A	NM_002539	NP_002530	P11926	DCOR_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	9	1208	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		258					Q53TU3|Q6LDS9	Silent	SNP	ENST00000234111.4	37	c.774G>T	CCDS1672.1																																																																																				PASS	0.463	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206896.2			40	24	40	24	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61412642	61412642	+	IGR	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:61412642G>C	ENST00000398571.2	-	0	11357				AHSA2_ENST00000394457.3_Missense_Mutation_p.Q27H|AHSA2_ENST00000357022.2_Missense_Mutation_p.Q27H|AHSA2_ENST00000410073.1_Missense_Mutation_p.Q27H|AHSA2_ENST00000489653.1_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						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.Q27H(1)|p.Q190H(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)			TCCAGGTTCAGGCCTCATCTC	0.453																																						uc002sbc.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(79-81)CAG>CAC		AHA1, activator of heat shock 90kDa protein							155.0	145.0	148.0					2																	61412642		2203	4300	6503	SO:0001628	intergenic_variant	130872				response to stress	cytoplasm	ATPase activator activity|chaperone binding	g.chr2:61412642G>C	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		2.37:g.61412642G>C						AHSA2_uc002sbb.1_RNA	p.Q27H	NM_152392	NP_689605	Q719I0	AHSA2_HUMAN	Epithelial(17;0.0994)		4	1667	+			189					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.81G>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	11.72	1.721581	0.30503	.	.	ENSG00000173209	ENST00000357022;ENST00000394457;ENST00000430934;ENST00000410073	.	.	.	5.39	4.5	0.54988	.	.	.	.	.	T	0.24084	0.0583	L	0.40543	1.245	0.25189	N	0.990148	P	0.48640	0.913	B	0.34722	0.188	T	0.05784	-1.0864	8	0.14656	T	0.56	.	11.4051	0.49894	0.0:0.0:0.8189:0.1811	.	189	Q719I0	AHSA2_HUMAN	H	27;27;190;27	.	ENSP00000349525:Q27H	Q	+	3	2	AHSA2	61266146	.	.	0.660000	0.29694	0.537000	0.34900	.	.	1.248000	0.43934	0.655000	0.94253	CAG		PASS	0.453	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			15	230	15	230	---	---	---	---
OTX1	5013	broad.mit.edu	37	2	63282959	63282959	+	Silent	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:63282959G>C	ENST00000282549.2	+	5	849	c.573G>C	c.(571-573)gtG>gtC	p.V191V	OTX1_ENST00000366671.3_Silent_p.V191V	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	191					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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.V191V(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCGCGTCCGTGTCGGTGCCGG	0.682																																						uc002scd.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)	2						c.(571-573)GTG>GTC		orthodenticle homeobox 1							13.0	15.0	14.0					2																	63282959		2192	4287	6479	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63282959G>C		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.573G>C	2.37:g.63282959G>C						OTX1_uc010ypt.1_Silent_p.V125V	p.V191V	NM_014562	NP_055377	P32242	OTX1_HUMAN			5	821	+	Lung NSC(7;0.121)|all_lung(7;0.211)		191					A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.573G>C	CCDS1873.1																																																																																				PASS	0.682	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			23	43	23	43	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71795186	71795186	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:71795186G>A	ENST00000258104.3	+	25	2894	c.2617G>A	c.(2617-2619)Ggg>Agg	p.G873R	DYSF_ENST00000394120.2_Missense_Mutation_p.G874R|DYSF_ENST00000410020.3_Missense_Mutation_p.G891R|DYSF_ENST00000409366.1_Missense_Mutation_p.G874R|DYSF_ENST00000409582.3_Missense_Mutation_p.G890R|DYSF_ENST00000429174.2_Missense_Mutation_p.G873R|DYSF_ENST00000409651.1_Missense_Mutation_p.G905R|DYSF_ENST00000410041.1_Missense_Mutation_p.G891R|DYSF_ENST00000413539.2_Missense_Mutation_p.G904R|DYSF_ENST00000409762.1_Missense_Mutation_p.G890R|DYSF_ENST00000409744.1_Missense_Mutation_p.G860R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	873					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.G873R(1)|p.G891R(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTTTGCTGAGGGGAAGCTGTC	0.597																																						uc002sie.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(2617-2619)GGG>AGG		dysferlin isoform 8							167.0	154.0	159.0					2																	71795186		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71795186G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2617G>A	2.37:g.71795186G>A	ENSP00000258104:p.Gly873Arg					DYSF_uc010feg.2_Missense_Mutation_p.G904R|DYSF_uc010feh.2_Missense_Mutation_p.G859R|DYSF_uc002sig.3_Missense_Mutation_p.G859R|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.G873R|DYSF_uc010fef.2_Missense_Mutation_p.G890R|DYSF_uc010fei.2_Missense_Mutation_p.G890R|DYSF_uc010fek.2_Missense_Mutation_p.G891R|DYSF_uc010fej.2_Missense_Mutation_p.G860R|DYSF_uc010fel.2_Missense_Mutation_p.G860R|DYSF_uc010feo.2_Missense_Mutation_p.G905R|DYSF_uc010fem.2_Missense_Mutation_p.G874R|DYSF_uc010fen.2_Missense_Mutation_p.G891R|DYSF_uc002sif.2_Missense_Mutation_p.G874R	p.G873R	NM_003494	NP_003485	O75923	DYSF_HUMAN			25	2993	+			873			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.2617G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328837	0.81690	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.85411	-1.97;-1.97;-1.96;-1.98;-1.98;-1.97;-1.98;-1.97;-1.98;-1.96;-1.96	4.94	4.06	0.47325	.	0.055773	0.64402	N	0.000001	D	0.91469	0.7307	M	0.80332	2.49	0.54753	D	0.999988	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	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;0.999;1.0;0.999;0.998;1.0;1.0;1.0	D	0.91650	0.5334	10	0.87932	D	0	-26.713	10.8171	0.46583	0.0927:0.0:0.9073:0.0	.	905;891;874;860;891;860;890;859;904;890;873;859;874;873	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	R	904;890;890;873;873;905;874;860;874;891;891	ENSP00000407046:G904R;ENSP00000387137:G890R;ENSP00000386547:G890R;ENSP00000398305:G873R;ENSP00000258104:G873R;ENSP00000386683:G905R;ENSP00000377678:G874R;ENSP00000386285:G860R;ENSP00000386512:G874R;ENSP00000386881:G891R;ENSP00000386617:G891R	ENSP00000258104:G873R	G	+	1	0	DYSF	71648694	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.869000	0.99810	1.080000	0.41073	0.448000	0.29417	GGG		PASS	0.597	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		21	76	21	76	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73716954	73716954	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:73716954G>C	ENST00000264448.6	+	10	7976	c.7865G>C	c.(7864-7866)aGa>aCa	p.R2622T	ALMS1_ENST00000409009.1_Missense_Mutation_p.R2580T|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2622					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R2622T(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCATCATGCAGAGCCAAGCAT	0.448																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(7870-7872)AGA>ACA		Alstrom syndrome 1							78.0	76.0	77.0					2																	73716954		1959	4150	6109	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73716954G>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7865G>C	2.37:g.73716954G>C	ENSP00000264448:p.Arg2622Thr					ALMS1_uc002sjf.1_Missense_Mutation_p.R2580T|ALMS1_uc002sjg.2_Missense_Mutation_p.R2010T|ALMS1_uc002sjh.1_Missense_Mutation_p.R2010T	p.R2624T	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			12	7982	+			2622					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.7871G>C	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	2.338	-0.351737	0.05173	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.13307	2.6;2.6	4.43	-0.86	0.10680	.	0.395814	0.22011	N	0.065862	T	0.09818	0.0241	L	0.48642	1.525	0.24255	N	0.995308	B;B;B	0.26602	0.154;0.06;0.06	B;B;B	0.23419	0.046;0.046;0.046	T	0.18085	-1.0348	10	0.51188	T	0.08	.	4.6094	0.12395	0.302:0.3365:0.3615:0.0	.	2622;2580;2622	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	T	2580;2622	ENSP00000386627:R2580T;ENSP00000264448:R2622T	ENSP00000264448:R2622T	R	+	2	0	ALMS1	73570462	0.831000	0.29352	0.045000	0.18777	0.008000	0.06430	0.465000	0.22004	-0.167000	0.10871	-0.377000	0.06932	AGA		PASS	0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		12	95	12	95	---	---	---	---
ACTG2	72	broad.mit.edu	37	2	74136211	74136211	+	Silent	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:74136211C>T	ENST00000409624.1	+	6	1039	c.396C>T	c.(394-396)gcC>gcT	p.A132A	ACTG2_ENST00000345517.3_Silent_p.A132A|ACTG2_ENST00000409731.3_Silent_p.A89A			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	132					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.A132A(1)		large_intestine(3)|lung(14)|skin(1)	18						ATGTCCCTGCCATGTACGTCG	0.443																																						uc002sjw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(394-396)GCC>GCT		actin, gamma 2 propeptide							202.0	185.0	190.0					2																	74136211		2203	4300	6503	SO:0001819	synonymous_variant	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74136211C>T		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.396C>T	2.37:g.74136211C>T						ACTG2_uc010fey.2_Silent_p.A132A|ACTG2_uc010yrn.1_Silent_p.A89A	p.A132A	NM_001615	NP_001606	P63267	ACTH_HUMAN			5	518	+			132					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Silent	SNP	ENST00000409624.1	37	c.396C>T	CCDS1930.1																																																																																				PASS	0.443	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		29	117	29	117	---	---	---	---
ACTG2	72	broad.mit.edu	37	2	74140623	74140623	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:74140623G>T	ENST00000409624.1	+	7	1106	c.463G>T	c.(463-465)Gat>Tat	p.D155Y	ACTG2_ENST00000345517.3_Missense_Mutation_p.D155Y|ACTG2_ENST00000409731.3_Missense_Mutation_p.D112Y			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	155					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.D155Y(1)		large_intestine(3)|lung(14)|skin(1)	18						CATCGTCCTGGATTCAGGTGA	0.517																																						uc002sjw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(463-465)GAT>TAT		actin, gamma 2 propeptide							117.0	108.0	111.0					2																	74140623		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74140623G>T		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.463G>T	2.37:g.74140623G>T	ENSP00000386857:p.Asp155Tyr					ACTG2_uc010fey.2_Missense_Mutation_p.D155Y|ACTG2_uc010yrn.1_Missense_Mutation_p.D112Y	p.D155Y	NM_001615	NP_001606	P63267	ACTH_HUMAN			6	585	+			155					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.463G>T	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518955	0.64634	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.97688	-4.49;-4.49;-4.49	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.99342	0.9769	H	0.99042	4.41	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98372	1.0554	10	0.87932	D	0	.	17.7868	0.88540	0.0:0.0:1.0:0.0	.	112;155	E9PG30;P63267	.;ACTH_HUMAN	Y	112;155;155	ENSP00000386929:D112Y;ENSP00000295137:D155Y;ENSP00000386857:D155Y	ENSP00000295137:D155Y	D	+	1	0	ACTG2	73994131	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.601000	0.98297	2.809000	0.96659	0.557000	0.71058	GAT		PASS	0.517	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		32	61	32	61	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75115034	75115034	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:75115034G>C	ENST00000290573.2	+	16	2824	c.2224G>C	c.(2224-2226)Gag>Cag	p.E742Q	HK2_ENST00000409174.1_Missense_Mutation_p.E714Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	742	Catalytic.|Hexokinase type-2 2.|Substrate 2 binding.				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.E742Q(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						TTGCAGGTTCGAGAAAATGAT	0.502																																						uc002snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(2224-2226)GAG>CAG		hexokinase 2							169.0	145.0	153.0					2																	75115034		2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75115034G>C		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.2224G>C	2.37:g.75115034G>C	ENSP00000290573:p.Glu742Gln						p.E742Q	NM_000189	NP_000180	P52789	HXK2_HUMAN			16	4150	+			742			Substrate 2 binding.|Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2224G>C	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317087	0.81469	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.99429	-5.89;-5.89	4.58	4.58	0.56647	Hexokinase, C-terminal (1);	0.091176	0.85682	D	0.000000	D	0.99768	0.9905	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96797	0.9586	10	0.87932	D	0	-39.1291	15.254	0.73571	0.0:0.0:1.0:0.0	.	742	P52789	HXK2_HUMAN	Q	742;742;714	ENSP00000290573:E742Q;ENSP00000387140:E714Q	ENSP00000290573:E742Q	E	+	1	0	HK2	74968542	1.000000	0.71417	0.992000	0.48379	0.767000	0.43475	9.597000	0.98273	2.535000	0.85469	0.555000	0.69702	GAG		PASS	0.502	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		9	97	9	97	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79349232	79349232	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:79349232G>T	ENST00000233735.1	+	4	405	c.302G>T	c.(301-303)gGc>gTc	p.G101V		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	101	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.			G -> A (in Ref. 2; AAA36559). {ECO:0000305}.	positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.G101V(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GTCTGGATTGGCCTCCATGAC	0.498																																						uc002snz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)GGC>GTC		regenerating islet-derived 1 alpha precursor							123.0	109.0	114.0					2																	79349232		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349232G>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.302G>T	2.37:g.79349232G>T	ENSP00000233735:p.Gly101Val					REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.G101V	p.G101V	NM_002909	NP_002900	P05451	REG1A_HUMAN			4	405	+			101	G -> A (in Ref. 2; AAA36559).		C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.302G>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	16.03	3.008417	0.54361	.	.	ENSG00000115386	ENST00000233735	T	0.38240	1.15	3.51	3.51	0.40186	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.38111	N	0.001817	T	0.71945	0.3400	H	0.98629	4.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81015	-0.1124	10	0.87932	D	0	.	10.7109	0.45982	0.0:0.0:1.0:0.0	.	101	P05451	REG1A_HUMAN	V	101	ENSP00000233735:G101V	ENSP00000233735:G101V	G	+	2	0	REG1A	79202740	0.973000	0.33851	0.967000	0.41034	0.909000	0.53808	2.321000	0.43805	1.956000	0.56807	0.563000	0.77884	GGC		PASS	0.498	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		20	73	20	73	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79384779	79384779	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:79384779C>A	ENST00000409839.3	-	5	415	c.379G>T	c.(379-381)Gtg>Ttg	p.V127L	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.V127L|REG3A_ENST00000393878.1_Missense_Mutation_p.V127L	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	127	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|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 space (GO:0005615)	carbohydrate binding (GO:0030246)	p.V127L(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TAATTCATCACATCACTGCTA	0.542																																						uc002sod.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(379-381)GTG>TTG		pancreatitis-associated protein precursor							140.0	131.0	134.0					2																	79384779		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79384779C>A	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.379G>T	2.37:g.79384779C>A	ENSP00000386630:p.Val127Leu					REG3A_uc002soe.1_Missense_Mutation_p.V127L|REG3A_uc002sof.1_Missense_Mutation_p.V127L	p.V127L	NM_138938	NP_620355	Q06141	REG3A_HUMAN			4	634	-			127			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.379G>T	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.253652	0.01457	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.18657	2.2;2.2;2.2	3.87	-7.73	0.01245	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.485095	0.17272	N	0.180332	T	0.09247	0.0228	L	0.31845	0.965	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31888	-0.9927	10	0.11794	T	0.64	.	6.2064	0.20606	0.2457:0.181:0.0:0.5733	.	127	Q06141	REG3A_HUMAN	L	127	ENSP00000386630:V127L;ENSP00000377456:V127L;ENSP00000304311:V127L	ENSP00000304311:V127L	V	-	1	0	REG3A	79238287	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.344000	0.01098	-2.123000	0.00823	-0.339000	0.08088	GTG		PASS	0.542	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		22	84	22	84	---	---	---	---
IGKV1-27	28935	broad.mit.edu	37	2	89513182	89513182	+	RNA	SNP	A	A	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:89513182A>C	ENST00000498435.1	-	0	107									immunoglobulin kappa variable 1-27																		AGACTGGGTCATCTGGATGTC	0.438																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							26.0	24.0	25.0					2																	89513182		1778	4025	5803			0							g.chr2:89513182A>C	X63398		2p11.2	2012-02-10			ENSG00000244575	ENSG00000244575		"""Immunoglobulins / IGK locus"""	5735	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV127, A20			OTTHUMG00000151640		2.37:g.89513182A>C						uc002stl.2_Intron								23		-									RNA	SNP	ENST00000498435.1	37	c.2706T>G																																																																																					PASS	0.438	IGKV1-27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323389.1	NG_000834		22	40	22	40	---	---	---	---
IGKV1D-43	28891	broad.mit.edu	37	2	90249332	90249332	+	RNA	SNP	C	C	A	rs568196134		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:90249332C>A	ENST00000468879.1	+	0	469									immunoglobulin kappa variable 1D-43																		ACACTCTCACCATCAGCAGCC	0.483													c|||	1	0.000199681	0.0	0.0	5008	,	,		17411	0.001		0.0	False		,,,				2504	0.0					uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							178.0	167.0	170.0					2																	90249332		1902	4116	6018			0							g.chr2:90249332C>A	X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249332C>A														28		+									RNA	SNP	ENST00000468879.1	37	c.3875C>A																																																																																					PASS	0.483	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2	NG_000833		53	157	53	157	---	---	---	---
EPB41L5	57669	broad.mit.edu	37	2	120847927	120847927	+	Missense_Mutation	SNP	A	A	T	rs181540730		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:120847927A>T	ENST00000263713.5	+	12	1092	c.878A>T	c.(877-879)aAa>aTa	p.K293I	EPB41L5_ENST00000452780.1_Missense_Mutation_p.K293I|EPB41L5_ENST00000443902.2_Missense_Mutation_p.K293I|EPB41L5_ENST00000443124.1_Missense_Mutation_p.K293I|EPB41L5_ENST00000331393.4_Missense_Mutation_p.K293I	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	293	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)		p.K293I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TTTCAGGGCAAAGAACAGGAA	0.358																																						uc002tmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(877-879)AAA>ATA		erythrocyte membrane protein band 4.1 like 5							96.0	96.0	96.0					2																	120847927		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120847927A>T	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.878A>T	2.37:g.120847927A>T	ENSP00000263713:p.Lys293Ile					EPB41L5_uc010flk.2_Missense_Mutation_p.K293I|EPB41L5_uc010fll.2_Missense_Mutation_p.K293I|EPB41L5_uc002tmh.3_Missense_Mutation_p.K293I|EPB41L5_uc010flm.2_Missense_Mutation_p.K97I	p.K293I	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN			12	1004	+			293			FERM.		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.878A>T	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228438	0.79576	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	5.41	4.24	0.50183	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.89266	0.6666	L	0.36672	1.1	0.80722	D	1	D;D;P;D	0.76494	0.981;0.995;0.869;0.999	D;D;P;D	0.74348	0.911;0.931;0.642;0.983	D	0.89483	0.3751	10	0.87932	D	0	.	11.9842	0.53138	0.8701:0.0:0.0:0.1299	.	293;293;293;293	Q9HCM4-3;Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;.;E41L5_HUMAN	I	293	ENSP00000263713:K293I;ENSP00000393856:K293I;ENSP00000329687:K293I;ENSP00000393722:K293I;ENSP00000390439:K293I	ENSP00000263713:K293I	K	+	2	0	EPB41L5	120564397	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.148000	0.64857	0.976000	0.38417	0.477000	0.44152	AAA		PASS	0.358	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		241	63	241	63	---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135893434	135893434	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:135893434C>T	ENST00000264158.8	+	17	1898	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.R575W|SNORA40_ENST00000385573.1_RNA|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.R619W|ZRANB3_ENST00000412849.1_5'Flank|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	619					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.R619W(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GCCGGAAGGACGGCTCTATCA	0.423																																						uc002tuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1855-1857)CGG>TGG		RAB3 GTPase-activating protein							103.0	104.0	103.0					2																	135893434		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135893434C>T	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1855C>T	2.37:g.135893434C>T	ENSP00000264158:p.Arg619Trp					RAB3GAP1_uc010fnf.2_Missense_Mutation_p.R619W|RAB3GAP1_uc010fng.2_Missense_Mutation_p.R444W|RAB3GAP1_uc010fnh.1_RNA	p.R619W	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	17	1880	+			619	R->A: No effect.				A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.1855C>T	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603111	0.66445	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.54866	0.56;0.55;0.55	5.4	3.57	0.40892	.	0.106801	0.64402	D	0.000004	T	0.72867	0.3514	M	0.82716	2.605	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.73528	-0.3954	10	0.37606	T	0.19	-11.5086	14.5503	0.68061	0.2653:0.7347:0.0:0.0	.	619;619	C9J837;Q15042	.;RB3GP_HUMAN	W	619;575;619	ENSP00000264158:R619W;ENSP00000444306:R575W;ENSP00000411418:R619W	ENSP00000264158:R619W	R	+	1	2	RAB3GAP1	135609904	0.984000	0.35163	0.989000	0.46669	0.896000	0.52359	1.996000	0.40776	0.635000	0.30488	-1.312000	0.01307	CGG		PASS	0.423	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		24	24	24	24	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145157072	145157072	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:145157072G>T	ENST00000558170.2	-	8	2866	c.1682C>A	c.(1681-1683)aCt>aAt	p.T561N	ZEB2_ENST00000409487.3_Missense_Mutation_p.T561N|ZEB2_ENST00000303660.4_Missense_Mutation_p.T561N|ZEB2_ENST00000539609.3_Missense_Mutation_p.T537N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	561					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.T561N(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATCTATTAAAGTACGTAGCTT	0.393																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1681-1683)ACT>AAT		zinc finger homeobox 1b							178.0	179.0	178.0					2																	145157072		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157072G>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1682C>A	2.37:g.145157072G>T	ENSP00000454157:p.Thr561Asn					ZEB2_uc002tvv.2_Missense_Mutation_p.T555N|ZEB2_uc010zbm.1_Missense_Mutation_p.T532N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.T590N	p.T561N	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2162	-			561					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1682C>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	9.725	1.160776	0.21538	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.74	5.74	0.90152	.	0.088128	0.85682	D	0.000000	T	0.74321	0.3701	L	0.40543	1.245	0.45979	D	0.998797	B;B;B;B	0.33694	0.312;0.421;0.421;0.389	B;B;B;B	0.35550	0.205;0.039;0.039;0.146	T	0.72896	-0.4153	10	0.46703	T	0.11	-10.4715	19.9312	0.97120	0.0:0.0:1.0:0.0	.	537;426;560;561	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	N	537;561;561;561	ENSP00000443792:T537N;ENSP00000302501:T561N;ENSP00000386854:T561N;ENSP00000395496:T561N	ENSP00000302501:T561N	T	-	2	0	ZEB2	144873542	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.068000	0.76748	2.700000	0.92200	0.650000	0.86243	ACT		PASS	0.393	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		4	68	4	68	---	---	---	---
CSRNP3	80034	broad.mit.edu	37	2	166514429	166514429	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:166514429C>A	ENST00000342316.4	+	3	579	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	CSRNP3_ENST00000409420.1_Missense_Mutation_p.Q135K|CSRNP3_ENST00000314499.7_Missense_Mutation_p.Q103K	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	103					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q103K(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CAGCGTGCGCCAGTACACTCT	0.547																																						uc002udf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(307-309)CAG>AAG		cysteine-serine-rich nuclear protein 3							61.0	52.0	55.0					2																	166514429		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166514429C>A	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.307C>A	2.37:g.166514429C>A	ENSP00000344042:p.Gln103Lys					CSRNP3_uc002udg.2_Missense_Mutation_p.Q103K	p.Q103K	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			5	683	+			103					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.307C>A	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524080	0.85600	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	N	0.19112	0.55	0.58432	D	0.999992	D	0.61080	0.989	D	0.67725	0.953	T	0.07927	-1.0747	10	0.17832	T	0.49	-18.9888	19.2061	0.93730	0.0:1.0:0.0:0.0	.	103	Q8WYN3	CSRN3_HUMAN	K	103;110;103;103;103;135	ENSP00000412081:Q103K;ENSP00000318258:Q103K;ENSP00000386278:Q103K;ENSP00000344042:Q103K;ENSP00000387195:Q135K	ENSP00000318258:Q103K	Q	+	1	0	CSRNP3	166222675	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	5.959000	0.70339	2.604000	0.88044	0.563000	0.77884	CAG		PASS	0.547	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		9	14	9	14	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168105796	168105796	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:168105796A>T	ENST00000409195.1	+	9	7983	c.7894A>T	c.(7894-7896)Aca>Tca	p.T2632S	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2632S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2410S|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2457					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.T2632S(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTCTCCACAACATCGCCAGA	0.448																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(7894-7896)ACA>TCA		xin actin-binding repeat containing 2 isoform 1							75.0	74.0	74.0					2																	168105796		1928	4139	6067	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105796A>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7894A>T	2.37:g.168105796A>T	ENSP00000386840:p.Thr2632Ser					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.T2457S|XIRP2_uc010fpq.2_Missense_Mutation_p.T2410S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.T2632S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7912	+			2457					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.7894A>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	1.668	-0.509733	0.04231	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02395	4.31;4.31;4.31	5.89	0.584	0.17422	.	0.649129	0.15974	N	0.235608	T	0.01976	0.0062	L	0.35414	1.06	0.09310	N	1	B;B;B	0.16603	0.01;0.018;0.018	B;B;B	0.17722	0.009;0.019;0.019	T	0.48625	-0.9019	10	0.11485	T	0.65	-3.867	3.3241	0.07061	0.4921:0.0:0.2952:0.2127	.	2457;2457;2410	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	2632;2632;2410;46	ENSP00000386840:T2632S;ENSP00000295237:T2632S;ENSP00000387255:T2410S	ENSP00000295237:T2632S	T	+	1	0	XIRP2	167814042	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	0.007000	0.13174	0.158000	0.19367	0.533000	0.62120	ACA		PASS	0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		22	25	22	25	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179631324	179631324	+	Missense_Mutation	SNP	G	G	C	rs140664731	byFrequency	TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:179631324G>C	ENST00000591111.1	-	41	9711	c.9487C>G	c.(9487-9489)Cgt>Ggt	p.R3163G	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R3163G|TTN_ENST00000460472.2_Missense_Mutation_p.R3117G|TTN_ENST00000359218.5_Missense_Mutation_p.R3117G|TTN_ENST00000342175.6_Missense_Mutation_p.R3117G|TTN_ENST00000342992.6_Missense_Mutation_p.R3163G|TTN_ENST00000589042.1_Missense_Mutation_p.R3163G			Q8WZ42	TITIN_HUMAN	titin	13495					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.R3117G(3)|p.R3163G(3)		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)			ACAACAGCACGCTGTTTCTCA	0.363																																						uc010zfg.1																			6	Substitution - Missense(6)		lung(6)	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.(9487-9489)CGT>GGT		titin isoform N2-A							96.0	85.0	89.0					2																	179631324		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179631324G>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.9487C>G	2.37:g.179631324G>C	ENSP00000465570:p.Arg3163Gly					TTN_uc010zfh.1_Missense_Mutation_p.R3117G|TTN_uc010zfi.1_Missense_Mutation_p.R3117G|TTN_uc010zfj.1_Missense_Mutation_p.R3117G|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.R3163G	p.R3163G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		41	9711	-			3163					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.9487C>G		.	.	.	.	.	.	.	.	.	.	G	10.96	1.499508	0.26861	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.7	5.7	0.88788	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78483	0.4290	L	0.53617	1.68	0.27151	N	0.961408	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.71533	-0.4564	9	0.87932	D	0	.	13.7776	0.63064	0.0:0.0:0.744:0.256	.	3117;3117;3117;3163;3163	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	3163;3117;3117;3117;3117;3163	ENSP00000343764:R3163G;ENSP00000434586:R3117G;ENSP00000340554:R3117G;ENSP00000352154:R3117G;ENSP00000354117:R3163G	ENSP00000340554:R3117G	R	-	1	0	TTN	179339569	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.174000	0.50847	2.695000	0.91970	0.591000	0.81541	CGT		PASS	0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	11	20	11	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179644751	179644751	+	Silent	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:179644751C>A	ENST00000591111.1	-	22	3929	c.3705G>T	c.(3703-3705)gtG>gtT	p.V1235V	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Silent_p.V1235V|TTN_ENST00000460472.2_Silent_p.V1189V|TTN_ENST00000359218.5_Silent_p.V1189V|TTN_ENST00000342175.6_Silent_p.V1189V|TTN_ENST00000342992.6_Silent_p.V1235V|TTN_ENST00000589042.1_Silent_p.V1235V			Q8WZ42	TITIN_HUMAN	titin	33440					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.V1189V(3)|p.V1235V(3)		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)			AAGTTCTGACCACTACAGTAT	0.303																																						uc010zfg.1																			6	Substitution - coding silent(6)		lung(6)	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.(3703-3705)GTG>GTT		titin isoform N2-A							126.0	116.0	120.0					2																	179644751		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179644751C>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.3705G>T	2.37:g.179644751C>A						TTN_uc010zfh.1_Silent_p.V1189V|TTN_uc010zfi.1_Silent_p.V1189V|TTN_uc010zfj.1_Silent_p.V1189V|TTN_uc002unb.2_Silent_p.V1235V	p.V1235V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		22	3929	-			1235					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	Silent	SNP	ENST00000591111.1	37	c.3705G>T																																																																																					PASS	0.303	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	26	26	26	---	---	---	---
UBE2E3	10477	broad.mit.edu	37	2	181927572	181927572	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:181927572A>G	ENST00000410062.4	+	6	974	c.581A>G	c.(580-582)cAc>cGc	p.H194R	UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000602710.1_Missense_Mutation_p.H194R|UBE2E3_ENST00000602959.1_Missense_Mutation_p.H194R|UBE2E3_ENST00000392415.2_Missense_Mutation_p.H194R	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	194					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.H194R(1)		breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						AGAGCAGAACACGACAGGATA	0.438																																						uc002unq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(580-582)CAC>CGC		ubiquitin-conjugating enzyme E2E 3							104.0	91.0	96.0					2																	181927572		2203	4299	6502	SO:0001583	missense	10477				protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr2:181927572A>G	AB017644	CCDS2282.1	2q31.3	2011-05-19	2011-05-19		ENSG00000170035	ENSG00000170035		"""Ubiquitin-conjugating enzymes E2"""	12479	protein-coding gene	gene with protein product		604151	"""ubiquitin-conjugating enzyme E2E 3 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 3 (UBC4/5 homolog, yeast)"""			10343118	Standard	NM_006357		Approved	UbcH9	uc002unq.1	Q969T4	OTTHUMG00000132585	ENST00000410062.4:c.581A>G	2.37:g.181927572A>G	ENSP00000386788:p.His194Arg					UBE2E3_uc002unr.1_Missense_Mutation_p.H194R|UBE2E3_uc010fri.1_Missense_Mutation_p.H194R	p.H194R	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN			7	800	+			194					B2RAD6|D3DPG3|Q5U0R7|Q7Z4W4	Missense_Mutation	SNP	ENST00000410062.4	37	c.581A>G	CCDS2282.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.022627	0.75275	.	.	ENSG00000170035	ENST00000410114;ENST00000392415;ENST00000410062;ENST00000409247	T;T	0.72167	-0.63;-0.63	5.39	5.39	0.77823	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.82688	0.5091	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84838	0.0806	10	0.87932	D	0	.	15.4068	0.74884	1.0:0.0:0.0:0.0	.	194	Q969T4	UB2E3_HUMAN	R	194	ENSP00000376215:H194R;ENSP00000386788:H194R	ENSP00000376215:H194R	H	+	2	0	UBE2E3	181635817	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.177000	0.94849	2.046000	0.60703	0.377000	0.23210	CAC		PASS	0.438	UBE2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255795.6	NM_006357		11	6	11	6	---	---	---	---
NCKAP1	10787	broad.mit.edu	37	2	183843592	183843592	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:183843592T>A	ENST00000361354.4	-	14	1765	c.1393A>T	c.(1393-1395)Aac>Tac	p.N465Y	NCKAP1_ENST00000360982.2_Missense_Mutation_p.N471Y	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	465					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.N471Y(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GTCATAGTGTTAACAAAAGAG	0.289																																						uc002upc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1393-1395)AAC>TAC		NCK-associated protein 1 isoform 1							55.0	57.0	56.0					2																	183843592		2202	4298	6500	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183843592T>A	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1393A>T	2.37:g.183843592T>A	ENSP00000355348:p.Asn465Tyr					NCKAP1_uc002upb.2_Missense_Mutation_p.N471Y	p.N465Y	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		14	1795	-			465					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.1393A>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.846293	0.91277	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.32272	1.46;1.46	5.44	5.44	0.79542	.	0.040260	0.85682	D	0.000000	T	0.52581	0.1743	M	0.71581	2.175	0.80722	D	1	D;D	0.64830	0.994;0.993	P;P	0.61658	0.892;0.827	T	0.56763	-0.7925	10	0.72032	D	0.01	-7.2865	15.7939	0.78394	0.0:0.0:0.0:1.0	.	465;471	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	Y	465;471	ENSP00000355348:N465Y;ENSP00000354251:N471Y	ENSP00000354251:N471Y	N	-	1	0	NCKAP1	183551837	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.940000	0.87693	2.174000	0.68829	0.528000	0.53228	AAC		PASS	0.289	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		3	19	3	19	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207171568	207171568	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:207171568A>T	ENST00000374423.3	+	5	2702	c.2316A>T	c.(2314-2316)aaA>aaT	p.K772N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	772							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K772N(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTGAAGGAAAAGAACGGCACA	0.423																																						uc002vbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2314-2316)AAA>AAT		zinc finger, DBF-type containing 2							183.0	183.0	183.0					2																	207171568		1924	4125	6049	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207171568A>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.2316A>T	2.37:g.207171568A>T	ENSP00000363545:p.Lys772Asn						p.K772N	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	2566	+			772					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.2316A>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	2.686	-0.274219	0.05679	.	.	ENSG00000204186	ENST00000374423	T	0.47869	0.83	4.12	-6.91	0.01649	.	1.112080	0.06921	N	0.809362	T	0.14743	0.0356	N	0.03608	-0.345	0.09310	N	1	B	0.18310	0.027	B	0.11329	0.006	T	0.18493	-1.0335	10	0.10111	T	0.7	.	0.8187	0.01107	0.2075:0.1306:0.2649:0.397	.	772	Q9HCK1	ZDBF2_HUMAN	N	772	ENSP00000363545:K772N	ENSP00000363545:K772N	K	+	3	2	ZDBF2	206879813	0.873000	0.30073	0.000000	0.03702	0.015000	0.08874	0.174000	0.16743	-1.350000	0.02199	-0.438000	0.05819	AAA		PASS	0.423	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		57	44	57	44	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207176300	207176300	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:207176300G>T	ENST00000374423.3	+	5	7434	c.7048G>T	c.(7048-7050)Ggt>Tgt	p.G2350C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2350							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G2350C(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAACTGAGAGGTAATGAGGT	0.403																																						uc002vbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(7048-7050)GGT>TGT		zinc finger, DBF-type containing 2							44.0	46.0	46.0					2																	207176300		1898	4122	6020	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207176300G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.7048G>T	2.37:g.207176300G>T	ENSP00000363545:p.Gly2350Cys						p.G2350C	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	7298	+			2350					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.7048G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685840	0.47991	.	.	ENSG00000204186	ENST00000374423	T	0.48201	0.82	5.0	-2.86	0.05717	.	.	.	.	.	T	0.36853	0.0982	N	0.22421	0.69	0.09310	N	1	D	0.64830	0.994	P	0.51355	0.667	T	0.33033	-0.9884	9	0.56958	D	0.05	.	5.7469	0.18124	0.5398:0.2975:0.1626:0.0	.	2350	Q9HCK1	ZDBF2_HUMAN	C	2350	ENSP00000363545:G2350C	ENSP00000363545:G2350C	G	+	1	0	ZDBF2	206884545	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.094000	0.11094	-0.109000	0.12044	-0.218000	0.12543	GGT		PASS	0.403	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		5	10	5	10	---	---	---	---
MYL1	4632	broad.mit.edu	37	2	211158470	211158470	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:211158470G>T	ENST00000352451.3	-	5	680	c.533C>A	c.(532-534)tCc>tAc	p.S178Y	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.S134Y	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	178	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.S178Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GCAGCCATTGGAGTCTTCTTG	0.428																																						uc002vec.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(532-534)TCC>TAC		fast skeletal myosin alkali light chain 1							233.0	213.0	220.0					2																	211158470		2203	4300	6503	SO:0001583	missense	4632				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	g.chr2:211158470G>T		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.533C>A	2.37:g.211158470G>T	ENSP00000307280:p.Ser178Tyr					MYL1_uc002veb.2_Missense_Mutation_p.S134Y	p.S178Y	NM_079420	NP_524144	P05976	MYL1_HUMAN		Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)	5	662	-			178			EF-hand 3.		B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	c.533C>A	CCDS2390.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223405	0.79464	.	.	ENSG00000168530	ENST00000341685;ENST00000352451	T;T	0.80480	-1.38;-1.38	5.91	5.91	0.95273	EF-hand-like domain (1);	0.102064	0.64402	D	0.000001	D	0.91106	0.7200	M	0.87328	2.875	0.51767	D	0.999939	D;D	0.61697	0.99;0.984	D;D	0.64506	0.926;0.917	D	0.91680	0.5357	10	0.87932	D	0	.	20.2983	0.98569	0.0:0.0:1.0:0.0	.	178;134	P05976;P05976-2	MYL1_HUMAN;.	Y	134;178	ENSP00000343321:S134Y;ENSP00000307280:S178Y	ENSP00000343321:S134Y	S	-	2	0	MYL1	210866715	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.836000	0.55813	2.802000	0.96397	0.655000	0.94253	TCC		PASS	0.428	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		7	101	7	101	---	---	---	---
PLCD4	84812	broad.mit.edu	37	2	219501078	219501078	+	Silent	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:219501078T>A	ENST00000450993.2	+	15	2484	c.2145T>A	c.(2143-2145)atT>atA	p.I715I	PLCD4_ENST00000432688.1_Silent_p.I747I|PLCD4_ENST00000417849.1_Silent_p.I715I|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	715	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.I715I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATGACTTTATTGGTCAGTACA	0.542																																						uc002vij.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2143-2145)ATT>ATA		phospholipase C, delta 4							235.0	235.0	235.0					2																	219501078		2056	4180	6236	SO:0001819	synonymous_variant	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219501078T>A	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.2145T>A	2.37:g.219501078T>A							p.I715I	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	15	2340	+		Renal(207;0.0915)	715			C2.		Q53FS8	Silent	SNP	ENST00000450993.2	37	c.2145T>A	CCDS46516.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.393201	0.25118	.	.	ENSG00000115556	ENST00000457773	.	.	.	5.17	-2.17	0.07059	.	.	.	.	.	T	0.41511	0.1162	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27971	-1.0058	4	.	.	.	.	2.9014	0.05707	0.1017:0.2023:0.4035:0.2925	.	.	.	.	R	64	.	.	W	+	1	0	PLCD4	219209322	0.004000	0.15560	0.334000	0.25495	0.998000	0.95712	-1.592000	0.02098	-0.535000	0.06307	0.533000	0.62120	TGG		PASS	0.542	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			31	127	31	127	---	---	---	---
STK11IP	114790	broad.mit.edu	37	2	220472790	220472790	+	Missense_Mutation	SNP	C	C	T	rs376877250		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:220472790C>T	ENST00000456909.1	+	14	1331	c.1241C>T	c.(1240-1242)cCg>cTg	p.P414L	STK11IP_ENST00000295641.10_Missense_Mutation_p.P425L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	425					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)	p.P414L(1)|p.P425L(1)|p.P390L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCAGCACCCGGAGCTGGAG	0.637																																						uc002vml.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1273-1275)CCG>CTG		LKB1 interacting protein		G	LEU/PRO	1,4045		0,1,2022	31.0	37.0	35.0		1274	4.8	1.0	2		35	0,8378		0,0,4189	no	missense	STK11IP	NM_052902.2	98	0,1,6211	TT,TC,CC		0.0,0.0247,0.0080	benign	425/1100	220472790	1,12423	2023	4189	6212	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220472790C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1241C>T	2.37:g.220472790C>T	ENSP00000389383:p.Pro414Leu					STK11IP_uc010zll.1_Missense_Mutation_p.P382L|STK11IP_uc002vmm.1_Missense_Mutation_p.P414L	p.P425L	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	1317	+		Renal(207;0.0183)	425					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.1274C>T		.	.	.	.	.	.	.	.	.	.	G	17.61	3.431504	0.62844	2.47E-4	0.0	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.04706	3.57;3.57	4.82	4.82	0.62117	.	0.154623	0.43579	D	0.000558	T	0.03011	0.0089	N	0.08118	0	0.23665	N	0.997162	B;B;B	0.18310	0.001;0.003;0.027	B;B;B	0.13407	0.0;0.0;0.009	T	0.38845	-0.9642	10	0.66056	D	0.02	-20.8207	8.8026	0.34918	0.0792:0.2899:0.6308:0.0	.	393;425;425	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	L	414;393;425	ENSP00000389383:P414L;ENSP00000295641:P425L	ENSP00000295641:P425L	P	+	2	0	STK11IP	220181034	0.994000	0.37717	0.998000	0.56505	0.260000	0.26232	1.769000	0.38522	1.280000	0.44463	-0.216000	0.12614	CCG		PASS	0.637	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		10	8	10	8	---	---	---	---
ACKR3	57007	broad.mit.edu	37	2	237489723	237489723	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:237489723C>G	ENST00000272928.3	+	2	925	c.615C>G	c.(613-615)atC>atG	p.I205M		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	205					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)	p.I205M(1)									AGCACAGCATCAAGGAGTGGC	0.567																																						uc010fyq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(613-615)ATC>ATG		chemokine orphan receptor 1							142.0	126.0	132.0					2																	237489723		2203	4300	6503	SO:0001583	missense	57007				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:237489723C>G	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.615C>G	2.37:g.237489723C>G	ENSP00000272928:p.Ile205Met					CXCR7_uc002vwd.2_Missense_Mutation_p.I205M	p.I205M	NM_020311	NP_064707	P25106	CXCR7_HUMAN		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)	3	845	+		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)	205			Extracellular (Potential).		A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.615C>G	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745792	0.30955	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.37411	1.2;1.2	5.7	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.604283	0.17542	N	0.170503	T	0.17408	0.0418	N	0.03608	-0.345	0.27111	N	0.962371	B	0.06786	0.001	B	0.14023	0.01	T	0.13522	-1.0506	10	0.33940	T	0.23	.	9.8791	0.41222	0.0:0.7875:0.1405:0.072	.	205	P25106	CXCR7_HUMAN	M	205	ENSP00000405945:I205M;ENSP00000272928:I205M	ENSP00000272928:I205M	I	+	3	3	CXCR7	237154462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.829000	0.39121	1.358000	0.45922	0.655000	0.94253	ATC		PASS	0.567	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		4	70	4	70	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238263551	238263551	+	Silent	SNP	G	G	A	rs201814201	byFrequency	TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:238263551G>A	ENST00000295550.4	-	24	7070	c.6618C>T	c.(6616-6618)ccC>ccT	p.P2206P	COL6A3_ENST00000472056.1_Silent_p.P1599P|COL6A3_ENST00000346358.4_Silent_p.P2006P|COL6A3_ENST00000347401.3_Silent_p.P2005P|COL6A3_ENST00000409809.1_Silent_p.P2000P|COL6A3_ENST00000353578.4_Silent_p.P2000P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2206	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P2206P(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTTAGCTCCGGGGGGTCCCC	0.597													G|||	10	0.00199681	0.0	0.0	5008	,	,		16543	0.0		0.001	False		,,,				2504	0.0092					uc002vwl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(6616-6618)CCC>CCT		alpha 3 type VI collagen isoform 1 precursor							24.0	26.0	25.0					2																	238263551		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238263551G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6618C>T	2.37:g.238263551G>A						COL6A3_uc002vwo.2_Silent_p.P2000P|COL6A3_uc010znj.1_Silent_p.P1599P|COL6A3_uc002vwp.1_Silent_p.P27P	p.P2206P	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	24	6903	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2206			Triple-helical region.|Collagen-like 3.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.6618C>T	CCDS33412.1																																																																																				PASS	0.597	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		7	3	7	3	---	---	---	---
GPC1	2817	broad.mit.edu	37	2	241401910	241401910	+	Missense_Mutation	SNP	C	C	T	rs200794161		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr2:241401910C>T	ENST00000264039.2	+	3	876	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	210					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)	p.R210C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		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;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GAGAGAGCTGCGCCTGCGGGC	0.711																																						uc002vyw.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(628-630)CGC>TGC		glypican 1 precursor							10.0	12.0	11.0					2																	241401910		2168	4259	6427	SO:0001583	missense	2817				axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr2:241401910C>T	AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"""Proteoglycans / Cell Surface : Glypicans"""	4449	protein-coding gene	gene with protein product	"""glypican proteoglycan 1"""	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.628C>T	2.37:g.241401910C>T	ENSP00000264039:p.Arg210Cys						p.R210C	NM_002081	NP_002072	P35052	GPC1_HUMAN		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	3	849	+		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)	210					B3KTD1|Q53QM4	Missense_Mutation	SNP	ENST00000264039.2	37	c.628C>T	CCDS2534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.23|15.23	2.771497|2.771497	0.49680|0.49680	.|.	.|.	ENSG00000063660|ENSG00000063660	ENST00000420138|ENST00000264039	.|T	.|0.54866	.|0.55	3.11|3.11	2.11|2.11	0.27256|0.27256	.|.	.|0.273319	.|0.34484	.|N	.|0.003921	T|T	0.46308|0.46308	0.1386|0.1386	M|M	0.75777|0.75777	2.31|2.31	0.42105|0.42105	D|D	0.991356|0.991356	.|P	.|0.36837	.|0.571	.|B	.|0.32583	.|0.148	T|T	0.56306|0.56306	-0.8001|-0.8001	5|10	.|0.87932	.|D	.|0	-6.9419|-6.9419	7.228|7.228	0.26026|0.26026	0.4014:0.5986:0.0:0.0|0.4014:0.5986:0.0:0.0	.|.	.|210	.|P35052	.|GPC1_HUMAN	V|C	249|210	.|ENSP00000264039:R210C	.|ENSP00000264039:R210C	A|R	+|+	2|1	0|0	GPC1|GPC1	241050583|241050583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	3.014000|3.014000	0.49590|0.49590	1.757000|1.757000	0.51966|0.51966	0.591000|0.591000	0.81541|0.81541	GCG|CGC		PASS	0.711	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257179.3	NM_002081		12	6	12	6	---	---	---	---
TTLL3	26140	broad.mit.edu	37	3	9874874	9874874	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:9874874G>A	ENST00000547186.1	+	11	1857	c.1641G>A	c.(1639-1641)cgG>cgA	p.R547R	TTLL3_ENST00000426895.4_Silent_p.R690R|TTLL3_ENST00000383827.1_Intron|TTLL3_ENST00000397241.1_Intron|TTLL3_ENST00000455274.1_Intron|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000430793.1_Silent_p.R335R	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	547					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.R547R(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGTGTCATCGGCGGATGGGGG	0.622																																						uc003btg.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(1639-1641)CGG>CGA		tubulin tyrosine ligase-like family, member 3							45.0	46.0	46.0					3																	9874874		1919	4118	6037	SO:0001819	synonymous_variant	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9874874G>A		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1641G>A	3.37:g.9874874G>A						ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Intron|TTLL3_uc003btf.3_Intron|TTLL3_uc010hco.1_Intron|TTLL3_uc003bth.3_Silent_p.R335R|TTLL3_uc011atj.1_Silent_p.R483R|TTLL3_uc003btj.3_Intron|TTLL3_uc003bti.3_Silent_p.R335R	p.R547R	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN			11	1857	+	Medulloblastoma(99;0.227)		547					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37	c.1641G>A																																																																																					PASS	0.622	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		11	13	11	13	---	---	---	---
TMEM40	55287	broad.mit.edu	37	3	12791327	12791327	+	Missense_Mutation	SNP	T	T	A	rs534045803		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:12791327T>A	ENST00000314124.7	-	2	361	c.5A>T	c.(4-6)gAg>gTg	p.E2V	TMEM40_ENST00000264728.8_Missense_Mutation_p.E2V|TMEM40_ENST00000435218.2_Missense_Mutation_p.E2V|TMEM40_ENST00000431022.2_Missense_Mutation_p.E18V|TMEM40_ENST00000435575.1_Missense_Mutation_p.E2V	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	2						integral component of membrane (GO:0016021)		p.E2V(1)		breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TGCTGAAGTCTCCATGGCTTT	0.403																																						uc003bxg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(4-6)GAG>GTG		transmembrane protein 40							179.0	154.0	162.0					3																	12791327		2203	4300	6503	SO:0001583	missense	55287					integral to membrane		g.chr3:12791327T>A	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.5A>T	3.37:g.12791327T>A	ENSP00000322837:p.Glu2Val					TMEM40_uc003bxh.1_Missense_Mutation_p.E2V|TMEM40_uc003bxi.1_Missense_Mutation_p.E2V|TMEM40_uc011auv.1_Missense_Mutation_p.E18V	p.E2V	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN			2	132	-			2					C9JID5|Q8NAL4|Q9NUZ4	Missense_Mutation	SNP	ENST00000314124.7	37	c.5A>T	CCDS2613.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536693	0.65085	.	.	ENSG00000088726	ENST00000314124;ENST00000435575;ENST00000435218;ENST00000264728;ENST00000431022	.	.	.	3.97	3.97	0.46021	.	0.000000	0.43416	D	0.000562	T	0.69913	0.3164	M	0.61703	1.905	0.38505	D	0.948319	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.997;0.997;0.997;0.998	T	0.74494	-0.3647	9	0.87932	D	0	-15.2207	9.5443	0.39271	0.0:0.0:0.0:1.0	.	18;2;2;2	B4DXI0;C9JID5;Q8WWA1-2;Q8WWA1	.;.;.;TMM40_HUMAN	V	2;2;2;2;18	.	ENSP00000264728:E2V	E	-	2	0	TMEM40	12766327	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.507000	0.35758	2.021000	0.59480	0.533000	0.62120	GAG		PASS	0.403	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		11	19	11	19	---	---	---	---
CCR8	1237	broad.mit.edu	37	3	39374082	39374082	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:39374082C>A	ENST00000326306.4	+	2	398	c.260C>A	c.(259-261)tCc>tAc	p.S87Y	CCR8_ENST00000414803.1_Intron|CCR8_ENST00000545843.1_Intron	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	87					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)	p.S87Y(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TTTGTCTTCTCCTTCCCCTTT	0.498																																						uc010hhr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(259-261)TCC>TAC		chemokine (C-C motif) receptor 8							254.0	225.0	235.0					3																	39374082		2203	4300	6503	SO:0001583	missense	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374082C>A	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.260C>A	3.37:g.39374082C>A	ENSP00000326432:p.Ser87Tyr					CCR8_uc003cjm.2_Intron	p.S87Y	NM_005201	NP_005192	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	398	+			87			Helical; Name=2; (Potential).		B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.260C>A	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560347	0.65538	.	.	ENSG00000179934	ENST00000326306	T	0.72282	-0.64	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.143632	0.48767	D	0.000179	D	0.84786	0.5549	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.86918	0.2065	10	0.87932	D	0	.	11.065	0.47970	0.0:0.9103:0.0:0.0897	.	87	P51685	CCR8_HUMAN	Y	87	ENSP00000326432:S87Y	ENSP00000326432:S87Y	S	+	2	0	CCR8	39349086	0.032000	0.19561	1.000000	0.80357	0.995000	0.86356	2.940000	0.49003	2.506000	0.84524	0.563000	0.77884	TCC		PASS	0.498	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		75	70	75	70	---	---	---	---
MYL3	4634	broad.mit.edu	37	3	46899752	46899752	+	Missense_Mutation	SNP	C	C	A	rs374293766		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:46899752C>A	ENST00000395869.1	-	6	621	c.570G>T	c.(568-570)aaG>aaT	p.K190N	MYL3_ENST00000292327.4_Missense_Mutation_p.K190N			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	190	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)	p.K190N(1)		breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		ACATGATGTGCTTCACAAATG	0.602																																					Melanoma(166;130 1949 2249 18977 46142)	uc003cql.1																			1	Substitution - Missense(1)		lung(1)		0						c.(568-570)AAG>AAT		slow skeletal ventricular myosin alkali light							153.0	123.0	133.0					3																	46899752		2203	4300	6503	SO:0001583	missense	4634				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr3:46899752C>A		CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"""Myosins / Light chain"", ""EF-hand domain containing"""	7584	protein-coding gene	gene with protein product		160790	"""myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"""			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.570G>T	3.37:g.46899752C>A	ENSP00000379210:p.Lys190Asn						p.K190N	NM_000258	NP_000249	P08590	MYL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)	6	663	-			190			EF-hand 3.		B2R534|Q9NRS8	Missense_Mutation	SNP	ENST00000395869.1	37	c.570G>T	CCDS2746.1	.	.	.	.	.	.	.	.	.	.	c	15.73	2.918463	0.52546	.	.	ENSG00000160808	ENST00000395869;ENST00000292327	T;T	0.79749	-1.3;-1.3	4.0	2.51	0.30379	EF-hand-like domain (1);	0.166754	0.39407	N	0.001364	D	0.85031	0.5604	M	0.84082	2.675	0.58432	D	0.999995	D	0.59767	0.986	P	0.54965	0.765	D	0.85144	0.0982	10	0.87932	D	0	-15.4009	7.7014	0.28625	0.0:0.7921:0.0:0.2079	.	190	P08590	MYL3_HUMAN	N	190	ENSP00000379210:K190N;ENSP00000292327:K190N	ENSP00000292327:K190N	K	-	3	2	MYL3	46874756	0.978000	0.34361	1.000000	0.80357	0.833000	0.47200	0.089000	0.15002	1.045000	0.40225	0.556000	0.70494	AAG		PASS	0.602	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259165.2	NM_000258		15	7	15	7	---	---	---	---
CCDC51	79714	broad.mit.edu	37	3	48476522	48476522	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:48476522G>A	ENST00000395694.2	-	2	102	c.17C>T	c.(16-18)cCt>cTt	p.P6L	CCDC51_ENST00000442740.1_Intron|CCDC51_ENST00000447018.1_Intron|CCDC51_ENST00000395696.1_Missense_Mutation_p.P6L|CCDC51_ENST00000412398.2_Intron	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	6						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.P6L(1)		endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCAAACCCAGGGCTGCGCCC	0.597																																						uc003csz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)CCT>CTT		coiled-coil domain containing 51							21.0	22.0	22.0					3																	48476522		1984	4160	6144	SO:0001583	missense	79714					integral to membrane		g.chr3:48476522G>A	AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.17C>T	3.37:g.48476522G>A	ENSP00000379047:p.Pro6Leu					CCDC51_uc003cta.2_Intron|CCDC51_uc003ctb.2_Intron|CCDC51_uc003ctc.2_Missense_Mutation_p.P6L|CCDC51_uc003ctd.2_Intron	p.P6L	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	138	-			6					Q9HA01	Missense_Mutation	SNP	ENST00000395694.2	37	c.17C>T	CCDS2766.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069551	0.76301	.	.	ENSG00000164051	ENST00000395694;ENST00000395696;ENST00000446140;ENST00000438370	T;T	0.46063	0.88;0.88	4.88	4.0	0.46444	.	1.102090	0.07291	U	0.872518	T	0.36413	0.0966	L	0.36672	1.1	0.32647	N	0.519901	B	0.26809	0.16	B	0.21917	0.037	T	0.36456	-0.9747	10	0.44086	T	0.13	3.0781	11.4887	0.50369	0.0:0.182:0.818:0.0	.	6	Q96ER9	CCD51_HUMAN	L	6	ENSP00000379047:P6L;ENSP00000379049:P6L	ENSP00000379047:P6L	P	-	2	0	CCDC51	48451526	0.026000	0.19158	0.820000	0.32676	0.930000	0.56654	1.869000	0.39519	1.155000	0.42497	0.563000	0.77884	CCT		PASS	0.597	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661		5	9	5	9	---	---	---	---
GBE1	2632	broad.mit.edu	37	3	81640303	81640303	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:81640303G>A	ENST00000429644.2	-	9	1764	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L	GBE1_ENST00000489715.1_Missense_Mutation_p.S333L	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	374					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.S374L(2)|p.S374*(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GTAATCACCTGAGAAACCTTG	0.358									Glycogen Storage Disease, type IV																													uc003dqg.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)	p.S374*(1)	lung(2)|ovary(1)	ovary(3)	3						c.(1120-1122)TCA>TTA		glucan (1,4-alpha-), branching enzyme 1							101.0	88.0	92.0					3																	81640303		1858	4102	5960	SO:0001583	missense	2632	Glycogen_Storage_Disease_type_IV	Familial Cancer Database	Andersen Disease, Brancher deficiency	glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr3:81640303G>A		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1121C>T	3.37:g.81640303G>A	ENSP00000410833:p.Ser374Leu					GBE1_uc011bgm.1_Missense_Mutation_p.S333L	p.S374L	NM_000158	NP_000149	Q04446	GLGB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)	10	1404	-		Lung NSC(201;0.0117)	374					B3KWV3|Q96EN0	Missense_Mutation	SNP	ENST00000429644.2	37	c.1121C>T	CCDS54612.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.798063	0.70567	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.85088	-1.94;-1.94	5.41	4.53	0.55603	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.121727	0.64402	D	0.000020	D	0.90518	0.7029	M	0.78456	2.415	0.41520	D	0.988397	D;D	0.56746	0.977;0.977	P;P	0.62560	0.904;0.904	D	0.91396	0.5139	10	0.87932	D	0	-18.4201	11.3092	0.49353	0.0:0.1787:0.6949:0.1263	.	333;374	E9PGM4;Q04446	.;GLGB_HUMAN	L	374;425;333;137	ENSP00000410833:S374L;ENSP00000419638:S333L	ENSP00000264326:S425L	S	-	2	0	GBE1	81722993	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.017000	0.76399	1.390000	0.46547	0.650000	0.86243	TCA		PASS	0.358	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352760.2			3	6	3	6	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89259464	89259464	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:89259464C>T	ENST00000336596.2	+	3	833	c.608C>T	c.(607-609)cCa>cTa	p.P203L	EPHA3_ENST00000494014.1_Missense_Mutation_p.P203L|EPHA3_ENST00000452448.2_Missense_Mutation_p.P203L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	203	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.P203L(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAAAAGTGCCCATTTACAGTG	0.453										TSP Lung(6;0.00050)																												uc003dqy.2																			2	Substitution - Missense(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(607-609)CCA>CTA		ephrin receptor EphA3 isoform a precursor							144.0	132.0	136.0					3																	89259464		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259464C>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.608C>T	3.37:g.89259464C>T	ENSP00000337451:p.Pro203Leu	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Missense_Mutation_p.P203L|EPHA3_uc010hon.1_RNA	p.P203L	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	833	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	203			Extracellular (Potential).|Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.608C>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445256	0.83993	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.74526	-0.84;2.57;-0.85	5.92	5.92	0.95590	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.82756	0.5106	L	0.45137	1.4	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.991;0.984	T	0.79729	-0.1681	9	.	.	.	.	20.327	0.98704	0.0:1.0:0.0:0.0	.	203;203	P29320;P29320-2	EPHA3_HUMAN;.	L	203	ENSP00000337451:P203L;ENSP00000399926:P203L;ENSP00000419190:P203L	.	P	+	2	0	EPHA3	89342154	1.000000	0.71417	0.970000	0.41538	0.941000	0.58515	7.818000	0.86416	2.794000	0.96219	0.650000	0.86243	CCA		PASS	0.453	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		47	82	47	82	---	---	---	---
CCDC54	84692	broad.mit.edu	37	3	107097078	107097078	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:107097078C>A	ENST00000261058.1	+	1	891	c.644C>A	c.(643-645)cCc>cAc	p.P215H		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	215								p.P215H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ACAATTTCTCCCCAAATGAAA	0.393																																						uc003dwi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(643-645)CCC>CAC		coiled-coil domain containing 54							67.0	69.0	68.0					3																	107097078		2203	4300	6503	SO:0001583	missense	84692							g.chr3:107097078C>A	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.644C>A	3.37:g.107097078C>A	ENSP00000261058:p.Pro215His						p.P215H	NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN			1	891	+			215					Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	c.644C>A	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	C	8.545	0.874090	0.17395	.	.	ENSG00000138483	ENST00000261058	T	0.42513	0.97	4.87	3.96	0.45880	.	0.341140	0.21366	N	0.075709	T	0.30823	0.0777	L	0.48362	1.52	0.09310	N	1	B	0.26809	0.16	B	0.22601	0.04	T	0.14952	-1.0454	10	0.09590	T	0.72	-0.5091	10.5478	0.45070	0.1919:0.8081:0.0:0.0	.	215	Q8NEL0	CCD54_HUMAN	H	215	ENSP00000261058:P215H	ENSP00000261058:P215H	P	+	2	0	CCDC54	108579768	0.000000	0.05858	0.004000	0.12327	0.184000	0.23303	0.694000	0.25512	2.241000	0.73720	0.460000	0.39030	CCC		PASS	0.393	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		22	42	22	42	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111298029	111298029	+	Silent	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:111298029T>A	ENST00000283285.5	+	5	878	c.747T>A	c.(745-747)atT>atA	p.I249I	CD96_ENST00000352690.4_Silent_p.I233I|CD96_ENST00000438817.2_Silent_p.I233I	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	249					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.I249I(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CTTGCCACATTAGAGTCGGTC	0.473									Opitz Trigonocephaly syndrome																													uc003dxw.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(745-747)ATT>ATA		CD96 antigen isoform 1 precursor							111.0	109.0	110.0					3																	111298029		2203	4300	6503	SO:0001819	synonymous_variant	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111298029T>A	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.747T>A	3.37:g.111298029T>A						CD96_uc003dxv.2_Silent_p.I233I|CD96_uc003dxx.2_Silent_p.I233I|CD96_uc010hpy.1_Silent_p.I233I	p.I249I	NM_198196	NP_937839	P40200	TACT_HUMAN			5	917	+			249			Extracellular (Potential).		Q5JPB3	Silent	SNP	ENST00000283285.5	37	c.747T>A	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	T	0.438	-0.899867	0.02472	.	.	ENSG00000153283	ENST00000465428	.	.	.	5.18	-6.05	0.02172	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	2.0619	0.03594	0.1234:0.3411:0.2672:0.2683	.	.	.	.	K	75	.	.	X	+	1	0	CD96	112780719	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.158000	0.10070	-1.015000	0.03375	-1.815000	0.00603	TAG		PASS	0.473	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			35	57	35	57	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118621385	118621385	+	Silent	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:118621385C>A	ENST00000393775.2	-	7	1583	c.1278G>T	c.(1276-1278)cgG>cgT	p.R426R	IGSF11_ENST00000491903.1_Silent_p.R398R|IGSF11_ENST00000489689.1_Silent_p.R402R|IGSF11_ENST00000425327.2_Silent_p.R425R|IGSF11_ENST00000441144.2_Silent_p.R401R|IGSF11_ENST00000354673.2_Silent_p.R425R	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	426					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R425R(1)|p.R426R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGACCCGGCCCGACTCTGGG	0.542																																						uc003ebw.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1276-1278)CGG>CGT		immunoglobulin superfamily, member 11 isoform b							117.0	115.0	116.0					3																	118621385		2203	4300	6503	SO:0001819	synonymous_variant	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621385C>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1278G>T	3.37:g.118621385C>A						IGSF11_uc011biv.1_Silent_p.R398R|IGSF11_uc003ebx.2_Silent_p.R402R|IGSF11_uc003eby.2_Silent_p.R425R|IGSF11_uc003ebz.2_Silent_p.R401R|IGSF11_uc010hqs.2_Silent_p.R425R	p.R426R	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			7	1525	-			426			Cytoplasmic (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Silent	SNP	ENST00000393775.2	37	c.1278G>T	CCDS46891.1																																																																																				PASS	0.542	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			31	73	31	73	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121414947	121414947	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:121414947C>A	ENST00000340645.5	-	13	4533	c.4408G>T	c.(4408-4410)Gag>Tag	p.E1470*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.E1475*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1470					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E1470*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTCCAATCTCTTCTGGTTTT	0.403																																						uc003eei.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(4408-4410)GAG>TAG		golgi autoantigen, golgin subfamily b,							177.0	177.0	177.0					3																	121414947		2203	4300	6503	SO:0001587	stop_gained	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414947C>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4408G>T	3.37:g.121414947C>A	ENSP00000341848:p.Glu1470*					GOLGB1_uc010hrc.2_Nonsense_Mutation_p.E1475*|GOLGB1_uc003eej.3_Nonsense_Mutation_p.E1436*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.E1356*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.E1434*	p.E1470*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	4534	-			1470			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	c.4408G>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	38	6.861823	0.97893	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	.	.	.	5.49	4.63	0.57726	.	0.184196	0.38436	N	0.001692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	12.0693	0.53607	0.0:0.9178:0.0:0.0822	.	.	.	.	X	1470;1475;1434	.	ENSP00000341848:E1470X	E	-	1	0	GOLGB1	122897637	0.994000	0.37717	0.030000	0.17652	0.121000	0.20230	3.666000	0.54540	1.570000	0.49709	-0.136000	0.14681	GAG		PASS	0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		89	165	89	165	---	---	---	---
CCDC37	348807	broad.mit.edu	37	3	126138990	126138990	+	Silent	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:126138990C>A	ENST00000352312.1	+	11	1099	c.1000C>A	c.(1000-1002)Cgg>Agg	p.R334R	CCDC37_ENST00000393425.1_Silent_p.R335R|CCDC37_ENST00000505024.1_Silent_p.R335R	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	334								p.R334R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GCAGACGATGCGGCTGGGGCG	0.647																																						uc003eiu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1000-1002)CGG>AGG		coiled-coil domain containing 37							26.0	28.0	27.0					3																	126138990		2202	4299	6501	SO:0001819	synonymous_variant	348807							g.chr3:126138990C>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1000C>A	3.37:g.126138990C>A						CCDC37_uc010hsg.1_Silent_p.R335R	p.R334R	NM_182628	NP_872434	Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	11	1099	+			334					D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	c.1000C>A	CCDS3037.1																																																																																				PASS	0.647	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		9	17	9	17	---	---	---	---
PIK3R4	30849	broad.mit.edu	37	3	130464034	130464034	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:130464034G>C	ENST00000356763.3	-	2	586	c.29C>G	c.(28-30)cCc>cGc	p.P10R		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	10					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P10R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GATCTGGGAGGGAGCAATGCC	0.383																																						uc003enj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(28-30)CCC>CGC		phosphoinositide-3-kinase, regulatory subunit 4							40.0	39.0	39.0					3																	130464034		1963	4186	6149	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130464034G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.29C>G	3.37:g.130464034G>C	ENSP00000349205:p.Pro10Arg						p.P10R	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			2	610	-			10					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.29C>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162455	0.78226	.	.	ENSG00000196455	ENST00000356763	T	0.09630	2.96	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23476	-1.0187	10	0.72032	D	0.01	-24.0151	19.1199	0.93358	0.0:0.0:1.0:0.0	.	10	Q99570	PI3R4_HUMAN	R	10	ENSP00000349205:P10R	ENSP00000349205:P10R	P	-	2	0	PIK3R4	131946724	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.777000	0.99008	2.598000	0.87819	0.561000	0.74099	CCC		PASS	0.383	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		21	26	21	26	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132182590	132182590	+	Silent	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:132182590A>G	ENST00000260818.6	+	17	2069	c.1821A>G	c.(1819-1821)gaA>gaG	p.E607E	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	607					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.E607E(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CCCTAAGTGAAGGTGCCTTAC	0.408																																						uc003eor.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1819-1821)GAA>GAG		DnaJ (Hsp40) homolog, subfamily C, member 13							125.0	115.0	119.0					3																	132182590		2203	4300	6503	SO:0001819	synonymous_variant	23317						heat shock protein binding	g.chr3:132182590A>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1821A>G	3.37:g.132182590A>G						DNAJC13_uc010htq.1_Silent_p.E607E	p.E607E	NM_015268	NP_056083	O75165	DJC13_HUMAN			17	1886	+			607					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	ENST00000260818.6	37	c.1821A>G	CCDS33857.1																																																																																				PASS	0.408	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		16	48	16	48	---	---	---	---
ZIC4	84107	broad.mit.edu	37	3	147109008	147109008	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:147109008G>A	ENST00000383075.3	-	4	1226	c.714C>T	c.(712-714)ttC>ttT	p.F238F	ZIC4_ENST00000425731.3_Silent_p.F276F|ZIC4_ENST00000525172.2_Silent_p.F288F|ZIC4_ENST00000491672.1_Silent_p.F32F|ZIC4_ENST00000473123.1_Silent_p.F238F|ZIC4_ENST00000484399.1_Silent_p.F238F|ZIC4_ENST00000472749.2_5'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	238						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F238F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGCAGCCCTCGAACTCGCATC	0.622																																						uc003ewd.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(712-714)TTC>TTT		zinc finger protein of the cerebellum 4							27.0	29.0	28.0					3																	147109008		2202	4299	6501	SO:0001819	synonymous_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147109008G>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.714C>T	3.37:g.147109008G>A						ZIC4_uc003ewc.1_Silent_p.F168F|ZIC4_uc011bno.1_Silent_p.F288F	p.F238F	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			4	987	-			238			C2H2-type 4.		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	37	c.714C>T	CCDS43160.1																																																																																				PASS	0.622	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			8	12	8	12	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157034940	157034940	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:157034940C>A	ENST00000362010.2	-	10	2093	c.1786G>T	c.(1786-1788)Ggt>Tgt	p.G596C	RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.G596C|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.G596C|RP11-550I24.2_ENST00000494885.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.G596C	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	596						plasma membrane (GO:0005886)		p.G596C(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)			CAGTAATGACCCTTCAGGGAG	0.398																																						uc003fbj.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|lung(1)	5						c.(1786-1788)GGT>TGT		ventricular zone expressed PH domain homolog 1							142.0	132.0	136.0					3																	157034940		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157034940C>A	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.1786G>T	3.37:g.157034940C>A	ENSP00000354919:p.Gly596Cys					VEPH1_uc003fbk.1_Missense_Mutation_p.G596C|VEPH1_uc010hvu.1_Missense_Mutation_p.G596C	p.G596C	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		10	2103	-			596					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1786G>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132670	0.77662	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.12569	2.67;2.73;2.67;2.73	5.46	5.46	0.80206	.	0.052661	0.85682	D	0.000000	T	0.38321	0.1036	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.87578	0.998;0.906	T	0.09818	-1.0657	10	0.87932	D	0	-20.4817	18.0673	0.89395	0.0:1.0:0.0:0.0	.	596;596	Q14D04-2;Q14D04	.;MELT_HUMAN	C	596	ENSP00000376578:G596C;ENSP00000354919:G596C;ENSP00000446258:G596C;ENSP00000376577:G596C	ENSP00000354919:G596C	G	-	1	0	VEPH1	158517634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.253000	0.65452	2.564000	0.86499	0.655000	0.94253	GGT		PASS	0.398	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		18	38	18	38	---	---	---	---
IFT80	57560	broad.mit.edu	37	3	160102367	160102367	+	Silent	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:160102367A>G	ENST00000326448.7	-	2	454	c.22T>C	c.(22-24)Tta>Cta	p.L8L	IFT80_ENST00000477495.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000496589.1_5'UTR|IFT80_ENST00000483465.1_5'Flank	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	8					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.L8L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGTTCTTTTAAAAGAGATATC	0.259																																						uc011boy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(22-24)TTA>CTA		WD repeat domain 56							26.0	28.0	28.0					3																	160102367		2191	4272	6463	SO:0001819	synonymous_variant	57560					cilium axoneme|microtubule basal body		g.chr3:160102367A>G	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.22T>C	3.37:g.160102367A>G						IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_5'UTR|IFT80_uc003fdd.1_5'UTR|IFT80_uc003fde.1_5'UTR	p.L8L	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	455	-			8					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	ENST00000326448.7	37	c.22T>C	CCDS3188.1																																																																																				PASS	0.259	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		7	21	7	21	---	---	---	---
KPNA4	3840	broad.mit.edu	37	3	160226054	160226054	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:160226054C>A	ENST00000334256.4	-	15	1518	c.1213G>T	c.(1213-1215)Gct>Tct	p.A405S		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	405					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.A405S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATAAGGTAAGCCACCTGAAGA	0.333																																						uc003fdn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1213-1215)GCT>TCT		karyopherin alpha 4							53.0	49.0	50.0					3																	160226054		2203	4300	6503	SO:0001583	missense	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160226054C>A	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.1213G>T	3.37:g.160226054C>A	ENSP00000334373:p.Ala405Ser						p.A405S	NM_002268	NP_002259	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		15	1519	-			405			ARM 9.		A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	ENST00000334256.4	37	c.1213G>T	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048620	0.36181	.	.	ENSG00000186432	ENST00000334256;ENST00000483437	T;T	0.69561	-0.41;-0.41	5.13	5.13	0.70059	Armadillo-like helical (1);Armadillo-type fold (1);	0.051271	0.85682	D	0.000000	T	0.57961	0.2089	L	0.31526	0.94	0.80722	D	1	B	0.14805	0.011	B	0.21360	0.034	T	0.52185	-0.8609	10	0.30854	T	0.27	-2.0697	18.5812	0.91171	0.0:1.0:0.0:0.0	.	405	O00629	IMA4_HUMAN	S	405;86	ENSP00000334373:A405S;ENSP00000417172:A86S	ENSP00000334373:A405S	A	-	1	0	KPNA4	161708748	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.679000	0.84048	2.388000	0.81334	0.561000	0.74099	GCT		PASS	0.333	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		6	13	6	13	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906718	164906718	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:164906718C>G	ENST00000475390.1	-	2	2344	c.1901G>C	c.(1900-1902)gGg>gCg	p.G634A	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G634A			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	634					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.G634A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTTGGTGCCCCAATAAGGTG	0.527										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1900-1902)GGG>GCG		slit and trk like 3 protein precursor							35.0	38.0	37.0					3																	164906718		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906718C>G	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1901G>C	3.37:g.164906718C>G	ENSP00000420091:p.Gly634Ala	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.G634A	p.G634A	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2345	-			634			Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1901G>C	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	8.017	0.758763	0.15846	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.52295	0.67;0.67	5.02	5.02	0.67125	.	0.000000	0.38326	N	0.001729	T	0.32971	0.0847	L	0.34521	1.04	0.28289	N	0.923653	B	0.02656	0.0	B	0.06405	0.002	T	0.12218	-1.0556	10	0.11485	T	0.65	-8.1982	11.1585	0.48501	0.1836:0.8164:0.0:0.0	.	634	O94933	SLIK3_HUMAN	A	634	ENSP00000420091:G634A;ENSP00000241274:G634A	ENSP00000241274:G634A	G	-	2	0	SLITRK3	166389412	0.011000	0.17503	0.748000	0.31131	0.033000	0.12548	1.537000	0.36083	2.761000	0.94854	0.655000	0.94253	GGG		PASS	0.527	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		7	13	7	13	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164908356	164908356	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:164908356G>C	ENST00000475390.1	-	2	706	c.263C>G	c.(262-264)tCt>tGt	p.S88C	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S88C			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	88					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.S88C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTTCCTCATAGAATTCCTCTG	0.353										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(262-264)TCT>TGT		slit and trk like 3 protein precursor							61.0	64.0	63.0					3																	164908356		2202	4299	6501	SO:0001583	missense	22865					integral to membrane		g.chr3:164908356G>C	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.263C>G	3.37:g.164908356G>C	ENSP00000420091:p.Ser88Cys	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.S88C	p.S88C	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	707	-			88			LRR 1.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.263C>G	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396106	0.62177	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;D	0.84442	0.55;0.55;-1.85	6.11	6.11	0.99139	.	0.000000	0.32935	N	0.005477	D	0.91250	0.7242	M	0.82056	2.57	0.58432	D	0.999994	D	0.63046	0.992	P	0.54401	0.751	D	0.90750	0.4656	10	0.54805	T	0.06	-13.7242	20.7342	0.99715	0.0:0.0:1.0:0.0	.	88	O94933	SLIK3_HUMAN	C	88	ENSP00000420091:S88C;ENSP00000241274:S88C;ENSP00000419611:S88C	ENSP00000241274:S88C	S	-	2	0	SLITRK3	166391050	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	8.006000	0.88564	2.906000	0.99361	0.655000	0.94253	TCT		PASS	0.353	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		33	64	33	64	---	---	---	---
SERPINI2	5276	broad.mit.edu	37	3	167189477	167189477	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:167189477G>T	ENST00000476257.1	-	3	444	c.146C>A	c.(145-147)cCc>cAc	p.P49H	SERPINI2_ENST00000471111.1_Missense_Mutation_p.P49H|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000461846.1_Missense_Mutation_p.P49H|SERPINI2_ENST00000264677.4_Missense_Mutation_p.P49H			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	49					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|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.P49H(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TATTCCAAGGGGTGAAAATAT	0.393																																						uc003fer.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|urinary_tract(1)	3						c.(145-147)CCC>CAC		serpin peptidase inhibitor, clade I (pancpin),							178.0	174.0	176.0					3																	167189477		2203	4300	6503	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167189477G>T	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.146C>A	3.37:g.167189477G>T	ENSP00000420621:p.Pro49His					SERPINI2_uc003fes.1_Missense_Mutation_p.P59H|SERPINI2_uc003fet.1_Missense_Mutation_p.P49H	p.P49H	NM_006217	NP_006208	O75830	SPI2_HUMAN			1	204	-			49						Missense_Mutation	SNP	ENST00000476257.1	37	c.146C>A	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965417	0.74131	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903;ENST00000467583	D;D;D;D;D;D	0.97256	-3.48;-3.48;-3.48;-3.48;-3.48;-4.31	5.7	5.7	0.88788	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	H	0.97829	4.085	0.47009	D	0.999281	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.986	D	0.99120	1.0849	10	0.87932	D	0	.	17.3921	0.87435	0.0:0.0:1.0:0.0	.	49;49	B4DDY9;O75830	.;SPI2_HUMAN	H	49	ENSP00000420621:P49H;ENSP00000417692:P49H;ENSP00000264677:P49H;ENSP00000419407:P49H;ENSP00000417752:P49H;ENSP00000419255:P49H	ENSP00000264677:P49H	P	-	2	0	SERPINI2	168672171	1.000000	0.71417	0.892000	0.35008	0.737000	0.42083	6.805000	0.75191	2.709000	0.92574	0.650000	0.86243	CCC		PASS	0.393	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		4	124	4	124	---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172835144	172835144	+	Silent	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr3:172835144C>T	ENST00000351008.3	-	2	561	c.378G>A	c.(376-378)aaG>aaA	p.K126K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	126					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.K126K(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGTAGACCAACTTCATTTCCA	0.423																																						uc003fin.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(376-378)AAG>AAA		spermatogenesis associated 16							328.0	301.0	310.0					3																	172835144		2203	4300	6503	SO:0001819	synonymous_variant	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835144C>T	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.378G>A	3.37:g.172835144C>T							p.K126K	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	536	-	Ovarian(172;0.00319)|Breast(254;0.197)		126					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	ENST00000351008.3	37	c.378G>A	CCDS3221.1																																																																																				PASS	0.423	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		45	71	45	71	---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3318114	3318114	+	Nonsense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:3318114A>T	ENST00000344733.5	+	2	1121	c.217A>T	c.(217-219)Aaa>Taa	p.K73*	RGS12_ENST00000382788.3_Nonsense_Mutation_p.K73*|RGS12_ENST00000543385.1_Nonsense_Mutation_p.K73*|RGS12_ENST00000336727.3_Nonsense_Mutation_p.K73*	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	73	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.K73*(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AATCAACGTGAAAAAAGCATC	0.517																																						uc003ggw.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(217-219)AAA>TAA		regulator of G-protein signalling 12 isoform 1							61.0	60.0	60.0					4																	3318114		2203	4300	6503	SO:0001587	stop_gained	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318114A>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.217A>T	4.37:g.3318114A>T	ENSP00000339381:p.Lys73*					RGS12_uc003ggu.2_Nonsense_Mutation_p.K73*|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Nonsense_Mutation_p.K73*|RGS12_uc003ggx.1_Nonsense_Mutation_p.K73*	p.K73*	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1121	+			73			PDZ.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Nonsense_Mutation	SNP	ENST00000344733.5	37	c.217A>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094102	0.76870	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	.	.	.	4.72	3.45	0.39498	.	0.343018	0.30519	N	0.009459	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-18.9978	10.309	0.43697	0.8347:0.1653:0.0:0.0	.	.	.	.	X	73	.	ENSP00000338509:K73X	K	+	1	0	RGS12	3287912	1.000000	0.71417	0.371000	0.25978	0.004000	0.04260	5.144000	0.64832	1.766000	0.52107	0.402000	0.26972	AAA		PASS	0.517	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		9	26	9	26	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20598066	20598066	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:20598066A>C	ENST00000504154.1	+	32	3601	c.3349A>C	c.(3349-3351)Atg>Ctg	p.M1117L	SLIT2_ENST00000503837.1_Missense_Mutation_p.M1113L|SLIT2_ENST00000503823.1_Missense_Mutation_p.M1109L|SLIT2_ENST00000273739.5_Missense_Mutation_p.M1130L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1117					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.M1117L(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTCTCCACCCATGGTCCTCCC	0.398																																						uc003gpr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(3349-3351)ATG>CTG		slit homolog 2 precursor							86.0	90.0	89.0					4																	20598066		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20598066A>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3349A>C	4.37:g.20598066A>C	ENSP00000422591:p.Met1117Leu					SLIT2_uc003gps.1_Missense_Mutation_p.M1109L	p.M1117L	NM_004787	NP_004778	O94813	SLIT2_HUMAN			32	3553	+			1117					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3349A>C	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.691536	0.88735	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.79653	-1.28;-1.29;1.4;-1.26	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.63390	0.2507	N	0.03948	-0.315	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.12156	0.007;0.001	T	0.59606	-0.7423	10	0.27082	T	0.32	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1109;1117	O94813-3;O94813	.;SLIT2_HUMAN	L	1109;1117;1130;1113;1113	ENSP00000427548:M1109L;ENSP00000422591:M1117L;ENSP00000273739:M1130L;ENSP00000422261:M1113L	ENSP00000273739:M1130L	M	+	1	0	SLIT2	20207164	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.638000	0.91019	2.333000	0.79357	0.482000	0.46254	ATG		PASS	0.398	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			4	45	4	45	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22748973	22748973	+	RNA	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:22748973C>A	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.P114H(2)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGGTTACTCCCATTGTGACC	0.378																																						uc003gqp.3																			2	Substitution - Missense(2)		lung(2)		0						c.(340-342)CCC>CAC		cytosolic beta-glucosidase isoform a							136.0	134.0	134.0					4																	22748973		1827	4081	5908			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22748973C>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22748973C>A						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.P115H	p.P114H	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	432	+			114					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.341C>A																																																																																					PASS	0.378	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			23	74	23	74	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22749246	22749246	+	RNA	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:22749246G>A	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.W205*(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCCAGATCCTGGCACAGCTAT	0.448																																						uc003gqp.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(613-615)TGG>TAG		cytosolic beta-glucosidase isoform a							151.0	148.0	149.0					4																	22749246		1878	4099	5977			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749246G>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749246G>A						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Nonsense_Mutation_p.W206*	p.W205*	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	705	+			205					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Nonsense_Mutation	SNP	ENST00000503442.1	37	c.614G>A																																																																																					PASS	0.448	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			28	59	28	59	---	---	---	---
GBA3	57733	broad.mit.edu	37	4	22749605	22749605	+	RNA	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:22749605G>C	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.G325R(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGAGAACTAGGTATTCTCCA	0.383																																						uc003gqp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(973-975)GGT>CGT		cytosolic beta-glucosidase isoform a							50.0	47.0	48.0					4																	22749605		1827	4100	5927			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749605G>C	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749605G>C						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.G326R	p.G325R	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	1064	+			325					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.973G>C																																																																																					PASS	0.383	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			3	9	3	9	---	---	---	---
RBM47	54502	broad.mit.edu	37	4	40439916	40439916	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:40439916C>A	ENST00000381793.2	-	3	1391	c.995G>T	c.(994-996)aGg>aTg	p.R332M	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.R332M|RBM47_ENST00000295971.7_Missense_Mutation_p.R332M|RBM47_ENST00000319592.4_Missense_Mutation_p.R332M|RBM47_ENST00000514014.1_Missense_Mutation_p.R294M			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	332					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R332M(3)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GCCGCCGCCCCTGGCTGCCTT	0.652																																						uc003gvc.2																			3	Substitution - Missense(3)		lung(3)	breast(3)	3						c.(994-996)AGG>ATG		RNA binding motif protein 47 isoform a							38.0	37.0	37.0					4																	40439916		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40439916C>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.995G>T	4.37:g.40439916C>A	ENSP00000371212:p.Arg332Met					RBM47_uc003gvd.2_Missense_Mutation_p.R332M|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.R294M|RBM47_uc003gvg.1_Missense_Mutation_p.R332M	p.R332M	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			4	1705	-			332					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.995G>T	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787359	0.49997	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.58	4.42	0.53409	Nucleotide-binding, alpha-beta plait (1);	0.140212	0.64402	D	0.000004	T	0.59004	0.2162	N	0.08118	0	0.33883	D	0.636429	P;B	0.42649	0.786;0.26	B;B	0.44044	0.439;0.289	T	0.71484	-0.4579	10	0.72032	D	0.01	-23.5936	10.7643	0.46283	0.0:0.0758:0.0:0.9242	.	332;332	A0AV96-2;A0AV96	.;RBM47_HUMAN	M	332;332;332;332;294	ENSP00000320108:R332M;ENSP00000371212:R332M;ENSP00000371214:R332M;ENSP00000295971:R332M;ENSP00000423243:R294M	ENSP00000295971:R332M	R	-	2	0	RBM47	40134673	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	5.918000	0.69996	0.963000	0.38082	-0.379000	0.06801	AGG		PASS	0.652	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		10	24	10	24	---	---	---	---
DCAF4L1	285429	broad.mit.edu	37	4	41984529	41984529	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:41984529T>A	ENST00000333141.5	+	1	817	c.720T>A	c.(718-720)ttT>ttA	p.F240L		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	240								p.F240L(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CTTTGCTGTTTAATGGCTGTC	0.552																																						uc003gwk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(718-720)TTT>TTA		WD repeat domain 21B							134.0	133.0	133.0					4																	41984529		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984529T>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.720T>A	4.37:g.41984529T>A	ENSP00000327796:p.Phe240Leu						p.F240L	NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN			1	817	+			240					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.720T>A	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073645	0.36566	.	.	ENSG00000182308	ENST00000333141	T	0.69040	-0.37	0.97	-1.94	0.07571	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.196830	0.56097	D	0.000027	T	0.51702	0.1690	L	0.61036	1.89	0.31983	N	0.605632	B	0.28850	0.225	B	0.19946	0.027	T	0.42430	-0.9452	10	0.25751	T	0.34	.	5.9022	0.18972	0.0:0.6336:0.0:0.3664	.	240	Q3SXM0	DC4L1_HUMAN	L	240	ENSP00000327796:F240L	ENSP00000327796:F240L	F	+	3	2	DCAF4L1	41679286	1.000000	0.71417	0.163000	0.22734	0.311000	0.27955	0.525000	0.22956	-0.677000	0.05231	-0.736000	0.03550	TTT		PASS	0.552	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		32	78	32	78	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46305618	46305618	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:46305618C>A	ENST00000510861.1	-	8	888	c.715G>T	c.(715-717)Gta>Tta	p.V239L	GABRA2_ENST00000356504.1_Missense_Mutation_p.V239L|GABRA2_ENST00000507069.1_Missense_Mutation_p.V239L|GABRA2_ENST00000515082.1_Missense_Mutation_p.V239L|GABRA2_ENST00000381620.4_Missense_Mutation_p.V239L|GABRA2_ENST00000540012.1_Missense_Mutation_p.V184L|GABRA2_ENST00000514090.1_Missense_Mutation_p.V239L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	239					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V239L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCTGTCATTACAGTATATTCA	0.348																																						uc003gxc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(715-717)GTA>TTA		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						76.0	78.0	77.0					4																	46305618		2203	4300	6503	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46305618C>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.715G>T	4.37:g.46305618C>A	ENSP00000421828:p.Val239Leu					GABRA2_uc010igc.2_Missense_Mutation_p.V239L|GABRA2_uc011bzc.1_Missense_Mutation_p.V184L|GABRA2_uc003gxe.2_Missense_Mutation_p.V239L	p.V239L	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			7	1388	-			239			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.715G>T	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991533	0.93106	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.41	5.41	0.78517	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.86674	0.5989	M	0.81802	2.56	0.80722	D	1	D;P;P	0.56521	0.976;0.918;0.882	P;P;P	0.57283	0.817;0.596;0.658	D	0.86502	0.1804	10	0.44086	T	0.13	.	18.5536	0.91075	0.0:1.0:0.0:0.0	.	184;239;239	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	L	239;239;239;239;184;239;239	ENSP00000421828:V239L;ENSP00000421300:V239L;ENSP00000371033:V239L;ENSP00000348897:V239L;ENSP00000444409:V184L;ENSP00000427603:V239L;ENSP00000423840:V239L	ENSP00000348897:V239L	V	-	1	0	GABRA2	46000375	1.000000	0.71417	0.995000	0.50966	0.935000	0.57460	6.046000	0.71029	2.689000	0.91719	0.655000	0.94253	GTA		PASS	0.348	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			9	23	9	23	---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55152076	55152076	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:55152076C>G	ENST00000257290.5	+	18	2839	c.2508C>G	c.(2506-2508)gaC>gaG	p.D836E	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D596E	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	836	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D836E(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AGATCTGTGACTTTGGCCTGG	0.502			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3				Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - Missense(1)		lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2506-2508)GAC>GAG		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						206.0	187.0	194.0					4																	55152076		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55152076C>G	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2508C>G	4.37:g.55152076C>G	ENSP00000257290:p.Asp836Glu	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Missense_Mutation_p.D596E	p.D836E	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		18	2839	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		836			Protein kinase.|Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.2508C>G	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595577	0.86953	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.98075	-4.7;-4.7	6.04	3.39	0.38822	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33691	U	0.004643	D	0.98732	0.9574	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98847	1.0757	10	0.87932	D	0	.	12.0253	0.53367	0.0:0.819:0.0:0.181	.	836	P16234	PGFRA_HUMAN	E	596;836	ENSP00000423325:D596E;ENSP00000257290:D836E	ENSP00000423325:D596E	D	+	3	2	FIP1L1;PDGFRA	54846833	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.285000	0.51716	0.436000	0.26393	-0.258000	0.10820	GAC		PASS	0.502	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		25	93	25	93	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55970937	55970937	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:55970937G>T	ENST00000263923.4	-	13	2155	c.1860C>A	c.(1858-1860)agC>agA	p.S620R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	620	Ig-like C2-type 6.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.S620R(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCATTTGTGCTATTAGAGA	0.453			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(1858-1860)AGC>AGA		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						135.0	121.0	126.0					4																	55970937		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55970937G>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1860C>A	4.37:g.55970937G>T	ENSP00000263923:p.Ser620Arg	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.S620R|KDR_uc011bzx.1_Missense_Mutation_p.S620R	p.S620R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		13	2162	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		620			Ig-like C2-type 6.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.1860C>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435396	0.25813	.	.	ENSG00000128052	ENST00000263923	T	0.13778	2.56	6.08	4.38	0.52667	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.441295	0.28730	N	0.014328	T	0.14874	0.0359	L	0.46157	1.445	0.31174	N	0.702819	P;P	0.40875	0.731;0.537	B;P	0.44772	0.347;0.46	T	0.06917	-1.0800	10	0.27082	T	0.32	.	7.6829	0.28524	0.1345:0.0:0.7325:0.133	.	620;620	P35968-2;P35968	.;VGFR2_HUMAN	R	620	ENSP00000263923:S620R	ENSP00000263923:S620R	S	-	3	2	KDR	55665694	1.000000	0.71417	0.303000	0.25071	0.203000	0.24098	4.649000	0.61433	0.915000	0.36847	0.655000	0.94253	AGC		PASS	0.453	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			7	34	7	34	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55987285	55987285	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:55987285G>T	ENST00000263923.4	-	2	435	c.140C>A	c.(139-141)aCa>aAa	p.T47K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	47	Ig-like C2-type 1.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.T47K(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGAAGAGTTGTATTAGCCTT	0.328			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Missense(1)		lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(139-141)ACA>AAA		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						135.0	140.0	139.0					4																	55987285		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55987285G>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.140C>A	4.37:g.55987285G>T	ENSP00000263923:p.Thr47Lys	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.T47K|KDR_uc011bzx.1_Missense_Mutation_p.T47K	p.T47K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		2	442	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		47			Ig-like C2-type 1.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.140C>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671283	0.47781	.	.	ENSG00000128052	ENST00000263923	T	0.27256	1.68	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.255939	0.38058	N	0.001829	T	0.23054	0.0557	L	0.43152	1.355	0.32342	N	0.559592	B;B	0.29301	0.241;0.126	B;B	0.25140	0.058;0.021	T	0.21965	-1.0230	10	0.51188	T	0.08	.	12.8604	0.57910	0.0:0.0:0.7964:0.2036	.	47;47	P35968-2;P35968	.;VGFR2_HUMAN	K	47	ENSP00000263923:T47K	ENSP00000263923:T47K	T	-	2	0	KDR	55682042	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.633000	0.54295	2.759000	0.94783	0.650000	0.86243	ACA		PASS	0.328	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			14	31	14	31	---	---	---	---
UGT2B4	7363	broad.mit.edu	37	4	70361033	70361033	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:70361033G>T	ENST00000305107.6	-	1	593	c.547C>A	c.(547-549)Cat>Aat	p.H183N	UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.H47N|UGT2B4_ENST00000512583.1_Missense_Mutation_p.H183N	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	183					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.H183N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CCTCCACTATGCTTTTCAATT	0.443																																						uc003hek.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(547-549)CAT>AAT		UDP glucuronosyltransferase 2B4 precursor							67.0	68.0	68.0					4																	70361033		2190	4295	6485	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361033G>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.547C>A	4.37:g.70361033G>T	ENSP00000305221:p.His183Asn					UGT2B4_uc011cap.1_Missense_Mutation_p.H47N|UGT2B4_uc003hel.3_Missense_Mutation_p.H183N	p.H183N	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	594	-			183					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.547C>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	4.076	0.011891	0.07912	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	T;T;T	0.59083	0.29;0.29;0.29	2.4	-4.81	0.03180	.	0.658237	0.12824	U	0.436180	T	0.37785	0.1016	L	0.38953	1.18	0.09310	N	1	B;B;B	0.15719	0.002;0.002;0.014	B;B;B	0.21151	0.008;0.005;0.033	T	0.15492	-1.0435	10	0.27785	T	0.31	.	5.0252	0.14381	0.3262:0.0:0.5011:0.1726	.	47;183;183	A6NCP7;G5E9X8;P06133	.;.;UD2B4_HUMAN	N	183;183;47	ENSP00000421290:H183N;ENSP00000305221:H183N;ENSP00000370486:H47N	ENSP00000305221:H183N	H	-	1	0	UGT2B4	70395622	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.609000	0.05635	-1.696000	0.01421	-0.708000	0.03648	CAT		PASS	0.443	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		20	15	20	15	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77661306	77661306	+	Silent	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:77661306A>G	ENST00000296043.6	+	5	2933	c.1980A>G	c.(1978-1980)tcA>tcG	p.S660S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	660					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.S659S(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGACCAAGTCAGCCTTCTCAT	0.592																																						uc011cbx.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1978-1980)TCA>TCG		shroom family member 3 protein							57.0	65.0	62.0					4																	77661306		2203	4300	6503	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661306A>G	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1980A>G	4.37:g.77661306A>G						SHROOM3_uc011cbz.1_Silent_p.S484S|SHROOM3_uc003hkf.1_Silent_p.S535S|SHROOM3_uc003hkg.2_Silent_p.S438S	p.S660S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	2933	+			660					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.1980A>G	CCDS3579.2																																																																																				PASS	0.592	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		28	37	28	37	---	---	---	---
COL25A1	84570	broad.mit.edu	37	4	109784501	109784501	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:109784501C>T	ENST00000399132.1	-	21	1656	c.1126G>A	c.(1126-1128)Ggg>Agg	p.G376R	COL25A1_ENST00000399127.1_Missense_Mutation_p.G372R|COL25A1_ENST00000399126.1_Missense_Mutation_p.G376R	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.G376R(2)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CCAGGTTCCCCTCGCTCACCT	0.493																																						uc003hze.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1126-1128)GGG>AGG		collagen, type XXV, alpha 1 isoform 1							54.0	56.0	55.0					4																	109784501		1834	4086	5920	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109784501C>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1126G>A	4.37:g.109784501C>T	ENSP00000382083:p.Gly376Arg					COL25A1_uc003hzg.2_Missense_Mutation_p.G376R|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.G157R	p.G376R	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	20	1657	-		Hepatocellular(203;0.217)	376			Extracellular (Potential).|Collagen-like 5.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1126G>A	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579652	0.65992	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99353	-5.77;-5.77;-5.77	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.99638	0.9867	H	0.95645	3.7	0.51233	D	0.99991	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97796	1.0241	9	.	.	.	-4.5287	19.4425	0.94827	0.0:1.0:0.0:0.0	.	376;376	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	R	376;378;357;372;376;306	ENSP00000382083:G376R;ENSP00000382078:G372R;ENSP00000382077:G376R	.	G	-	1	0	COL25A1	110003950	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.845000	0.69437	2.578000	0.87016	0.650000	0.86243	GGG		PASS	0.493	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		10	9	10	9	---	---	---	---
SEC24B	10427	broad.mit.edu	37	4	110441621	110441621	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:110441621G>T	ENST00000265175.5	+	12	2281	c.2226G>T	c.(2224-2226)ttG>ttT	p.L742F	SEC24B_ENST00000399100.2_Missense_Mutation_p.L707F|SEC24B_ENST00000504968.2_Missense_Mutation_p.L772F	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	742					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.L742F(1)|p.L707F(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTCAAATGTTGATTGTGTCTG	0.358																																						uc003hzk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(2224-2226)TTG>TTT		SEC24 (S. cerevisiae) homolog B isoform a							96.0	89.0	91.0					4																	110441621		1843	4085	5928	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110441621G>T	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2226G>T	4.37:g.110441621G>T	ENSP00000265175:p.Leu742Phe					SEC24B_uc003hzl.2_Missense_Mutation_p.L707F|SEC24B_uc011cfp.1_Missense_Mutation_p.L772F|SEC24B_uc011cfq.1_Missense_Mutation_p.L741F|SEC24B_uc011cfr.1_Missense_Mutation_p.L706F	p.L742F	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	12	2281	+		Hepatocellular(203;0.217)	742					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.2226G>T	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921721	0.73213	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.78003	-1.14;-1.14;-1.14	5.66	5.66	0.87406	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.84933	0.5582	M	0.70842	2.15	0.80722	D	1	D;D;D;D;D	0.61080	0.97;0.97;0.989;0.987;0.989	P;P;P;P;P	0.59357	0.856;0.764;0.856;0.775;0.856	D	0.85894	0.1430	10	0.62326	D	0.03	-10.9054	13.963	0.64193	0.0722:0.0:0.9278:0.0	.	656;341;772;707;742	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	F	772;707;742	ENSP00000428564:L772F;ENSP00000382051:L707F;ENSP00000265175:L742F	ENSP00000265175:L742F	L	+	3	2	SEC24B	110661070	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.911000	0.28584	2.678000	0.91216	0.563000	0.77884	TTG		PASS	0.358	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			29	17	29	17	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114275181	114275181	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:114275181C>A	ENST00000357077.4	+	38	5460	c.5407C>A	c.(5407-5409)Cac>Aac	p.H1803N	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.H1770N|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1803					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.H1803N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAAGACCACCCACAGGCCACA	0.522																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(5407-5409)CAC>AAC		ankyrin 2 isoform 1							99.0	110.0	106.0					4																	114275181		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114275181C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5407C>A	4.37:g.114275181C>A	ENSP00000349588:p.His1803Asn					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.H1818N	p.H1803N	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5507	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1770					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5407C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.722970	0.00700	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.65916	-0.17;-0.18	5.44	4.58	0.56647	.	0.646518	0.14102	N	0.341329	T	0.50786	0.1636	L	0.29908	0.895	0.09310	N	0.999998	B;B	0.25105	0.057;0.118	B;B	0.26517	0.023;0.07	T	0.36311	-0.9753	9	.	.	.	.	13.5299	0.61615	0.3374:0.6626:0.0:0.0	.	1770;1803	Q01484;Q01484-4	ANK2_HUMAN;.	N	1803;1770	ENSP00000349588:H1803N;ENSP00000264366:H1770N	.	H	+	1	0	ANK2	114494630	0.002000	0.14202	0.005000	0.12908	0.008000	0.06430	1.400000	0.34577	1.489000	0.48450	0.655000	0.94253	CAC		PASS	0.522	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		29	24	29	24	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134075502	134075502	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:134075502G>C	ENST00000264360.5	+	2	3498	c.2672G>C	c.(2671-2673)aGa>aCa	p.R891T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	891					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R891T(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTAGTTGACAGACCTCGCCGA	0.368																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2671-2673)AGA>ACA		protocadherin 10 isoform 1 precursor							81.0	78.0	79.0					4																	134075502		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134075502G>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2672G>C	4.37:g.134075502G>C	ENSP00000264360:p.Arg891Thr						p.R891T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	2	3498	+			891			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2672G>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729049	0.69074	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.60797	0.16	5.95	5.95	0.96441	.	0.000000	0.46758	D	0.000266	T	0.52661	0.1748	L	0.46819	1.47	0.58432	D	0.999998	D	0.53151	0.958	B	0.38378	0.272	T	0.57051	-0.7877	10	0.48119	T	0.1	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	891	Q9P2E7	PCD10_HUMAN	T	891	ENSP00000264360:R891T	ENSP00000264360:R891T	R	+	2	0	PCDH10	134294952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	AGA		PASS	0.368	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		8	9	8	9	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187535395	187535395	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr4:187535395T>C	ENST00000441802.2	-	12	9388	c.9179A>G	c.(9178-9180)tAc>tGc	p.Y3060C		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3060	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y3063C(1)|p.Y3060C(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAATAACGTGTAAGTAATTTC	0.383										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(9178-9180)TAC>TGC		FAT tumor suppressor 1 precursor							190.0	183.0	186.0					4																	187535395		1885	4109	5994	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187535395T>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9179A>G	4.37:g.187535395T>C	ENSP00000406229:p.Tyr3060Cys	HNSCC(5;0.00058)					p.Y3060C	NM_005245	NP_005236	Q14517	FAT1_HUMAN			12	9367	-			3060			Extracellular (Potential).|Cadherin 28.			Missense_Mutation	SNP	ENST00000441802.2	37	c.9179A>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793646	0.70452	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.76709	-1.04	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	0.062050	0.64402	D	0.000003	D	0.90428	0.7003	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92772	0.6233	10	0.87932	D	0	.	14.8697	0.70448	0.0:0.0:0.0:1.0	.	3060	Q14517	FAT1_HUMAN	C	3060;3062	ENSP00000406229:Y3060C	ENSP00000260147:Y3062C	Y	-	2	0	FAT1	187772389	1.000000	0.71417	0.910000	0.35882	0.887000	0.51463	5.734000	0.68580	2.108000	0.64289	0.528000	0.53228	TAC		PASS	0.383	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		47	42	47	42	---	---	---	---
SLC6A19	340024	broad.mit.edu	37	5	1208963	1208963	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:1208963G>T	ENST00000304460.10	+	2	361	c.305G>T	c.(304-306)gGt>gTt	p.G102V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	102					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.G102V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCAGCCTGGGTGTGTGGAGC	0.682																																						uc003jbw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GGT>GTT		solute carrier family 6, member 19							39.0	41.0	40.0					5																	1208963		2202	4299	6501	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1208963G>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.305G>T	5.37:g.1208963G>T	ENSP00000305302:p.Gly102Val						p.G102V	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	361	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		102			Cytoplasmic (Potential).		A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.305G>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916996	0.73098	.	.	ENSG00000174358	ENST00000304460	T	0.75154	-0.91	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.87237	0.6127	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89745	0.3936	10	0.87932	D	0	.	17.3733	0.87384	0.0:0.0:1.0:0.0	.	102	Q695T7	S6A19_HUMAN	V	102	ENSP00000305302:G102V	ENSP00000305302:G102V	G	+	2	0	SLC6A19	1261963	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.537000	0.98070	2.091000	0.63221	0.485000	0.47835	GGT		PASS	0.682	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		30	29	30	29	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5303769	5303769	+	Missense_Mutation	SNP	C	C	T	rs375182504		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:5303769C>T	ENST00000274181.7	+	20	3214	c.3076C>T	c.(3076-3078)Ccc>Tcc	p.P1026S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1026	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1026S(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCAGCTGCTGCCCGACGCTGT	0.637																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(3076-3078)CCC>TCC		ADAM metallopeptidase with thrombospondin type 1							38.0	47.0	44.0					5																	5303769		2155	4262	6417	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5303769C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3076C>T	5.37:g.5303769C>T	ENSP00000274181:p.Pro1026Ser					ADAMTS16_uc003jdk.1_Missense_Mutation_p.P1026S	p.P1026S	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			20	3214	+			1026			TSP type-1 4.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3076C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988521	0.53934	.	.	ENSG00000145536	ENST00000274181	T	0.53423	0.62	4.79	4.79	0.61399	.	0.130811	0.51477	D	0.000095	T	0.58722	0.2142	L	0.58510	1.815	0.47584	D	0.999461	D;P	0.56521	0.976;0.908	P;P	0.55871	0.783;0.786	T	0.59064	-0.7524	10	0.42905	T	0.14	.	15.7068	0.77588	0.0:1.0:0.0:0.0	.	1026;1026	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	S	1026	ENSP00000274181:P1026S	ENSP00000274181:P1026S	P	+	1	0	ADAMTS16	5356769	1.000000	0.71417	0.986000	0.45419	0.060000	0.15804	3.295000	0.51794	2.359000	0.80004	0.650000	0.86243	CCC		PASS	0.637	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		13	32	13	32	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5489359	5489359	+	Silent	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:5489359G>T	ENST00000296564.7	+	19	6939	c.6717G>T	c.(6715-6717)cgG>cgT	p.R2239R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2239					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.R2239R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAGCTTGGCGGAGAGAGGCCT	0.532																																						uc003jdm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(6715-6717)CGG>CGT		hypothetical protein LOC23379							56.0	59.0	58.0					5																	5489359		1979	4161	6140	SO:0001819	synonymous_variant	23379							g.chr5:5489359G>T																												ENST00000296564.7:c.6717G>T	5.37:g.5489359G>T							p.R2239R	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			19	6939	+			2239					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.6717G>T	CCDS47187.1																																																																																				PASS	0.532	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			10	19	10	19	---	---	---	---
CDH18	1016	broad.mit.edu	37	5	19520841	19520841	+	Silent	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:19520841C>A	ENST00000507958.1	-	12	2427	c.1437G>T	c.(1435-1437)ctG>ctT	p.L479L	CDH18_ENST00000506372.1_Silent_p.L479L|CDH18_ENST00000274170.4_Silent_p.L479L|CDH18_ENST00000511273.1_Silent_p.L479L|CDH18_ENST00000502796.1_Silent_p.L479L|CDH18_ENST00000382275.1_Silent_p.L479L			Q13634	CAD18_HUMAN	cadherin 18, type 2	479	Cadherin 4. {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.L479L(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)					CATTGACATCCAGAACTCTAA	0.403																																						uc003jgc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1435-1437)CTG>CTT		cadherin 18, type 2 preproprotein							154.0	152.0	152.0					5																	19520841		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19520841C>A	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.1437G>T	5.37:g.19520841C>A						CDH18_uc003jgd.2_Silent_p.L479L|CDH18_uc011cnm.1_Silent_p.L479L	p.L479L	NM_004934	NP_004925	Q13634	CAD18_HUMAN			9	1814	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		479			Extracellular (Potential).|Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.1437G>T	CCDS3889.1																																																																																				PASS	0.403	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		39	109	39	109	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21752000	21752000	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:21752000C>T	ENST00000382254.1	-	15	3317	c.2231G>A	c.(2230-2232)aGt>aAt	p.S744N	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S704N|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.S744N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	744					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.S744N(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						CACGGACCCACTCCCTTCGTA	0.507										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2230-2232)AGT>AAT		cadherin 12, type 2 preproprotein							182.0	161.0	168.0					5																	21752000		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752000C>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2231G>A	5.37:g.21752000C>T	ENSP00000371689:p.Ser744Asn	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.S704N|CDH12_uc003jgk.2_Missense_Mutation_p.S744N|uc003jgj.2_Intron	p.S744N	NM_004061	NP_004052	P55289	CAD12_HUMAN			12	2689	-			744			Cytoplasmic (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.2231G>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.052694	0.00038	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.76839	-1.05;-1.05;-1.05	4.94	-6.55	0.01854	Cadherin, cytoplasmic domain (1);	0.812508	0.11767	N	0.531496	T	0.44540	0.1298	N	0.04148	-0.265	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.48779	-0.9005	10	0.02654	T	1	.	8.4716	0.32988	0.0:0.4059:0.3205:0.2736	.	704;744	B7Z2U6;P55289	.;CAD12_HUMAN	N	744;744;704	ENSP00000423577:S744N;ENSP00000371689:S744N;ENSP00000428786:S704N	ENSP00000371689:S744N	S	-	2	0	CDH12	21787757	0.004000	0.15560	0.000000	0.03702	0.025000	0.11179	0.807000	0.27140	-1.707000	0.01402	-2.767000	0.00120	AGT		PASS	0.507	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		42	51	42	51	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32780908	32780908	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:32780908G>T	ENST00000265074.8	+	5	1619	c.1276G>T	c.(1276-1278)Gcg>Tcg	p.A426S	NPR3_ENST00000415685.2_Missense_Mutation_p.A210S|AC026703.2_ENST00000607869.1_RNA|NPR3_ENST00000415167.2_Missense_Mutation_p.A426S|NPR3_ENST00000434067.2_Missense_Mutation_p.A210S	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	426					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.A426S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TGATGTGGAGGCGGGCACCCA	0.567																																						uc003jhv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1276-1278)GCG>TCG		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						150.0	165.0	160.0					5																	32780908		2195	4297	6492	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32780908G>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1276G>T	5.37:g.32780908G>T	ENSP00000265074:p.Ala426Ser					NPR3_uc010iuo.2_Missense_Mutation_p.A210S|NPR3_uc011cnz.1_Missense_Mutation_p.A210S|NPR3_uc003jhu.2_Missense_Mutation_p.A426S	p.A426S	NM_000908	NP_000899	P17342	ANPRC_HUMAN			5	1494	+			426			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1276G>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553630	0.27739	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T;T	0.75477	-0.69;-0.69;-0.69;-0.94;-0.93	5.65	5.65	0.86999	.	0.219324	0.48767	D	0.000174	T	0.59128	0.2171	L	0.33485	1.01	0.41539	D	0.988504	B;B;B;B	0.12013	0.002;0.002;0.005;0.005	B;B;B;B	0.13407	0.003;0.003;0.009;0.009	T	0.52283	-0.8596	10	0.07325	T	0.83	-17.9337	10.5144	0.44881	0.1441:0.0:0.8559:0.0	.	210;210;426;426	E7EPG9;B4DT84;P17342;Q60I31	.;.;ANPRC_HUMAN;.	S	203;210;210;426;426	ENSP00000425325:A203S;ENSP00000388408:A210S;ENSP00000402490:A210S;ENSP00000265074:A426S;ENSP00000398028:A426S	ENSP00000265074:A426S	A	+	1	0	NPR3	32816665	0.999000	0.42202	0.988000	0.46212	0.870000	0.49936	2.128000	0.42045	2.825000	0.97269	0.655000	0.94253	GCG		PASS	0.567	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		65	87	65	87	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33576326	33576327	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:33576326_33576327GG>TT	ENST00000504830.1	-	19	4139_4140	c.3804_3805CC>AA	c.(3802-3807)caCCtg>caAAtg	p.1268_1269HL>QM	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.1183_1184HL>QM|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1268	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L1269M(1)|p.H1268_L1269>QM(1)|p.H1268Q(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGAAGTTTCAGGTGGTTACGGT	0.49										HNSCC(64;0.19)																												uc003jia.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3805-3807)CTG>ATG|c.(3802-3804)CAC>CAA		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576326G>T|g.chr5:33576327G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3804_3805delinsTT	5.37:g.33576326_33576327delinsTT	ENSP00000422554:p.H1268_L1269delinsQM	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.L1184M|ADAMTS12_uc010iuq.1_Missense_Mutation_p.H1183Q	p.L1269M|p.H1268Q	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3968|3967	-			1269|1268			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3805C>A|c.3804C>A	CCDS34140.1																																																																																				PASS	0.490	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		54|56	198|195	54	195	---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34814735	34814735	+	Silent	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:34814735G>T	ENST00000265109.3	+	12	1187	c.900G>T	c.(898-900)tcG>tcT	p.S300S	RAI14_ENST00000512629.1_Silent_p.S271S|RAI14_ENST00000515799.1_Silent_p.S303S|RAI14_ENST00000506376.1_Silent_p.S292S|RAI14_ENST00000428746.2_Silent_p.S300S|RAI14_ENST00000397449.1_Silent_p.S293S|RAI14_ENST00000503673.1_Silent_p.S300S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	300						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.S300S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTCCACTATCGGGAAAGGAAT	0.333																																						uc003jir.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(898-900)TCG>TCT		retinoic acid induced 14 isoform a							176.0	156.0	163.0					5																	34814735		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34814735G>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.900G>T	5.37:g.34814735G>T						RAI14_uc010iur.2_Silent_p.S271S|RAI14_uc011coj.1_Silent_p.S300S|RAI14_uc010ius.1_Silent_p.S229S|RAI14_uc003jis.2_Silent_p.S303S|RAI14_uc003jit.2_Silent_p.S300S|RAI14_uc011cok.1_Silent_p.S292S	p.S300S	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			12	1096	+	all_lung(31;0.000191)		300					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.900G>T	CCDS34142.1																																																																																				PASS	0.333	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		27	69	27	69	---	---	---	---
GHR	2690	broad.mit.edu	37	5	42718921	42718921	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:42718921G>A	ENST00000230882.4	+	10	1502	c.1312G>A	c.(1312-1314)Gat>Aat	p.D438N	GHR_ENST00000357703.3_Missense_Mutation_p.D416N|GHR_ENST00000537449.1_Missense_Mutation_p.D251N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	438					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.D438N(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACCTTATCATGATGCTTGCCC	0.473																																						uc003jmt.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|kidney(1)|skin(1)	6						c.(1312-1314)GAT>AAT		growth hormone receptor precursor	Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						74.0	66.0	69.0					5																	42718921		2203	4300	6503	SO:0001583	missense	2690				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	g.chr5:42718921G>A		CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1312G>A	5.37:g.42718921G>A	ENSP00000230882:p.Asp438Asn					GHR_uc011cpq.1_Missense_Mutation_p.D251N	p.D438N	NM_000163	NP_000154	P10912	GHR_HUMAN			10	1355	+		Myeloproliferative disorder(839;0.00878)	438			Cytoplasmic (Potential).		Q9HCX2	Missense_Mutation	SNP	ENST00000230882.4	37	c.1312G>A	CCDS3940.1	.	.	.	.	.	.	.	.	.	.	G	7.986	0.752185	0.15778	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.37915	1.17;1.17;1.17	5.76	0.0473	0.14280	.	0.899680	0.10019	N	0.726168	T	0.38639	0.1048	M	0.90145	3.09	0.09310	N	1	B	0.10296	0.003	B	0.21151	0.033	T	0.45600	-0.9250	10	0.27082	T	0.32	-1.2329	1.0093	0.01494	0.224:0.3103:0.2677:0.198	.	438	P10912	GHR_HUMAN	N	438;416;251	ENSP00000230882:D438N;ENSP00000350335:D416N;ENSP00000442206:D251N	ENSP00000230882:D438N	D	+	1	0	GHR	42754678	0.001000	0.12720	0.000000	0.03702	0.452000	0.32318	0.551000	0.23361	0.153000	0.19213	0.591000	0.81541	GAT		PASS	0.473	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211605.2	NM_000163		11	30	11	30	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45267203	45267203	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:45267203G>T	ENST00000303230.4	-	7	1828	c.1771C>A	c.(1771-1773)Cta>Ata	p.L591I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	591					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.L591I(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATTCGATCTAGTCGGTCAATG	0.398																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1771-1773)CTA>ATA		hyperpolarization activated cyclic							150.0	139.0	143.0					5																	45267203		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267203G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1771C>A	5.37:g.45267203G>T	ENSP00000307342:p.Leu591Ile						p.L591I	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	1796	-			591			cAMP.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.1771C>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000349	0.74818	.	.	ENSG00000164588	ENST00000303230	D	0.97811	-4.55	5.91	5.04	0.67666	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.51477	D	0.000099	D	0.97365	0.9138	M	0.72353	2.195	0.58432	D	0.999996	B	0.28636	0.218	B	0.41860	0.368	D	0.96917	0.9671	10	0.87932	D	0	.	11.1777	0.48610	0.1399:0.0:0.8601:0.0	.	591	O60741	HCN1_HUMAN	I	591	ENSP00000307342:L591I	ENSP00000307342:L591I	L	-	1	2	HCN1	45302960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.741000	0.55090	1.524000	0.49035	0.655000	0.94253	CTA		PASS	0.398	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		24	52	24	52	---	---	---	---
PARP8	79668	broad.mit.edu	37	5	50125732	50125732	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:50125732G>T	ENST00000281631.5	+	22	2328	c.2170G>T	c.(2170-2172)Ggt>Tgt	p.G724C	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.G703C|PARP8_ENST00000503750.2_Missense_Mutation_p.G682C|PARP8_ENST00000514342.2_Missense_Mutation_p.G435C|PARP8_ENST00000514067.2_Missense_Mutation_p.G682C|PARP8_ENST00000505697.2_Missense_Mutation_p.G724C	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	724	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.G724C(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTAGCTCCATGGTGCAATGTA	0.363																																						uc003jon.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|large_intestine(1)|ovary(1)	5						c.(2170-2172)GGT>TGT		poly (ADP-ribose) polymerase family, member 8							190.0	181.0	184.0					5																	50125732		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50125732G>T	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2170G>T	5.37:g.50125732G>T	ENSP00000281631:p.Gly724Cys					PARP8_uc011cpz.1_Missense_Mutation_p.G616C|PARP8_uc003joo.2_Missense_Mutation_p.G724C|PARP8_uc003jop.2_Missense_Mutation_p.G682C	p.G724C	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			23	2352	+		Lung NSC(810;0.0305)|Breast(144;0.222)	724			PARP catalytic.		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.2170G>T	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948240	0.92593	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	5.51	5.51	0.81932	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.993	T	0.77691	-0.2493	9	.	.	.	-16.3861	19.4213	0.94723	0.0:0.0:1.0:0.0	.	616;682;724	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	C	724;682;435;724;682;703;435;435	ENSP00000422217:G724C;ENSP00000440851:G682C;ENSP00000439022:G435C;ENSP00000281631:G724C;ENSP00000424814:G682C;ENSP00000423946:G703C	.	G	+	1	0	PARP8	50161489	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.837000	0.99465	2.589000	0.87451	0.655000	0.94253	GGT		PASS	0.363	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		32	25	32	25	---	---	---	---
MAST4	375449	broad.mit.edu	37	5	66461843	66461844	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:66461843_66461844GG>AT	ENST00000403625.2	+	29	7131_7132	c.6836_6837GG>AT	c.(6835-6837)aGG>aAT	p.R2279N	MAST4_ENST00000403666.1_Missense_Mutation_p.R2090N|MAST4_ENST00000405643.1_Missense_Mutation_p.R2100N|MAST4_ENST00000404260.3_Missense_Mutation_p.R2282N|MAST4_ENST00000261569.7_Missense_Mutation_p.R2085N	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2282						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R2282K(1)|p.R2282N(1)|p.R2282S(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CACACTGACAGGGCTCCTCTAG	0.644											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jut.1																			3	Substitution - Missense(3)		lung(3)	lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(6268-6270)AGG>AAG|c.(6268-6270)AGG>AGT		microtubule associated serine/threonine kinase																																				SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461843G>A|g.chr5:66461844G>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	Exception_encountered	5.37:g.66461843_66461844delinsAT	ENSP00000385727:p.Arg2279Asn		OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1092	MAST4_uc003juw.2_Missense_Mutation_p.R2018K|MAST4_uc003jux.2_Intron|MAST4_uc003juw.2_Missense_Mutation_p.R2018S|MAST4_uc003jux.2_Intron	p.R2090K|p.R2090S	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	6337|6338	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2282					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.6269G>A|c.6270G>T	CCDS54861.1																																																																																				PASS	0.644	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			16|15	7	15	7	---	---	---	---
CHD1	1105	broad.mit.edu	37	5	98235274	98235274	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:98235274C>G	ENST00000284049.3	-	7	1144	c.995G>C	c.(994-996)tGg>tCg	p.W332S		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	332	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.W332S(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTCTGTCTCCCAAGTGTTGTG	0.368																																						uc003knf.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(994-996)TGG>TCG		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						173.0	188.0	183.0					5																	98235274		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98235274C>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.995G>C	5.37:g.98235274C>G	ENSP00000284049:p.Trp332Ser						p.W332S	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	7	1143	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	332			Chromo 1.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.995G>C	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404604	0.83230	.	.	ENSG00000153922	ENST00000284049	D	0.94758	-3.51	5.74	5.74	0.90152	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.000000	0.32703	U	0.005755	D	0.98223	0.9412	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98844	1.0756	10	0.87932	D	0	.	19.9145	0.97053	0.0:1.0:0.0:0.0	.	332	O14646	CHD1_HUMAN	S	332	ENSP00000284049:W332S	ENSP00000284049:W332S	W	-	2	0	CHD1	98263174	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.709000	0.92574	0.655000	0.94253	TGG		PASS	0.368	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		57	65	57	65	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140558688	140558688	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:140558688C>T	ENST00000239444.2	+	1	1318	c.1073C>T	c.(1072-1074)cCt>cTt	p.P358L	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	358	Cadherin 4. {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.P358L(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCAATACCTGAGAATGCG	0.458																																						uc011dai.1																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(1072-1074)CCT>CTT		protocadherin beta 8 precursor							232.0	303.0	279.0					5																	140558688		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558688C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1073C>T	5.37:g.140558688C>T	ENSP00000239444:p.Pro358Leu					PCDHB16_uc003liv.2_5'Flank	p.P358L	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1259	+			358			Cadherin 4.|Extracellular (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1073C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	8.652	0.898491	0.17686	.	.	ENSG00000120322	ENST00000239444	T	0.73469	-0.75	4.25	3.36	0.38483	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.73908	0.3647	L	0.59436	1.845	0.09310	N	1	P	0.35872	0.525	B	0.44163	0.443	T	0.64647	-0.6358	9	0.52906	T	0.07	.	7.6673	0.28439	0.0:0.7985:0.0:0.2015	.	358	Q9UN66	PCDB8_HUMAN	L	358	ENSP00000239444:P358L	ENSP00000239444:P358L	P	+	2	0	PCDHB8	140538872	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.634000	0.24614	0.742000	0.32697	0.585000	0.79938	CCT		PASS	0.458	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		49	827	49	827	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140564015	140564015	+	Silent	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:140564015C>A	ENST00000361016.2	+	1	3036	c.1881C>A	c.(1879-1881)gcC>gcA	p.A627A		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	627	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A627A(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGCACCGCCAGGCTGCTGA	0.697																																						uc003liv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1879-1881)GCC>GCA		protocadherin beta 16 precursor							23.0	24.0	24.0					5																	140564015		2040	4017	6057	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140564015C>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1881C>A	5.37:g.140564015C>A						PCDHB9_uc003liw.1_5'Flank	p.A627A	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	3036	+			627			Cadherin 6.|Extracellular (Potential).		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1881C>A	CCDS4251.1																																																																																				PASS	0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		41	58	41	58	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140572824	140572824	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:140572824G>T	ENST00000239446.4	+	1	883	c.699G>T	c.(697-699)ttG>ttT	p.L233F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	233	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L233F(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGTTGTCTTGGACGTCAATG	0.552																																						uc003lix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(697-699)TTG>TTT		protocadherin beta 10 precursor							73.0	76.0	75.0					5																	140572824		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572824G>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.699G>T	5.37:g.140572824G>T	ENSP00000239446:p.Leu233Phe						p.L233F	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	873	+			233			Cadherin 2.|Extracellular (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.699G>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756196	0.31137	.	.	ENSG00000120324	ENST00000239446	T	0.01804	4.63	3.41	0.566	0.17317	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.10766	0.0263	H	0.95402	3.665	0.36378	D	0.861724	D	0.57257	0.979	D	0.67103	0.949	T	0.02150	-1.1205	9	0.51188	T	0.08	.	3.8163	0.08817	0.3873:0.0:0.4494:0.1633	.	233	Q9UN67	PCDBA_HUMAN	F	233	ENSP00000239446:L233F	ENSP00000239446:L233F	L	+	3	2	PCDHB10	140553008	0.089000	0.21612	0.033000	0.17914	0.511000	0.34104	-0.236000	0.09003	-0.004000	0.14419	0.556000	0.70494	TTG		PASS	0.552	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		33	29	33	29	---	---	---	---
PCDHGA1	56114	broad.mit.edu	37	5	140712227	140712227	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:140712227C>T	ENST00000517417.1	+	1	1976	c.1976C>T	c.(1975-1977)aCg>aTg	p.T659M	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T659M	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	659	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.T659M(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACTGTCACGCTCACCGTG	0.687																																						uc003lji.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(1975-1977)ACG>ATG		protocadherin gamma subfamily A, 1 isoform 1							36.0	45.0	42.0					5																	140712227		2202	4296	6498	SO:0001583	missense	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712227C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1976C>T	5.37:g.140712227C>T	ENSP00000431083:p.Thr659Met					PCDHGA1_uc011dan.1_Missense_Mutation_p.T659M	p.T659M	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1976	+			659			Extracellular (Potential).|Cadherin 6.		Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.1976C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882708	0.33255	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.55588	0.51;0.51	3.77	2.81	0.32909	Cadherin (4);Cadherin-like (1);	0.131204	0.33670	N	0.004665	T	0.68632	0.3022	M	0.87617	2.895	0.22675	N	0.998861	D;D	0.65815	0.995;0.985	P;P	0.55667	0.773;0.781	T	0.64504	-0.6392	10	0.87932	D	0	.	13.4948	0.61419	0.0:0.8421:0.1579:0.0	.	659;659	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	M	659	ENSP00000431083:T659M;ENSP00000367345:T659M	ENSP00000367345:T659M	T	+	2	0	PCDHGA1	140692411	0.001000	0.12720	0.796000	0.32109	0.224000	0.24922	0.771000	0.26633	2.104000	0.64026	0.585000	0.79938	ACG		PASS	0.687	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		37	15	37	15	---	---	---	---
NIPAL4	348938	broad.mit.edu	37	5	156890327	156890327	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:156890327G>C	ENST00000311946.7	+	2	565	c.449G>C	c.(448-450)gGa>gCa	p.G150A	NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.G150A	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	150						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.G88A(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GTGGCCACGGGAGCCACTCGA	0.612																																						uc003lwx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)GGA>GCA		ichthyin protein							21.0	25.0	23.0					5																	156890327		1931	4138	6069	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156890327G>C	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.449G>C	5.37:g.156890327G>C	ENSP00000311687:p.Gly150Ala					ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.G150A|NIPAL4_uc010jin.1_Missense_Mutation_p.E85Q	p.G150A	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN			2	565	+			150			Cytoplasmic (Potential).		A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.449G>C	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	G	8.448	0.852352	0.17106	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	T;D	0.90324	-0.29;-2.65	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.95456	0.8524	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95817	0.8846	10	0.66056	D	0.02	-9.0927	13.1389	0.59424	0.0:0.0:0.8399:0.1601	.	150;150	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	A	150	ENSP00000406456:G150A;ENSP00000311687:G150A	ENSP00000311687:G150A	G	+	2	0	NIPAL4	156822905	1.000000	0.71417	0.436000	0.26797	0.053000	0.15095	7.521000	0.81832	2.265000	0.75225	0.561000	0.74099	GGA		PASS	0.612	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		8	5	8	5	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168175347	168175347	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:168175347G>T	ENST00000519560.1	-	20	2649	c.2230C>A	c.(2230-2232)Cgc>Agc	p.R744S	SLIT3_ENST00000404867.3_Missense_Mutation_p.R744S|SLIT3_ENST00000332966.8_Missense_Mutation_p.R744S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	744	LRRNT 4.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.R744S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGAGGGCGCGGAGCCCCTTG	0.632																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2230-2232)CGC>AGC		slit homolog 3 precursor							86.0	86.0	86.0					5																	168175347		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168175347G>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2230C>A	5.37:g.168175347G>T	ENSP00000430333:p.Arg744Ser					SLIT3_uc010jjg.2_Missense_Mutation_p.R744S	p.R744S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		20	2650	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	744			LRRNT 4.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.2230C>A	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	g	13.15	2.152182	0.38021	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.96265	-3.96;-3.96;-3.96	5.3	5.3	0.74995	Leucine-rich repeat-containing N-terminal (2);	0.439088	0.25851	N	0.027892	D	0.92090	0.7493	N	0.17594	0.5	0.26581	N	0.973374	B	0.12630	0.006	B	0.23716	0.048	D	0.85573	0.1235	10	0.54805	T	0.06	.	13.9178	0.63911	0.0:0.0:0.848:0.152	.	744	O75094	SLIT3_HUMAN	S	744	ENSP00000430333:R744S;ENSP00000332164:R744S;ENSP00000384890:R744S	ENSP00000332164:R744S	R	-	1	0	SLIT3	168107925	0.011000	0.17503	0.921000	0.36526	0.680000	0.39746	1.456000	0.35201	2.483000	0.83821	0.550000	0.68814	CGC		PASS	0.632	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		24	21	24	21	---	---	---	---
NOP16	51491	broad.mit.edu	37	5	175815445	175815445	+	Silent	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:175815445C>T	ENST00000389158.5	-	1	531	c.96G>A	c.(94-96)ccG>ccA	p.P32P	NOP16_ENST00000507413.1_Silent_p.P32P|NOP16_ENST00000509257.1_Silent_p.P32P|NOP16_ENST00000510123.1_Silent_p.P32P|HIGD2A_ENST00000274787.2_5'Flank			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	32				PR -> RG (in Ref. 2; AAD34112 and 3; AAF29075). {ECO:0000305}.		intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P32P(1)|p.R8H(1)		central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						ATTCGATCCGCGGCGCTGCCT	0.647																																						uc011dfl.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(94-96)CCG>CCA		NOP16 nucleolar protein homolog							71.0	80.0	77.0					5																	175815445		2059	4196	6255	SO:0001819	synonymous_variant	51491					nucleolus		g.chr5:175815445C>T		CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"""hypothetical protein HSPC111"", ""HBV pre-S2 trans-regulated protein 3"""	612861	"""nucleolar protein 16 homolog (yeast)"", ""NOP16 nucleolar protein homolog (yeast)"""			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.96G>A	5.37:g.175815445C>T						NOP16_uc003med.2_Silent_p.P32P|NOP16_uc003mee.2_Silent_p.P32P|NOP16_uc011dfm.1_Silent_p.P32P|HIGD2A_uc003meg.2_5'Flank	p.P32P	NM_016391	NP_057475	Q9Y3C1	NOP16_HUMAN			1	96	-			32	PR -> RG (in Ref. 2; AAD34112 and 3; AAF29075).				B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Silent	SNP	ENST00000389158.5	37	c.96G>A	CCDS43403.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013331	0.35511	.	.	ENSG00000048162	ENST00000341213	.	.	.	5.23	0.366	0.16136	.	0.709949	0.14386	N	0.322858	T	0.48554	0.1506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44236	-0.9341	6	0.49607	T	0.09	.	2.1604	0.03823	0.1106:0.444:0.1732:0.2722	.	.	.	.	H	8	.	ENSP00000340662:R8H	R	-	2	0	NOP16	175748051	0.349000	0.24870	0.996000	0.52242	0.988000	0.76386	-0.891000	0.04135	-0.118000	0.11851	0.655000	0.94253	CGC		PASS	0.647	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371963.1	NM_016391		46	26	46	26	---	---	---	---
DOK3	79930	broad.mit.edu	37	5	176936823	176936823	+	Missense_Mutation	SNP	C	C	A	rs375009995		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr5:176936823C>A	ENST00000357198.4	-	1	35	c.31G>T	c.(31-33)Gcg>Tcg	p.A11S	DOK3_ENST00000312943.6_Intron|DOK3_ENST00000501403.2_Intron|DOK3_ENST00000377112.4_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	11					Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.A11S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGGGCACGCGCGTCTGATCGC	0.711																																						uc003mhk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(31-33)GCG>TCG		docking protein 3 isoform 1							52.0	52.0	52.0					5																	176936823		2202	4300	6502	SO:0001583	missense	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176936823C>A	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.31G>T	5.37:g.176936823C>A	ENSP00000349727:p.Ala11Ser					DOK3_uc003mhh.3_5'Flank|DOK3_uc003mhi.3_Intron|DOK3_uc003mhj.3_Intron|DOK3_uc003mhl.2_Intron	p.A11S	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		1	36	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	11					E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	ENST00000357198.4	37	c.31G>T	CCDS4426.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210051	0.39003	.	.	ENSG00000146094	ENST00000357198	T	0.20069	2.1	3.22	-2.08	0.07254	.	1.986640	0.03416	N	0.205582	T	0.10594	0.0259	N	0.08118	0	0.18873	N	0.999988	B	0.17852	0.024	B	0.11329	0.006	T	0.31081	-0.9956	10	0.87932	D	0	-23.7375	3.2324	0.06752	0.1939:0.3067:0.0:0.4994	.	11	Q7L591	DOK3_HUMAN	S	11	ENSP00000349727:A11S	ENSP00000349727:A11S	A	-	1	0	DOK3	176869429	.	.	0.001000	0.08648	0.012000	0.07955	.	.	-0.494000	0.06669	0.491000	0.48974	GCG		PASS	0.711	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		6	7	6	7	---	---	---	---
NRSN1	140767	broad.mit.edu	37	6	24146060	24146060	+	Silent	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:24146060C>T	ENST00000378491.4	+	4	775	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_080723.4	NP_542454.3			neurensin 1									p.I158I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AAGAACGAATCGCAGACATCA	0.498																																						uc010jpq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(472-474)ATC>ATT		neurensin 1							60.0	62.0	61.0					6																	24146060		2203	4300	6503	SO:0001819	synonymous_variant	140767				nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		g.chr6:24146060C>T	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.474C>T	6.37:g.24146060C>T							p.I158I	NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN			4	711	+			158						Silent	SNP	ENST00000378491.4	37	c.474C>T	CCDS4549.1																																																																																				PASS	0.498	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	NM_080723		12	36	12	36	---	---	---	---
OR2B6	26212	broad.mit.edu	37	6	27925264	27925264	+	Silent	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:27925264A>T	ENST00000244623.1	+	1	246	c.246A>T	c.(244-246)ctA>ctT	p.L82L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L82L(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACAAATGCTAGTAAATTTAT	0.433																																						uc011dkx.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(244-246)CTA>CTT		olfactory receptor, family 2, subfamily B,							98.0	93.0	95.0					6																	27925264		2203	4300	6503	SO:0001819	synonymous_variant	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925264A>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.246A>T	6.37:g.27925264A>T							p.L82L	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	246	+			82			Extracellular (Potential).		O43883|Q6IF89|Q9H5B0	Silent	SNP	ENST00000244623.1	37	c.246A>T	CCDS4642.1																																																																																				PASS	0.433	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			19	66	19	66	---	---	---	---
OR14J1	442191	broad.mit.edu	37	6	29275313	29275313	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:29275313C>T	ENST00000377160.2	+	1	911	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L283F(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ACCTCCAACACTCAATCCAGT	0.433																																						uc011dln.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(847-849)CTC>TTC		olfactory receptor, family 5, subfamily U member							133.0	133.0	133.0					6																	29275313		1511	2709	4220	SO:0001583	missense	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29275313C>T		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.847C>T	6.37:g.29275313C>T	ENSP00000366365:p.Leu283Phe						p.L283F	NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN			1	847	+			283			Helical; Name=7; (Potential).		A2BEC2|B0V078|Q5ST27	Missense_Mutation	SNP	ENST00000377160.2	37	c.847C>T	CCDS34362.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404692	0.25378	.	.	ENSG00000204695	ENST00000377160	T	0.48522	0.81	4.86	1.0	0.19881	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33691	N	0.004644	T	0.19644	0.0472	M	0.66297	2.02	0.09310	N	1	B	0.27594	0.182	B	0.28011	0.085	T	0.24083	-1.0170	10	0.52906	T	0.07	.	1.8039	0.03076	0.1252:0.3249:0.3173:0.2326	.	283	Q9UGF5	O14J1_HUMAN	F	283	ENSP00000366365:L283F	ENSP00000366365:L283F	L	+	1	0	OR14J1	29383292	0.001000	0.12720	0.013000	0.15412	0.214000	0.24535	-0.156000	0.10100	0.054000	0.16065	-0.923000	0.02734	CTC		PASS	0.433	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			4	95	4	95	---	---	---	---
DHX16	8449	broad.mit.edu	37	6	30633402	30633402	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:30633402C>G	ENST00000376442.3	-	5	970	c.775G>C	c.(775-777)Gac>Cac	p.D259H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	259					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.D259H(1)		kidney(2)|ovary(2)	4						AGCTCCACGTCCCCAAAAAGG	0.627																																						uc003nqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)	4						c.(775-777)GAC>CAC		DEAH (Asp-Glu-Ala-His) box polypeptide 16							80.0	78.0	79.0					6																	30633402		1510	2708	4218	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30633402C>G	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.775G>C	6.37:g.30633402C>G	ENSP00000365625:p.Asp259His					DHX16_uc011dmo.1_Missense_Mutation_p.D199H	p.D259H	NM_003587	NP_003578	O60231	DHX16_HUMAN			5	987	-			259					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.775G>C	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.208916	0.79240	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.48201	0.82;0.82	5.12	5.12	0.69794	.	0.577217	0.18910	N	0.127767	T	0.42381	0.1200	L	0.49778	1.585	0.80722	D	1	P;P	0.47910	0.902;0.835	P;P	0.47430	0.547;0.497	T	0.34551	-0.9824	10	0.48119	T	0.1	.	17.4724	0.87649	0.0:1.0:0.0:0.0	.	199;259	B4DZ28;O60231	.;DHX16_HUMAN	H	259;199	ENSP00000365625:D259H;ENSP00000399101:D199H	ENSP00000365625:D259H	D	-	1	0	DHX16	30741381	0.962000	0.33011	0.981000	0.43875	0.964000	0.63967	3.119000	0.50422	2.652000	0.90054	0.586000	0.80456	GAC		PASS	0.627	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		29	36	29	36	---	---	---	---
VARS2	57176	broad.mit.edu	37	6	30892295	30892295	+	Silent	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:30892295C>A	ENST00000321897.5	+	25	3263	c.2631C>A	c.(2629-2631)gcC>gcA	p.A877A	VARS2_ENST00000542001.1_Silent_p.A737A|VARS2_ENST00000416670.2_Silent_p.A877A|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Silent_p.A907A			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	877					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.A877A(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GCCCCCCTGCCCCCAGCATCT	0.682																																						uc003nsc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2629-2631)GCC>GCA		valyl-tRNA synthetase 2, mitochondrial							17.0	22.0	20.0					6																	30892295		1505	2707	4212	SO:0001819	synonymous_variant	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30892295C>A	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2631C>A	6.37:g.30892295C>A						VARS2_uc011dmx.1_Silent_p.A877A|VARS2_uc011dmy.1_Silent_p.A737A|VARS2_uc011dmz.1_Silent_p.A907A|VARS2_uc011dna.1_Silent_p.A875A|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Silent_p.A315A|VARS2_uc010jsg.1_Silent_p.A249A|VARS2_uc010jsh.1_Silent_p.A21A	p.A877A	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN			25	3263	+			877					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	c.2631C>A	CCDS34387.1																																																																																				PASS	0.682	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		4	23	4	23	---	---	---	---
PNPLA1	285848	broad.mit.edu	37	6	36260856	36260856	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:36260856T>A	ENST00000394571.2	+	3	457	c.457T>A	c.(457-459)Ttc>Atc	p.F153I	PNPLA1_ENST00000388715.3_Missense_Mutation_p.F58I|PNPLA1_ENST00000312917.5_Missense_Mutation_p.F58I	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	153	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)	p.F153I(1)|p.F58I(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CTGCAGCTGCTTCGTCCCGGT	0.662																																						uc010jwf.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(457-459)TTC>ATC		patatin-like phospholipase domain containing 1							116.0	96.0	103.0					6																	36260856		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36260856T>A		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.457T>A	6.37:g.36260856T>A	ENSP00000378072:p.Phe153Ile					PNPLA1_uc003olw.1_Missense_Mutation_p.F58I|PNPLA1_uc010jwe.1_Missense_Mutation_p.F58I	p.F153I	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN			3	457	+			153			Patatin.		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.457T>A	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	T	31	5.059223	0.93846	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.45	5.45	0.79879	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.64402	D	0.000001	D	0.85596	0.5733	M	0.80847	2.515	0.49687	D	0.999812	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88099	0.2818	10	0.87932	D	0	-17.3464	13.4812	0.61336	0.0:0.0:0.0:1.0	.	153;58	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	I	58;58;154;153	ENSP00000373367:F58I;ENSP00000321116:F58I;ENSP00000391868:F154I;ENSP00000378072:F153I	ENSP00000321116:F58I	F	+	1	0	PNPLA1	36368834	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.583000	0.74053	2.071000	0.62044	0.533000	0.62120	TTC		PASS	0.662	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		24	32	24	32	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38840381	38840381	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:38840381G>T	ENST00000359357.3	+	48	6663	c.6409G>T	c.(6409-6411)Gtt>Ttt	p.V2137F	DNAH8_ENST00000441566.1_Missense_Mutation_p.V2101F|DNAH8_ENST00000449981.2_Missense_Mutation_p.V2354F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2137	AAA 2. {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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V2137F(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						AAAGACAACCGTTATCACGAT	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.(6409-6411)GTT>TTT		dynein, axonemal, heavy polypeptide 8							111.0	107.0	108.0					6																	38840381		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38840381G>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.6409G>T	6.37:g.38840381G>T	ENSP00000352312:p.Val2137Phe						p.V2137F	NM_001371	NP_001362					48	7009	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.6409G>T		.	.	.	.	.	.	.	.	.	.	G	12.98	2.100423	0.37048	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.57273	0.41;0.41;0.41	5.62	5.62	0.85841	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.284759	0.32719	N	0.005726	T	0.62356	0.2421	M	0.75447	2.3	0.29139	N	0.879117	D	0.71674	0.998	D	0.67725	0.953	T	0.61869	-0.6974	10	0.87932	D	0	.	13.2544	0.60070	0.0728:0.0:0.9272:0.0	.	2137	Q96JB1	DYH8_HUMAN	F	2342;2342;2137;2101	ENSP00000333363:V2342F;ENSP00000352312:V2137F;ENSP00000402294:V2101F	ENSP00000333363:V2342F	V	+	1	0	DNAH8	38948359	0.064000	0.20934	0.581000	0.28614	0.022000	0.10575	2.011000	0.40922	2.795000	0.96236	0.655000	0.94253	GTT		PASS	0.428	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		22	60	22	60	---	---	---	---
GUCA1A	2978	broad.mit.edu	37	6	42141454	42141454	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:42141454A>C	ENST00000394237.1	+	3	1079	c.103A>C	c.(103-105)Acc>Ccc	p.T35P	GUCA1A_ENST00000541991.1_Missense_Mutation_p.T35P|GUCA1A_ENST00000372958.1_Missense_Mutation_p.T35P|GUCA1A_ENST00000053469.4_Missense_Mutation_p.T35P			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	35	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.T35P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGCCAACTCACCCTCTATGA	0.552																																						uc003orx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(103-105)ACC>CCC		guanylate cyclase activator 1A (retina)							143.0	125.0	131.0					6																	42141454		2203	4300	6503	SO:0001583	missense	2978				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr6:42141454A>C		CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"""EF-hand domain containing"""	4678	protein-coding gene	gene with protein product	"""cone dystrophy 3"""	600364	"""chromosome 6 open reading frame 131"""	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.103A>C	6.37:g.42141454A>C	ENSP00000377784:p.Thr35Pro					GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Missense_Mutation_p.T35P	p.T35P	NM_000409	NP_000400	P43080	GUC1A_HUMAN	STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	748	+	Colorectal(47;0.196)		35			EF-hand 1.		B3KWT4|Q7Z6T1|Q9NU14	Missense_Mutation	SNP	ENST00000394237.1	37	c.103A>C	CCDS4864.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903025	0.72754	.	.	ENSG00000048545	ENST00000418175;ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	5.75	5.75	0.90469	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	M	0.87269	2.87	0.58432	D	0.999992	D	0.76494	0.999	D	0.85130	0.997	D	0.93241	0.6626	10	0.72032	D	0.01	.	14.0228	0.64568	1.0:0.0:0.0:0.0	.	35	P43080	GUC1A_HUMAN	P	35;35;31;35;35;35	ENSP00000388438:T35P;ENSP00000437476:T35P;ENSP00000053469:T35P;ENSP00000377784:T35P;ENSP00000362049:T35P	ENSP00000053469:T35P	T	+	1	0	GUCA1A	42249432	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.327000	0.79147	2.194000	0.70268	0.533000	0.62120	ACC		PASS	0.552	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1			33	35	33	35	---	---	---	---
GUCA1A	2978	broad.mit.edu	37	6	42141463	42141463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:42141463G>T	ENST00000394237.1	+	3	1088	c.112G>T	c.(112-114)Gag>Tag	p.E38*	GUCA1A_ENST00000541991.1_Nonsense_Mutation_p.E38*|GUCA1A_ENST00000372958.1_Nonsense_Mutation_p.E38*|GUCA1A_ENST00000053469.4_Nonsense_Mutation_p.E38*			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	38	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.E38*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CACCCTCTATGAGTTCCGCCA	0.557																																						uc003orx.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(112-114)GAG>TAG		guanylate cyclase activator 1A (retina)							133.0	119.0	124.0					6																	42141463		2203	4300	6503	SO:0001587	stop_gained	2978				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr6:42141463G>T		CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"""EF-hand domain containing"""	4678	protein-coding gene	gene with protein product	"""cone dystrophy 3"""	600364	"""chromosome 6 open reading frame 131"""	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.112G>T	6.37:g.42141463G>T	ENSP00000377784:p.Glu38*					GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Nonsense_Mutation_p.E38*	p.E38*	NM_000409	NP_000400	P43080	GUC1A_HUMAN	STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	757	+	Colorectal(47;0.196)		38			EF-hand 1.		B3KWT4|Q7Z6T1|Q9NU14	Nonsense_Mutation	SNP	ENST00000394237.1	37	c.112G>T	CCDS4864.1	.	.	.	.	.	.	.	.	.	.	G	43	9.934575	0.99299	.	.	ENSG00000048545	ENST00000418175;ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4537	0.87600	0.0:0.0:1.0:0.0	.	.	.	.	X	38;38;34;38;38;38	.	ENSP00000053469:E38X	E	+	1	0	GUCA1A	42249441	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.716000	0.92895	0.655000	0.94253	GAG		PASS	0.557	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1			36	43	36	43	---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44271932	44271932	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:44271932C>A	ENST00000244571.4	-	14	1995	c.1993G>T	c.(1993-1995)Gat>Tat	p.D665Y	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.D665Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGGTCACATCCAAGCGCAGC	0.602											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010jza.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1993-1995)GAT>TAT		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						50.0	47.0	48.0					6																	44271932		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44271932C>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1993G>T	6.37:g.44271932C>A	ENSP00000244571:p.Asp665Tyr		OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.D665Y	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		14	1996	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		665						Missense_Mutation	SNP	ENST00000244571.4	37	c.1993G>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414560	0.83449	.	.	ENSG00000124608	ENST00000244571	T	0.80824	-1.42	5.71	5.71	0.89125	Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.158361	0.56097	D	0.000037	D	0.93609	0.7959	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95257	0.8365	10	0.87932	D	0	-21.5132	19.8602	0.96781	0.0:1.0:0.0:0.0	.	665	Q5JTZ9	SYAM_HUMAN	Y	665	ENSP00000244571:D665Y	ENSP00000244571:D665Y	D	-	1	0	AARS2	44379910	1.000000	0.71417	0.508000	0.27688	0.938000	0.57974	7.616000	0.83018	2.682000	0.91365	0.609000	0.83330	GAT		PASS	0.602	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		17	21	17	21	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46658453	46658453	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:46658453A>G	ENST00000316081.6	+	1	2588	c.2588A>G	c.(2587-2589)aAg>aGg	p.K863R	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.K863R|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	863	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.K863R(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATCTGTGAAGAATATTTAT	0.373																																						uc003oyj.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(2587-2589)AAG>AGG		tudor domain containing 6							79.0	85.0	83.0					6																	46658453		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658453A>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2588A>G	6.37:g.46658453A>G	ENSP00000346065:p.Lys863Arg					TDRD6_uc010jze.2_Missense_Mutation_p.K857R	p.K863R	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	2588	+			863			Tudor 4.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.2588A>G	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.053845	0.36277	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.10099	2.91;2.91	5.75	3.33	0.38152	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.553544	0.22100	N	0.064628	T	0.04003	0.0112	M	0.67569	2.06	0.09310	N	1	B;B	0.16166	0.013;0.016	B;B	0.28553	0.055;0.091	T	0.44590	-0.9318	10	0.18710	T	0.47	-5.0092	6.409	0.21680	0.6194:0.2476:0.133:0.0	.	863;863	F5H5M3;O60522	.;TDRD6_HUMAN	R	863	ENSP00000443299:K863R;ENSP00000346065:K863R	ENSP00000346065:K863R	K	+	2	0	TDRD6	46766412	0.979000	0.34478	0.409000	0.26459	0.959000	0.62525	1.775000	0.38584	0.429000	0.26202	0.533000	0.62120	AAG		PASS	0.373	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		27	51	27	51	---	---	---	---
CRISP2	7180	broad.mit.edu	37	6	49660607	49660607	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:49660607C>A	ENST00000339139.4	-	10	847	c.611G>T	c.(610-612)aGt>aTt	p.S204I		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	204					single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)		p.S204I(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ATACTGGCAACTATTGGCTGT	0.413																																						uc003ozq.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(610-612)AGT>ATT		cysteine-rich secretory protein 2 precursor							104.0	95.0	98.0					6																	49660607		2202	4300	6502	SO:0001583	missense	7180					extracellular space		g.chr6:49660607C>A	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.611G>T	6.37:g.49660607C>A	ENSP00000339155:p.Ser204Ile					CRISP2_uc003ozl.2_Missense_Mutation_p.S204I|CRISP2_uc003ozn.2_Missense_Mutation_p.S204I|CRISP2_uc003ozr.2_Missense_Mutation_p.S204I|CRISP2_uc003ozo.2_Missense_Mutation_p.S204I|CRISP2_uc003ozm.2_Missense_Mutation_p.S239I|CRISP2_uc003ozp.2_Missense_Mutation_p.S204I	p.S204I	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		10	867	-	Lung NSC(77;0.0161)		204					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.611G>T	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436047	0.62955	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.08720	3.06	5.14	3.19	0.36642	Cysteine-rich secretory protein (1);	0.156902	0.56097	D	0.000023	T	0.12092	0.0294	M	0.77616	2.38	0.29790	N	0.833306	D;P	0.57257	0.979;0.828	P;P	0.61533	0.89;0.61	T	0.01879	-1.1255	10	0.62326	D	0.03	.	7.397	0.26942	0.0:0.4536:0.4478:0.0986	.	239;204	Q7Z7B2;P16562	.;CRIS2_HUMAN	I	204;239	ENSP00000339155:S204I	ENSP00000211238:S239I	S	-	2	0	CRISP2	49768566	0.999000	0.42202	0.931000	0.37212	0.958000	0.62258	1.413000	0.34725	1.286000	0.44565	0.650000	0.86243	AGT		PASS	0.413	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		19	28	19	28	---	---	---	---
KLHL31	401265	broad.mit.edu	37	6	53517037	53517037	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:53517037A>T	ENST00000407079.1	-	2	1263	c.1264T>A	c.(1264-1266)Tac>Aac	p.Y422N	KLHL31_ENST00000370905.3_Missense_Mutation_p.Y422N			Q9H511	KLH31_HUMAN	kelch-like family member 31	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.Y422N(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CCCGCGGCGTACACGAGCCCG	0.632																																						uc003pcb.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1264-1266)TAC>AAC		kelch repeat and BTB (POZ) domain containing 1							57.0	59.0	59.0					6																	53517037		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53517037A>T		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1264T>A	6.37:g.53517037A>T	ENSP00000384644:p.Tyr422Asn					uc003pcc.1_Silent_p.V143V	p.Y422N	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN			3	1405	-	Lung NSC(77;0.0158)		422			Kelch 3.		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.1264T>A	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590434	0.86851	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	D;D	0.91631	-2.88;-2.88	5.69	5.69	0.88448	Galactose oxidase, beta-propeller (1);	0.094899	0.85682	D	0.000000	D	0.96999	0.9020	H	0.96048	3.76	0.52099	D	0.999948	D	0.61080	0.989	D	0.65874	0.939	D	0.98208	1.0471	10	0.87932	D	0	.	15.9604	0.79926	1.0:0.0:0.0:0.0	.	422	Q9H511	KLH31_HUMAN	N	422	ENSP00000359942:Y422N;ENSP00000384644:Y422N	ENSP00000359942:Y422N	Y	-	1	0	KLHL31	53624996	1.000000	0.71417	0.956000	0.39512	0.954000	0.61252	9.317000	0.96327	2.168000	0.68352	0.528000	0.53228	TAC		PASS	0.632	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		29	40	29	40	---	---	---	---
TINAG	27283	broad.mit.edu	37	6	54214629	54214629	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:54214629C>G	ENST00000259782.4	+	7	1111	c.1015C>G	c.(1015-1017)Ccc>Gcc	p.P339A		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	339					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P339A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAAGCCATGTCCCAACAACGT	0.443																																						uc003pcj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1015-1017)CCC>GCC		tubulointerstitial nephritis antigen							145.0	134.0	138.0					6																	54214629		2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54214629C>G	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1015C>G	6.37:g.54214629C>G	ENSP00000259782:p.Pro339Ala					TINAG_uc010jzt.2_RNA	p.P339A	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		7	1161	+	Lung NSC(77;0.0518)		339					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.1015C>G	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483859	0.84854	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.84223	-1.82	5.87	5.87	0.94306	Peptidase C1A, papain C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.89629	0.6770	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89895	0.4040	10	0.72032	D	0.01	.	17.7085	0.88315	0.0:1.0:0.0:0.0	.	339	Q9UJW2	TINAG_HUMAN	A	198;339;18	ENSP00000259782:P339A	ENSP00000259782:P339A	P	+	1	0	TINAG	54322588	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.414000	0.73318	2.785000	0.95823	0.591000	0.81541	CCC		PASS	0.443	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		32	26	32	26	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69949024	69949024	+	Missense_Mutation	SNP	G	G	C	rs371369769		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:69949024G>C	ENST00000370598.1	+	20	3541	c.2720G>C	c.(2719-2721)cGc>cCc	p.R907P	BAI3_ENST00000238918.8_Missense_Mutation_p.R113P	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	907					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R907P(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGGTACATACGCTCTGAGAGA	0.368																																						uc003pev.3																			1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(2719-2721)CGC>CCC		brain-specific angiogenesis inhibitor 3							181.0	176.0	177.0					6																	69949024		2203	4298	6501	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69949024G>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2720G>C	6.37:g.69949024G>C	ENSP00000359630:p.Arg907Pro					BAI3_uc010kak.2_Missense_Mutation_p.R907P|BAI3_uc011dxx.1_Missense_Mutation_p.R113P|BAI3_uc003pex.1_Missense_Mutation_p.R37P	p.R907P	NM_001704	NP_001695	O60242	BAI3_HUMAN			20	3168	+		all_lung(197;0.212)	907			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2720G>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075531	0.55646	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.52295	0.67;0.67	5.26	5.26	0.73747	GPCR, family 2-like (1);	0.056171	0.64402	D	0.000002	T	0.65004	0.2650	M	0.89353	3.025	0.80722	D	1	P;D;D	0.64830	0.895;0.966;0.994	P;P;D	0.66351	0.743;0.74;0.943	T	0.72408	-0.4303	10	0.87932	D	0	.	12.2519	0.54603	0.0779:0.0:0.9221:0.0	.	113;907;907	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	P	907;113	ENSP00000359630:R907P;ENSP00000238918:R113P	ENSP00000238918:R113P	R	+	2	0	BAI3	70005745	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	6.872000	0.75536	2.450000	0.82876	0.655000	0.94253	CGC		PASS	0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			55	60	55	60	---	---	---	---
SEC63	11231	broad.mit.edu	37	6	108227913	108227913	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:108227913G>C	ENST00000369002.4	-	9	981	c.802C>G	c.(802-804)Cca>Gca	p.P268A		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	268	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.P268A(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTATCCGTTGGTCTGCTTGTG	0.343																																						uc003psc.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(802-804)CCA>GCA		SEC63-like protein							137.0	138.0	138.0					6																	108227913		2203	4300	6503	SO:0001583	missense	11231				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	g.chr6:108227913G>C	BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.802C>G	6.37:g.108227913G>C	ENSP00000357998:p.Pro268Ala					SEC63_uc003psb.3_Missense_Mutation_p.P128A	p.P268A	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)	9	1071	-		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)	268			SEC63 1.|Cytoplasmic (Potential).		O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	c.802C>G	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927788	0.73327	.	.	ENSG00000025796	ENST00000369002;ENST00000423697	T	0.60548	0.18	5.04	5.04	0.67666	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.67192	0.2867	M	0.76170	2.325	0.80722	D	1	P;D	0.76494	0.952;0.999	P;D	0.87578	0.625;0.998	T	0.64330	-0.6433	10	0.12766	T	0.61	-10.7271	18.371	0.90407	0.0:0.0:1.0:0.0	.	268;268	Q9UGP8;B3KQF0	SEC63_HUMAN;.	A	268;128	ENSP00000357998:P268A	ENSP00000357998:P268A	P	-	1	0	SEC63	108334606	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.271000	0.78506	2.331000	0.79229	0.467000	0.42956	CCA		PASS	0.343	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214		39	31	39	31	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111694287	111694287	+	Silent	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:111694287T>A	ENST00000358835.3	-	14	5725	c.5271A>T	c.(5269-5271)tcA>tcT	p.S1757S	REV3L_ENST00000435970.1_Silent_p.S1679S|REV3L_ENST00000368805.1_Silent_p.S1757S|REV3L_ENST00000368802.3_Silent_p.S1757S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1757					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.S1757S(1)|p.S1679S(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATCCATTATTGAGTTAGACC	0.393								DNA polymerases (catalytic subunits)																														uc003puy.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)	6						c.(5269-5271)TCA>TCT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							219.0	208.0	212.0					6																	111694287		2203	4300	6503	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111694287T>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5271A>T	6.37:g.111694287T>A						REV3L_uc003pux.3_Silent_p.S1679S|REV3L_uc003puz.3_Silent_p.S1679S	p.S1757S	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	5594	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1757					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.5271A>T	CCDS5091.2																																																																																				PASS	0.393	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		6	107	6	107	---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128400010	128400010	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:128400010T>A	ENST00000368215.3	-	11	1830	c.1831A>T	c.(1831-1833)Acc>Tcc	p.T611S	PTPRK_ENST00000368213.5_Missense_Mutation_p.T611S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000532331.1_Missense_Mutation_p.T611S|PTPRK_ENST00000368227.3_Missense_Mutation_p.T611S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.T611S|PTPRK_ENST00000368210.3_Missense_Mutation_p.T611S|PTPRK_ENST00000368226.4_Missense_Mutation_p.T611S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	611	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T611S(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GTTATTGTGGTGGCAGTTTCA	0.398																																						uc003qbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(1831-1833)ACC>TCC		protein tyrosine phosphatase, receptor type, K							202.0	184.0	190.0					6																	128400010		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128400010T>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1831A>T	6.37:g.128400010T>A	ENSP00000357198:p.Thr611Ser					PTPRK_uc003qbj.2_Missense_Mutation_p.T611S|PTPRK_uc010kfc.2_Missense_Mutation_p.T611S|PTPRK_uc011ebu.1_Missense_Mutation_p.T611S|PTPRK_uc003qbl.1_Missense_Mutation_p.T481S|PTPRK_uc011ebv.1_Missense_Mutation_p.T611S	p.T611S	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	11	2198	-			611			Extracellular (Potential).|Fibronectin type-III 4.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.1831A>T		.	.	.	.	.	.	.	.	.	.	T	13.08	2.130359	0.37630	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.08720	3.07;3.06;3.06;3.07;3.06;3.08;3.06	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.02380	0.0073	N	0.17631	0.505	0.54753	D	0.999987	B;B;B;B;B;B	0.27416	0.096;0.02;0.034;0.178;0.009;0.015	B;B;B;B;B;B	0.29862	0.023;0.019;0.042;0.108;0.007;0.015	T	0.31223	-0.9951	10	0.07813	T	0.8	.	16.3469	0.83138	0.0:0.0:0.0:1.0	.	611;611;611;468;611;611	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	S	611;611;611;611;611;611;611;468	ENSP00000357209:T611S;ENSP00000357210:T611S;ENSP00000432973:T611S;ENSP00000357196:T611S;ENSP00000357193:T611S;ENSP00000357198:T611S;ENSP00000357190:T611S	ENSP00000357190:T611S	T	-	1	0	PTPRK	128441703	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.841000	0.86834	2.263000	0.75096	0.528000	0.53228	ACC		PASS	0.398	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			7	40	7	40	---	---	---	---
ARHGAP18	93663	broad.mit.edu	37	6	129932709	129932709	+	Nonsense_Mutation	SNP	A	A	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:129932709A>C	ENST00000368149.2	-	8	1179	c.1091T>G	c.(1090-1092)tTa>tGa	p.L364*		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18									p.L364*(1)		NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AGGGATCCGTAAGAGGCCTTC	0.358																																						uc003qbr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1090-1092)TTA>TGA		Rho GTPase activating protein 18							85.0	79.0	81.0					6																	129932709		2203	4300	6503	SO:0001587	stop_gained	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129932709A>C	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1091T>G	6.37:g.129932709A>C	ENSP00000357131:p.Leu364*					ARHGAP18_uc011ebw.1_Nonsense_Mutation_p.L364*	p.L364*	NM_033515	NP_277050	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	8	1180	-			364			Rho-GAP.			Nonsense_Mutation	SNP	ENST00000368149.2	37	c.1091T>G	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	A	36	5.749761	0.96890	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2912	0.82752	1.0:0.0:0.0:0.0	.	.	.	.	X	319;364	.	.	L	-	2	0	ARHGAP18	129974402	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	9.015000	0.93640	2.251000	0.74343	0.482000	0.46254	TTA		PASS	0.358	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		4	18	4	18	---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	132014758	132014758	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:132014758C>T	ENST00000414305.1	+	16	1734	c.1406C>T	c.(1405-1407)gCt>gTt	p.A469V	ENPP3_ENST00000358229.5_Missense_Mutation_p.A469V|ENPP3_ENST00000357639.3_Missense_Mutation_p.A469V			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	469	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.A469V(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CAGTGGCTGGCTGTTAGGTTC	0.398																																						uc003qcu.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1405-1407)GCT>GTT		ectonucleotide pyrophosphatase/phosphodiesterase							208.0	181.0	190.0					6																	132014758		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132014758C>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1406C>T	6.37:g.132014758C>T	ENSP00000406261:p.Ala469Val					ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.A469V	p.A469V	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	16	1753	+	Breast(56;0.0753)		469			Extracellular (Potential).|Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.1406C>T	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501272	0.26861	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.70282	-0.47;-0.47;-0.47	5.8	4.92	0.64577	Alkaline-phosphatase-like, core domain (1);	0.073507	0.56097	D	0.000028	T	0.47875	0.1469	N	0.16098	0.37	0.80722	D	1	B	0.29671	0.254	P	0.45506	0.483	T	0.52109	-0.8619	10	0.08179	T	0.78	-6.8235	15.9581	0.79902	0.0:0.8542:0.1458:0.0	.	469	O14638	ENPP3_HUMAN	V	469	ENSP00000406261:A469V;ENSP00000350265:A469V;ENSP00000350964:A469V	ENSP00000350265:A469V	A	+	2	0	ENPP3	132056451	1.000000	0.71417	0.947000	0.38551	0.137000	0.21094	1.875000	0.39578	1.393000	0.46605	0.563000	0.77884	GCT		PASS	0.398	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			33	32	33	32	---	---	---	---
TXLNB	167838	broad.mit.edu	37	6	139610030	139610030	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:139610030C>A	ENST00000358430.3	-	2	239	c.7G>T	c.(7-9)Gct>Tct	p.A3S	RP11-445F6.2_ENST00000440518.1_RNA|RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	3						cytoplasm (GO:0005737)		p.A3S(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GAGTGATTAGCCTCCATCTTG	0.453																																						uc011eds.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(7-9)GCT>TCT		taxilin beta							96.0	80.0	85.0					6																	139610030		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139610030C>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.7G>T	6.37:g.139610030C>A	ENSP00000351206:p.Ala3Ser						p.A3S	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	2	172	-			3					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.7G>T	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.152299	0.00325	.	.	ENSG00000164440	ENST00000358430	T	0.12879	2.64	5.53	0.422	0.16457	.	0.977361	0.08402	N	0.951346	T	0.00998	0.0033	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48091	-0.9065	9	.	.	.	1.3644	5.3659	0.16113	0.0:0.3151:0.1431:0.5418	.	3	Q8N3L3	TXLNB_HUMAN	S	3	ENSP00000351206:A3S	.	A	-	1	0	TXLNB	139651723	0.118000	0.22208	0.080000	0.20451	0.007000	0.05969	0.308000	0.19314	-0.147000	0.11254	-0.312000	0.09012	GCT		PASS	0.453	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		17	10	17	10	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146248399	146248399	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:146248399C>T	ENST00000367505.2	-	15	3391	c.3127G>A	c.(3127-3129)Gca>Aca	p.A1043T	SHPRH_ENST00000438092.2_Missense_Mutation_p.A1052T|SHPRH_ENST00000367503.3_Missense_Mutation_p.A1052T|SHPRH_ENST00000275233.7_Missense_Mutation_p.A1043T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1043					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.A1052T(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)		AATTCTGCTGCCAAGGCATAC	0.353																																						uc003qlf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3127-3129)GCA>ACA		SNF2 histone linker PHD RING helicase isoform a							116.0	99.0	104.0					6																	146248399		1854	4095	5949	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146248399C>T	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.3127G>A	6.37:g.146248399C>T	ENSP00000356475:p.Ala1043Thr					SHPRH_uc003qld.2_Missense_Mutation_p.A1052T|SHPRH_uc003qle.2_Missense_Mutation_p.A1052T|SHPRH_uc003qlg.1_Missense_Mutation_p.A599T|SHPRH_uc003qlh.2_5'UTR|SHPRH_uc003qli.1_5'UTR	p.A1043T	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	15	3526	-		Ovarian(120;0.0365)	1043					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.3127G>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	35	5.471099	0.96274	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	D;T;T;D	0.82433	-1.61;-1.41;-1.42;-1.61	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000001	D	0.91730	0.7385	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92102	0.5689	10	0.87932	D	0	-22.1963	19.8769	0.96880	0.0:1.0:0.0:0.0	.	1043;1052	Q149N8;Q149N8-4	SHPRH_HUMAN;.	T	1043;1052;1052;1043	ENSP00000356475:A1043T;ENSP00000356473:A1052T;ENSP00000412797:A1052T;ENSP00000275233:A1043T	ENSP00000275233:A1043T	A	-	1	0	SHPRH	146290092	1.000000	0.71417	0.989000	0.46669	0.940000	0.58332	7.464000	0.80887	2.767000	0.95098	0.557000	0.71058	GCA		PASS	0.353	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		17	10	17	10	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152720802	152720802	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:152720802A>G	ENST00000367255.5	-	48	7787	c.7186T>C	c.(7186-7188)Tgc>Cgc	p.C2396R	SYNE1_ENST00000265368.4_Missense_Mutation_p.C2396R|SYNE1_ENST00000448038.1_Missense_Mutation_p.C2403R|SYNE1_ENST00000423061.1_Missense_Mutation_p.C2403R|SYNE1_ENST00000341594.5_Missense_Mutation_p.C2433R|RP3-398G3.5_ENST00000458194.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2396					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.C2396R(2)|p.C2403R(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTTTGGAGCACAACTGGCTC	0.502										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(7186-7188)TGC>CGC		spectrin repeat containing, nuclear envelope 1							174.0	180.0	178.0					6																	152720802		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152720802A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7186T>C	6.37:g.152720802A>G	ENSP00000356224:p.Cys2396Arg	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.C2403R|SYNE1_uc003qou.3_Missense_Mutation_p.C2396R|SYNE1_uc010kjb.1_Missense_Mutation_p.C2379R	p.C2396R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	48	7788	-		Ovarian(120;0.0955)	2396			Spectrin 3.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.7186T>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	11.55	1.670703	0.29693	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.84	4.73	0.59995	.	0.374451	0.26187	N	0.025830	T	0.21347	0.0514	L	0.50333	1.59	0.80722	D	1	D;B;B;B	0.54397	0.966;0.005;0.005;0.028	P;B;B;B	0.45037	0.467;0.006;0.006;0.019	T	0.02333	-1.1175	10	0.33141	T	0.24	.	9.4742	0.38862	0.748:0.1469:0.0:0.1051	.	2379;2396;2396;2403	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	2396;2403;2396;2403;2433	ENSP00000356224:C2396R;ENSP00000396024:C2403R;ENSP00000265368:C2396R;ENSP00000390975:C2403R;ENSP00000341887:C2433R	ENSP00000265368:C2396R	C	-	1	0	SYNE1	152762495	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	4.527000	0.60573	2.241000	0.73720	0.529000	0.55759	TGC		PASS	0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		11	128	11	128	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152720890	152720890	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:152720890C>A	ENST00000367255.5	-	48	7699	c.7098G>T	c.(7096-7098)ttG>ttT	p.L2366F	SYNE1_ENST00000265368.4_Missense_Mutation_p.L2366F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L2373F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L2373F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L2403F|RP3-398G3.5_ENST00000458194.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2366					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L2366F(2)|p.L2373F(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTGCGGCACAAGCTATTGA	0.423										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(7096-7098)TTG>TTT		spectrin repeat containing, nuclear envelope 1							160.0	151.0	154.0					6																	152720890		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152720890C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7098G>T	6.37:g.152720890C>A	ENSP00000356224:p.Leu2366Phe	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.L2373F|SYNE1_uc003qou.3_Missense_Mutation_p.L2366F|SYNE1_uc010kjb.1_Missense_Mutation_p.L2349F	p.L2366F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	48	7700	-		Ovarian(120;0.0955)	2366			Spectrin 3.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.7098G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452290	0.43531	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	6.06	2.76	0.32466	.	0.000000	0.47852	D	0.000219	T	0.51517	0.1679	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	T	0.51826	-0.8656	10	0.40728	T	0.16	.	8.518	0.33257	0.0:0.6089:0.1709:0.2202	.	2349;2366;2366;2373	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	F	2366;2373;2366;2373;2403	ENSP00000356224:L2366F;ENSP00000396024:L2373F;ENSP00000265368:L2366F;ENSP00000390975:L2373F;ENSP00000341887:L2403F	ENSP00000265368:L2366F	L	-	3	2	SYNE1	152762583	0.766000	0.28496	0.989000	0.46669	0.900000	0.52787	-0.104000	0.10923	0.824000	0.34613	0.655000	0.94253	TTG		PASS	0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		52	47	52	47	---	---	---	---
LPA	4018	broad.mit.edu	37	6	160978499	160978499	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr6:160978499C>T	ENST00000316300.5	-	29	4780	c.4736G>A	c.(4735-4737)tGc>tAc	p.C1579Y	LPA_ENST00000447678.1_Missense_Mutation_p.C1579Y			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4087	Kringle 14. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.C1579Y(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTTTCTGAGCATTGTGTCAG	0.493																																						uc003qtl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(4735-4737)TGC>TAC		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						133.0	128.0	129.0					6																	160978499		2018	4219	6237	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160978499C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4736G>A	6.37:g.160978499C>T	ENSP00000321334:p.Cys1579Tyr						p.C1579Y	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	30	4856	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4087			Kringle 36.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4736G>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	15.67	2.901379	0.52227	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.82984	-1.67;-1.67	2.38	2.38	0.29361	Kringle (4);Kringle-like fold (1);	.	.	.	.	D	0.92795	0.7709	H	0.99675	4.695	0.26722	N	0.970764	D	0.56521	0.976	D	0.71414	0.973	D	0.84274	0.0490	9	0.87932	D	0	.	8.2265	0.31572	0.0:1.0:0.0:0.0	.	4087	P08519	APOA_HUMAN	Y	1579	ENSP00000321334:C1579Y;ENSP00000395608:C1579Y	ENSP00000321334:C1579Y	C	-	2	0	LPA	160898489	0.996000	0.38824	0.025000	0.17156	0.514000	0.34195	5.498000	0.66931	1.314000	0.45095	0.430000	0.28490	TGC		PASS	0.493	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		7	53	7	53	---	---	---	---
CYP2W1	54905	broad.mit.edu	37	7	1026301	1026301	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:1026301G>A	ENST00000308919.7	+	5	700	c.687G>A	c.(685-687)ctG>ctA	p.L229L	CYP2W1_ENST00000340150.6_Silent_p.L173L	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	229					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.L229L(1)		breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGCTCCAGCTGCACCGGCCCG	0.701																																						uc003sjq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(685-687)CTG>CTA		cytochrome P450, family 2, subfamily W,							38.0	44.0	42.0					7																	1026301		2202	4299	6501	SO:0001819	synonymous_variant	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1026301G>A	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.687G>A	7.37:g.1026301G>A						CYP2W1_uc003sjr.1_Silent_p.L229L	p.L229L	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	5	700	+		Ovarian(82;0.0112)	229						Silent	SNP	ENST00000308919.7	37	c.687G>A	CCDS5319.2																																																																																				PASS	0.701	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		21	9	21	9	---	---	---	---
HOXA5	3202	broad.mit.edu	37	7	27182915	27182915	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:27182915G>A	ENST00000222726.3	-	1	372	c.312C>T	c.(310-312)tcC>tcT	p.S104S	HOXA-AS3_ENST00000521197.1_RNA|HOXA6_ENST00000521478.1_5'Flank|HOXA-AS3_ENST00000518848.1_RNA|HOXA5_ENST00000520854.1_5'Flank|RP1-170O19.22_ENST00000467897.2_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	104					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S104S(1)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GGGCCACGGCGGAGCAGGGCA	0.736																																					Colon(119;75 2200 7557 42868)	uc003syn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(310-312)TCC>TCT		homeobox A5							11.0	13.0	12.0					7																	27182915		2166	4202	6368	SO:0001819	synonymous_variant	3202				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27182915G>A		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.312C>T	7.37:g.27182915G>A							p.S104S	NM_019102	NP_061975	P20719	HXA5_HUMAN			1	373	-			104					A4D179|O43367|Q96CY6	Silent	SNP	ENST00000222726.3	37	c.312C>T	CCDS5406.1																																																																																				PASS	0.736	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1			6	7	6	7	---	---	---	---
ZNF117	51351	broad.mit.edu	37	7	64438773	64438773	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:64438773T>A	ENST00000282869.6	-	4	2460	c.1176A>T	c.(1174-1176)agA>agT	p.R392S		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	392					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.R392S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGCCAGATTCTCTACATTTGT	0.393																																						uc003ttr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1174-1176)AGA>AGT		zinc finger protein 117							144.0	149.0	148.0					7																	64438773		2058	4228	6286	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64438773T>A	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1176A>T	7.37:g.64438773T>A	ENSP00000282869:p.Arg392Ser						p.R392S	NM_015852	NP_056936	Q03924	ZN117_HUMAN			4	2461	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	392			C2H2-type 11; degenerate.		Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.1176A>T	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	5.622	0.299448	0.10622	.	.	ENSG00000152926	ENST00000282869	T	0.14516	2.5	1.11	-2.23	0.06930	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03827	0.0108	N	0.01431	-0.87	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.35674	-0.9779	9	0.56958	D	0.05	.	2.1003	0.03678	0.5003:0.2143:0.0:0.2854	.	392	Q03924	ZN117_HUMAN	S	392	ENSP00000282869:R392S	ENSP00000282869:R392S	R	-	3	2	ZNF117	64076208	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-8.116000	0.00024	-0.664000	0.05324	-0.991000	0.02546	AGA		PASS	0.393	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		5	134	5	134	---	---	---	---
SEMA3E	9723	broad.mit.edu	37	7	83034833	83034833	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:83034833C>A	ENST00000307792.3	-	9	1398	c.931G>T	c.(931-933)Gac>Tac	p.D311Y	SEMA3E_ENST00000427262.1_Missense_Mutation_p.D251Y	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	311	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.D311Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAAAAAACGTCCTCTGAAAAA	0.313																																						uc003uhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(931-933)GAC>TAC		semaphorin 3E precursor							90.0	92.0	91.0					7																	83034833		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83034833C>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.931G>T	7.37:g.83034833C>A	ENSP00000303212:p.Asp311Tyr						p.D311Y	NM_012431	NP_036563	O15041	SEM3E_HUMAN			9	1397	-		Medulloblastoma(109;0.109)	311			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.931G>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724063	0.89298	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.27720	1.65;1.65	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76214	-0.3041	10	0.87932	D	0	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	311	O15041	SEM3E_HUMAN	Y	311;251;311	ENSP00000303212:D311Y;ENSP00000405052:D251Y	ENSP00000303212:D311Y	D	-	1	0	SEMA3E	82872769	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.651000	0.83577	2.802000	0.96397	0.655000	0.94253	GAC		PASS	0.313	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		11	22	11	22	---	---	---	---
ZSCAN25	221785	broad.mit.edu	37	7	99227148	99227148	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:99227148T>G	ENST00000394152.2	+	8	1467	c.1140T>G	c.(1138-1140)tgT>tgG	p.C380W	ZSCAN25_ENST00000262941.6_Missense_Mutation_p.C308W|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.C380W|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	380					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.C380W(1)									GTGTGGAGTGTGGGAAGGGCT	0.552																																						uc003url.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1138-1140)TGT>TGG		zinc finger and SCAN domain containing 25							80.0	76.0	77.0					7																	99227148		2203	4300	6503	SO:0001583	missense	221785				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99227148T>G	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.1140T>G	7.37:g.99227148T>G	ENSP00000377708:p.Cys380Trp					ZNF498_uc003urm.1_Missense_Mutation_p.C216W|ZNF498_uc010lge.1_Missense_Mutation_p.C216W|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.C308W|ZNF498_uc003uro.1_Missense_Mutation_p.C164W	p.C380W	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN			8	1467	+	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		380			C2H2-type 2.		A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.1140T>G	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	T	15.87	2.960765	0.53400	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.60040	0.22;0.22;0.22	3.93	1.44	0.22558	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000143	D	0.82774	0.5110	H	0.99143	4.445	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.81656	-0.0834	10	0.87932	D	0	-9.3052	7.3121	0.26481	0.0:0.1971:0.0:0.8029	.	308;380	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	W	380;380;308	ENSP00000377708:C380W;ENSP00000334800:C380W;ENSP00000262941:C308W	ENSP00000262941:C308W	C	+	3	2	ZNF498	99065084	0.215000	0.23574	1.000000	0.80357	0.987000	0.75469	-0.539000	0.06113	0.296000	0.22592	0.459000	0.35465	TGT		PASS	0.552	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		28	27	28	27	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103417016	103417016	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:103417016A>T	ENST00000428762.1	-	4	691	c.532T>A	c.(532-534)Tgt>Agt	p.C178S	RELN_ENST00000343529.5_Missense_Mutation_p.C178S|RELN_ENST00000424685.2_Missense_Mutation_p.C178S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	178	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				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.C178S(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)		CCTTGTTCACACAACTGCTGG	0.393																																					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.(532-534)TGT>AGT		reelin isoform a							134.0	124.0	127.0					7																	103417016		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.chr7:103417016A>T		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.532T>A	7.37:g.103417016A>T	ENSP00000392423:p.Cys178Ser					RELN_uc010liz.2_Missense_Mutation_p.C178S	p.C178S	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	4	692	-			178			Reelin.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.532T>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.749908	0.89753	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.60797	0.16;0.16;0.16	5.93	5.93	0.95920	Reeler domain (1);	0.000000	0.85682	D	0.000000	T	0.70107	0.3186	L	0.47716	1.5	0.80722	D	1	D;P	0.53462	0.96;0.932	D;D	0.69142	0.962;0.916	T	0.72174	-0.4370	10	0.72032	D	0.01	.	15.3697	0.74554	1.0:0.0:0.0:0.0	.	178;178	P78509-2;P78509	.;RELN_HUMAN	S	178	ENSP00000392423:C178S;ENSP00000345694:C178S;ENSP00000388446:C178S	ENSP00000345694:C178S	C	-	1	0	RELN	103204252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.270000	0.75569	0.482000	0.46254	TGT		PASS	0.393	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		43	49	43	49	---	---	---	---
CDHR3	222256	broad.mit.edu	37	7	105621509	105621509	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:105621509C>A	ENST00000317716.9	+	3	425	c.345C>A	c.(343-345)gaC>gaA	p.D115E	CDHR3_ENST00000343407.5_De_novo_Start_InFrame|CDHR3_ENST00000478080.1_Missense_Mutation_p.D27E|CDHR3_ENST00000542731.1_Missense_Mutation_p.D115E|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000541203.1_Missense_Mutation_p.D115E	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	115	Cadherin 1. {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.D115E(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GTGTCACAGACCTGCAAGTCC	0.463																																						uc003vdl.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(343-345)GAC>GAA		hypothetical protein LOC222256 precursor							94.0	87.0	89.0					7																	105621509		1992	4169	6161	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105621509C>A	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.345C>A	7.37:g.105621509C>A	ENSP00000325954:p.Asp115Glu					CDHR3_uc003vdk.2_5'UTR|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.D102E|CDHR3_uc011klt.1_Missense_Mutation_p.D27E	p.D115E	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			3	453	+			115			Cadherin 1.|Extracellular (Potential).		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.345C>A	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509516	0.64522	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080;ENST00000541203	T;T;T;T	0.55760	2.43;2.43;0.5;2.43	5.02	3.19	0.36642	Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.947;0.997	T	0.65368	-0.6185	10	0.02654	T	1	-24.285	8.3065	0.32045	0.0:0.7486:0.0:0.2514	.	102;115	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	E	115;115;27;115	ENSP00000439766:D115E;ENSP00000325954:D115E;ENSP00000417771:D27E;ENSP00000443733:D115E	ENSP00000325954:D115E	D	+	3	2	CDHR3	105408745	0.994000	0.37717	0.985000	0.45067	0.925000	0.55904	0.611000	0.24268	0.802000	0.34089	0.561000	0.74099	GAC		PASS	0.463	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		10	7	10	7	---	---	---	---
NAMPT	10135	broad.mit.edu	37	7	105893566	105893566	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:105893566G>C	ENST00000222553.3	-	10	1569	c.1262C>G	c.(1261-1263)cCc>cGc	p.P421R		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	421					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)	p.P421R(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CCTTTTGTTGGGATCAGCAAC	0.403																																						uc003vdq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1261-1263)CCC>CGC		nicotinamide phosphoribosyltransferase							75.0	75.0	75.0					7																	105893566		2203	4299	6502	SO:0001583	missense	10135				cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr7:105893566G>C	U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.1262C>G	7.37:g.105893566G>C	ENSP00000222553:p.Pro421Arg						p.P421R	NM_005746	NP_005737	P43490	NAMPT_HUMAN			10	1570	-			421					A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	ENST00000222553.3	37	c.1262C>G	CCDS5737.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197096	0.79015	.	.	ENSG00000105835	ENST00000222553	.	.	.	5.36	5.36	0.76844	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	L	0.52364	1.645	0.80722	D	1	P	0.47545	0.897	B	0.42030	0.373	T	0.51772	-0.8663	9	0.21540	T	0.41	-16.0636	19.4399	0.94815	0.0:0.0:1.0:0.0	.	421	P43490	NAMPT_HUMAN	R	421	.	ENSP00000222553:P421R	P	-	2	0	NAMPT	105680802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.902000	0.92568	2.672000	0.90937	0.655000	0.94253	CCC		PASS	0.403	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277146.1	NM_182790		14	65	14	65	---	---	---	---
CBLL1	79872	broad.mit.edu	37	7	107398612	107398612	+	Missense_Mutation	SNP	T	T	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:107398612T>G	ENST00000440859.3	+	6	932	c.465T>G	c.(463-465)atT>atG	p.I155M	CBLL1_ENST00000222597.2_Missense_Mutation_p.I154M|CBLL1_ENST00000415884.2_3'UTR	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	155	HYB domain. {ECO:0000250}.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I155M(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGCAGCGAATTGAGCAGTGTA	0.363																																						uc003veq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(463-465)ATT>ATG		Cas-Br-M (murine) ecotropic retroviral							98.0	88.0	91.0					7																	107398612		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107398612T>G	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.465T>G	7.37:g.107398612T>G	ENSP00000401277:p.Ile155Met					CBLL1_uc011kme.1_Missense_Mutation_p.I34M|CBLL1_uc011kmf.1_Missense_Mutation_p.I154M	p.I155M	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN			6	795	+			155					B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.465T>G	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.710890	0.48517	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.48836	0.83;0.8;0.84	5.44	3.11	0.35812	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.73217	2.22	0.58432	D	0.999992	D;D	0.76494	0.999;0.994	D;P	0.83275	0.996;0.878	T	0.65063	-0.6259	10	0.87932	D	0	-1.8827	9.2011	0.37258	0.0:0.2105:0.0:0.7895	.	154;155	B7ZM03;Q75N03	.;HAKAI_HUMAN	M	155;34;154;105;101	ENSP00000401277:I155M;ENSP00000222597:I154M;ENSP00000410615:I105M	ENSP00000222597:I154M	I	+	3	3	CBLL1	107185848	0.815000	0.29118	1.000000	0.80357	0.998000	0.95712	-0.102000	0.10956	0.914000	0.36822	0.533000	0.62120	ATT		PASS	0.363	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		47	41	47	41	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117450849	117450849	+	Silent	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:117450849C>T	ENST00000160373.3	-	3	475	c.384G>A	c.(382-384)caG>caA	p.Q128Q		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	128					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.Q128Q(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGCAGCCAGCTGTGCGGACA	0.493																																						uc003vjf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(382-384)CAG>CAA		cortactin binding protein 2							228.0	219.0	222.0					7																	117450849		2203	4300	6503	SO:0001819	synonymous_variant	83992							g.chr7:117450849C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.384G>A	7.37:g.117450849C>T							p.Q128Q	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	3	476	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		128			Potential.		O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	c.384G>A	CCDS5774.1																																																																																				PASS	0.493	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		12	170	12	170	---	---	---	---
RNF133	168433	broad.mit.edu	37	7	122338528	122338528	+	Missense_Mutation	SNP	C	C	T	rs267601255		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:122338528C>T	ENST00000340112.2	-	1	682	c.445G>A	c.(445-447)Gat>Aat	p.D149N	CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	149	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D149N(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						ACAACGACATCTTCAAATGCC	0.433																																					Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(445-447)GAT>AAT		ring finger protein 133							114.0	106.0	109.0					7																	122338528		2203	4299	6502	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338528C>T	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.445G>A	7.37:g.122338528C>T	ENSP00000344489:p.Asp149Asn					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.D149N	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	681	-			149			PA.		A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.445G>A	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600879	0.28534	.	.	ENSG00000188050	ENST00000340112	T	0.06528	3.29	5.62	4.74	0.60224	Protease-associated domain, PA (1);	0.784122	0.11665	N	0.541424	T	0.05364	0.0142	N	0.21240	0.645	0.49213	D	0.999768	B	0.16166	0.016	B	0.22753	0.041	T	0.27739	-1.0065	10	0.11182	T	0.66	.	11.2717	0.49142	0.0:0.8517:0.0:0.1483	.	149	Q8WVZ7	RN133_HUMAN	N	149	ENSP00000344489:D149N	ENSP00000344489:D149N	D	-	1	0	RNF133	122125764	0.000000	0.05858	0.804000	0.32291	0.848000	0.48234	0.843000	0.27640	1.367000	0.46095	0.561000	0.74099	GAT		PASS	0.433	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		41	34	41	34	---	---	---	---
TRBV30	28557	broad.mit.edu	37	7	142510506	142510506	+	RNA	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:142510506T>C	ENST00000417977.2	-	0	211									T cell receptor beta variable 30 (gene/pseudogene)																		GAGAGCGGGCTGCCCACAGGC	0.577																																						uc003wbp.2																			0											c.(100-102)AGC>GGC		SubName: Full=V_segment translation product; Flags: Fragment;							27.0	31.0	30.0					7																	142510506		1975	4145	6120			0							g.chr7:142510506T>C	L36092		7q34	2012-02-07	2008-09-12		ENSG00000237254	ENSG00000237254		"""T cell receptors / TRB locus"""	12214	other	T cell receptor gene			"""T cell receptor beta variable 30"""			8650574	Standard	NG_001333		Approved	TCRBV20S1A1N2, TCRBV30S1			OTTHUMG00000158907		7.37:g.142510506T>C							p.S34G							2	212	-									Missense_Mutation	SNP	ENST00000417977.2	37	c.100A>G																																																																																					PASS	0.577	TRBV30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352519.1	NG_001333		3	4	3	4	---	---	---	---
CASP2	835	broad.mit.edu	37	7	142989494	142989494	+	Silent	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:142989494C>T	ENST00000310447.5	+	3	568	c.327C>T	c.(325-327)acC>acT	p.T109T	CASP2_ENST00000493642.1_3'UTR|CASP2_ENST00000392925.2_Silent_p.T109T|RN7SL535P_ENST00000479087.2_RNA	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	109	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.T109T(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TGAGGGAGACCAAGCAAGGCC	0.522																																						uc003wco.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)	3						c.(325-327)ACC>ACT		caspase 2 isoform 1 preproprotein							150.0	142.0	144.0					7																	142989494		2203	4300	6503	SO:0001819	synonymous_variant	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:142989494C>T	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.327C>T	7.37:g.142989494C>T						CASP2_uc003wcp.2_Intron|CASP2_uc011kta.1_Intron|CASP2_uc003wcq.2_RNA	p.T109T	NM_032982	NP_116764	P42575	CASP2_HUMAN			3	474	+	Melanoma(164;0.059)		109			CARD.		A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Silent	SNP	ENST00000310447.5	37	c.327C>T	CCDS5879.1																																																																																				PASS	0.522	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		7	55	7	55	---	---	---	---
TAS2R60	338398	broad.mit.edu	37	7	143141054	143141054	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:143141054A>G	ENST00000332690.1	+	1	509	c.509A>G	c.(508-510)tAt>tGt	p.Y170C	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	170					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Y170C(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TATCAGAACTATTTAAGGAAC	0.433																																						uc011ktg.1																			1	Substitution - Missense(1)		lung(1)	skin(6)	6						c.(508-510)TAT>TGT		taste receptor, type 2, member 60							154.0	151.0	152.0					7																	143141054		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141054A>G	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.509A>G	7.37:g.143141054A>G	ENSP00000327724:p.Tyr170Cys					uc003wda.2_Intron	p.Y170C	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	509	+	Melanoma(164;0.172)		170			Extracellular (Potential).		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.509A>G	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.367356	0.41902	.	.	ENSG00000185899	ENST00000332690	T	0.38722	1.12	5.62	1.56	0.23342	.	1.019490	0.07909	U	0.973937	T	0.50222	0.1603	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	D	0.63488	0.915	T	0.32322	-0.9911	10	0.59425	D	0.04	.	2.1402	0.03772	0.5906:0.1449:0.0861:0.1784	.	170	P59551	T2R60_HUMAN	C	170	ENSP00000327724:Y170C	ENSP00000327724:Y170C	Y	+	2	0	TAS2R60	142851176	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	0.190000	0.17057	0.295000	0.22570	0.482000	0.46254	TAT		PASS	0.433	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			5	114	5	114	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151860104	151860104	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:151860104G>A	ENST00000262189.6	-	43	10776	c.10558C>T	c.(10558-10560)Cca>Tca	p.P3520S	KMT2C_ENST00000355193.2_Missense_Mutation_p.P3520S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3520					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P3520S(2)									GGGATTGATGGTGAATCAGGA	0.463																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(10558-10560)CCA>TCA		myeloid/lymphoid or mixed-lineage leukemia 3							121.0	126.0	124.0					7																	151860104		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151860104G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10558C>T	7.37:g.151860104G>A	ENSP00000262189:p.Pro3520Ser					MLL3_uc003wkz.2_Missense_Mutation_p.P2581S|MLL3_uc003wky.2_Missense_Mutation_p.P1029S	p.P3520S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	43	10777	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	3520					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.10558C>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.513|4.513	0.095183|0.095183	0.08681|0.08681	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.88046|.	-1.66;-1.66;-2.33|.	5.51|5.51	2.59|2.59	0.31030|0.31030	.|.	0.503499|.	0.16437|.	N|.	0.214447|.	T|T	0.25195|0.25195	0.0612|0.0612	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B|.	0.24258|.	0.004;0.023;0.1|.	B;B;B|.	0.26310|.	0.004;0.015;0.068|.	T|T	0.20207|0.20207	-1.0282|-1.0282	10|5	0.22706|.	T|.	0.39|.	.|.	6.0864|6.0864	0.19970|0.19970	0.3176:0.1282:0.5541:0.0|0.3176:0.1282:0.5541:0.0	.|.	3520;2581;3520|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	S|I	3520;3520;106|1025	ENSP00000262189:P3520S;ENSP00000347325:P3520S;ENSP00000410411:P106S|.	ENSP00000262189:P3520S|.	P|T	-|-	1|2	0|0	MLL3|MLL3	151491037|151491037	0.264000|0.264000	0.24093|0.24093	0.003000|0.003000	0.11579|0.11579	0.806000|0.806000	0.45545|0.45545	1.543000|1.543000	0.36147|0.36147	0.632000|0.632000	0.30432|0.30432	-0.345000|-0.345000	0.07892|0.07892	CCA|ACC		PASS	0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	89	6	89	---	---	---	---
CNPY1	285888	broad.mit.edu	37	7	155295777	155295777	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:155295777G>T	ENST00000321736.5	-	4	427	c.265C>A	c.(265-267)Cat>Aat	p.H89N	CNPY1_ENST00000406197.1_Missense_Mutation_p.H89N	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	89								p.H89N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AGCTCAGTATGATTAGCAGAA	0.383																																						uc003wmc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)CAT>AAT		canopy 1 homolog							69.0	65.0	66.0					7																	155295777		1879	4120	5999	SO:0001583	missense	285888							g.chr7:155295777G>T		CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"""canopy 1 homolog (zebrafish)"""			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.265C>A	7.37:g.155295777G>T	ENSP00000317439:p.His89Asn						p.H89N	NM_001103176	NP_001096646	Q3B7I2	CNPY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	4	410	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	89					A6NGX3	Missense_Mutation	SNP	ENST00000321736.5	37	c.265C>A	CCDS43684.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098414	0.37048	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	.	.	.	5.13	0.66	0.17868	.	7739.210000	0.00166	N	0.000000	T	0.41166	0.1147	.	.	.	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.40001	-0.9586	8	0.72032	D	0.01	2.6807	9.0854	0.36579	0.0:0.4883:0.3538:0.1579	.	89	Q3B7I2	CNPY1_HUMAN	N	89	.	ENSP00000317439:H89N	H	-	1	0	CNPY1	154988538	0.000000	0.05858	0.000000	0.03702	0.369000	0.29798	0.093000	0.15086	0.186000	0.20125	0.655000	0.94253	CAT		PASS	0.383	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322335.1	XM_001129537		9	4	9	4	---	---	---	---
NCAPG2	54892	broad.mit.edu	37	7	158445095	158445095	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:158445095C>A	ENST00000409423.1	-	24	2996	c.2824G>T	c.(2824-2826)Gat>Tat	p.D942Y	NCAPG2_ENST00000449727.2_Missense_Mutation_p.D942Y|NCAPG2_ENST00000409339.3_Missense_Mutation_p.D942Y|NCAPG2_ENST00000356309.3_Missense_Mutation_p.D942Y|NCAPG2_ENST00000275830.10_Missense_Mutation_p.D734Y|NCAPG2_ENST00000541468.1_Missense_Mutation_p.D443Y	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	942					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.D942Y(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TCATCTGAATCTGTTTTCTGA	0.363																																						uc003wnv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)	3						c.(2824-2826)GAT>TAT		leucine zipper protein 5							123.0	118.0	119.0					7																	158445095		1854	4108	5962	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158445095C>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2824G>T	7.37:g.158445095C>A	ENSP00000386569:p.Asp942Tyr					NCAPG2_uc010lqu.1_Missense_Mutation_p.D734Y|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Missense_Mutation_p.D942Y|NCAPG2_uc011kwe.1_Missense_Mutation_p.D942Y|NCAPG2_uc011kwc.1_Missense_Mutation_p.D443Y|NCAPG2_uc011kwd.1_Missense_Mutation_p.D385Y	p.D942Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	23	2969	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	942					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.2824G>T	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.41|12.41	1.930627|1.930627	0.34096|0.34096	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.34472|.	1.37;1.37;1.37;1.36;1.36;1.36|.	5.73|5.73	3.67|3.67	0.42095|0.42095	.|.	0.492509|.	0.24922|.	N|.	0.034535|.	T|T	0.43545|0.43545	0.1252|0.1252	L|L	0.27053|0.27053	0.805|0.805	0.35357|0.35357	D|D	0.787883|0.787883	B;P;B;B|.	0.34934|.	0.061;0.476;0.013;0.036|.	B;B;B;B|.	0.29353|.	0.032;0.101;0.005;0.014|.	T|T	0.46275|0.46275	-0.9203|-0.9203	10|5	0.52906|.	T|.	0.07|.	-28.6294|-28.6294	9.168|9.168	0.37063|0.37063	0.1492:0.7677:0.0:0.0831|0.1492:0.7677:0.0:0.0831	.|.	942;385;734;942|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	Y|H	443;942;942;734;942;385;942|743	ENSP00000442337:D443Y;ENSP00000348657:D942Y;ENSP00000386569:D942Y;ENSP00000275830:D734Y;ENSP00000387007:D942Y;ENSP00000388326:D942Y|.	ENSP00000275830:D734Y|.	D|Q	-|-	1|3	0|2	NCAPG2|NCAPG2	158137856|158137856	0.646000|0.646000	0.27295|0.27295	0.947000|0.947000	0.38551|0.38551	0.974000|0.974000	0.67602|0.67602	1.145000|1.145000	0.31577|0.31577	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GAT|CAG		PASS	0.363	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		5	68	5	68	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3200838	3200838	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:3200838T>A	ENST00000520002.1	-	24	4167	c.3612A>T	c.(3610-3612)caA>caT	p.Q1204H	CSMD1_ENST00000400186.3_Missense_Mutation_p.Q1204H|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q1203H|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q1204H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q1203H|CSMD1_ENST00000539096.1_Missense_Mutation_p.Q1203H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q1204H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1204	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.Q1203H(1)|p.Q932H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTGAAAACCTTGGTCGGTGT	0.398																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(3610-3612)CAA>CAT		CUB and Sushi multiple domains 1 precursor							183.0	180.0	181.0					8																	3200838		1909	4128	6037	SO:0001583	missense	64478					integral to membrane		g.chr8:3200838T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3612A>T	8.37:g.3200838T>A	ENSP00000430733:p.Gln1204His					CSMD1_uc011kwj.1_Missense_Mutation_p.Q596H|CSMD1_uc003wqe.2_Missense_Mutation_p.Q360H	p.Q1204H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	23	4002	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1204			Extracellular (Potential).|CUB 7.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3612A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.78|14.78	2.638401|2.638401	0.47153|0.47153	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.18502|.	2.21;2.21;2.21;2.21;2.21|.	5.76|5.76	-9.67|-9.67	0.00531|0.00531	CUB (5);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.43299|0.43299	0.1241|0.1241	L|L	0.60455|0.60455	1.87|1.87	0.27334|0.27334	N|N	0.956687|0.956687	P;P;P|.	0.43477|.	0.808;0.581;0.58|.	B;P;P|.	0.49276|.	0.325;0.489;0.605|.	T|T	0.49041|0.49041	-0.8980|-0.8980	10|5	0.51188|.	T|.	0.08|.	.|.	9.8663|9.8663	0.41145|0.41145	0.0:0.0851:0.2723:0.6426|0.0:0.0851:0.2723:0.6426	.|.	1204;1204;1204|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	H|W	1204;1204;1066;1203;1203;1203|684	ENSP00000383047:Q1204H;ENSP00000430733:Q1204H;ENSP00000441462:Q1203H;ENSP00000446243:Q1203H;ENSP00000441675:Q1203H|.	ENSP00000320445:Q1066H|.	Q|R	-|-	3|1	2|2	CSMD1|CSMD1	3188245|3188245	0.983000|0.983000	0.35010|0.35010	0.000000|0.000000	0.03702|0.03702	0.281000|0.281000	0.26958|0.26958	0.157000|0.157000	0.16402|0.16402	-2.025000|-2.025000	0.00935|0.00935	-0.256000|-0.256000	0.11100|0.11100	CAA|AGG		PASS	0.398	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		23	15	23	15	---	---	---	---
FAM167A	83648	broad.mit.edu	37	8	11301903	11301903	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:11301903G>C	ENST00000528897.1	-	2	637	c.18C>G	c.(16-18)atC>atG	p.I6M	FAM167A_ENST00000531564.1_5'Flank|FAM167A_ENST00000284486.4_Missense_Mutation_p.I6M|FAM167A_ENST00000534308.1_Missense_Mutation_p.I6M			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	6								p.I6M(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						CTTCCACGTGGATCTGGGGCA	0.672																																						uc010lry.1																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)ATC>ATG		hypothetical protein LOC83648							68.0	78.0	75.0					8																	11301903		2203	4300	6503	SO:0001583	missense	83648							g.chr8:11301903G>C		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"""chromosome 8 open reading frame 13"""	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.18C>G	8.37:g.11301903G>C	ENSP00000436655:p.Ile6Met					FAM167A_uc003wtw.2_Missense_Mutation_p.I6M	p.I6M	NM_053279	NP_444509	Q96KS9	F167A_HUMAN			2	638	-			6					A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Missense_Mutation	SNP	ENST00000528897.1	37	c.18C>G	CCDS5981.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870467	0.51588	.	.	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897;ENST00000531804	T;T;T;T	0.56776	1.18;1.18;1.18;0.44	5.02	4.15	0.48705	.	0.070853	0.56097	D	0.000025	T	0.44519	0.1297	L	0.46157	1.445	0.44627	D	0.9976	B	0.26195	0.144	B	0.21546	0.035	T	0.35301	-0.9794	10	0.33141	T	0.24	-7.4494	12.4795	0.55833	0.0804:0.0:0.9196:0.0	.	6	Q96KS9	F167A_HUMAN	M	6	ENSP00000284486:I6M;ENSP00000432232:I6M;ENSP00000436655:I6M;ENSP00000431951:I6M	ENSP00000284486:I6M	I	-	3	3	FAM167A	11339313	1.000000	0.71417	0.879000	0.34478	0.768000	0.43524	1.359000	0.34113	1.346000	0.45694	0.561000	0.74099	ATC		PASS	0.672	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1			55	60	55	60	---	---	---	---
SGCZ	137868	broad.mit.edu	37	8	14412337	14412337	+	Silent	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:14412337C>T	ENST00000382080.1	-	2	853	c.138G>A	c.(136-138)aaG>aaA	p.K46K	SGCZ_ENST00000421524.2_Silent_p.K33K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	33					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.K46K(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ATAAGCACCTCTTTCGCCATC	0.393																																						uc003wwq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(136-138)AAG>AAA		sarcoglycan zeta							231.0	217.0	222.0					8																	14412337		2203	4300	6503	SO:0001819	synonymous_variant	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:14412337C>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.138G>A	8.37:g.14412337C>T						SGCZ_uc010lss.2_Silent_p.K33K	p.K46K	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	2	798	-			33			Cytoplasmic (Potential).		Q6REU0	Silent	SNP	ENST00000382080.1	37	c.138G>A	CCDS5992.2																																																																																				PASS	0.393	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		5	99	5	99	---	---	---	---
PIWIL2	55124	broad.mit.edu	37	8	22165558	22165558	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:22165558G>T	ENST00000454009.2	+	14	2167	c.1658G>T	c.(1657-1659)gGg>gTg	p.G553V	PIWIL2_ENST00000521356.1_Missense_Mutation_p.G553V|PIWIL2_ENST00000356766.6_Missense_Mutation_p.G553V	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	553					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.G553V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATGCGTTGGGGGCTCCGTCTG	0.443																																						uc003xbn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1657-1659)GGG>GTG		piwi-like 2							61.0	54.0	56.0					8																	22165558		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22165558G>T	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1658G>T	8.37:g.22165558G>T	ENSP00000406956:p.Gly553Val					PIWIL2_uc011kzf.1_Missense_Mutation_p.G553V|PIWIL2_uc010ltv.2_Missense_Mutation_p.G553V	p.G553V	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	14	1806	+			553					A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.1658G>T	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444993	0.63178	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.06371	3.31;3.31;3.31	5.99	5.99	0.97316	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	M	0.81341	2.54	0.80722	D	1	B;B	0.31790	0.157;0.34	B;B	0.32533	0.097;0.147	T	0.00643	-1.1630	10	0.87932	D	0	.	19.3186	0.94226	0.0:0.0:1.0:0.0	.	553;553	E7ECA4;Q8TC59	.;PIWL2_HUMAN	V	553	ENSP00000349208:G553V;ENSP00000428267:G553V;ENSP00000406956:G553V	ENSP00000349208:G553V	G	+	2	0	PIWIL2	22221503	1.000000	0.71417	0.985000	0.45067	0.541000	0.35023	7.394000	0.79862	2.850000	0.98022	0.650000	0.86243	GGG		PASS	0.443	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			4	7	4	7	---	---	---	---
SARAF	51669	broad.mit.edu	37	8	29927179	29927179	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:29927179C>A	ENST00000256255.6	-	3	936	c.679G>T	c.(679-681)Ggc>Tgc	p.G227C	TMEM66_ENST00000536273.1_Missense_Mutation_p.G55C|TMEM66_ENST00000545648.1_Missense_Mutation_p.G55C	NM_016127.4	NP_057211.4	Q96BY9	SARAF_HUMAN		227					calcium ion transport (GO:0006816)|regulation of store-operated calcium entry (GO:2001256)	integral component of endoplasmic reticulum membrane (GO:0030176)		p.G227C(1)		endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GACTTAAAGCCTGGGGGAGGA	0.502																																						uc003xhs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)GGC>TGC		transmembrane protein 66 precursor							117.0	101.0	106.0					8																	29927179		2203	4300	6503	SO:0001583	missense	51669					integral to membrane		g.chr8:29927179C>A																												ENST00000256255.6:c.679G>T	8.37:g.29927179C>A	ENSP00000256255:p.Gly227Cys					TMEM66_uc003xht.2_Missense_Mutation_p.G227C|TMEM66_uc003xhu.2_Missense_Mutation_p.G191C|TMEM66_uc003xhv.2_Missense_Mutation_p.G55C	p.G227C	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)	3	863	-			227					B3KQQ4|B7Z9J1|D3DSU7|H9MHJ8|H9MHJ9|Q53HE8|Q9UNZ3|Q9Y683	Missense_Mutation	SNP	ENST00000256255.6	37	c.679G>T	CCDS6074.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	26.4|26.4|26.4	4.734691|4.734691|4.734691	0.89482|0.89482|0.89482	.|.|.	.|.|.	ENSG00000133872|ENSG00000133872|ENSG00000133872	ENST00000256255;ENST00000545648;ENST00000541035;ENST00000536273;ENST00000523127;ENST00000522794|ENST00000521265|ENST00000518296	T;T;T;T;T|.|.	0.51325|.|.	0.71;0.71;0.71;0.71;0.71|.|.	5.82|5.82|5.82	5.82|5.82|5.82	0.92795|0.92795|0.92795	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.82559|0.82559|0.82559	0.5063|0.5063|0.5063	M|M|M	0.85542|0.85542|0.85542	2.76|2.76|2.76	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.97110|.|.	1.0;1.0|.|.	D|D|D	0.83669|0.83669|0.83669	0.0165|0.0165|0.0165	10|5|5	0.72032|.|.	D|.|.	0.01|.|.	-25.1755|-25.1755|-25.1755	17.6081|17.6081|17.6081	0.88045|0.88045|0.88045	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	227;227|.|.	B3KQQ4;Q96BY9|.|.	.;TMM66_HUMAN|.|.	C|H|M	227;55;191;55;125;191|226|96	ENSP00000256255:G227C;ENSP00000441351:G55C;ENSP00000441723:G55C;ENSP00000428323:G125C;ENSP00000429630:G191C|.|.	ENSP00000256255:G227C|.|.	G|Q|R	-|-|-	1|3|2	0|2|0	TMEM66|TMEM66|TMEM66	30046721|30046721|30046721	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.969000|0.969000|0.969000	0.41365|0.41365|0.41365	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	6.632000|6.632000|6.632000	0.74281|0.74281|0.74281	2.765000|2.765000|2.765000	0.95021|0.95021|0.95021	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GGC|CAG|AGG		PASS	0.502	TMEM66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257254.4			22	21	22	21	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35579873	35579873	+	Silent	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:35579873A>T	ENST00000404895.2	+	9	1591	c.1263A>T	c.(1261-1263)acA>acT	p.T421T	UNC5D_ENST00000416672.1_Silent_p.T426T|UNC5D_ENST00000420357.1_Silent_p.T354T|UNC5D_ENST00000453357.2_Silent_p.T416T|UNC5D_ENST00000287272.2_Splice_Site_p.T365T|UNC5D_ENST00000449677.1_5'Flank	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	421					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T416T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGCATTGACAGGTGGCTTCC	0.552																																						uc003xjr.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1261-1263)ACA>ACT		unc-5 homolog D precursor							236.0	197.0	210.0					8																	35579873		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35579873A>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1263A>T	8.37:g.35579873A>T						UNC5D_uc003xjs.1_Silent_p.T416T|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Silent_p.T179T	p.T421T	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1591	+			421			Cytoplasmic (Potential).		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.1263A>T	CCDS6093.2																																																																																				PASS	0.552	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			49	41	49	41	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48706936	48706936	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:48706936T>C	ENST00000314191.2	-	75	10638	c.10582A>G	c.(10582-10584)Att>Gtt	p.I3528V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I3528V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3529	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.I3528V(1)|p.I3529V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGATAAACAATAGCCTGCGGG	0.443								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(10585-10587)ATT>GTT	NHEJ	protein kinase, DNA-activated, catalytic							97.0	91.0	93.0					8																	48706936		1891	4120	6011	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48706936T>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10582A>G	8.37:g.48706936T>C	ENSP00000313420:p.Ile3528Val					PRKDC_uc003xqj.2_Missense_Mutation_p.I3529V|PRKDC_uc011ldh.1_Intron	p.I3529V	NM_006904	NP_008835	P78527	PRKDC_HUMAN			75	10642	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3529			FAT.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.10585A>G		.	.	.	.	.	.	.	.	.	.	T	7.785	0.710336	0.15239	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02579	4.32;4.24	5.86	-1.27	0.09347	PIK-related kinase (1);	0.418032	0.26200	N	0.025746	T	0.04137	0.0115	M	0.69823	2.125	0.09310	N	1	B;B	0.16603	0.018;0.018	B;B	0.22753	0.041;0.041	T	0.29181	-1.0020	10	0.66056	D	0.02	.	7.3483	0.26676	0.1049:0.0608:0.541:0.2932	.	3528;3529	E7EUY0;P78527	.;PRKDC_HUMAN	V	3528	ENSP00000313420:I3528V;ENSP00000345182:I3528V	ENSP00000313420:I3528V	I	-	1	0	PRKDC	48869489	0.053000	0.20554	0.000000	0.03702	0.020000	0.10135	0.284000	0.18864	-0.431000	0.07307	0.533000	0.62120	ATT		PASS	0.443	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		7	19	7	19	---	---	---	---
XKR4	114786	broad.mit.edu	37	8	56015839	56015839	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:56015839T>A	ENST00000327381.6	+	1	891	c.791T>A	c.(790-792)cTc>cAc	p.L264H		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	264						integral component of membrane (GO:0016021)		p.L264H(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)			ATCTTGCAGCTCGGGCAAATC	0.572																																						uc003xsf.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(790-792)CTC>CAC		XK, Kell blood group complex subunit-related							55.0	60.0	58.0					8																	56015839		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56015839T>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.791T>A	8.37:g.56015839T>A	ENSP00000328326:p.Leu264His						p.L264H	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	823	+			264			Helical; (Potential).		Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.791T>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980386	0.74474	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.71103	-0.54	5.43	5.43	0.79202	.	0.220397	0.39146	N	0.001448	D	0.84977	0.5592	M	0.83774	2.66	0.53688	D	0.999977	D	0.89917	1.0	D	0.76071	0.987	D	0.87480	0.2420	10	0.87932	D	0	-9.2839	15.4857	0.75564	0.0:0.0:0.0:1.0	.	264	Q5GH76	XKR4_HUMAN	H	264	ENSP00000328326:L264H	ENSP00000328326:L264H	L	+	2	0	XKR4	56178393	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.563000	0.82314	2.063000	0.61619	0.454000	0.30748	CTC		PASS	0.572	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		15	35	15	35	---	---	---	---
FAM110B	90362	broad.mit.edu	37	8	59059317	59059317	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:59059317G>C	ENST00000361488.3	+	5	1408	c.528G>C	c.(526-528)gaG>gaC	p.E176D	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	176						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E176D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GCCCGCAGGAGGGCGGCTCCC	0.677																																						uc003xtj.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(526-528)GAG>GAC		hypothetical protein LOC90362							26.0	26.0	26.0					8																	59059317		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059317G>C	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.528G>C	8.37:g.59059317G>C	ENSP00000355204:p.Glu176Asp						p.E176D	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			5	1408	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	176					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.528G>C	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	G	9.977	1.227055	0.22542	.	.	ENSG00000169122	ENST00000361488	T	0.30981	1.51	5.49	-0.689	0.11313	.	0.142104	0.49305	D	0.000157	T	0.11707	0.0285	N	0.14661	0.345	0.23464	N	0.997627	B	0.02656	0.0	B	0.01281	0.0	T	0.13602	-1.0503	9	.	.	.	-19.2706	1.7036	0.02877	0.3227:0.2095:0.3589:0.1089	.	176	Q8TC76	F110B_HUMAN	D	176	ENSP00000355204:E176D	.	E	+	3	2	FAM110B	59221871	0.067000	0.21026	0.335000	0.25508	0.942000	0.58702	-0.128000	0.10531	-0.177000	0.10690	0.561000	0.74099	GAG		PASS	0.677	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		7	16	7	16	---	---	---	---
RAB2A	5862	broad.mit.edu	37	8	61484660	61484660	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:61484660G>T	ENST00000262646.7	+	3	525	c.174G>T	c.(172-174)caG>caT	p.Q58H	RAB2A_ENST00000531289.1_Missense_Mutation_p.Q34H|RAB2A_ENST00000529579.1_Missense_Mutation_p.Q58H	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	58					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q58H(2)		endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			TAAAACTTCAGATATGGGATA	0.318																																						uc003xud.1																			2	Substitution - Missense(2)		lung(2)		0						c.(172-174)CAG>CAT		RAB2A, member RAS oncogene family							101.0	96.0	98.0					8																	61484660		2203	4300	6503	SO:0001583	missense	5862				ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity	g.chr8:61484660G>T		CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.174G>T	8.37:g.61484660G>T	ENSP00000262646:p.Gln58His					RAB2A_uc011lef.1_Missense_Mutation_p.Q34H	p.Q58H	NM_002865	NP_002856	P61019	RAB2A_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0805)		3	382	+			58					B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP	ENST00000262646.7	37	c.174G>T	CCDS6175.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534395	0.64972	.	.	ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000529579;ENST00000543829	T;T;T	0.78481	-1.18;-1.18;-1.18	5.47	2.71	0.32032	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.82245	0.4995	M	0.68317	2.08	0.53688	D	0.999976	P;P	0.52463	0.953;0.947	P;P	0.59288	0.855;0.855	T	0.80520	-0.1346	10	0.87932	D	0	.	8.2188	0.31528	0.2524:0.0:0.7476:0.0	.	34;58	B4DMQ5;P61019	.;RAB2A_HUMAN	H	58;34;58;12	ENSP00000262646:Q58H;ENSP00000431846:Q34H;ENSP00000431589:Q58H	ENSP00000262646:Q58H	Q	+	3	2	RAB2A	61647214	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.863000	0.39459	0.275000	0.22094	0.491000	0.48974	CAG		PASS	0.318	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259145.2			10	23	10	23	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67579091	67579091	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:67579091C>A	ENST00000310421.4	-	1	361	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	35					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.G35W(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTCAAAAGCCCCCCCGAAGCA	0.677																																					NSCLC(179;265 2915 6144 43644)	uc003xwn.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8						c.(103-105)GGG>TGG		valosin containing protein (p97)/p47 complex							12.0	17.0	16.0					8																	67579091		2198	4290	6488	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67579091C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.103G>T	8.37:g.67579091C>A	ENSP00000309031:p.Gly35Trp					SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank	p.G35W	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	362	-		Lung NSC(129;0.142)|all_lung(136;0.227)	35					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.103G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789780	0.50102	.	.	ENSG00000175073	ENST00000310421	T	0.32753	1.44	6.03	4.19	0.49359	.	0.221479	0.37012	N	0.002295	T	0.14356	0.0347	N	0.14661	0.345	0.35654	D	0.812041	P	0.46327	0.876	B	0.33042	0.157	T	0.21109	-1.0255	10	0.87932	D	0	-4.3782	8.6789	0.34196	0.0:0.7686:0.1505:0.0809	.	35	Q96JH7	VCIP1_HUMAN	W	35	ENSP00000309031:G35W	ENSP00000309031:G35W	G	-	1	0	VCPIP1	67741645	1.000000	0.71417	0.958000	0.39756	0.583000	0.36354	0.000000	0.12993	1.558000	0.49541	0.655000	0.94253	GGG		PASS	0.677	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			7	8	7	8	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69104662	69104662	+	Silent	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:69104662T>A	ENST00000288368.4	+	37	4783	c.4506T>A	c.(4504-4506)gcT>gcA	p.A1502A		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1502					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.A1502A(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAAACACAGCTTGCAGTGCTT	0.552																																						uc003xxv.1																			1	Substitution - coding silent(1)		lung(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(4504-4506)GCT>GCA		DEP domain containing 2 isoform a							77.0	63.0	68.0					8																	69104662		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69104662T>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4506T>A	8.37:g.69104662T>A							p.A1502A	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			37	4533	+			1502					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.4506T>A	CCDS6201.1																																																																																				PASS	0.552	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		5	18	5	18	---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70744523	70744523	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:70744523C>A	ENST00000260126.4	-	2	1092	c.386G>T	c.(385-387)tGc>tTc	p.C129F	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.C129F|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.C129F	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.C129F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CACCAGGAAGCAACGGGAATC	0.552											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xyl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(385-387)TGC>TTC		solute carrier organic anion transporter family,							119.0	111.0	114.0					8																	70744523		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744523C>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.386G>T	8.37:g.70744523C>A	ENSP00000260126:p.Cys129Phe		OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	SLCO5A1_uc010lzb.2_Missense_Mutation_p.C129F|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.C129F|SLCO5A1_uc010lzc.2_Missense_Mutation_p.C129F	p.C129F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1093	-	Breast(64;0.0654)		129			Helical; Name=1; (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.386G>T	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976016	0.53720	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.38240	1.15;1.15;1.15	5.71	5.71	0.89125	Major facilitator superfamily domain, general substrate transporter (1);	0.048574	0.85682	D	0.000000	T	0.25754	0.0627	L	0.28556	0.865	0.58432	D	0.999997	B;B;B;B	0.17852	0.024;0.007;0.019;0.016	B;B;B;B	0.21917	0.037;0.015;0.037;0.022	T	0.05801	-1.0863	10	0.06365	T	0.9	.	14.5677	0.68191	0.1812:0.8188:0.0:0.0	.	129;129;129;129	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	F	129	ENSP00000260126:C129F;ENSP00000434422:C129F;ENSP00000431611:C129F	ENSP00000260126:C129F	C	-	2	0	SLCO5A1	70907077	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.306000	0.51881	2.704000	0.92352	0.561000	0.74099	TGC		PASS	0.552	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		9	26	9	26	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73849404	73849404	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:73849404G>T	ENST00000523207.1	+	3	2402	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	605					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.S605I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGCATCGACAGCTTCACCAGC	0.582																																						uc003xzb.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1813-1815)AGC>ATC		potassium voltage-gated channel, Shab-related							76.0	78.0	77.0					8																	73849404		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849404G>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1814G>T	8.37:g.73849404G>T	ENSP00000430846:p.Ser605Ile						p.S605I	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2402	+	Breast(64;0.137)		605			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1814G>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096242	0.76870	.	.	ENSG00000182674	ENST00000523207	T	0.38401	1.14	5.04	5.04	0.67666	.	0.439321	0.19221	N	0.119667	T	0.60090	0.2242	M	0.64170	1.965	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.62282	-0.6887	10	0.87932	D	0	.	18.5564	0.91086	0.0:0.0:1.0:0.0	.	605	Q92953	KCNB2_HUMAN	I	605	ENSP00000430846:S605I	ENSP00000430846:S605I	S	+	2	0	KCNB2	74011958	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.511000	0.73733	2.602000	0.87976	0.591000	0.81541	AGC		PASS	0.582	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		17	45	17	45	---	---	---	---
OSR2	116039	broad.mit.edu	37	8	99961377	99961377	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:99961377G>C	ENST00000297565.4	+	2	693	c.197G>C	c.(196-198)cGc>cCc	p.R66P	OSR2_ENST00000522510.1_Missense_Mutation_p.R66P|OSR2_ENST00000523368.1_Missense_Mutation_p.R66P|OSR2_ENST00000435298.2_Missense_Mutation_p.R66P|OSR2_ENST00000457907.2_Missense_Mutation_p.R187P	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	66					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.R66P(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GAGATCACCCGCTCCACCATC	0.647																																						uc003yir.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(196-198)CGC>CCC		odd-skipped related 2 isoform a							57.0	65.0	62.0					8																	99961377		2046	4186	6232	SO:0001583	missense	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961377G>C	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.197G>C	8.37:g.99961377G>C	ENSP00000297565:p.Arg66Pro					OSR2_uc010mbn.2_Missense_Mutation_p.R66P|OSR2_uc003yiq.2_Missense_Mutation_p.R66P|OSR2_uc011lgx.1_Missense_Mutation_p.R187P	p.R66P	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	732	+	Breast(36;4.14e-07)		66					A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	ENST00000297565.4	37	c.197G>C	CCDS47901.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349467	0.61183	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907;ENST00000520951;ENST00000518199	T;T;T;T;T;T;T	0.10288	3.03;3.0;3.22;3.0;2.89;3.1;3.23	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	L	0.50333	1.59	0.53688	D	0.999973	D;D;P;D	0.76494	0.999;0.998;0.715;0.998	D;D;B;D	0.65773	0.937;0.938;0.109;0.931	T	0.00428	-1.1745	9	.	.	.	-26.5285	13.8183	0.63306	0.0:0.1546:0.8453:0.0	.	187;66;66;66	B4E3B7;E5RH04;Q8N2R0;Q8N2R0-2	.;.;OSR2_HUMAN;.	P	66;66;66;66;187;119;66	ENSP00000430041:R66P;ENSP00000297565:R66P;ENSP00000402862:R66P;ENSP00000430780:R66P;ENSP00000414657:R187P;ENSP00000430074:R119P;ENSP00000429910:R66P	.	R	+	2	0	OSR2	100030553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.406000	0.80017	2.470000	0.83445	0.655000	0.94253	CGC		PASS	0.647	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		22	32	22	32	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106810992	106810992	+	Silent	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:106810992G>T	ENST00000407775.2	+	7	1030	c.780G>T	c.(778-780)cgG>cgT	p.R260R	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_5'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.R128R|ZFPM2_ENST00000517361.1_Silent_p.R128R	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	260			R -> Q (probable disease-associated mutation found in a patient with a disorder of sex development; results in reduced transactivation activity on the AMH promoter; reduced interaction with GATA4). {ECO:0000269|PubMed:24549039}.		blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R260R(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTGGTATCGGAGTGAGCGGA	0.488																																						uc003ymd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(778-780)CGG>CGT		zinc finger protein, multitype 2							100.0	97.0	98.0					8																	106810992		2045	4200	6245	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106810992G>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.780G>T	8.37:g.106810992G>T						ZFPM2_uc011lhs.1_5'UTR|uc003yme.1_5'Flank	p.R260R	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	803	+			260			C2HC-type 1.		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.780G>T	CCDS47908.1																																																																																				PASS	0.488	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			9	28	9	28	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	114111122	114111122	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:114111122C>A	ENST00000297405.5	-	5	1024	c.780G>T	c.(778-780)gaG>gaT	p.E260D	CSMD3_ENST00000455883.2_Missense_Mutation_p.E260D|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.E260D|CSMD3_ENST00000343508.3_Missense_Mutation_p.E220D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	260	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E260D(1)|p.E220D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTATGGTACTCATTAGGAA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(778-780)GAG>GAT		CUB and Sushi multiple domains 3 isoform 1							125.0	108.0	114.0					8																	114111122		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:114111122C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.780G>T	8.37:g.114111122C>A	ENSP00000297405:p.Glu260Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Missense_Mutation_p.E220D|CSMD3_uc011lhx.1_Missense_Mutation_p.E260D|CSMD3_uc010mcx.1_Missense_Mutation_p.E260D	p.E260D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			5	939	-			260			Extracellular (Potential).|CUB 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.780G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.820047	0.32145	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.41	-1.43	0.08884	CUB (5);	0.165131	0.40302	N	0.001126	T	0.20536	0.0494	N	0.13003	0.285	0.25146	N	0.990467	B;P;B;P	0.40909	0.07;0.732;0.007;0.692	B;B;B;P	0.47645	0.033;0.372;0.022;0.553	T	0.33292	-0.9874	10	0.14656	T	0.56	.	12.4047	0.55432	0.0:0.4845:0.0:0.5155	.	260;260;260;220	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	D	220;260;260;260	ENSP00000345799:E220D;ENSP00000297405:E260D;ENSP00000412263:E260D;ENSP00000343124:E260D	ENSP00000297405:E260D	E	-	3	2	CSMD3	114180298	0.018000	0.18449	0.995000	0.50966	0.989000	0.77384	-0.902000	0.04088	-0.121000	0.11787	0.655000	0.94253	GAG		PASS	0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		24	34	24	34	---	---	---	---
EXT1	2131	broad.mit.edu	37	8	119122650	119122650	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:119122650G>A	ENST00000378204.2	-	1	1442	c.636C>T	c.(634-636)ggC>ggT	p.G212G		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	212					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.G212G(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GCATCGCCTGGCCGATGTCAA	0.468			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													uc003yok.1			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	Mis|N|F|S	multiple exostoses type 1 gene			M		exostoses|osteosarcoma			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)	4						c.(634-636)GGC>GGT		exostosin 1							57.0	67.0	64.0					8																	119122650		2202	4295	6497	SO:0001819	synonymous_variant	2131	Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119122650G>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.636C>T	8.37:g.119122650G>A							p.G212G	NM_000127	NP_000118	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1409	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		212			Lumenal (Potential).		B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	c.636C>T	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	G	4.894	0.166210	0.09339	.	.	ENSG00000182197	ENST00000436216	.	.	.	5.58	4.65	0.58169	.	.	.	.	.	T	0.64011	0.2560	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61347	-0.7081	4	.	.	.	-9.8411	12.3019	0.54878	0.0:0.1786:0.7055:0.1159	.	.	.	.	S	2	.	.	P	-	1	0	EXT1	119191831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.256000	0.32921	2.616000	0.88540	0.462000	0.41574	CCA		PASS	0.468	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		63	65	63	65	---	---	---	---
DEPTOR	64798	broad.mit.edu	37	8	120940741	120940741	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:120940741A>T	ENST00000286234.5	+	2	354	c.224A>T	c.(223-225)gAa>gTa	p.E75V	DEPTOR_ENST00000523492.1_Intron	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	75	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)		p.E75V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TGGCTGATTGAACACAAAGAG	0.458																																						uc003yow.3																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GAA>GTA		DEP domain containing 6							120.0	116.0	117.0					8																	120940741		2203	4300	6503	SO:0001583	missense	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:120940741A>T		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.224A>T	8.37:g.120940741A>T	ENSP00000286234:p.Glu75Val					DEPDC6_uc011lid.1_Intron	p.E75V	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		2	411	+	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		75			DEP 1.		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Missense_Mutation	SNP	ENST00000286234.5	37	c.224A>T	CCDS6331.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701846	0.68501	.	.	ENSG00000155792	ENST00000286234	T	0.25414	1.8	5.95	4.77	0.60923	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.145747	0.64402	D	0.000005	T	0.33990	0.0882	M	0.66560	2.04	0.80722	D	1	B	0.30870	0.298	B	0.37833	0.259	T	0.11665	-1.0578	10	0.59425	D	0.04	-14.3968	13.1847	0.59673	0.8667:0.1333:0.0:0.0	.	75	Q8TB45	DPTOR_HUMAN	V	75	ENSP00000286234:E75V	ENSP00000286234:E75V	E	+	2	0	DEPTOR	121009922	1.000000	0.71417	0.971000	0.41717	0.986000	0.74619	6.866000	0.75506	1.040000	0.40099	0.459000	0.35465	GAA		PASS	0.458	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783		40	40	40	40	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135614255	135614255	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:135614255G>A	ENST00000377838.3	-	6	1881	c.1707C>T	c.(1705-1707)agC>agT	p.S569S	ZFAT_ENST00000429442.2_Silent_p.S557S|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520727.1_Silent_p.S557S|ZFAT_ENST00000523399.1_Silent_p.S507S|ZFAT_ENST00000520214.1_Silent_p.S557S|ZFAT_ENST00000520356.1_Silent_p.S557S	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	569					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S557S(1)|p.S569S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCAGGGCTGTGCTTTCGGCCT	0.597																																						uc003yup.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(1705-1707)AGC>AGT		zinc finger protein 406 isoform ZFAT-1							20.0	22.0	22.0					8																	135614255		1911	4135	6046	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614255G>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1707C>T	8.37:g.135614255G>A						ZFAT_uc003yun.2_Silent_p.S557S|ZFAT_uc003yuo.2_Silent_p.S557S|ZFAT_uc010meh.2_Silent_p.S557S|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.S557S|ZFAT_uc010mej.2_Silent_p.S507S|ZFAT_uc003yur.2_Silent_p.S557S	p.S569S	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		6	1882	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		569					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.1707C>T	CCDS47924.1																																																																																				PASS	0.597	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		16	20	16	20	---	---	---	---
AGO2	27161	broad.mit.edu	37	8	141583033	141583033	+	Splice_Site	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:141583033T>A	ENST00000220592.5	-	3	328		c.e3-2		AGO2_ENST00000517293.1_Splice_Site|AGO2_ENST00000519980.1_Splice_Site	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.?(1)									ACGATTTCCCTGAAACAAAGA	0.403																																						uc003yvn.2																			1	Unknown(1)		lung(1)		0						c.e3-1		argonaute 2 isoform 1							89.0	82.0	84.0					8																	141583033		2203	4300	6503	SO:0001630	splice_region_variant	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141583033T>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.216-2A>T	8.37:g.141583033T>A						EIF2C2_uc010men.2_Splice_Site|EIF2C2_uc010meo.2_Splice_Site_p.R72_splice	p.R72_splice	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		3	256	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)						Q8TCZ5|Q8WV58|Q96ID1	Splice_Site	SNP	ENST00000220592.5	37	c.216_splice	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329522	0.81690	.	.	ENSG00000123908	ENST00000220592;ENST00000519980;ENST00000524328	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1999	0.65696	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF2C2	141652215	1.000000	0.71417	0.994000	0.49952	0.932000	0.56968	7.359000	0.79477	1.882000	0.54519	0.459000	0.35465	.		PASS	0.403	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4		Intron	25	50	25	50	---	---	---	---
OPLAH	26873	broad.mit.edu	37	8	145112765	145112765	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr8:145112765G>A	ENST00000426825.1	-	9	1231	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	384					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)	p.R384C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTACCTTTGCGGTAGCAGGCG	0.662																																						uc003zar.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1150-1152)CGC>TGC		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)						17.0	24.0	22.0					8																	145112765		2067	4190	6257	SO:0001583	missense	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145112765G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.1150C>T	8.37:g.145112765G>A	ENSP00000475943:p.Arg384Cys					OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_Missense_Mutation_p.R162C	p.R384C	NM_017570	NP_060040	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		9	1232	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		384					A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	ENST00000426825.1	37	c.1150C>T		.	.	.	.	.	.	.	.	.	.	G	13.26	2.182879	0.38511	.	.	ENSG00000178814	ENST00000426825	.	.	.	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.74168	0.3681	.	.	.	0.44555	D	0.997519	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.976	T	0.82440	-0.0456	7	0.87932	D	0	.	12.0697	0.53609	0.0:0.0:1.0:0.0	.	384;384	A7E261;O14841	.;OPLA_HUMAN	C	384	.	ENSP00000412071:R384C	R	-	1	0	OPLAH	145184753	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	2.870000	0.48451	2.103000	0.63969	0.467000	0.42956	CGC		PASS	0.662	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		6	12	6	12	---	---	---	---
HAUS6	54801	broad.mit.edu	37	9	19096745	19096745	+	Missense_Mutation	SNP	G	G	A	rs539387980		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr9:19096745G>A	ENST00000380502.3	-	2	618	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	51					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.R51C(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAGGCATCACGGTTCAGCTTG	0.299													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16267	0.0		0.0	False		,,,				2504	0.0					uc003znk.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)	2						c.(151-153)CGT>TGT		HAUS augmin-like complex, subunit 6							46.0	51.0	49.0					9																	19096745		2203	4298	6501	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19096745G>A	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.151C>T	9.37:g.19096745G>A	ENSP00000369871:p.Arg51Cys						p.R51C	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN			2	404	-			51					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.151C>T	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648439	0.67358	.	.	ENSG00000147874	ENST00000380502	T	0.24350	1.86	5.25	4.23	0.50019	.	0.265582	0.41712	D	0.000830	T	0.40979	0.1139	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	T	0.27706	-1.0066	10	0.62326	D	0.03	-12.1386	5.8937	0.18927	0.095:0.0:0.5835:0.3215	.	51	Q7Z4H7	HAUS6_HUMAN	C	51	ENSP00000369871:R51C	ENSP00000369871:R51C	R	-	1	0	HAUS6	19086745	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.368000	0.59505	2.604000	0.88044	0.650000	0.86243	CGT		PASS	0.299	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		8	4	8	4	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974768	21974768	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr9:21974768G>T	ENST00000304494.5	-	1	329	c.59C>A	c.(58-60)gCg>gAg	p.A20E	CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.A20E|CDKN2A_ENST00000498124.1_Missense_Mutation_p.A20E|CDKN2A_ENST00000579122.1_Missense_Mutation_p.A20E|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	20			A -> P (in a lung tumor and melanoma).|A -> S (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.A20E(1)|p.0(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.A20_A21del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCCCGGGCCGCGGCCGTGGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1343	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(2)|Substitution - Missense(1)|Deletion - In frame(1)	p.0?(1112)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.A20A(2)|p.A20T(2)|p.A20E(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.M9_A20>X(1)|p.A20fs*6(1)|p.A20_A21del(1)|p.A20S(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(163)|lung(147)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(58-60)GCG>GAG		cyclin-dependent kinase inhibitor 2A isoform 1							12.0	16.0	14.0					9																	21974768		1835	3802	5637	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21974768G>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.59C>A	9.37:g.21974768G>T	ENSP00000307101:p.Ala20Glu	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.A20E|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.A20E	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	271	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	20		A -> P (in a lung tumor and melanoma).|A -> S (in a biliary tract tumor).	ANK 1.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.59C>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.578004	0.86645	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.72394	-0.65;-0.65	4.89	3.99	0.46301	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.90092	0.6905	H	0.99357	4.53	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75484	0.961;0.986	D	0.93185	0.6578	9	0.87932	D	0	.	12.686	0.56948	0.0822:0.0:0.9178:0.0	.	20;20	P42771;G3XAG3	CD2A1_HUMAN;.	E	20	ENSP00000307101:A20E;ENSP00000394932:A20E	ENSP00000307101:A20E	A	-	2	0	CDKN2A	21964768	1.000000	0.71417	0.007000	0.13788	0.048000	0.14542	6.949000	0.75971	1.406000	0.46857	-0.150000	0.13652	GCG		PASS	0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		10	8	10	8	---	---	---	---
LINGO2	158038	broad.mit.edu	37	9	27949549	27949549	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr9:27949549T>A	ENST00000379992.2	-	6	1570	c.1121A>T	c.(1120-1122)cAg>cTg	p.Q374L	LINGO2_ENST00000308675.3_Missense_Mutation_p.Q374L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	374	LRRCT.					integral component of membrane (GO:0016021)		p.Q374L(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCCACCAAACTGCAGGGTGGG	0.542																																						uc003zqu.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1120-1122)CAG>CTG		leucine rich repeat and Ig domain containing 2							40.0	39.0	40.0					9																	27949549		2202	4300	6502	SO:0001583	missense	158038					integral to membrane		g.chr9:27949549T>A	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1121A>T	9.37:g.27949549T>A	ENSP00000369328:p.Gln374Leu					LINGO2_uc010mjf.1_Missense_Mutation_p.Q374L|LINGO2_uc003zqv.1_Missense_Mutation_p.Q374L	p.Q374L	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1315	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	374			LRRCT.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1121A>T	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	T	8.759	0.923124	0.18056	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.57107	0.42;0.42	6.16	6.16	0.99307	Cysteine-rich flanking region, C-terminal (1);	0.407844	0.27871	N	0.017510	T	0.28830	0.0715	N	0.02539	-0.55	0.38683	D	0.952599	B	0.02656	0.0	B	0.04013	0.001	T	0.28267	-1.0049	9	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	374	Q7L985	LIGO2_HUMAN	L	374	ENSP00000369328:Q374L;ENSP00000310126:Q374L	.	Q	-	2	0	LINGO2	27939549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.342000	0.52159	2.367000	0.80283	0.528000	0.53228	CAG		PASS	0.542	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		22	17	22	17	---	---	---	---
GALT	2592	broad.mit.edu	37	9	34647934	34647934	+	Silent	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr9:34647934G>T	ENST00000378842.3	+	5	525	c.483G>T	c.(481-483)ctG>ctT	p.L161L	GALT_ENST00000556278.1_Intron|IL11RA_ENST00000555003.1_5'Flank|GALT_ENST00000450095.2_Silent_p.L52L	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	161					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)	p.L161L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CAGAGGAGCTGGGTGCCCAGT	0.587									Galactosemia																													uc003zve.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(481-483)CTG>CTT		galactose-1-phosphate uridylyltransferase							75.0	70.0	72.0					9																	34647934		2203	4300	6503	SO:0001819	synonymous_variant	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34647934G>T	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.483G>T	9.37:g.34647934G>T						GALT_uc003zvf.2_Silent_p.L52L|GALT_uc003zvg.2_Silent_p.L33L|GALT_uc003zvh.2_Silent_p.L113L|GALT_uc011lop.1_Silent_p.L113L|IL11RA_uc003zvi.2_5'Flank	p.L161L	NM_000155	NP_000146	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	5	550	+	all_epithelial(49;0.102)		161					B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Silent	SNP	ENST00000378842.3	37	c.483G>T	CCDS6565.1																																																																																				PASS	0.587	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		22	22	22	22	---	---	---	---
FBXO10	26267	broad.mit.edu	37	9	37537356	37537356	+	Silent	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr9:37537356C>T	ENST00000432825.2	-	3	1218	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L	FBXO10_ENST00000543968.1_5'Flank|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	390					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L390L(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GAGGTGGGCCCAGAAATGAGC	0.587																																						uc004aab.2																			1	Substitution - coding silent(1)		lung(1)	lung(5)	5						c.(1168-1170)CTG>CTA		F-box protein 10							18.0	20.0	19.0					9																	37537356		2008	4171	6179	SO:0001819	synonymous_variant	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37537356C>T	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.1170G>A	9.37:g.37537356C>T						FBXO10_uc004aac.2_Silent_p.L406L|FBXO10_uc004aad.2_Intron	p.L390L	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	3	1219	-			390					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	c.1170G>A	CCDS47966.1																																																																																				PASS	0.587	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			3	1	3	1	---	---	---	---
CBWD6	644019	broad.mit.edu	37	9	69238318	69238318	+	Splice_Site	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr9:69238318T>A	ENST00000377457.5	-	8	681		c.e8-2		CBWD6_ENST00000377449.1_Splice_Site|CBWD6_ENST00000382399.4_Splice_Site	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6								ATP binding (GO:0005524)	p.?(1)		lung(4)	4						GCAACTTGCCTAAAATAGCAA	0.269																																						uc004afj.3																			1	Unknown(1)		lung(1)		0						c.e8-1		COBW domain containing 6							82.0	119.0	105.0					9																	69238318		1326	2266	3592	SO:0001630	splice_region_variant	644019						ATP binding	g.chr9:69238318T>A		CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.576-2A>T	9.37:g.69238318T>A						CBWD6_uc004afk.3_Intron|CBWD6_uc011lrf.1_Intron	p.R192_splice	NM_001085457	NP_001078926	Q4V339	CBWD6_HUMAN			8	682	-									Splice_Site	SNP	ENST00000377457.5	37	c.576_splice	CCDS43827.1	.	.	.	.	.	.	.	.	.	.	.	11.18	1.562118	0.27915	.	.	ENSG00000204790	ENST00000377457;ENST00000377449;ENST00000382399;ENST00000377445	.	.	.	2.49	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5159	0.33246	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBWD6	68528138	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	5.640000	0.67875	1.150000	0.42419	0.155000	0.16302	.		PASS	0.269	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143172.2	XM_928822	Intron	7	64	7	64	---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98215785	98215785	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr9:98215785C>T	ENST00000331920.6	-	20	3723	c.3424G>A	c.(3424-3426)Gga>Aga	p.G1142R	PTCH1_ENST00000429896.2_Missense_Mutation_p.G991R|PTCH1_ENST00000418258.1_Missense_Mutation_p.G991R|PTCH1_ENST00000437951.1_Missense_Mutation_p.G1076R|PTCH1_ENST00000421141.1_Missense_Mutation_p.G991R|PTCH1_ENST00000375274.2_Missense_Mutation_p.G1141R|PTCH1_ENST00000430669.2_Missense_Mutation_p.G1076R	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1142					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.G1141R(2)|p.G1142R(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACTCAGATCCCGCCAGCATC	0.577																																						uc004avk.3																			4	Substitution - Missense(4)		lung(4)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(3424-3426)GGA>AGA		patched isoform L							93.0	83.0	86.0					9																	98215785		2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98215785C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3424G>A	9.37:g.98215785C>T	ENSP00000332353:p.Gly1142Arg					PTCH1_uc010mro.2_Missense_Mutation_p.G991R|PTCH1_uc010mrp.2_Missense_Mutation_p.G991R|PTCH1_uc010mrq.2_Missense_Mutation_p.G991R|PTCH1_uc004avl.3_Missense_Mutation_p.G991R|PTCH1_uc010mrr.2_Missense_Mutation_p.G1076R|PTCH1_uc004avm.3_Missense_Mutation_p.G1141R	p.G1142R	NM_000264	NP_000255	Q13635	PTC1_HUMAN			20	3612	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1142			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.3424G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436061	0.83885	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68	5.35	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.96522	0.8865	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.83275	0.994;0.996;0.985	D	0.96074	0.9048	10	0.42905	T	0.14	-18.991	14.0273	0.64592	0.0:0.9275:0.0:0.0725	.	1076;1141;1142	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	R	1142;1076;991;991;578;1076;991;1141	ENSP00000332353:G1142R;ENSP00000389744:G1076R;ENSP00000399981:G991R;ENSP00000396135:G991R;ENSP00000410287:G1076R;ENSP00000414823:G991R;ENSP00000364423:G1141R	ENSP00000332353:G1142R	G	-	1	0	PTCH1	97255606	1.000000	0.71417	0.751000	0.31187	0.848000	0.48234	7.320000	0.79064	1.486000	0.48398	0.591000	0.81541	GGA		PASS	0.577	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		27	19	27	19	---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98278916	98278916	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr9:98278916G>T	ENST00000375274.2	-	1	331	c.187C>A	c.(187-189)Cgc>Agc	p.R63S	PTCH1_ENST00000468211.2_5'UTR|PTCH1_ENST00000437951.1_5'UTR|RP11-435O5.4_ENST00000604650.1_RNA|PTCH1_ENST00000430669.2_5'UTR			Q13635	PTC1_HUMAN	patched 1	0					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.R63S(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TTGTCGCTGCGGGTCTCTTTG	0.512																																						uc004avm.3																			2	Substitution - Missense(2)		lung(2)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(187-189)CGC>AGC		patched isoform L'							121.0	123.0	123.0					9																	98278916		1907	4102	6009	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98278916G>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000375274.2:c.187C>A	9.37:g.98278916G>T	ENSP00000364423:p.Arg63Ser					PTCH1_uc010mrr.2_5'UTR|PTCH1_uc004avo.2_5'UTR|PTCH1_uc010mrv.1_RNA|PTCH1_uc010mrw.1_RNA	p.R63S	NM_001083603	NP_001077072	Q13635	PTC1_HUMAN			1	332	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	Error:Variant_position_missing_in_Q13635_after_alignment					A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000375274.2	37	c.187C>A	CCDS47995.1	.	.	.	.	.	.	.	.	.	.	g	8.524	0.869522	0.17322	.	.	ENSG00000185920	ENST00000375274	D	0.89939	-2.59	2.62	-2.36	0.06663	.	.	.	.	.	T	0.73946	0.3652	.	.	.	0.58432	D	0.999995	B	0.18166	0.026	B	0.06405	0.002	T	0.56792	-0.7920	8	0.21540	T	0.41	.	0.6146	0.00767	0.3716:0.1714:0.2839:0.1731	.	63	Q13635-2	.	S	63	ENSP00000364423:R63S	ENSP00000364423:R63S	R	-	1	0	PTCH1	97318737	0.912000	0.30974	0.990000	0.47175	0.866000	0.49608	-0.116000	0.10724	-0.270000	0.09285	0.299000	0.19835	CGC		PASS	0.512	PTCH1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406923.1	NM_000264		12	7	12	7	---	---	---	---
FRRS1L	23732	broad.mit.edu	37	9	111899836	111899836	+	Missense_Mutation	SNP	C	C	A	rs563101375		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr9:111899836C>A	ENST00000561981.2	-	5	933	c.934G>T	c.(934-936)Gac>Tac	p.D312Y		NM_014334.2	NP_055149.2	Q9P0K9	FRS1L_HUMAN	ferric-chelate reductase 1-like	312						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.D312Y(1)									ATAAAAATGTCTTCATACTTG	0.433																																						uc004bdw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(934-936)GAC>TAC		hypothetical protein LOC23732							150.0	150.0	150.0					9																	111899836		2203	4300	6503	SO:0001583	missense	23732					integral to membrane		g.chr9:111899836C>A	AF155065	CCDS35098.1	9q31.3	2014-07-16	2012-03-06	2012-03-06	ENSG00000260230	ENSG00000260230			1362	protein-coding gene	gene with protein product		604574	"""chromosome 9 open reading frame 4"""	C9orf4		10603000	Standard	NM_014334		Approved	CG-6	uc004bdw.1	Q9P0K9	OTTHUMG00000020468	ENST00000561981.2:c.934G>T	9.37:g.111899836C>A	ENSP00000477141:p.Asp312Tyr						p.D312Y	NM_014334	NP_055149	Q9P0K9	CI004_HUMAN			5	934	-			312					Q5T4G4	Missense_Mutation	SNP	ENST00000561981.2	37	c.934G>T	CCDS35098.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864275	0.91511	.	.	ENSG00000136805	ENST00000374581	.	.	.	5.86	5.86	0.93980	DOMON domain (1);	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68519	-0.5387	9	0.52906	T	0.07	-7.7471	20.1931	0.98233	0.0:1.0:0.0:0.0	.	312	Q9P0K9	CI004_HUMAN	Y	312	.	ENSP00000363709:D312Y	D	-	1	0	C9orf4	110939657	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.771000	0.95319	0.563000	0.77884	GAC		PASS	0.433	FRRS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053586.2	NM_014334		49	31	49	31	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7239578	7239578	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:7239578T>C	ENST00000361972.4	-	15	1720	c.1630A>G	c.(1630-1632)Aac>Gac	p.N544D	SFMBT2_ENST00000397167.1_Missense_Mutation_p.N544D	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	544					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.N544D(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTTCCTTTGTTCAGGTAAGGG	0.517																																						uc009xio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1630-1632)AAC>GAC		Scm-like with four mbt domains 2							123.0	112.0	116.0					10																	7239578		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7239578T>C	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1630A>G	10.37:g.7239578T>C	ENSP00000355109:p.Asn544Asp					SFMBT2_uc001ijn.1_Missense_Mutation_p.N544D|SFMBT2_uc010qay.1_Intron	p.N544D	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			15	1721	-			544					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1630A>G	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883935	0.91814	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.38887	1.11;1.11	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.53180	-0.8475	10	0.16420	T	0.52	.	14.8524	0.70306	0.0:0.0:0.0:1.0	.	544	Q5VUG0	SMBT2_HUMAN	D	544	ENSP00000355109:N544D;ENSP00000380353:N544D	ENSP00000355109:N544D	N	-	1	0	SFMBT2	7279584	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.911000	0.87458	1.909000	0.55274	0.455000	0.32223	AAC		PASS	0.517	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		29	29	29	29	---	---	---	---
CREM	1390	broad.mit.edu	37	10	35500642	35500642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:35500642C>T	ENST00000395895.2	+	10	1159	c.997C>T	c.(997-999)Cga>Tga	p.R333*	RP11-324I22.3_ENST00000602435.1_RNA|CREM_ENST00000374728.3_Nonsense_Mutation_p.R193*|CREM_ENST00000487763.1_Nonsense_Mutation_p.R93*|CREM_ENST00000429130.3_Nonsense_Mutation_p.R317*|CREM_ENST00000345491.3_Nonsense_Mutation_p.R272*|CREM_ENST00000479070.1_Nonsense_Mutation_p.R284*|CREM_ENST00000488328.1_Nonsense_Mutation_p.R81*|CREM_ENST00000473940.1_3'UTR|CREM_ENST00000395887.3_Nonsense_Mutation_p.R254*|CREM_ENST00000484283.1_Nonsense_Mutation_p.R191*|CREM_ENST00000463960.1_Nonsense_Mutation_p.R166*|CREM_ENST00000356917.5_3'UTR|CREM_ENST00000342105.3_Nonsense_Mutation_p.R217*|CREM_ENST00000354759.3_3'UTR|CREM_ENST00000333809.8_3'UTR|CREM_ENST00000344351.5_3'UTR|CREM_ENST00000474362.1_Nonsense_Mutation_p.R68*|CREM_ENST00000468236.1_Nonsense_Mutation_p.R97*|CREM_ENST00000460270.1_3'UTR|CREM_ENST00000374721.3_3'UTR|CREM_ENST00000361599.4_Nonsense_Mutation_p.R242*|CREM_ENST00000348787.2_Nonsense_Mutation_p.R193*|CREM_ENST00000463314.1_Nonsense_Mutation_p.R110*|CREM_ENST00000490511.1_Nonsense_Mutation_p.R85*|CREM_ENST00000439705.1_3'UTR			Q03060	CREM_HUMAN	cAMP responsive element modulator	333	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R254R(1)|p.R85R(1)|p.R85*(1)|p.R254*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						TCTGGAGAGCCGAGTTGCAGT	0.388																																						uc001iyb.2																			4	Substitution - Nonsense(2)|Substitution - coding silent(2)		lung(4)		0						c.(814-816)CGA>TGA		cAMP responsive element modulator isoform a							87.0	93.0	91.0					10																	35500642		2203	4300	6503	SO:0001587	stop_gained	1390				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:35500642C>T		CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.997C>T	10.37:g.35500642C>T	ENSP00000379232:p.Arg333*					CREM_uc001ixy.2_Nonsense_Mutation_p.R68*|CREM_uc001ixz.2_3'UTR|CREM_uc001iya.2_3'UTR|CREM_uc001iyc.2_Nonsense_Mutation_p.R193*|CREM_uc001iyd.2_3'UTR|CREM_uc001iye.2_3'UTR|CREM_uc001iyf.2_Nonsense_Mutation_p.R242*|CREM_uc001iyg.2_Nonsense_Mutation_p.R179*|CREM_uc001iyh.2_Nonsense_Mutation_p.R217*|CREM_uc001iyi.2_Nonsense_Mutation_p.R154*|CREM_uc001iyj.2_Nonsense_Mutation_p.R151*|CREM_uc001iyk.2_3'UTR|CREM_uc001iyl.2_Nonsense_Mutation_p.R93*|CREM_uc001iym.2_3'UTR|CREM_uc001iyn.2_Nonsense_Mutation_p.R81*|CREM_uc001iyo.2_3'UTR|CREM_uc001iyp.2_3'UTR|CREM_uc001iyq.2_Nonsense_Mutation_p.R85*|CREM_uc001iyr.2_3'UTR|CREM_uc001iys.2_Nonsense_Mutation_p.R68*|CREM_uc001iyt.2_3'UTR	p.R272*	NM_181571	NP_853549	Q03060	CREM_HUMAN			8	976	+			333			Leucine-zipper (By similarity).		A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Nonsense_Mutation	SNP	ENST00000395895.2	37	c.814C>T		.	.	.	.	.	.	.	.	.	.	C	14.89	2.670438	0.47781	.	.	ENSG00000095794	ENST00000474362;ENST00000345491;ENST00000395895;ENST00000374728;ENST00000479070;ENST00000429130;ENST00000489627;ENST00000493508;ENST00000490263;ENST00000348787;ENST00000374722;ENST00000361599;ENST00000484283;ENST00000395887;ENST00000463314;ENST00000342105;ENST00000463960;ENST00000487763;ENST00000488328;ENST00000468236;ENST00000490511	.	.	.	5.95	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7657	15.2773	0.73750	0.0:0.933:0.0:0.067	.	.	.	.	X	68;272;333;193;284;317;177;126;242;193;305;242;191;254;110;217;166;93;81;97;85	.	ENSP00000341875:R217X	R	+	1	2	CREM	35540648	1.000000	0.71417	0.815000	0.32552	0.796000	0.44982	4.633000	0.61318	1.532000	0.49169	0.650000	0.86243	CGA		PASS	0.388	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001881		20	17	20	17	---	---	---	---
CREM	1390	broad.mit.edu	37	10	35500644	35500644	+	Silent	SNP	A	A	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:35500644A>C	ENST00000395895.2	+	10	1161	c.999A>C	c.(997-999)cgA>cgC	p.R333R	RP11-324I22.3_ENST00000602435.1_RNA|CREM_ENST00000374728.3_Silent_p.R193R|CREM_ENST00000487763.1_Silent_p.R93R|CREM_ENST00000429130.3_Silent_p.R317R|CREM_ENST00000345491.3_Silent_p.R272R|CREM_ENST00000479070.1_Silent_p.R284R|CREM_ENST00000488328.1_Silent_p.R81R|CREM_ENST00000473940.1_3'UTR|CREM_ENST00000395887.3_Silent_p.R254R|CREM_ENST00000484283.1_Silent_p.R191R|CREM_ENST00000463960.1_Silent_p.R166R|CREM_ENST00000356917.5_3'UTR|CREM_ENST00000342105.3_Silent_p.R217R|CREM_ENST00000354759.3_3'UTR|CREM_ENST00000333809.8_3'UTR|CREM_ENST00000344351.5_3'UTR|CREM_ENST00000474362.1_Silent_p.R68R|CREM_ENST00000468236.1_Silent_p.R97R|CREM_ENST00000460270.1_3'UTR|CREM_ENST00000374721.3_3'UTR|CREM_ENST00000361599.4_Silent_p.R242R|CREM_ENST00000348787.2_Silent_p.R193R|CREM_ENST00000463314.1_Silent_p.R110R|CREM_ENST00000490511.1_Silent_p.R85R|CREM_ENST00000439705.1_3'UTR			Q03060	CREM_HUMAN	cAMP responsive element modulator	333	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R254R(1)|p.R85R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						TGGAGAGCCGAGTTGCAGTGC	0.383																																						uc001iyb.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(814-816)CGA>CGC		cAMP responsive element modulator isoform a							86.0	92.0	90.0					10																	35500644		2203	4300	6503	SO:0001819	synonymous_variant	1390				cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:35500644A>C		CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.999A>C	10.37:g.35500644A>C						CREM_uc001ixy.2_Silent_p.R68R|CREM_uc001ixz.2_3'UTR|CREM_uc001iya.2_3'UTR|CREM_uc001iyc.2_Silent_p.R193R|CREM_uc001iyd.2_3'UTR|CREM_uc001iye.2_3'UTR|CREM_uc001iyf.2_Silent_p.R242R|CREM_uc001iyg.2_Silent_p.R179R|CREM_uc001iyh.2_Silent_p.R217R|CREM_uc001iyi.2_Silent_p.R154R|CREM_uc001iyj.2_Silent_p.R151R|CREM_uc001iyk.2_3'UTR|CREM_uc001iyl.2_Silent_p.R93R|CREM_uc001iym.2_3'UTR|CREM_uc001iyn.2_Silent_p.R81R|CREM_uc001iyo.2_3'UTR|CREM_uc001iyp.2_3'UTR|CREM_uc001iyq.2_Silent_p.R85R|CREM_uc001iyr.2_3'UTR|CREM_uc001iys.2_Silent_p.R68R|CREM_uc001iyt.2_3'UTR	p.R272R	NM_181571	NP_853549	Q03060	CREM_HUMAN			8	978	+			333			Leucine-zipper (By similarity).		A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Silent	SNP	ENST00000395895.2	37	c.816A>C																																																																																					PASS	0.383	CREM-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001881		21	16	21	16	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38343433	38343433	+	Missense_Mutation	SNP	T	T	A	rs150308253	byFrequency	TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:38343433T>A	ENST00000458705.2	+	5	536	c.378T>A	c.(376-378)aaT>aaA	p.N126K	ZNF33A_ENST00000469037.2_Missense_Mutation_p.N127K|ZNF33A_ENST00000432900.2_Missense_Mutation_p.N133K|ZNF33A_ENST00000374618.3_Missense_Mutation_p.N127K|ZNF33A_ENST00000307441.9_Missense_Mutation_p.N126K			Q06730	ZN33A_HUMAN	zinc finger protein 33A	126					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.N126K(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TACCATTTAATGTGGATGTAA	0.343																																						uc001izh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(376-378)AAT>AAA		zinc finger protein 33A isoform b							110.0	108.0	109.0					10																	38343433		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38343433T>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.378T>A	10.37:g.38343433T>A	ENSP00000387713:p.Asn126Lys					ZNF33A_uc001izg.2_Missense_Mutation_p.N127K|ZNF33A_uc010qev.1_Missense_Mutation_p.N133K|ZNF33A_uc001izi.1_Missense_Mutation_p.N127K	p.N126K	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	556	+			126					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.378T>A	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.635828	0.00806	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000277672;ENST00000307441	T;T;T;T	0.05717	3.43;3.4;3.4;3.4	1.68	-2.13	0.07144	.	1.650460	0.03822	N	0.267592	T	0.06690	0.0171	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.15930	0.004;0.003;0.001;0.015	B;B;B;B	0.18871	0.004;0.002;0.002;0.023	T	0.43081	-0.9413	10	0.66056	D	0.02	.	3.6243	0.08108	0.0:0.3314:0.362:0.3066	.	133;127;126;127	F6TH33;Q9H5I4;Q06730;F8WAJ5	.;.;ZN33A_HUMAN;.	K	127;133;126;127;126	ENSP00000363747:N127K;ENSP00000402467:N133K;ENSP00000387713:N126K;ENSP00000304268:N126K	ENSP00000277672:N127K	N	+	3	2	ZNF33A	38383439	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.694000	0.05115	-0.570000	0.06022	-0.386000	0.06593	AAT		PASS	0.343	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		24	24	24	24	---	---	---	---
SGMS1	259230	broad.mit.edu	37	10	52103495	52103495	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:52103495T>A	ENST00000361781.2	-	7	1339	c.380A>T	c.(379-381)cAg>cTg	p.Q127L	SGMS1_ENST00000361543.2_Missense_Mutation_p.Q127L|SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000492601.2_5'Flank	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	133					apoptotic process (GO:0006915)|cell growth (GO:0016049)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.Q127L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CATGGGGTACTGAGAGCGCTC	0.502																																						uc001jje.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(379-381)CAG>CTG		sphingomyelin synthase 1							101.0	100.0	100.0					10																	52103495		2203	4300	6503	SO:0001583	missense	259230				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr10:52103495T>A	AY280959	CCDS7240.1	10q11.2	2013-01-10	2007-03-16	2007-03-16	ENSG00000198964	ENSG00000198964	2.7.8.27	"""Sterile alpha motif (SAM) domain containing"""	29799	protein-coding gene	gene with protein product		611573	"""transmembrane protein 23"""	TMEM23		11841947, 14976195	Standard	NM_147156		Approved	MOB, MGC17342, SMS1	uc001jje.3	Q86VZ5	OTTHUMG00000018231	ENST00000361781.2:c.380A>T	10.37:g.52103495T>A	ENSP00000354829:p.Gln127Leu					SGMS1_uc010qhk.1_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.Q127L|SGMS1_uc010qhl.1_RNA	p.Q127L	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN			7	1334	-			133					Q68U43|Q6EKK0|Q75SP1	Missense_Mutation	SNP	ENST00000361781.2	37	c.380A>T	CCDS7240.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485076	0.44147	.	.	ENSG00000198964	ENST00000361781;ENST00000361543	T;T	0.44881	0.91;0.92	5.62	5.62	0.85841	.	0.166914	0.53938	D	0.000044	T	0.30448	0.0765	L	0.29908	0.895	0.49130	D	0.999758	P	0.37864	0.61	B	0.30716	0.119	T	0.18304	-1.0341	10	0.66056	D	0.02	-21.2955	13.8059	0.63230	0.0:0.0:0.0:1.0	.	133	Q86VZ5	SMS1_HUMAN	L	127	ENSP00000354829:Q127L;ENSP00000355235:Q127L	ENSP00000355235:Q127L	Q	-	2	0	SGMS1	51773501	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.025000	0.57225	2.141000	0.66446	0.528000	0.53228	CAG		PASS	0.502	SGMS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048074.2	NM_147156		33	49	33	49	---	---	---	---
MBL2	4153	broad.mit.edu	37	10	54529030	54529030	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:54529030G>A	ENST00000373968.3	-	3	414	c.350C>T	c.(349-351)aCa>aTa	p.T117I		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	117					acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)	p.T117I(1)		breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGCCATTTCTGTTTGCAGAGC	0.383																																						uc001jjt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(349-351)ACA>ATA		soluble mannose-binding lectin precursor							135.0	139.0	138.0					10																	54529030		2202	4300	6502	SO:0001583	missense	4153				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding	g.chr10:54529030G>A	AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"""Collectins"""	6922	protein-coding gene	gene with protein product		154545	"""mannose-binding lectin (protein C) 2, soluble (opsonic defect)"""	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.350C>T	10.37:g.54529030G>A	ENSP00000363079:p.Thr117Ile						p.T117I	NM_000242	NP_000233	P11226	MBL2_HUMAN			3	415	-			117					Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	ENST00000373968.3	37	c.350C>T	CCDS7247.1	.	.	.	.	.	.	.	.	.	.	G	9.740	1.164574	0.21538	.	.	ENSG00000165471	ENST00000373968	D	0.82803	-1.65	4.32	0.113	0.14631	.	2.102030	0.02193	N	0.061501	T	0.73450	0.3588	L	0.29908	0.895	0.09310	N	1	B	0.20052	0.041	B	0.19946	0.027	T	0.56541	-0.7962	10	0.45353	T	0.12	-0.1792	3.3315	0.07085	0.1992:0.0:0.4437:0.3571	.	117	P11226	MBL2_HUMAN	I	117	ENSP00000363079:T117I	ENSP00000363079:T117I	T	-	2	0	MBL2	54199036	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.516000	0.06282	0.025000	0.15241	-0.150000	0.13652	ACA		PASS	0.383	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048115.1	NM_000242		31	73	31	73	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582004	55582004	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:55582004G>T	ENST00000320301.6	-	33	5876	c.5482C>A	c.(5482-5484)Cct>Act	p.P1828T	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1830T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1759T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1805T|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1825T|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1788T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1828	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.P1828T(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ggaggtggagggcaaggaata	0.478										HNSCC(58;0.16)																												uc001jju.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(5482-5484)CCT>ACT		protocadherin 15 isoform CD1-4 precursor							117.0	106.0	110.0					10																	55582004		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582004G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5482C>A	10.37:g.55582004G>T	ENSP00000322604:p.Pro1828Thr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1825T|PCDH15_uc010qhw.1_Missense_Mutation_p.P1788T|PCDH15_uc010qhx.1_Missense_Mutation_p.P1759T|PCDH15_uc010qhy.1_Missense_Mutation_p.P1835T|PCDH15_uc010qhz.1_Missense_Mutation_p.P1830T|PCDH15_uc010qia.1_Missense_Mutation_p.P1808T|PCDH15_uc010qib.1_Missense_Mutation_p.P1805T	p.P1828T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5877	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1828			Poly-Pro.|Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5482C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393745	0.42410	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.60171	0.37;0.35;0.39;0.23;0.23;0.21	4.66	1.68	0.24146	.	.	.	.	.	T	0.37705	0.1013	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B	0.15141	0.012;0.012;0.012;0.012;0.012;0.012;0.012;0.012	B;B;B;B;B;B;B;B	0.14023	0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01	T	0.25257	-1.0137	9	0.41790	T	0.15	.	8.3724	0.32423	0.2785:0.0:0.7215:0.0	.	1805;1828;1830;1835;1759;1788;1825;1828	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	T	1788;1830;1805;1828;1825;1835;1759	ENSP00000378820:P1788T;ENSP00000354950:P1830T;ENSP00000378821:P1805T;ENSP00000322604:P1828T;ENSP00000378818:P1825T;ENSP00000412628:P1759T	ENSP00000322604:P1828T	P	-	1	0	PCDH15	55252010	0.000000	0.05858	0.001000	0.08648	0.535000	0.34838	-0.046000	0.11983	0.499000	0.27970	0.591000	0.81541	CCT		PASS	0.478	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		23	49	23	49	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582375	55582375	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:55582375C>A	ENST00000320301.6	-	33	5505	c.5111G>T	c.(5110-5112)aGg>aTg	p.R1704M	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1706M|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1635M|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1681M|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1701M|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1664M|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1704					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R1704M(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AACACAAGGCCTTGAAGGAGA	0.388										HNSCC(58;0.16)																												uc001jju.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(5110-5112)AGG>ATG		protocadherin 15 isoform CD1-4 precursor							100.0	99.0	100.0					10																	55582375		2203	4299	6502	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582375C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5111G>T	10.37:g.55582375C>A	ENSP00000322604:p.Arg1704Met	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1701M|PCDH15_uc010qhw.1_Missense_Mutation_p.R1664M|PCDH15_uc010qhx.1_Missense_Mutation_p.R1635M|PCDH15_uc010qhy.1_Missense_Mutation_p.R1711M|PCDH15_uc010qhz.1_Missense_Mutation_p.R1706M|PCDH15_uc010qia.1_Missense_Mutation_p.R1684M|PCDH15_uc010qib.1_Missense_Mutation_p.R1681M	p.R1704M	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5506	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1704			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5111G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	8.593	0.885017	0.17540	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.57752	0.42;0.38;0.43;0.4;0.39;0.41	4.78	-1.95	0.07548	.	.	.	.	.	T	0.23410	0.0566	N	0.04880	-0.145	0.09310	N	1	B;B;B;B;B;B;B;B	0.12630	0.001;0.001;0.001;0.001;0.006;0.001;0.002;0.001	B;B;B;B;B;B;B;B	0.14578	0.002;0.003;0.003;0.003;0.011;0.003;0.002;0.003	T	0.14559	-1.0468	9	0.31617	T	0.26	.	1.8416	0.03151	0.1433:0.2152:0.4045:0.237	.	1681;1704;1706;1711;1635;1664;1701;1704	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	M	1664;1706;1681;1704;1701;1711;1635	ENSP00000378820:R1664M;ENSP00000354950:R1706M;ENSP00000378821:R1681M;ENSP00000322604:R1704M;ENSP00000378818:R1701M;ENSP00000412628:R1635M	ENSP00000322604:R1704M	R	-	2	0	PCDH15	55252381	0.468000	0.25839	0.001000	0.08648	0.151000	0.21798	1.034000	0.30204	0.030000	0.15379	0.467000	0.42956	AGG		PASS	0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		19	35	19	35	---	---	---	---
TMEM26	219623	broad.mit.edu	37	10	63212657	63212657	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:63212657G>A	ENST00000399298.3	-	1	551	c.183C>T	c.(181-183)ggC>ggT	p.G61G	TMEM26_ENST00000399293.1_Silent_p.G61G|RP11-809M12.1_ENST00000389640.4_RNA	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	61						integral component of membrane (GO:0016021)		p.G61G(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					ACCATTTGTAGCCTCTGCCGC	0.632																																						uc001jlo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(181-183)GGC>GGT		transmembrane protein 26							71.0	80.0	77.0					10																	63212657		1986	4164	6150	SO:0001819	synonymous_variant	219623					integral to membrane		g.chr10:63212657G>A	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.183C>T	10.37:g.63212657G>A						TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA|uc001jlr.2_RNA	p.G61G	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			1	552	-	Prostate(12;0.0112)		61					Q6ZVM0|Q8IVN9	Silent	SNP	ENST00000399298.3	37	c.183C>T	CCDS41530.1																																																																																				PASS	0.632	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		46	55	46	55	---	---	---	---
PPP3CB	5532	broad.mit.edu	37	10	75231333	75231333	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:75231333T>C	ENST00000360663.5	-	5	673	c.562A>G	c.(562-564)Atg>Gtg	p.M188V	PPP3CB_ENST00000545874.1_Missense_Mutation_p.M102V|PPP3CB_ENST00000394828.2_Missense_Mutation_p.M188V|PPP3CB_ENST00000495897.1_5'UTR|PPP3CB_ENST00000342558.3_Missense_Mutation_p.M188V|PPP3CB_ENST00000394829.2_Missense_Mutation_p.M188V|PPP3CB_ENST00000394822.2_Missense_Mutation_p.M206V			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	188	Catalytic.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)	p.M188V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					AAAGCTTCCATACAAGCTTCA	0.338																																						uc001jue.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(562-564)ATG>GTG		protein phosphatase 3, catalytic subunit, beta							101.0	102.0	102.0					10																	75231333		2203	4300	6503	SO:0001583	missense	5532							g.chr10:75231333T>C	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.562A>G	10.37:g.75231333T>C	ENSP00000353881:p.Met188Val					PPP3CB_uc001juf.2_Missense_Mutation_p.M188V|PPP3CB_uc001jug.2_Missense_Mutation_p.M188V|PPP3CB_uc001jui.2_Missense_Mutation_p.M206V|PPP3CB_uc001juh.2_Missense_Mutation_p.M102V	p.M188V	NM_021132	NP_066955	P16298	PP2BB_HUMAN			5	697	-	Prostate(51;0.0119)		188			Catalytic.		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.562A>G	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379689	0.61845	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000342558;ENST00000545874;ENST00000394822	D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	5.56	5.56	0.83823	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.052082	0.85682	D	0.000000	D	0.88687	0.6504	L	0.39633	1.23	0.80722	D	1	D;D;P;D;D	0.65815	0.995;0.988;0.954;0.977;0.995	D;P;B;P;D	0.65443	0.911;0.582;0.335;0.901;0.935	D	0.89585	0.3823	10	0.62326	D	0.03	.	16.002	0.80301	0.0:0.0:0.0:1.0	.	206;102;188;188;188	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	V	188;188;188;188;102;206	ENSP00000353881:M188V;ENSP00000378306:M188V;ENSP00000378305:M188V;ENSP00000343147:M188V;ENSP00000439876:M102V;ENSP00000378299:M206V	ENSP00000343147:M188V	M	-	1	0	PPP3CB	74901339	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.997000	0.88414	2.241000	0.73720	0.533000	0.62120	ATG		PASS	0.338	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		17	61	17	61	---	---	---	---
LDB3	11155	broad.mit.edu	37	10	88451677	88451677	+	Silent	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:88451677C>A	ENST00000361373.4	+	5	735	c.714C>A	c.(712-714)gcC>gcA	p.A238A	LDB3_ENST00000263066.6_Silent_p.A191A|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000310944.6_Silent_p.A238A|LDB3_ENST00000372056.4_Silent_p.A306A|LDB3_ENST00000429277.2_Silent_p.A306A|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000458213.2_Silent_p.A191A|LDB3_ENST00000372066.3_Silent_p.A191A	NM_007078.2	NP_009009.1			LIM domain binding 3									p.A306A(2)|p.A238A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGGACCTTGCCGTAGACAGCG	0.607																																						uc001kdv.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(712-714)GCC>GCA		LIM domain binding 3 isoform 1							130.0	124.0	126.0					10																	88451677		2203	4300	6503	SO:0001819	synonymous_variant	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88451677C>A	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.714C>A	10.37:g.88451677C>A						LDB3_uc010qml.1_Silent_p.A238A|LDB3_uc010qmm.1_Silent_p.A306A|LDB3_uc001kdu.2_Silent_p.A191A|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Silent_p.A191A|LDB3_uc009xsy.2_Silent_p.A306A|LDB3_uc001kds.2_Silent_p.A238A|LDB3_uc001kdt.2_RNA	p.A238A	NM_007078	NP_009009	O75112	LDB3_HUMAN			5	737	+			238						Silent	SNP	ENST00000361373.4	37	c.714C>A	CCDS7377.1																																																																																				PASS	0.607	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			29	59	29	59	---	---	---	---
NUTM2A	728118	broad.mit.edu	37	10	88985864	88985864	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:88985864G>A	ENST00000381707.2	+	1	660	c.277G>A	c.(277-279)Ggt>Agt	p.G93S	NUTM2A-AS1_ENST00000451940.2_RNA|NUTM2A_ENST00000381689.4_Missense_Mutation_p.G93S	NM_001099338.1	NP_001092808.1	Q8IVF1	NTM2A_HUMAN	NUT family member 2A	93								p.G20S(1)|p.G93S(1)									AGGAGCATCTGGTGAGCCAGG	0.542																																						uc001kek.2																			2	Substitution - Missense(2)		lung(2)		0						c.(277-279)GGT>AGT		hypothetical protein LOC728118							23.0	13.0	19.0					10																	88985864		542	325	867	SO:0001583	missense	728118							g.chr10:88985864G>A		CCDS44452.1	10q23.2	2013-03-15	2013-03-14	2013-03-14	ENSG00000184923	ENSG00000184923			23438	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member A"""	FAM22A			Standard	NM_001099338		Approved		uc001kek.3	Q8IVF1	OTTHUMG00000018670	ENST00000381707.2:c.277G>A	10.37:g.88985864G>A	ENSP00000371126:p.Gly93Ser					LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	p.G93S	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN			1	660	+			93					A6NMX5|C9JDI1|Q5VZW1	Missense_Mutation	SNP	ENST00000381707.2	37	c.277G>A	CCDS44452.1	.	.	.	.	.	.	.	.	.	.	g	1.374	-0.585278	0.03827	.	.	ENSG00000184923	ENST00000381689;ENST00000381707;ENST00000416901	T;T	0.35973	1.28;2.13	0.874	-0.284	0.12870	.	.	.	.	.	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.13407	0.009	T	0.27673	-1.0067	9	0.20519	T	0.43	.	4.1353	0.10167	0.0:0.0:0.5988:0.4012	.	93	Q8IVF1	FA22A_HUMAN	S	93;93;20	ENSP00000371107:G93S;ENSP00000371126:G93S	ENSP00000371107:G93S	G	+	1	0	FAM22A	88975844	0.037000	0.19845	0.023000	0.16930	0.069000	0.16628	0.354000	0.20146	0.009000	0.14813	-1.217000	0.01609	GGT		PASS	0.542	NUTM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049198.2	NM_001099338		29	10	29	10	---	---	---	---
CNNM1	26507	broad.mit.edu	37	10	101090567	101090567	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:101090567A>G	ENST00000356713.4	+	1	1712	c.1423A>G	c.(1423-1425)Att>Gtt	p.I475V	CNNM1_ENST00000370534.4_Missense_Mutation_p.I110V|CNNM1_ENST00000370528.3_Missense_Mutation_p.I404V|CNNM1_ENST00000446890.1_Missense_Mutation_p.I404V	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	475	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.I110V(1)|p.I475V(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GCGGCACAACATTGTGGACAT	0.607																																						uc001kpp.3																			2	Substitution - Missense(2)		lung(2)		0						c.(1423-1425)ATT>GTT		cyclin M1							89.0	72.0	78.0					10																	101090567		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101090567A>G	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1423A>G	10.37:g.101090567A>G	ENSP00000349147:p.Ile475Val					CNNM1_uc009xwe.2_Missense_Mutation_p.I475V|CNNM1_uc010qpi.1_Missense_Mutation_p.I475V|CNNM1_uc009xwf.2_Missense_Mutation_p.I475V	p.I475V	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	1	1712	+		Colorectal(252;0.234)	475			CBS 1.		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.1423A>G	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129708	0.37630	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	4.54	4.54	0.55810	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	T	0.78368	0.4272	L	0.54323	1.7	0.58432	D	0.999999	P;P;B;P	0.39551	0.65;0.678;0.369;0.513	P;P;B;B	0.50617	0.449;0.646;0.412;0.262	T	0.78135	-0.2322	10	0.41790	T	0.15	-18.9853	14.0286	0.64601	1.0:0.0:0.0:0.0	.	110;475;110;475	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	V	475;404;404;110	ENSP00000349147:I475V;ENSP00000406492:I404V;ENSP00000359559:I404V;ENSP00000359565:I110V	ENSP00000349147:I475V	I	+	1	0	CNNM1	101080557	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.380000	0.79704	1.902000	0.55061	0.379000	0.24179	ATT		PASS	0.607	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		18	20	18	20	---	---	---	---
SLC25A28	81894	broad.mit.edu	37	10	101371025	101371025	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:101371025G>A	ENST00000370495.4	-	4	704	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	226					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R226C(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		GTGTAGCTGCGGTAAAAGGCC	0.532																																						uc001kpx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)CGC>TGC		solute carrier family 25, member 28							68.0	71.0	70.0					10																	101371025		2024	4168	6192	SO:0001583	missense	81894				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr10:101371025G>A	AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.676C>T	10.37:g.101371025G>A	ENSP00000359526:p.Arg226Cys					SLC25A28_uc001kpy.2_Missense_Mutation_p.R39C	p.R226C	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	4	805	-		Colorectal(252;0.234)	226			Solcar 2.		Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	Missense_Mutation	SNP	ENST00000370495.4	37	c.676C>T	CCDS41559.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074174	0.76415	.	.	ENSG00000155287	ENST00000434701;ENST00000370495	D;D	0.82344	-1.6;-1.6	5.41	5.41	0.78517	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94115	0.8113	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95265	0.8372	10	0.66056	D	0.02	-31.1746	14.2424	0.65966	0.0:0.0:0.8511:0.1489	.	226	Q96A46	MFRN2_HUMAN	C	87;226	ENSP00000399102:R87C;ENSP00000359526:R226C	ENSP00000359526:R226C	R	-	1	0	SLC25A28	101361015	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.298000	0.78815	2.815000	0.96918	0.561000	0.74099	CGC		PASS	0.532	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049801.1	NM_031212		28	52	28	52	---	---	---	---
CUTC	51076	broad.mit.edu	37	10	101514391	101514391	+	Splice_Site	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:101514391G>A	ENST00000370476.5	+	8	836	c.707G>A	c.(706-708)cGa>cAa	p.R236Q		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	236					copper ion homeostasis (GO:0055070)|copper ion transport (GO:0006825)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	copper ion binding (GO:0005507)	p.R236Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		ATGAAGTTTCGGTAAAAATGT	0.378																																						uc001kqd.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(706-708)CGA>CAA		cutC copper transporter homolog							132.0	139.0	137.0					10																	101514391		2203	4300	6503	SO:0001630	splice_region_variant	51076				copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding	g.chr10:101514391G>A	AF132966	CCDS7483.1	10q24.31	2013-07-31	2013-07-31		ENSG00000119929	ENSG00000119929			24271	protein-coding gene	gene with protein product		610101	"""cutC copper transporter homolog (E. coli)"""			16182249	Standard	NM_015960		Approved	CGI-32	uc001kqd.4	Q9NTM9	OTTHUMG00000018889	ENST00000370476.5:c.707+1G>A	10.37:g.101514391G>A						CUTC_uc001kqe.3_RNA	p.R236Q	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN		Epithelial(162;3e-10)|all cancers(201;2.37e-08)	8	855	+		Colorectal(252;0.234)	236					Q5TCZ8|Q9Y321	Missense_Mutation	SNP	ENST00000370476.5	37	c.707G>A	CCDS7483.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003304	0.93287	.	.	ENSG00000119929	ENST00000370476	.	.	.	5.31	5.31	0.75309	Copper homeostasis CutC domain (2);	0.000000	0.85682	D	0.000000	T	0.62196	0.2408	M	0.86178	2.8	0.80722	D	1	P	0.52692	0.955	B	0.37387	0.248	T	0.73291	-0.4029	9	0.56958	D	0.05	-6.188	18.6076	0.91272	0.0:0.0:1.0:0.0	.	236	Q9NTM9	CUTC_HUMAN	Q	236	.	ENSP00000359507:R236Q	R	+	2	0	CUTC	101504381	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	8.889000	0.92470	2.481000	0.83766	0.650000	0.86243	CGA		PASS	0.378	CUTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049811.1	NM_015960	Missense_Mutation	38	96	38	96	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106737162	106737162	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:106737162C>A	ENST00000369701.3	+	4	1092	c.865C>A	c.(865-867)Cag>Aag	p.Q289K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	289					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.Q289K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGCGACCTATCAGAAGTATCG	0.458																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(865-867)CAG>AAG		VPS10 domain receptor protein SORCS 3 precursor							130.0	111.0	118.0					10																	106737162		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106737162C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.865C>A	10.37:g.106737162C>A	ENSP00000358715:p.Gln289Lys						p.Q289K	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	4	1092	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	289			BNR 2.|Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.865C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730029	0.89390	.	.	ENSG00000156395	ENST00000369701	T	0.39229	1.09	5.6	5.6	0.85130	VPS10 (1);	0.126920	0.53938	D	0.000050	T	0.59321	0.2185	M	0.68317	2.08	0.80722	D	1	D	0.59357	0.985	P	0.55161	0.77	T	0.61564	-0.7037	10	0.66056	D	0.02	.	19.6179	0.95643	0.0:1.0:0.0:0.0	.	289	Q9UPU3	SORC3_HUMAN	K	289	ENSP00000358715:Q289K	ENSP00000358715:Q289K	Q	+	1	0	SORCS3	106727152	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	7.818000	0.86416	2.653000	0.90120	0.563000	0.77884	CAG		PASS	0.458	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		18	31	18	31	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108339127	108339127	+	Splice_Site	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:108339127C>A	ENST00000263054.6	-	25	3378	c.3371G>T	c.(3370-3372)aGg>aTg	p.R1124M	SORCS1_ENST00000369698.1_Splice_Site_p.R659M|SORCS1_ENST00000344440.6_Splice_Site_p.R1124M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1124					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R1124M(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGACACGCACCTTTTAAACTT	0.532																																						uc001kym.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(3370-3372)AGG>ATG		SORCS receptor 1 isoform a							140.0	101.0	114.0					10																	108339127		2203	4300	6503	SO:0001630	splice_region_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108339127C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3371+1G>T	10.37:g.108339127C>A						SORCS1_uc001kyl.2_Missense_Mutation_p.R1124M|SORCS1_uc009xxs.2_Missense_Mutation_p.R1124M|SORCS1_uc001kyn.1_Missense_Mutation_p.R1124M|SORCS1_uc001kyo.2_Missense_Mutation_p.R1124M	p.R1124M	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	25	3379	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1124			Cytoplasmic (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.3371G>T	CCDS7559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.867959|4.867959	0.91587|0.91587	.|.	.|.	ENSG00000108018|ENSG00000108018	ENST00000452214|ENST00000369698;ENST00000263054;ENST00000344440	.|T;T;T	.|0.41758	.|0.99;1.52;1.4	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.64605	.|0.2613	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.83275	.|0.99;0.996;0.996;0.99;0.996	.|T	.|0.59273	.|-0.7485	.|9	.|.	.|.	.|.	-24.6029|-24.6029	20.3167|20.3167	0.98654|0.98654	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1124;1124;1124;1124;1124	.|A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.|.;.;.;SORC1_HUMAN;.	X|M	139|659;1124;1124	.|ENSP00000358712:R659M;ENSP00000263054:R1124M;ENSP00000345964:R1124M	.|.	G|R	-|-	1|2	0|0	SORCS1|SORCS1	108329117|108329117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.487000|7.487000	0.81328|0.81328	2.809000|2.809000	0.96659|0.96659	0.557000|0.557000	0.71058|0.71058	GGA|AGG		PASS	0.532	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	Missense_Mutation	10	35	10	35	---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112357972	112357972	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:112357972C>G	ENST00000361804.4	+	20	2318	c.2192C>G	c.(2191-2193)tCt>tGt	p.S731C		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	731					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.S731C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTTAAAGCATCTAGAGATAGC	0.348																																						uc001kze.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2191-2193)TCT>TGT		structural maintenance of chromosomes 3							132.0	141.0	138.0					10																	112357972		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112357972C>G	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2192C>G	10.37:g.112357972C>G	ENSP00000354720:p.Ser731Cys						p.S731C	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	20	2318	+		Breast(234;0.0848)|Lung NSC(174;0.238)	731			Potential.		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.2192C>G	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360316	0.82353	.	.	ENSG00000108055	ENST00000361804	T	0.77877	-1.13	5.55	5.55	0.83447	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.83788	0.5330	L	0.49571	1.57	0.80722	D	1	D	0.60575	0.988	P	0.58077	0.832	D	0.84121	0.0406	10	0.59425	D	0.04	.	19.8696	0.96845	0.0:1.0:0.0:0.0	.	731	Q9UQE7	SMC3_HUMAN	C	731	ENSP00000354720:S731C	ENSP00000354720:S731C	S	+	2	0	SMC3	112347962	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.360000	0.79487	2.773000	0.95371	0.585000	0.79938	TCT		PASS	0.348	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		55	104	55	104	---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120801831	120801831	+	Silent	SNP	C	C	A	rs371721985		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:120801831C>A	ENST00000369144.3	-	19	3328	c.3201G>T	c.(3199-3201)cgG>cgT	p.R1067R	EIF3A_ENST00000541549.1_Silent_p.R1033R	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.R1067R(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GCCTGGGACCCCGGTCATCAT	0.637																																						uc001ldu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3199-3201)CGG>CGT		eukaryotic translation initiation factor 3,							181.0	166.0	171.0					10																	120801831		2203	4300	6503	SO:0001819	synonymous_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801831C>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3201G>T	10.37:g.120801831C>A						EIF3A_uc010qsu.1_Silent_p.R1033R|EIF3A_uc009xzg.1_Silent_p.R106R	p.R1067R	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3347	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1067			15.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].		B7ZBG9|Q6IBN8|Q96TD5	Silent	SNP	ENST00000369144.3	37	c.3201G>T	CCDS7608.1																																																																																				PASS	0.637	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		67	137	67	137	---	---	---	---
PLEKHA1	59338	broad.mit.edu	37	10	124175428	124175428	+	Silent	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr10:124175428G>T	ENST00000368990.3	+	7	653	c.522G>T	c.(520-522)cgG>cgT	p.R174R	PLEKHA1_ENST00000433307.1_Silent_p.R174R|PLEKHA1_ENST00000368988.1_Silent_p.R174R|PLEKHA1_ENST00000368989.2_Silent_p.R174R|PLEKHA1_ENST00000538022.1_Silent_p.R174R|PLEKHA1_ENST00000494222.1_3'UTR|MIR3941_ENST00000582572.1_RNA	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	174					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)	p.R174R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATCTGAAACGGTCACAAAGCC	0.343																																						uc001lge.1																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(520-522)CGG>CGT		pleckstrin homology domain containing, family A							87.0	78.0	81.0					10																	124175428		2203	4300	6503	SO:0001819	synonymous_variant	59338				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	g.chr10:124175428G>T	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.522G>T	10.37:g.124175428G>T						PLEKHA1_uc001lgf.1_Silent_p.R174R|PLEKHA1_uc001lgg.1_Silent_p.R174R|PLEKHA1_uc001lgh.2_Silent_p.R174R	p.R174R	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN			7	645	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	174					B3KQ55|D3DRE2|Q9BVK0	Silent	SNP	ENST00000368990.3	37	c.522G>T	CCDS7629.1																																																																																				PASS	0.343	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		15	23	15	23	---	---	---	---
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2	Q61L(KNS62_LUNG)|Q61L(NCIH1915_LUNG)|Q61L(KYSE30_OESOPHAGUS)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		256	Substitution - Missense(256)	p.Q61R(112)|p.Q61L(93)|p.Q61K(39)|p.Q61H(20)|p.Q61P(3)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749						c.(181-183)CAG>CGG		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.Q61R|HRAS_uc010qvx.1_Missense_Mutation_p.Q61R|HRAS_uc010qvy.1_RNA	p.Q61R	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	370	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61	Q->V: Strongly increased transformation of cultured cell lines.|Q->I: Moderately increased transformation of cultured cell lines.	Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		PASS	0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		4	54	4	54	---	---	---	---
NAP1L4	4676	broad.mit.edu	37	11	2985954	2985954	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:2985954G>A	ENST00000380542.4	-	8	702	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	NAP1L4_ENST00000526115.1_Silent_p.L188L|SNORA54_ENST00000384281.1_RNA	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	188					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.L188L(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		ATATCCTGCAGGTGTTTCAAG	0.398																																						uc001lxc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(562-564)CTG>TTG		nucleosome assembly protein 1-like 4							81.0	77.0	79.0					11																	2985954		1832	4088	5920	SO:0001819	synonymous_variant	4676				nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	g.chr11:2985954G>A	AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.562C>T	11.37:g.2985954G>A						NAP1L4_uc010qxm.1_Silent_p.L188L|NAP1L4_uc010qxn.1_Silent_p.L188L|SNORA54_uc001lxd.1_5'Flank	p.L188L	NM_005969	NP_005960	Q99733	NP1L4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	8	703	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	188					B2R6J4|F5HFY4	Silent	SNP	ENST00000380542.4	37	c.562C>T	CCDS41599.1																																																																																				PASS	0.398	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969		7	10	7	10	---	---	---	---
OR52N2	390077	broad.mit.edu	37	11	5842195	5842195	+	Silent	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:5842195G>T	ENST00000317037.2	+	1	652	c.630G>T	c.(628-630)gtG>gtT	p.V210V	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V210V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATTGGTGTGTTTGATATCT	0.458																																						uc010qzp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(628-630)GTG>GTT		olfactory receptor, family 52, subfamily N,							461.0	397.0	419.0					11																	5842195		2201	4296	6497	SO:0001819	synonymous_variant	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5842195G>T	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.630G>T	11.37:g.5842195G>T						TRIM5_uc001mbq.1_Intron	p.V210V	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	630	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	210			Helical; Name=5; (Potential).		Q6IFF9	Silent	SNP	ENST00000317037.2	37	c.630G>T	CCDS31399.1																																																																																				PASS	0.458	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		69	61	69	61	---	---	---	---
CTR9	9646	broad.mit.edu	37	11	10785972	10785972	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:10785972G>T	ENST00000361367.2	+	11	1828	c.1402G>T	c.(1402-1404)Ggg>Tgg	p.G468W		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	468					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.G468W(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGAAACCTAGGGGAGGCTAA	0.388																																						uc001mja.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1402-1404)GGG>TGG		SH2 domain binding protein 1							87.0	89.0	88.0					11																	10785972		2201	4294	6495	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10785972G>T	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1402G>T	11.37:g.10785972G>T	ENSP00000355013:p.Gly468Trp						p.G468W	NM_014633	NP_055448	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	11	1551	+			468			TPR 9.		D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.1402G>T	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084374	0.76642	.	.	ENSG00000198730	ENST00000361367	D	0.88354	-2.37	5.88	5.88	0.94601	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	D	0.91746	0.5408	10	0.72032	D	0.01	-18.3619	20.2187	0.98312	0.0:0.0:1.0:0.0	.	468	Q6PD62	CTR9_HUMAN	W	468	ENSP00000355013:G468W	ENSP00000355013:G468W	G	+	1	0	CTR9	10742548	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	9.838000	0.99474	2.780000	0.95670	0.655000	0.94253	GGG		PASS	0.388	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633		27	26	27	26	---	---	---	---
NELL1	4745	broad.mit.edu	37	11	20699477	20699477	+	Splice_Site	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:20699477G>A	ENST00000357134.5	+	2	207		c.e2-1		NELL1_ENST00000325319.5_Splice_Site|NELL1_ENST00000298925.5_Splice_Site|NELL1_ENST00000532434.1_Splice_Site	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.?(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTCCTTTCCAGTGGTGGGCTT	0.498																																						uc001mqe.2																			1	Unknown(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.e2-1		nel-like 1 isoform 1 precursor							153.0	143.0	146.0					11																	20699477		2203	4300	6503	SO:0001630	splice_region_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20699477G>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.56-1G>A	11.37:g.20699477G>A						NELL1_uc001mqf.2_Splice_Site_p.V19_splice|NELL1_uc009yid.2_Splice_Site_p.V47_splice|NELL1_uc010rdo.1_Splice_Site_p.V19_splice|NELL1_uc010rdp.1_Splice_Site	p.V19_splice	NM_006157	NP_006148	Q92832	NELL1_HUMAN			2	209	+								B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Splice_Site	SNP	ENST00000357134.5	37	c.56_splice	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188415	0.78789	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	6.11	6.11	0.99139	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5057	0.95114	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NELL1	20656053	1.000000	0.71417	0.993000	0.49108	0.796000	0.44982	7.926000	0.87569	2.906000	0.99361	0.655000	0.94253	.		PASS	0.498	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	Intron	28	16	28	16	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	31312327	31312327	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:31312327C>A	ENST00000452803.1	-	7	1028	c.827G>T	c.(826-828)cGg>cTg	p.R276L	DCDC1_ENST00000597505.1_Missense_Mutation_p.R276L	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	276					intracellular signal transduction (GO:0035556)			p.R276Q(1)|p.R276L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTTGGTTTTCCGTCTTTTGAT	0.378																																						uc001msv.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(826-828)CGG>CTG		doublecortin domain containing 1							92.0	91.0	92.0					11																	31312327		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31312327C>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.827G>T	11.37:g.31312327C>A	ENSP00000389792:p.Arg276Leu					DCDC1_uc001msu.1_Intron	p.R276L	NM_181807	NP_861523	P59894	DCDC1_HUMAN			7	1029	-	Lung SC(675;0.225)		276					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.827G>T	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719427	0.30503	.	.	ENSG00000188682	ENST00000452803	T	0.33216	1.42	5.36	-5.26	0.02772	.	0.731524	0.11624	N	0.545494	T	0.23014	0.0556	L	0.36672	1.1	0.09310	N	0.999999	B	0.26512	0.151	B	0.25987	0.065	T	0.06752	-1.0809	10	0.54805	T	0.06	-2.0528	14.2039	0.65721	0.0:0.2993:0.0:0.7007	.	276	P59894	DCDC1_HUMAN	L	276	ENSP00000389792:R276L	ENSP00000389792:R276L	R	-	2	0	DCDC1	31268903	0.252000	0.23972	0.335000	0.25508	0.983000	0.72400	-0.577000	0.05847	-1.642000	0.01521	-0.137000	0.14449	CGG		PASS	0.378	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		29	21	29	21	---	---	---	---
API5	8539	broad.mit.edu	37	11	43344985	43344985	+	Silent	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:43344985A>T	ENST00000531273.1	+	6	688	c.549A>T	c.(547-549)ctA>ctT	p.L183L	API5_ENST00000378852.3_Silent_p.L183L|API5_ENST00000534600.1_Silent_p.L183L|API5_ENST00000455725.2_Silent_p.L172L|API5_ENST00000420461.2_Silent_p.L129L|API5_ENST00000534695.1_Intron			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	183	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.L183L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TCCAGGTCCTAGAAGATGTGA	0.358																																					Pancreas(1;98 122 5625 20895 49453)	uc010rfh.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(547-549)CTA>CTT		apoptosis inhibitor 5 isoform a							64.0	62.0	63.0					11																	43344985		2203	4300	6503	SO:0001819	synonymous_variant	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43344985A>T	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.549A>T	11.37:g.43344985A>T						API5_uc010rfg.1_Silent_p.L172L|API5_uc001mxf.2_Silent_p.L183L|API5_uc010rfi.1_Silent_p.L129L|API5_uc001mxg.2_Silent_p.L57L	p.L183L	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN			6	722	+			183					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Silent	SNP	ENST00000531273.1	37	c.549A>T	CCDS44572.1																																																																																				PASS	0.358	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		15	11	15	11	---	---	---	---
CHRM4	1132	broad.mit.edu	37	11	46407307	46407307	+	Silent	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:46407307C>G	ENST00000433765.2	-	1	800	c.801G>C	c.(799-801)ctG>ctC	p.L267L		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	267					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.L267L(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGCCATTGCGCAGCTCCTCCC	0.662																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(799-801)CTG>CTC		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						13.0	15.0	15.0					11																	46407307		1900	4075	5975	SO:0001819	synonymous_variant	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407307C>G	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.801G>C	11.37:g.46407307C>G							p.L267L	NM_000741	NP_000732	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	801	-			267			Cytoplasmic (By similarity).		B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	ENST00000433765.2	37	c.801G>C	CCDS44581.1																																																																																				PASS	0.662	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		4	14	4	14	---	---	---	---
OR4C12	283093	broad.mit.edu	37	11	50003963	50003963	+	Silent	SNP	C	C	A	rs372225981	byFrequency	TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:50003963C>A	ENST00000335238.4	-	1	108	c.75G>T	c.(73-75)acG>acT	p.T25T		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T25T(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATACTACAAACGTGACTTTCT	0.408																																						uc010ria.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(73-75)ACG>ACT		olfactory receptor, family 4, subfamily C,							63.0	61.0	62.0					11																	50003963		2201	4296	6497	SO:0001819	synonymous_variant	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003963C>A	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.75G>T	11.37:g.50003963C>A							p.T25T	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	75	-			25			Helical; Name=1; (Potential).		B2RNF0|Q6IF49	Silent	SNP	ENST00000335238.4	37	c.75G>T	CCDS31496.1																																																																																				PASS	0.408	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		9	49	9	49	---	---	---	---
OR5D16	390144	broad.mit.edu	37	11	55606555	55606555	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:55606555G>C	ENST00000378396.1	+	1	328	c.328G>C	c.(328-330)Gta>Cta	p.V110L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V110L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTGCACCTTTGTAGTGACTGA	0.433																																						uc010rio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(328-330)GTA>CTA		olfactory receptor, family 5, subfamily D,							137.0	134.0	135.0					11																	55606555		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606555G>C	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.328G>C	11.37:g.55606555G>C	ENSP00000367649:p.Val110Leu						p.V110L	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	328	+		all_epithelial(135;0.208)	110			Helical; Name=3; (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.328G>C	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	14.06	2.423991	0.43020	.	.	ENSG00000205029	ENST00000378396	T	0.01335	5.0	4.47	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02342	0.0072	L	0.41027	1.25	0.22903	N	0.998588	B	0.24823	0.112	B	0.34180	0.177	T	0.43081	-0.9413	9	0.37606	T	0.19	-20.0319	12.8008	0.57584	0.0:0.0:0.8347:0.1653	.	110	Q8NGK9	OR5DG_HUMAN	L	110	ENSP00000367649:V110L	ENSP00000367649:V110L	V	+	1	0	OR5D16	55363131	0.000000	0.05858	0.117000	0.21633	0.941000	0.58515	0.649000	0.24843	1.019000	0.39547	0.530000	0.56133	GTA		PASS	0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		35	120	35	120	---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703463	55703463	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:55703463C>T	ENST00000301532.3	-	1	413	c.414G>A	c.(412-414)atG>atA	p.M138I		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	138					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.M138I(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						TGCCCCTAGACATCACAACTG	0.443																																						uc010ris.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(412-414)ATG>ATA		olfactory receptor, family 5, subfamily I,							77.0	79.0	78.0					11																	55703463		2201	4295	6496	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703463C>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.414G>A	11.37:g.55703463C>T	ENSP00000301532:p.Met138Ile						p.M138I	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	414	-			138			Cytoplasmic (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.414G>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.312046	0.60414	.	.	ENSG00000167825	ENST00000301532	T	0.00551	6.65	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.02047	0.0064	M	0.78801	2.425	0.30820	N	0.737919	P	0.50528	0.936	P	0.61201	0.885	T	0.02471	-1.1154	10	0.72032	D	0.01	.	16.0308	0.80577	0.0:1.0:0.0:0.0	.	138	Q13606	OR5I1_HUMAN	I	138	ENSP00000301532:M138I	ENSP00000301532:M138I	M	-	3	0	OR5I1	55460039	0.986000	0.35501	0.847000	0.33407	0.436000	0.31835	2.681000	0.46926	2.433000	0.82419	0.637000	0.83480	ATG		PASS	0.443	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		9	22	9	22	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761731	55761731	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:55761731G>T	ENST00000278409.1	-	1	370	c.371C>A	c.(370-372)gCg>gAg	p.A124E		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	124					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A124E(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ACATATGGCCGCATACCTGTC	0.507																																						uc010riv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(370-372)GCG>GAG		olfactory receptor, family 5, subfamily F,							65.0	65.0	65.0					11																	55761731		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761731G>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.371C>A	11.37:g.55761731G>T	ENSP00000278409:p.Ala124Glu						p.A124E	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	371	-	Esophageal squamous(21;0.00448)		124			Cytoplasmic (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.371C>A	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	A	8.535	0.871985	0.17322	.	.	ENSG00000149133	ENST00000278409	T	0.01887	4.58	3.03	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04634	0.0126	M	0.75615	2.305	0.09310	N	0.999997	B	0.27498	0.18	B	0.31869	0.137	T	0.28808	-1.0032	9	0.87932	D	0	.	7.2206	0.25985	0.8833:0.0:0.1167:0.0	.	124	O95221	OR5F1_HUMAN	E	124	ENSP00000278409:A124E	ENSP00000278409:A124E	A	-	2	0	OR5F1	55518307	0.052000	0.20516	0.764000	0.31436	0.017000	0.09413	3.016000	0.49607	0.221000	0.20879	-0.891000	0.02926	GCG		PASS	0.507	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		6	40	6	40	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043272	56043272	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:56043272G>T	ENST00000313033.2	+	1	244	c.158G>T	c.(157-159)gGc>gTc	p.G53V		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G53V(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ACTCTAATAGGCAATTTAGGG	0.348																																						uc001nio.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(157-159)GGC>GTC		olfactory receptor, family 5, subfamily T,							75.0	76.0	75.0					11																	56043272		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043272G>T	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.158G>T	11.37:g.56043272G>T	ENSP00000323612:p.Gly53Val						p.G53V	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	158	+	Esophageal squamous(21;0.00448)		53			Helical; Name=1; (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.158G>T	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817653	0.50633	.	.	ENSG00000181698	ENST00000313033	T	0.04406	3.63	3.63	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.167587	0.28182	N	0.016300	T	0.30386	0.0763	H	0.96398	3.815	0.39852	D	0.973255	D	0.53885	0.963	D	0.65010	0.931	T	0.53387	-0.8446	10	0.87932	D	0	.	14.4002	0.67037	0.0:0.0:1.0:0.0	.	53	Q8NG75	OR5T1_HUMAN	V	53	ENSP00000323612:G53V	ENSP00000323612:G53V	G	+	2	0	OR5T1	55799848	0.064000	0.20934	0.175000	0.22980	0.017000	0.09413	1.556000	0.36288	2.030000	0.59900	0.471000	0.43371	GGC		PASS	0.348	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		12	56	12	56	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043836	56043837	+	Missense_Mutation	DNP	AG	AG	CT			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:56043836_56043837AG>CT	ENST00000313033.2	+	1	808_809	c.722_723AG>CT	c.(721-723)cAG>cCT	p.Q241P		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q241P(2)|p.Q241H(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTGAAGATGCAGTCTGCTGAAG	0.426																																						uc001nio.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|pancreas(1)	3						c.(721-723)CAG>CCG|c.(721-723)CAG>CAT		olfactory receptor, family 5, subfamily T,																																				SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043836A>C|g.chr11:56043837G>T	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	Exception_encountered	11.37:g.56043836_56043837delinsCT	ENSP00000323612:p.Gln241Pro						p.Q241P|p.Q241H	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	722|723	+	Esophageal squamous(21;0.00448)		241			Cytoplasmic (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.722A>C|c.723G>T	CCDS31525.1																																																																																				PASS	0.426	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		49|51	83|84	49	83	---	---	---	---
OR5M9	390162	broad.mit.edu	37	11	56230024	56230024	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:56230024G>T	ENST00000279791.1	-	1	853	c.854C>A	c.(853-855)cCc>cAc	p.P285H		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P285H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					GTAGATCATGGGATTCAACAT	0.423																																						uc010rjj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(853-855)CCC>CAC		olfactory receptor, family 5, subfamily M,							121.0	107.0	112.0					11																	56230024		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230024G>T	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.854C>A	11.37:g.56230024G>T	ENSP00000279791:p.Pro285His						p.P285H	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	854	-	Esophageal squamous(21;0.00448)		285			Helical; Name=7; (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.854C>A	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525307	0.44969	.	.	ENSG00000150269	ENST00000279791	T	0.64260	-0.09	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	D	0.000655	D	0.84977	0.5592	H	0.97103	3.94	0.46279	D	0.998965	D	0.89917	1.0	D	0.70227	0.968	D	0.90252	0.4294	10	0.87932	D	0	-17.9598	14.5887	0.68347	0.0:0.0:1.0:0.0	.	285	Q8NGP3	OR5M9_HUMAN	H	285	ENSP00000279791:P285H	ENSP00000279791:P285H	P	-	2	0	OR5M9	55986600	1.000000	0.71417	0.977000	0.42913	0.092000	0.18411	9.208000	0.95075	2.102000	0.63906	0.542000	0.68232	CCC		PASS	0.423	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		15	61	15	61	---	---	---	---
OR5M9	390162	broad.mit.edu	37	11	56230412	56230412	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:56230412T>C	ENST00000279791.1	-	1	465	c.466A>G	c.(466-468)Ata>Gta	p.I156V		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I156V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AGTGTGCATATTAGGCTGACA	0.463																																						uc010rjj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(466-468)ATA>GTA		olfactory receptor, family 5, subfamily M,							94.0	96.0	96.0					11																	56230412		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230412T>C	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.466A>G	11.37:g.56230412T>C	ENSP00000279791:p.Ile156Val						p.I156V	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	466	-	Esophageal squamous(21;0.00448)		156			Helical; Name=4; (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.466A>G	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	T	1.439	-0.568265	0.03910	.	.	ENSG00000150269	ENST00000279791	T	0.36699	1.24	4.63	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000123	T	0.18964	0.0455	N	0.17800	0.525	0.09310	N	1	B	0.18741	0.03	B	0.29440	0.102	T	0.06041	-1.0849	10	0.34782	T	0.22	-12.1352	1.1828	0.01849	0.1819:0.1058:0.1889:0.5235	.	156	Q8NGP3	OR5M9_HUMAN	V	156	ENSP00000279791:I156V	ENSP00000279791:I156V	I	-	1	0	OR5M9	55986988	0.000000	0.05858	0.110000	0.21437	0.449000	0.32228	-0.338000	0.07842	1.847000	0.53656	0.443000	0.29094	ATA		PASS	0.463	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		31	43	31	43	---	---	---	---
OR5M1	390168	broad.mit.edu	37	11	56380693	56380693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:56380693C>A	ENST00000526538.1	-	1	285	c.286G>T	c.(286-288)Gga>Tga	p.G96*		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G96*(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GTGAAGCATCCAGCGTAGGAG	0.463																																						uc001nja.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(286-288)GGA>TGA		olfactory receptor, family 5, subfamily M,							155.0	143.0	147.0					11																	56380693		1941	4141	6082	SO:0001587	stop_gained	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380693C>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.286G>T	11.37:g.56380693C>A	ENSP00000435416:p.Gly96*						p.G96*	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	286	-			96			Extracellular (Potential).		Q6IF60|Q96RB6	Nonsense_Mutation	SNP	ENST00000526538.1	37	c.286G>T	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931716	0.34096	.	.	ENSG00000255012	ENST00000526538	.	.	.	3.71	3.71	0.42584	.	0.000000	0.38959	N	0.001515	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-39.3537	14.3562	0.66740	0.0:1.0:0.0:0.0	.	.	.	.	X	96	.	ENSP00000435416:G96X	G	-	1	0	OR5M1	56137269	0.006000	0.16342	0.998000	0.56505	0.443000	0.32047	2.222000	0.42926	1.949000	0.56562	0.280000	0.19369	GGA		PASS	0.463	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		14	43	14	43	---	---	---	---
SLC43A1	8501	broad.mit.edu	37	11	57268684	57268684	+	Silent	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:57268684G>C	ENST00000278426.3	-	3	628	c.273C>G	c.(271-273)acC>acG	p.T91T	SLC43A1_ENST00000528450.1_Silent_p.T91T|SLC43A1_ENST00000533515.1_5'Flank	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1									p.T91T(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CCAGTGGCAGGGTGGTGGCGC	0.662																																						uc001nkk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(271-273)ACC>ACG		solute carrier family 43, member 1							89.0	80.0	83.0					11																	57268684		2201	4296	6497	SO:0001819	synonymous_variant	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57268684G>C	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.273C>G	11.37:g.57268684G>C						SLC43A1_uc001nkl.2_Silent_p.T91T	p.T91T	NM_003627	NP_003618	O75387	LAT3_HUMAN			3	391	-			91			Helical; (Potential).			Silent	SNP	ENST00000278426.3	37	c.273C>G	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	g	8.843	0.942692	0.18281	.	.	ENSG00000149150	ENST00000525764	.	.	.	5.33	2.16	0.27623	.	.	.	.	.	T	0.44201	0.1282	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27365	-1.0076	4	.	.	.	-30.9266	2.5651	0.04781	0.1646:0.1434:0.534:0.1579	.	.	.	.	A	37	.	.	P	-	1	0	SLC43A1	57025260	0.892000	0.30473	0.997000	0.53966	0.844000	0.47949	-0.102000	0.10956	0.571000	0.29365	0.651000	0.88453	CCT		PASS	0.662	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		21	25	21	25	---	---	---	---
OR9I1	219954	broad.mit.edu	37	11	57886380	57886380	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:57886380A>C	ENST00000302610.1	-	1	536	c.537T>G	c.(535-537)tgT>tgG	p.C179W	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C179W(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GTGGGAGGTCACAGAAGAAGA	0.493																																						uc001nml.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(535-537)TGT>TGG		olfactory receptor, family 9, subfamily I,							67.0	65.0	66.0					11																	57886380		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886380A>C	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.537T>G	11.37:g.57886380A>C	ENSP00000302606:p.Cys179Trp					OR9Q1_uc001nmj.2_Intron	p.C179W	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	537	-		Breast(21;0.0589)	179			Extracellular (Potential).		Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.537T>G	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.678983	0.29783	.	.	ENSG00000172377	ENST00000302610	T	0.62639	0.01	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	D	0.84826	0.5558	H	0.96048	3.76	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.89424	0.3712	10	0.87932	D	0	-9.9287	13.6013	0.62020	1.0:0.0:0.0:0.0	.	179	Q8NGQ6	OR9I1_HUMAN	W	179	ENSP00000302606:C179W	ENSP00000302606:C179W	C	-	3	2	OR9I1	57642956	1.000000	0.71417	1.000000	0.80357	0.220000	0.24768	2.330000	0.43885	2.153000	0.67306	0.377000	0.23210	TGT		PASS	0.493	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		9	16	9	16	---	---	---	---
MS4A4A	51338	broad.mit.edu	37	11	60068526	60068526	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:60068526G>C	ENST00000337908.4	+	4	473	c.383G>C	c.(382-384)gGc>gCc	p.G128A	MS4A4A_ENST00000532114.1_Missense_Mutation_p.G128A|MS4A4A_ENST00000355131.3_Missense_Mutation_p.G109A|MS4A4A_ENST00000395016.3_Missense_Mutation_p.G109A	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	128						integral component of membrane (GO:0016021)		p.G109A(1)|p.G128A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						ACTACAAAAGGCCTGGTGAGT	0.303																																						uc001noz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(382-384)GGC>GCC		membrane-spanning 4-domains, subfamily A, member							71.0	71.0	71.0					11																	60068526		2203	4298	6501	SO:0001583	missense	51338					integral to membrane	receptor activity	g.chr11:60068526G>C	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.383G>C	11.37:g.60068526G>C	ENSP00000338648:p.Gly128Ala					MS4A4A_uc001npa.2_Missense_Mutation_p.G109A|MS4A4A_uc001npb.2_Missense_Mutation_p.G109A|MS4A4A_uc001npc.2_Missense_Mutation_p.G109A	p.G128A	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN			4	393	+			128			Cytoplasmic (Potential).		Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Missense_Mutation	SNP	ENST00000337908.4	37	c.383G>C	CCDS7982.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899902	0.33535	.	.	ENSG00000110079	ENST00000532114;ENST00000337908;ENST00000355131;ENST00000395016	T;T;T;T	0.02197	4.4;4.4;4.4;4.4	4.3	1.06	0.20224	.	1.328090	0.05388	U	0.538487	T	0.05273	0.0140	L	0.50333	1.59	0.26171	N	0.979866	D;B	0.61697	0.99;0.203	P;B	0.55011	0.766;0.148	T	0.42832	-0.9428	10	0.17369	T	0.5	0.2142	5.8851	0.18876	0.1079:0.3812:0.5109:0.0	.	128;128	Q96JQ5-2;Q96JQ5	.;M4A4A_HUMAN	A	128;128;109;109	ENSP00000434506:G128A;ENSP00000338648:G128A;ENSP00000347252:G109A;ENSP00000378462:G109A	ENSP00000338648:G128A	G	+	2	0	MS4A4A	59825102	0.148000	0.22702	0.921000	0.36526	0.791000	0.44710	0.596000	0.24044	0.545000	0.28902	0.467000	0.42956	GGC		PASS	0.303	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			4	19	4	19	---	---	---	---
SLC22A6	9356	broad.mit.edu	37	11	62749475	62749475	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:62749475C>A	ENST00000377871.3	-	4	902	c.636G>T	c.(634-636)gaG>gaT	p.E212D	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000458333.2_Missense_Mutation_p.E212D|SLC22A6_ENST00000360421.4_Missense_Mutation_p.E212D|SLC22A6_ENST00000421062.2_Missense_Mutation_p.E212D	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	212					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.E212D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGGGCATCCACTCCACATCTG	0.597																																						uc001nwk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)GAG>GAT		solute carrier family 22 member 6 isoform a							58.0	45.0	50.0					11																	62749475		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62749475C>A	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.636G>T	11.37:g.62749475C>A	ENSP00000367102:p.Glu212Asp					SLC22A6_uc001nwl.2_Missense_Mutation_p.E212D|SLC22A6_uc001nwj.2_Missense_Mutation_p.E212D|SLC22A6_uc001nwm.2_Missense_Mutation_p.E212D	p.E212D	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN			4	943	-			212			Helical; (Potential).		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.636G>T	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822168	0.71028	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	4.82	1.82	0.25136	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93651	0.7972	M	0.93197	3.39	0.40817	D	0.983473	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	D	0.92433	0.5955	10	0.87932	D	0	.	7.4291	0.27118	0.0:0.7132:0.0:0.2868	.	212;212;212;212	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	D	212;191;212;212;212	ENSP00000353597:E212D;ENSP00000367102:E212D;ENSP00000396401:E212D;ENSP00000404441:E212D	ENSP00000353597:E212D	E	-	3	2	SLC22A6	62506051	0.982000	0.34865	1.000000	0.80357	0.936000	0.57629	0.191000	0.17076	0.624000	0.30286	0.491000	0.48974	GAG		PASS	0.597	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		4	8	4	8	---	---	---	---
PC	5091	broad.mit.edu	37	11	66617769	66617769	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:66617769G>A	ENST00000393958.2	-	18	2733	c.2640C>T	c.(2638-2640)agC>agT	p.S880S	PC_ENST00000528224.1_5'Flank|PC_ENST00000393955.2_Silent_p.S880S|PC_ENST00000529047.1_5'UTR|PC_ENST00000393960.1_Silent_p.S880S	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	880					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.S880S(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CAAGCCCCATGCTGTGGGCCT	0.592																																						uc001ojn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(2638-2640)AGC>AGT		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						89.0	85.0	86.0					11																	66617769		2200	4295	6495	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66617769G>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2640C>T	11.37:g.66617769G>A						PC_uc001ojo.1_Silent_p.S880S|PC_uc001ojp.1_Silent_p.S880S|PC_uc001ojm.1_5'Flank	p.S880S	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	17	2689	-		Melanoma(852;0.0525)	880					B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.2640C>T	CCDS8152.1																																																																																				PASS	0.592	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		18	32	18	32	---	---	---	---
SESN3	143686	broad.mit.edu	37	11	94963997	94963997	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:94963997C>T	ENST00000536441.1	-	1	364	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	SESN3_ENST00000537480.1_Intron|RP11-712B9.2_ENST00000543573.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Intron|RP11-712B9.2_ENST00000540692.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.A10T|RP11-712B9.2_ENST00000543150.1_RNA|RP11-712B9.2_ENST00000536683.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.A10T	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	10					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)		p.A10T(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TTGGCGGCGGCCGACGGGCTG	0.751																																						uc001pfk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(28-30)GCC>ACC		sestrin 3							7.0	11.0	10.0					11																	94963997		1967	3959	5926	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94963997C>T	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.28G>A	11.37:g.94963997C>T	ENSP00000441927:p.Ala10Thr					SESN3_uc010rug.1_Intron|SESN3_uc001pfl.2_Missense_Mutation_p.A10T	p.A10T	NM_144665	NP_653266	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	1	250	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	10					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.28G>A	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	c	19.08	3.758452	0.69763	.	.	ENSG00000149212	ENST00000536441;ENST00000393234;ENST00000416495	T;T;T	0.23950	2.22;1.89;1.88	3.51	3.51	0.40186	.	0.511565	0.17032	U	0.189661	T	0.16300	0.0392	N	0.08118	0	0.30487	N	0.771795	P;B	0.34934	0.476;0.221	B;B	0.37888	0.26;0.068	T	0.11616	-1.0580	10	0.39692	T	0.17	-17.071	14.8518	0.70303	0.0:1.0:0.0:0.0	.	10;10	P58005-3;P58005	.;SESN3_HUMAN	T	10	ENSP00000441927:A10T;ENSP00000376926:A10T;ENSP00000407008:A10T	ENSP00000376926:A10T	A	-	1	0	SESN3	94603645	0.997000	0.39634	1.000000	0.80357	0.960000	0.62799	0.365000	0.20348	1.804000	0.52760	0.556000	0.70494	GCC		PASS	0.751	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		14	10	14	10	---	---	---	---
APOA5	116519	broad.mit.edu	37	11	116661392	116661392	+	Missense_Mutation	SNP	C	C	T	rs2075291	byFrequency	TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:116661392C>T	ENST00000227665.4	-	3	587	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.G185S			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	185			G -> C (associated with high plasma triglyceride levels; dbSNP:rs2075291). {ECO:0000269|PubMed:12915450}.		acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)	p.G185S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TTGAAGCGGCCGGTGTGGTGC	0.692																																						uc001ppr.2																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM032546	APOA5	M	rs2075291	c.(553-555)GGC>AGC		apolipoprotein AV precursor							26.0	30.0	29.0					11																	116661392		2201	4295	6496	SO:0001583	missense	116519				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661392C>T	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.553G>A	11.37:g.116661392C>T	ENSP00000227665:p.Gly185Ser					ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.G185S|APOA5_uc009yzf.2_Missense_Mutation_p.G185S|APOA5_uc009yzg.2_Missense_Mutation_p.G211S	p.G185S	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	3	561	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	185					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.553G>A	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	7.064	0.566930	0.13560	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.73363	-0.74;-0.74	4.98	4.06	0.47325	Apolipoprotein/apolipophorin (1);	0.322809	0.26673	N	0.023098	T	0.59418	0.2192	L	0.31207	0.915	0.09310	N	1	P;B	0.35575	0.51;0.239	B;B	0.30572	0.117;0.039	T	0.51466	-0.8702	10	0.33940	T	0.23	-11.6185	11.7284	0.51722	0.0:0.9164:0.0:0.0836	.	182;185	B0YIW1;Q6Q788	.;APOA5_HUMAN	S	185	ENSP00000227665:G185S;ENSP00000445002:G185S	ENSP00000227665:G185S	G	-	1	0	APOA5	116166602	0.000000	0.05858	0.308000	0.25141	0.023000	0.10783	0.068000	0.14531	1.296000	0.44742	0.650000	0.86243	GGC		PASS	0.692	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			14	18	14	18	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116717266	116717266	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:116717266C>A	ENST00000292055.4	-	23	3673	c.3638G>T	c.(3637-3639)tGt>tTt	p.C1213F	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Missense_Mutation_p.C548F|SIK3_ENST00000375300.1_Missense_Mutation_p.C1271F|SIK3_ENST00000542607.1_Missense_Mutation_p.C1153F|SIK3_ENST00000446921.2_Missense_Mutation_p.C1211F|SIK3_ENST00000434315.2_Missense_Mutation_p.C1052F|AP006216.12_ENST00000444200.1_RNA	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1213					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.C1319F(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCTTGCCCCACATTCTGCAAG	0.522																																						uc001ppy.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(3637-3639)TGT>TTT		serine/threonine-protein kinase QSK							96.0	83.0	88.0					11																	116717266		2201	4292	6493	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116717266C>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3638G>T	11.37:g.116717266C>A	ENSP00000292055:p.Cys1213Phe					SIK3_uc001ppz.2_Missense_Mutation_p.C1052F|SIK3_uc001pqa.2_Missense_Mutation_p.C1153F|SIK3_uc001ppw.2_Missense_Mutation_p.C570F|SIK3_uc001ppx.2_Missense_Mutation_p.C591F	p.C1213F	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			23	3674	-			1213					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.3638G>T	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.21|18.21	3.573655|3.573655	0.65765|0.65765	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315|ENST00000445177;ENST00000446921	T;T;T;T;T|.	0.75938|.	-0.97;-0.98;1.12;-0.96;-0.57|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.164283|.	0.28510|.	U|.	0.015097|.	T|T	0.54498|0.54498	0.1862|0.1862	L|L	0.34521|0.34521	1.04|1.04	0.53688|0.53688	D|D	0.999977|0.999977	P;D;D;B|.	0.67145|.	0.814;0.991;0.996;0.032|.	B;P;P;B|.	0.60609|.	0.429;0.835;0.877;0.031|.	T|T	0.50398|0.50398	-0.8833|-0.8833	10|5	0.87932|.	D|.	0|.	.|.	12.3704|12.3704	0.55252|0.55252	0.0:0.9227:0.0:0.0773|0.0:0.9227:0.0:0.0773	.|.	1153;1052;1213;548|.	A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2|.	.;.;SIK3_HUMAN;.|.	F|I	1271;1213;548;1153;1052|1312;1175	ENSP00000364449:C1271F;ENSP00000292055:C1213F;ENSP00000364437:C548F;ENSP00000438108:C1153F;ENSP00000415873:C1052F|.	ENSP00000292055:C1213F|.	C|M	-|-	2|3	0|0	SIK3|SIK3	116222476|116222476	0.808000|0.808000	0.29022|0.29022	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.758000|3.758000	0.55220|0.55220	2.481000|2.481000	0.83766|0.83766	0.655000|0.655000	0.94253|0.94253	TGT|ATG		PASS	0.522	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		13	23	13	23	---	---	---	---
CBL	867	broad.mit.edu	37	11	119103223	119103223	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:119103223G>A	ENST00000264033.4	+	2	637	c.261G>A	c.(259-261)ctG>ctA	p.L87L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	87	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L87L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCTTAGACCTGCTACCAGATA	0.438			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.2				"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(259-261)CTG>CTA		Cas-Br-M (murine) ecotropic retroviral							83.0	81.0	82.0					11																	119103223		2199	4295	6494	SO:0001819	synonymous_variant	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119103223G>A	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.261G>A	11.37:g.119103223G>A							p.L87L	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	2	399	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	87			Cbl-PTB.|4H.		A3KMP8	Silent	SNP	ENST00000264033.4	37	c.261G>A	CCDS8418.1																																																																																				PASS	0.438	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		7	33	7	33	---	---	---	---
CBL	867	broad.mit.edu	37	11	119149393	119149393	+	Silent	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:119149393C>A	ENST00000264033.4	+	9	1777	c.1401C>A	c.(1399-1401)ctC>ctA	p.L467L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	467	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L467L(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		ATGATACTCTCTTCATGATGA	0.463			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.2				"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					2	Substitution - coding silent(1)|Deletion - In frame(1)	p.E366_K477del(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(1399-1401)CTC>CTA		Cas-Br-M (murine) ecotropic retroviral							82.0	86.0	84.0					11																	119149393		2199	4295	6494	SO:0001819	synonymous_variant	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119149393C>A	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1401C>A	11.37:g.119149393C>A							p.L467L	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	9	1539	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	467			Asp/Glu-rich (acidic).		A3KMP8	Silent	SNP	ENST00000264033.4	37	c.1401C>A	CCDS8418.1																																																																																				PASS	0.463	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		3	39	3	39	---	---	---	---
OR4D5	219875	broad.mit.edu	37	11	123810823	123810823	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:123810823C>A	ENST00000307033.2	+	1	574	c.500C>A	c.(499-501)cCa>cAa	p.P167Q		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P167Q(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ATCCAGCTGCCATTCTGTGGG	0.478																																						uc001pzk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(499-501)CCA>CAA		olfactory receptor, family 4, subfamily D,							132.0	121.0	125.0					11																	123810823		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810823C>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.500C>A	11.37:g.123810823C>A	ENSP00000305970:p.Pro167Gln						p.P167Q	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	500	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	167			Extracellular (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.500C>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232122	0.58777	.	.	ENSG00000171014	ENST00000307033	T	0.00202	8.56	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000194	T	0.00666	0.0022	M	0.85373	2.75	0.28141	N	0.929799	D	0.89917	1.0	D	0.83275	0.996	T	0.39035	-0.9633	10	0.87932	D	0	-7.3823	14.5831	0.68305	0.0:0.8539:0.1461:0.0	.	167	Q8NGN0	OR4D5_HUMAN	Q	167	ENSP00000305970:P167Q	ENSP00000305970:P167Q	P	+	2	0	OR4D5	123316033	0.000000	0.05858	1.000000	0.80357	0.977000	0.68977	0.681000	0.25320	2.575000	0.86900	0.655000	0.94253	CCA		PASS	0.478	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		15	50	15	50	---	---	---	---
ST14	6768	broad.mit.edu	37	11	130079677	130079677	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:130079677C>G	ENST00000278742.5	+	19	2945	c.2527C>G	c.(2527-2529)Cct>Gct	p.P843A		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	843	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P843A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CACAAGGCTCCCTCTGTTTCG	0.637																																						uc001qfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2527-2529)CCT>GCT		matriptase	Urokinase(DB00013)						90.0	95.0	94.0					11																	130079677		2201	4297	6498	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130079677C>G	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2527C>G	11.37:g.130079677C>G	ENSP00000278742:p.Pro843Ala						p.P843A	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	19	2720	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	843			Extracellular (Potential).|Peptidase S1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.2527C>G	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	C	7.581	0.668809	0.14776	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.92048	-2.96	5.0	-2.77	0.05877	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.453009	0.16335	N	0.218954	T	0.71400	0.3335	N	0.02169	-0.655	0.23510	N	0.997529	B	0.16396	0.017	B	0.14578	0.011	T	0.63980	-0.6514	10	0.28530	T	0.3	.	1.9614	0.03387	0.106:0.2911:0.2091:0.3938	.	843	Q9Y5Y6	ST14_HUMAN	A	843;745	ENSP00000278742:P843A	ENSP00000278742:P843A	P	+	1	0	ST14	129584887	0.003000	0.15002	0.123000	0.21794	0.436000	0.31835	0.101000	0.15251	-0.539000	0.06273	0.462000	0.41574	CCT		PASS	0.637	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			20	23	20	23	---	---	---	---
OPCML	4978	broad.mit.edu	37	11	132812855	132812855	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:132812855C>A	ENST00000331898.7	-	1	711	c.133G>T	c.(133-135)Gtg>Ttg	p.V45L	OPCML_ENST00000374778.4_Missense_Mutation_p.V4L|OPCML_ENST00000541867.1_Missense_Mutation_p.V45L|OPCML_ENST00000524381.1_Missense_Mutation_p.V38L|OPCML_ENST00000529038.1_Intron	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	45	Ig-like C2-type 1.				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.V45L(1)|p.V38L(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)		CGGACCGTCACGTTGTCCATA	0.662																																						uc001qgs.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(133-135)GTG>TTG		opioid binding protein/cell adhesion							65.0	69.0	67.0					11																	132812855		2201	4295	6496	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132812855C>A	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.133G>T	11.37:g.132812855C>A	ENSP00000330862:p.Val45Leu					OPCML_uc001qgu.2_Missense_Mutation_p.V38L|OPCML_uc010sck.1_Missense_Mutation_p.V45L|OPCML_uc001qgt.2_Missense_Mutation_p.V45L|OPCML_uc010scl.1_Missense_Mutation_p.V4L	p.V45L	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	1	183	-	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)	45			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.133G>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091446	0.55968	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.265595	0.30611	N	0.009255	T	0.58424	0.2121	N	0.17838	0.53	0.41973	D	0.990767	B;B;B;B	0.16802	0.019;0.019;0.019;0.019	B;B;B;B	0.28385	0.061;0.089;0.089;0.061	T	0.53809	-0.8386	10	0.44086	T	0.13	-9.6625	19.6202	0.95653	0.0:1.0:0.0:0.0	.	45;38;45;45	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	L	45;38;4;38;45	ENSP00000330862:V45L;ENSP00000434750:V38L;ENSP00000363910:V4L;ENSP00000445496:V45L	ENSP00000330862:V45L	V	-	1	0	OPCML	132318065	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.506000	0.66993	2.649000	0.89929	0.655000	0.94253	GTG		PASS	0.662	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		12	49	12	49	---	---	---	---
WNT5B	81029	broad.mit.edu	37	12	1749057	1749057	+	Missense_Mutation	SNP	G	G	T	rs190705769		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:1749057G>T	ENST00000397196.2	+	4	768	c.536G>T	c.(535-537)cGg>cTg	p.R179L	WNT5B_ENST00000537031.1_Missense_Mutation_p.R179L|WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000310594.3_Missense_Mutation_p.R179L	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	179					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)	p.R179L(1)		skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GTGGATGCCCGGGAGCGAGAG	0.647																																						uc009zdq.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(535-537)CGG>CTG		wingless-type MMTV integration site family,							32.0	41.0	38.0					12																	1749057		2203	4300	6503	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1749057G>T	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.536G>T	12.37:g.1749057G>T	ENSP00000380379:p.Arg179Leu					WNT5B_uc001qjj.2_Missense_Mutation_p.R179L|WNT5B_uc001qjk.2_Missense_Mutation_p.R179L|WNT5B_uc001qjl.2_Missense_Mutation_p.R179L	p.R179L	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		4	778	+	Ovarian(42;0.107)		179					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.536G>T	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435303	0.83885	.	.	ENSG00000111186	ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.43	4.43	0.53597	.	0.170713	0.49305	D	0.000147	D	0.82518	0.5054	M	0.75884	2.315	0.80722	D	1	P	0.44690	0.841	P	0.53689	0.732	T	0.82602	-0.0376	9	.	.	.	.	9.8067	0.40797	0.1094:0.0:0.8906:0.0	.	179	Q9H1J7	WNT5B_HUMAN	L	179	ENSP00000439312:R179L;ENSP00000308887:R179L;ENSP00000380379:R179L;ENSP00000442348:R179L	.	R	+	2	0	WNT5B	1619318	1.000000	0.71417	0.998000	0.56505	0.809000	0.45718	6.183000	0.72002	2.024000	0.59613	0.313000	0.20887	CGG		PASS	0.647	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			29	33	29	33	---	---	---	---
ITFG2	55846	broad.mit.edu	37	12	2933282	2933282	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:2933282G>T	ENST00000228799.2	+	12	1406	c.1267G>T	c.(1267-1269)Gcc>Tcc	p.A423S	ITFG2_ENST00000419778.2_Missense_Mutation_p.A246S|ITFG2_ENST00000542548.1_Missense_Mutation_p.A311S	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	423					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.A423S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGTGACTCGTGCCCTGCTTCA	0.602																																						uc001qlb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1267-1269)GCC>TCC		integrin alpha FG-GAP repeat containing 2							200.0	170.0	180.0					12																	2933282		2203	4300	6503	SO:0001583	missense	55846							g.chr12:2933282G>T	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.1267G>T	12.37:g.2933282G>T	ENSP00000228799:p.Ala423Ser					ITFG2_uc010seb.1_Missense_Mutation_p.A246S|ITFG2_uc010sec.1_RNA	p.A423S	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		12	1331	+			423					A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	ENST00000228799.2	37	c.1267G>T	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	G	7.934	0.741249	0.15642	.	.	ENSG00000111203	ENST00000228799;ENST00000419778;ENST00000542548	T;T;T	0.41758	0.99;0.99;0.99	4.91	-1.77	0.07982	.	1.036120	0.07577	N	0.919603	T	0.28830	0.0715	L	0.34521	1.04	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.33497	-0.9866	10	0.09843	T	0.71	.	10.9726	0.47448	0.5993:0.0:0.4007:0.0	.	423	Q969R8	ITFG2_HUMAN	S	423;246;311	ENSP00000228799:A423S;ENSP00000401103:A246S;ENSP00000437870:A311S	ENSP00000228799:A423S	A	+	1	0	ITFG2	2803543	0.001000	0.12720	0.006000	0.13384	0.535000	0.34838	-0.125000	0.10579	-0.566000	0.06054	0.561000	0.74099	GCC		PASS	0.602	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463		62	76	62	76	---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4736244	4736244	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:4736244C>A	ENST00000545990.2	-	5	2348	c.1824G>T	c.(1822-1824)aaG>aaT	p.K608N	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.K608N	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	608					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.K608N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCTGGTCACGCTTGAAAATGG	0.478																																						uc001qnb.3																			2	Substitution - Missense(2)		lung(2)	skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(1822-1824)AAG>AAT		A-kinase anchor protein 3							74.0	72.0	73.0					12																	4736244		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736244C>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1824G>T	12.37:g.4736244C>A	ENSP00000440994:p.Lys608Asn						p.K608N	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	2053	-			608					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.1824G>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	6.290	0.421521	0.11928	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.09163	3.01;3.01	6.07	4.26	0.50523	A-kinase anchor 110kDa, C-terminal (1);	0.079075	0.53938	D	0.000043	T	0.16599	0.0399	L	0.39397	1.21	0.34600	D	0.716455	D	0.60575	0.988	P	0.58266	0.836	T	0.20940	-1.0260	10	0.31617	T	0.26	-29.844	8.195	0.31392	0.0:0.7595:0.0:0.2405	.	608	O75969	AKAP3_HUMAN	N	608	ENSP00000228850:K608N;ENSP00000440994:K608N	ENSP00000228850:K608N	K	-	3	2	AKAP3	4606505	0.069000	0.21087	0.732000	0.30844	0.111000	0.19643	0.313000	0.19415	0.899000	0.36444	0.655000	0.94253	AAG		PASS	0.478	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		11	156	11	156	---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5708742	5708742	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:5708742G>C	ENST00000356134.5	-	22	2215	c.2144C>G	c.(2143-2145)aCt>aGt	p.T715S	ANO2_ENST00000327087.8_Missense_Mutation_p.T714S|ANO2_ENST00000546188.1_Missense_Mutation_p.T715S	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	719					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.T715S(1)|p.T714S(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGCAGAGTCAGTTTCTCCAGC	0.453																																						uc001qnm.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(2140-2142)ACT>AGT		anoctamin 2							181.0	180.0	181.0					12																	5708742		2144	4257	6401	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5708742G>C	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2144C>G	12.37:g.5708742G>C	ENSP00000348453:p.Thr715Ser						p.T714S	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			21	2213	-			719			Extracellular (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.2141C>G		.	.	.	.	.	.	.	.	.	.	G	4.050	0.007047	0.07866	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.62639	0.01;0.01;0.01	5.74	3.89	0.44902	.	0.530380	0.21484	N	0.073791	T	0.32255	0.0823	N	0.05230	-0.09	0.22457	N	0.999085	B	0.02656	0.0	B	0.06405	0.002	T	0.17930	-1.0353	10	0.10636	T	0.68	.	4.4572	0.11649	0.0839:0.1606:0.6005:0.155	.	714	Q9NQ90-3	.	S	714;715;715;719	ENSP00000314048:T714S;ENSP00000348453:T715S;ENSP00000440981:T715S	ENSP00000314048:T714S	T	-	2	0	ANO2	5579003	0.998000	0.40836	0.938000	0.37757	0.882000	0.50991	1.533000	0.36040	0.749000	0.32854	0.563000	0.77884	ACT		PASS	0.453	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		29	147	29	147	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6085427	6085427	+	Splice_Site	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:6085427C>T	ENST00000261405.5	-	43	7542		c.e43-1			NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGACACACACCTGTAGACATA	0.527																																						uc001qnn.1																			1	Unknown(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.e43-1		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						81.0	64.0	70.0					12																	6085427		2203	4300	6503	SO:0001630	splice_region_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6085427C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7288-1G>A	12.37:g.6085427C>T						VWF_uc010set.1_Intron	p.V2430_splice	NM_000552	NP_000543	P04275	VWF_HUMAN			43	7538	-								Q8TCE8|Q99806	Splice_Site	SNP	ENST00000261405.5	37	c.7288_splice	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922270	0.73213	.	.	ENSG00000110799	ENST00000261405	.	.	.	5.38	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8767	0.57994	0.1629:0.8371:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VWF	5955688	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.643000	0.74334	1.235000	0.43724	0.591000	0.81541	.		PASS	0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	Intron	44	63	44	63	---	---	---	---
A2ML1	144568	broad.mit.edu	37	12	9016433	9016433	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:9016433C>A	ENST00000299698.7	+	29	3726	c.3546C>A	c.(3544-3546)aaC>aaA	p.N1182K	A2ML1_ENST00000539547.1_Missense_Mutation_p.N691K	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.N1182K(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CATCATCGAACGCCAGCCCTT	0.483																																						uc001quz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3544-3546)AAC>AAA		alpha-2-macroglobulin-like 1 precursor							77.0	75.0	76.0					12																	9016433		1907	4151	6058	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9016433C>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3546C>A	12.37:g.9016433C>A	ENSP00000299698:p.Asn1182Lys					A2ML1_uc001qva.1_Missense_Mutation_p.N762K|A2ML1_uc010sgm.1_Missense_Mutation_p.N682K	p.N1182K	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			29	3644	+			1026						Missense_Mutation	SNP	ENST00000299698.7	37	c.3546C>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536051	0.27475	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.30714	1.52;1.52;1.52	4.39	-3.4	0.04853	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	2.161120	0.02127	N	0.056085	T	0.20007	0.0481	L	0.31371	0.925	0.09310	N	1	B	0.31100	0.308	B	0.35727	0.209	T	0.08868	-1.0701	10	0.14252	T	0.57	.	2.5231	0.04684	0.1292:0.2289:0.4396:0.2024	.	1182	A8K2U0	A2ML1_HUMAN	K	1182;1182;732;691	ENSP00000299698:N1182K;ENSP00000443174:N732K;ENSP00000438292:N691K	ENSP00000299698:N1182K	N	+	3	2	A2ML1	8907700	0.000000	0.05858	0.002000	0.10522	0.256000	0.26092	-0.025000	0.12413	-0.297000	0.08934	-0.383000	0.06682	AAC		PASS	0.483	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		51	75	51	75	---	---	---	---
MANSC1	54682	broad.mit.edu	37	12	12483101	12483101	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:12483101G>C	ENST00000535902.1	-	4	1719	c.1156C>G	c.(1156-1158)Ctt>Gtt	p.L386V	MANSC1_ENST00000545735.1_Missense_Mutation_p.L305V|MANSC1_ENST00000396349.3_Missense_Mutation_p.L352V			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	386						integral component of membrane (GO:0016021)		p.L386I(1)|p.L386V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GACCCGATAAGAAGCCATTTT	0.527																																						uc001rai.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(1156-1158)CTT>GTT		MANSC domain containing 1 precursor							76.0	78.0	77.0					12																	12483101		2203	4300	6503	SO:0001583	missense	54682					integral to membrane		g.chr12:12483101G>C	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.1156C>G	12.37:g.12483101G>C	ENSP00000438205:p.Leu386Val					MANSC1_uc010shm.1_Missense_Mutation_p.L320V|MANSC1_uc001raj.1_Missense_Mutation_p.L352V|MANSC1_uc009zht.1_Missense_Mutation_p.L305V	p.L386V	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	1414	-		Prostate(47;0.0865)	386			Helical; (Potential).		Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	c.1156C>G	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140024	0.56936	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.64085	0.23;0.22;-0.08	5.24	5.24	0.73138	.	0.000000	0.35646	N	0.003069	T	0.78773	0.4336	M	0.78049	2.395	0.36360	D	0.860632	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.987;0.991;0.991	D	0.84861	0.0819	10	0.87932	D	0	-15.4925	14.3004	0.66346	0.0:0.0:1.0:0.0	.	320;352;386	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	V	386;352;305;305	ENSP00000438205:L386V;ENSP00000379638:L352V;ENSP00000445303:L305V	ENSP00000347765:L305V	L	-	1	0	MANSC1	12374368	1.000000	0.71417	0.816000	0.32577	0.451000	0.32288	4.742000	0.62103	2.449000	0.82847	0.491000	0.48974	CTT		PASS	0.527	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		41	63	41	63	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13768106	13768106	+	Silent	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:13768106T>A	ENST00000609686.1	-	7	1805	c.1596A>T	c.(1594-1596)acA>acT	p.T532T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	532					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.T532T(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CACTGATGCCTGTCTCTATGA	0.512																																						uc001rbt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(1594-1596)ACA>ACT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						189.0	146.0	161.0					12																	13768106		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13768106T>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1596A>T	12.37:g.13768106T>A							p.T532T	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			7	1775	-			532			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.1596A>T	CCDS8662.1																																																																																				PASS	0.512	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			73	94	73	94	---	---	---	---
RERGL	79785	broad.mit.edu	37	12	18234228	18234228	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:18234228A>G	ENST00000229002.2	-	6	721	c.515T>C	c.(514-516)aTc>aCc	p.I172T	RERGL_ENST00000541632.1_5'Flank|RERGL_ENST00000538724.1_Missense_Mutation_p.I171T	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	172	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.I172T(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						GTTTATCAGGATGTCCTTGAT	0.398																																						uc001rdq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(514-516)ATC>ACC		RERG/RAS-like							129.0	121.0	123.0					12																	18234228		2203	4300	6503	SO:0001583	missense	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18234228A>G	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.515T>C	12.37:g.18234228A>G	ENSP00000229002:p.Ile172Thr					RERGL_uc001rdr.2_Missense_Mutation_p.I171T	p.I172T	NM_024730	NP_079006	Q9H628	RERGL_HUMAN			6	709	-			172			Small GTPase-like.			Missense_Mutation	SNP	ENST00000229002.2	37	c.515T>C	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	A	12.07	1.827642	0.32329	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	D;D	0.81908	-1.55;-1.55	5.16	1.45	0.22620	.	0.566855	0.19256	N	0.118798	D	0.82967	0.5152	M	0.85197	2.74	0.58432	D	0.999999	B;B	0.23185	0.029;0.081	B;B	0.28385	0.042;0.089	T	0.79697	-0.1695	10	0.87932	D	0	.	8.4343	0.32778	0.7647:0.0:0.2353:0.0	.	171;172	F5H686;Q9H628	.;RERGL_HUMAN	T	172;171	ENSP00000229002:I172T;ENSP00000437814:I171T	ENSP00000229002:I172T	I	-	2	0	RERGL	18125495	0.997000	0.39634	0.213000	0.23690	0.834000	0.47266	3.009000	0.49552	0.377000	0.24735	0.451000	0.29950	ATC		PASS	0.398	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		44	80	44	80	---	---	---	---
RERGL	79785	broad.mit.edu	37	12	18241849	18241849	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:18241849A>T	ENST00000229002.2	-	3	303	c.97T>A	c.(97-99)Tat>Aat	p.Y33N	RERGL_ENST00000536890.1_Missense_Mutation_p.Y32N|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.Y32N	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	33	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.Y33N(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTAGAAGCATATTCTCCAATG	0.328																																						uc001rdq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(97-99)TAT>AAT		RERG/RAS-like							82.0	88.0	86.0					12																	18241849		2203	4296	6499	SO:0001583	missense	79785				signal transduction	membrane	GTP binding|GTPase activity	g.chr12:18241849A>T	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.97T>A	12.37:g.18241849A>T	ENSP00000229002:p.Tyr33Asn					RERGL_uc001rdr.2_Missense_Mutation_p.Y32N	p.Y33N	NM_024730	NP_079006	Q9H628	RERGL_HUMAN			3	291	-			33			Small GTPase-like.			Missense_Mutation	SNP	ENST00000229002.2	37	c.97T>A	CCDS8679.1	.	.	.	.	.	.	.	.	.	.	A	19.33	3.806935	0.70797	.	.	ENSG00000111404	ENST00000229002;ENST00000538724;ENST00000536890	T;T;T	0.81247	-1.47;-1.47;-0.7	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.90974	0.7162	M	0.92317	3.295	0.52501	D	0.999959	D;D	0.89917	1.0;0.982	D;P	0.91635	0.999;0.906	D	0.92495	0.6003	10	0.87932	D	0	.	11.6336	0.51189	1.0:0.0:0.0:0.0	.	32;33	F5H686;Q9H628	.;RERGL_HUMAN	N	33;32;32	ENSP00000229002:Y33N;ENSP00000437814:Y32N;ENSP00000437490:Y32N	ENSP00000229002:Y33N	Y	-	1	0	RERGL	18133116	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.783000	0.75078	2.133000	0.65898	0.460000	0.39030	TAT		PASS	0.328	RERGL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401198.1	NM_024730		50	87	50	87	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21243002	21243002	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:21243002G>A	ENST00000421593.2	+	13	1885	c.1885G>A	c.(1885-1887)Gac>Aac	p.D629N	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D737N|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.D676N|LST3_ENST00000540229.1_Missense_Mutation_p.D737N|RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.D676N	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	629						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D629N(2)		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						ATTCTTAAACGACAGTGAACA	0.303																																						uc010sil.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(2209-2211)GAC>AAC		SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;							42.0	44.0	44.0					12																	21243002		2082	4250	6332	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.chr12:21243002G>A	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.1885G>A	12.37:g.21243002G>A	ENSP00000394168:p.Asp629Asn					LST-3TM12_uc010sim.1_Missense_Mutation_p.D676N|LST-3TM12_uc010sin.1_Missense_Mutation_p.D629N	p.D737N			Q9NPD5	SO1B3_HUMAN			16	2274	+	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.2209G>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.887545	0.00527	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593	T;T;T;T;T	0.36340	1.4;1.31;1.4;1.31;1.26	2.46	1.24	0.21308	.	2.386710	0.01432	N	0.014789	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.0	B;B;B	0.09377	0.001;0.004;0.0	T	0.24905	-1.0147	10	0.02654	T	1	.	4.2689	0.10776	0.8294:0.0:0.1706:0.0	.	629;676;737	G3V0H7;F5H094;Q5JAR4	.;.;.	N	737;676;737;676;629	ENSP00000451758:D737N;ENSP00000370952:D676N;ENSP00000441269:D737N;ENSP00000452013:D676N;ENSP00000394168:D629N	ENSP00000370952:D676N	D	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21134269	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.758000	0.26447	0.366000	0.24427	-0.431000	0.05894	GAC		PASS	0.303	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		9	23	9	23	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21349910	21349910	+	Missense_Mutation	SNP	G	G	C	rs11045853	byFrequency	TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:21349910G>C	ENST00000256958.2	+	8	854	c.758G>C	c.(757-759)cGa>cCa	p.R253P		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	253					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|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)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.R253P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ACTGATTCTCGATGGGTTGGA	0.363																																						uc001req.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(757-759)CGA>CCA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						212.0	196.0	202.0					12																	21349910		2203	4300	6503	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21349910G>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.758G>C	12.37:g.21349910G>C	ENSP00000256958:p.Arg253Pro						p.R253P	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			8	862	+			253			Extracellular (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.758G>C	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672285	0.29693	.	.	ENSG00000134538	ENST00000256958	T	0.53206	0.63	3.24	2.33	0.28932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.108240	0.64402	D	0.000004	T	0.73737	0.3625	H	0.94620	3.56	0.42614	D	0.993324	D	0.89917	1.0	D	0.91635	0.999	T	0.78458	-0.2196	10	0.87932	D	0	.	10.4297	0.44400	0.0:0.217:0.783:0.0	.	253	Q9Y6L6	SO1B1_HUMAN	P	253	ENSP00000256958:R253P	ENSP00000256958:R253P	R	+	2	0	SLCO1B1	21241177	1.000000	0.71417	0.602000	0.28890	0.189000	0.23516	5.564000	0.67359	0.661000	0.30985	0.491000	0.48974	CGA		PASS	0.363	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		81	120	81	120	---	---	---	---
KLHL42	57542	broad.mit.edu	37	12	27950953	27950953	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:27950953G>T	ENST00000381271.2	+	3	1683	c.1372G>T	c.(1372-1374)Gtc>Ttc	p.V458F	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	458					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V458F(1)									GAGCAGAGACGTCACCCTGTC	0.498																																						uc001rij.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1372-1374)GTC>TTC		kelch domain containing 5							148.0	104.0	119.0					12																	27950953		2203	4300	6503	SO:0001583	missense	57542							g.chr12:27950953G>T	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1372G>T	12.37:g.27950953G>T	ENSP00000370671:p.Val458Phe					KLHDC5_uc009zjj.2_RNA	p.V458F	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN			3	1449	+	Lung SC(9;0.0873)		458			Kelch 6.		Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	c.1372G>T	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010205	0.54361	.	.	ENSG00000087448	ENST00000381271	T	0.75050	-0.9	5.71	4.64	0.57946	Kelch-type beta propeller (1);	0.132141	0.51477	D	0.000085	T	0.67050	0.2852	L	0.38175	1.15	0.42635	D	0.993391	D	0.55385	0.971	P	0.52159	0.691	T	0.62025	-0.6941	10	0.10111	T	0.7	.	7.3266	0.26560	0.2175:0.0:0.7825:0.0	.	458	Q9P2K6	KLDC5_HUMAN	F	458	ENSP00000370671:V458F	ENSP00000370671:V458F	V	+	1	0	KLHDC5	27842220	1.000000	0.71417	0.899000	0.35326	0.863000	0.49368	3.520000	0.53465	2.689000	0.91719	0.655000	0.94253	GTC		PASS	0.498	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		52	68	52	68	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43822445	43822445	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:43822445C>A	ENST00000389420.3	-	25	3646	c.3647G>T	c.(3646-3648)tGg>tTg	p.W1216L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.W1216L|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.W334L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1216	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W1216L(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TACGGGTGACCAATCCCCTGC	0.338																																						uc010skx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(3646-3648)TGG>TTG		a disintegrin-like and metalloprotease with							42.0	39.0	40.0					12																	43822445		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43822445C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3647G>T	12.37:g.43822445C>A	ENSP00000374071:p.Trp1216Leu					ADAMTS20_uc001rno.1_Missense_Mutation_p.W334L|ADAMTS20_uc001rnp.1_Missense_Mutation_p.W370L	p.W1216L	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	25	3647	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1216			TSP type-1 8.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3647G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669908	0.88348	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.2	5.2	0.72013	.	0.000000	0.48286	D	0.000193	D	0.91700	0.7376	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.94130	0.7387	10	0.87932	D	0	.	19.6349	0.95726	0.0:1.0:0.0:0.0	.	1216;334	P59510;E9PBD5	ATS20_HUMAN;.	L	1216;346;334;1216;1216	ENSP00000374071:W1216L;ENSP00000447427:W346L;ENSP00000378911:W334L;ENSP00000448341:W1216L	ENSP00000374068:W1216L	W	-	2	0	ADAMTS20	42108712	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	5.699000	0.68310	2.803000	0.96430	0.585000	0.79938	TGG		PASS	0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		3	12	3	12	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43860456	43860456	+	Splice_Site	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:43860456C>A	ENST00000389420.3	-	9	1365	c.1366G>T	c.(1366-1368)Gat>Tat	p.D456Y	ADAMTS20_ENST00000553158.1_Splice_Site_p.D456Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	456	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.			D -> E (in Ref. 2; CAD56159/CAD56160). {ECO:0000305}.	extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E456*(1)|p.D456Y(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTACTTACTCTAGGAATTCA	0.308																																						uc010skx.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1366-1368)GAT>TAT		a disintegrin-like and metalloprotease with							79.0	82.0	81.0					12																	43860456		2203	4300	6503	SO:0001630	splice_region_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43860456C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1367+1G>T	12.37:g.43860456C>A							p.D456Y	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	9	1366	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	456	D -> E (in Ref. 2; CAD56159/CAD56160).		Peptidase M12B.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1366G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273195	0.80580	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.09445	2.98;2.98	4.79	4.79	0.61399	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.52532	D	0.000062	T	0.44891	0.1315	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59204	-0.7498	10	0.87932	D	0	.	18.7314	0.91736	0.0:1.0:0.0:0.0	.	456	P59510	ATS20_HUMAN	Y	456	ENSP00000374071:D456Y;ENSP00000448341:D456Y	ENSP00000374068:D456Y	D	-	1	0	ADAMTS20	42146723	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.427000	0.80284	2.573000	0.86826	0.585000	0.79938	GAT		PASS	0.308	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	Missense_Mutation	7	31	7	31	---	---	---	---
ENDOU	8909	broad.mit.edu	37	12	48107147	48107147	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:48107147A>G	ENST00000422538.3	-	7	898	c.776T>C	c.(775-777)tTt>tCt	p.F259S	ENDOU_ENST00000542202.1_Missense_Mutation_p.F25S|ENDOU_ENST00000229003.3_Missense_Mutation_p.F218S|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000545824.2_Missense_Mutation_p.F196S	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	259					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)	p.F218S(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						GTCATCGACAAACTCTTGCTC	0.522																																						uc001rpu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(775-777)TTT>TCT		placental protein 11 precursor							171.0	155.0	161.0					12																	48107147		2203	4300	6503	SO:0001583	missense	8909				female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity	g.chr12:48107147A>G	M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"""Serine peptidases / Serine peptidases"""	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.776T>C	12.37:g.48107147A>G	ENSP00000397679:p.Phe259Ser					ENDOU_uc010sll.1_Missense_Mutation_p.F25S|ENDOU_uc001rpt.1_Missense_Mutation_p.F218S|ENDOU_uc010slm.1_Missense_Mutation_p.F196S	p.F259S	NM_006025	NP_006016	P21128	ENDOU_HUMAN			7	930	-			259					B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Missense_Mutation	SNP	ENST00000422538.3	37	c.776T>C	CCDS53785.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311081	0.60414	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000542202;ENST00000545824	T;T	0.39592	1.07;1.11	5.64	5.64	0.86602	.	0.140656	0.64402	D	0.000003	T	0.71576	0.3356	M	0.92026	3.265	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.87578	0.984;0.993;0.998;0.992	T	0.78934	-0.2008	10	0.87932	D	0	-13.7449	14.6954	0.69118	1.0:0.0:0.0:0.0	.	196;25;259;218	P21128-3;B7Z7N4;P21128;P21128-2	.;.;ENDOU_HUMAN;.	S	218;259;25;196	ENSP00000229003:F218S;ENSP00000397679:F259S	ENSP00000229003:F218S	F	-	2	0	ENDOU	46393414	1.000000	0.71417	0.890000	0.34922	0.031000	0.12232	8.370000	0.90120	2.144000	0.66660	0.533000	0.62120	TTT		PASS	0.522	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	NM_006025.2		27	86	27	86	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53823386	53823386	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:53823386C>T	ENST00000257863.4	+	8	1197	c.1117C>T	c.(1117-1119)Caa>Taa	p.Q373*	AMHR2_ENST00000550311.1_Nonsense_Mutation_p.Q373*|AMHR2_ENST00000379791.3_Nonsense_Mutation_p.Q373*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.Q373*(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TACTCAACCACAAGGCCCAGC	0.577																																						uc001scx.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1117-1119)CAA>TAA		anti-Mullerian hormone receptor, type II isoform	Adenosine triphosphate(DB00171)						68.0	55.0	59.0					12																	53823386		2203	4300	6503	SO:0001587	stop_gained	269	Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53823386C>T	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1117C>T	12.37:g.53823386C>T	ENSP00000257863:p.Gln373*					AMHR2_uc009zmy.1_Nonsense_Mutation_p.Q373*	p.Q373*	NM_020547	NP_065434	Q16671	AMHR2_HUMAN			8	1195	+			373			Cytoplasmic (Potential).|Protein kinase.		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Nonsense_Mutation	SNP	ENST00000257863.4	37	c.1117C>T	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616774	0.87359	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	.	.	.	4.99	4.08	0.47627	.	1.172550	0.06653	N	0.763123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	10.6575	0.45684	0.1912:0.8088:0.0:0.0	.	.	.	.	X	373	.	ENSP00000257863:Q373X	Q	+	1	0	AMHR2	52109653	0.570000	0.26651	0.985000	0.45067	0.913000	0.54294	1.249000	0.32839	1.434000	0.47414	0.563000	0.77884	CAA		PASS	0.577	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		4	18	4	18	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54920461	54920461	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:54920461C>T	ENST00000293373.6	+	21	2385	c.2306C>T	c.(2305-2307)gCc>gTc	p.A769V	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.A719V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	769				NA -> KP (in Ref. 1; AAA35964). {ECO:0000305}.	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.A769V(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						ATCCGCAACGCCCTCCTGCAG	0.517																																						uc001sgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2305-2307)GCC>GTC		NCK-associated protein 1-like							118.0	98.0	105.0					12																	54920461		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.chr12:54920461C>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.2306C>T	12.37:g.54920461C>T	ENSP00000293373:p.Ala769Val					NCKAP1L_uc010sox.1_Missense_Mutation_p.A311V|NCKAP1L_uc010soy.1_Missense_Mutation_p.A719V	p.A769V	NM_005337	NP_005328	P55160	NCKPL_HUMAN			21	2385	+			769	NA -> KP (in Ref. 1; AAA35964).				B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2306C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	5.973	0.363570	0.11296	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.24151	1.87;1.87	4.99	4.99	0.66335	.	0.266506	0.38005	N	0.001845	T	0.06142	0.0159	N	0.00408	-1.53	0.33934	D	0.642386	B	0.10296	0.003	B	0.09377	0.004	T	0.21211	-1.0252	10	0.02654	T	1	-15.3833	11.9668	0.53040	0.0:0.8247:0.1753:0.0	.	769	P55160	NCKPL_HUMAN	V	769;719	ENSP00000293373:A769V;ENSP00000445596:A719V	ENSP00000293373:A769V	A	+	2	0	NCKAP1L	53206728	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.766000	0.55280	2.479000	0.83701	0.561000	0.74099	GCC		PASS	0.517	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		6	28	6	28	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57587745	57587745	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:57587745G>T	ENST00000243077.3	+	48	8334	c.7868G>T	c.(7867-7869)cGc>cTc	p.R2623L	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2623	LDL-receptor class A 13. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.R2623L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AACTCCAGCCGCTGCAACCAG	0.622																																						uc001snd.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(7867-7869)CGC>CTC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						103.0	97.0	99.0					12																	57587745		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57587745G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7868G>T	12.37:g.57587745G>T	ENSP00000243077:p.Arg2623Leu					MIR1228_hsa-mir-1228|MI0006318_5'Flank	p.R2623L	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	48	8334	+			2623			LDL-receptor class A 13.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.7868G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906073	0.52333	.	.	ENSG00000123384	ENST00000243077	D	0.95622	-3.76	4.96	4.07	0.47477	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.082189	0.41938	D	0.000794	D	0.90277	0.6959	N	0.16166	0.38	0.80722	D	1	P	0.43169	0.8	P	0.45881	0.496	D	0.87349	0.2336	10	0.09084	T	0.74	.	12.5915	0.56445	0.0818:0.0:0.9182:0.0	.	2623	Q07954	LRP1_HUMAN	L	2623	ENSP00000243077:R2623L	ENSP00000243077:R2623L	R	+	2	0	LRP1	55874012	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	3.872000	0.56085	1.321000	0.45227	0.558000	0.71614	CGC		PASS	0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	31	4	31	---	---	---	---
MON2	23041	broad.mit.edu	37	12	62946856	62946856	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:62946856C>A	ENST00000393632.2	+	24	3503	c.3112C>A	c.(3112-3114)Cct>Act	p.P1038T	MON2_ENST00000552115.1_Missense_Mutation_p.P1038T|MON2_ENST00000546600.1_Missense_Mutation_p.P1038T|MON2_ENST00000393629.2_Missense_Mutation_p.P1038T|MON2_ENST00000393630.3_Missense_Mutation_p.P1039T|MON2_ENST00000552738.1_Missense_Mutation_p.P1015T|MON2_ENST00000280379.6_Missense_Mutation_p.P1039T	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1038					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.P1038T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GGATCCCCGTCCTGCTGTCAG	0.458																																						uc001sre.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(3112-3114)CCT>ACT		MON2 homolog							232.0	222.0	225.0					12																	62946856		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62946856C>A		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3112C>A	12.37:g.62946856C>A	ENSP00000377252:p.Pro1038Thr					MON2_uc009zqj.2_Missense_Mutation_p.P1038T|MON2_uc010ssl.1_Missense_Mutation_p.P966T|MON2_uc010ssm.1_Missense_Mutation_p.P1015T|MON2_uc010ssn.1_Missense_Mutation_p.P1038T|MON2_uc001srf.2_Missense_Mutation_p.P801T	p.P1038T	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	24	3503	+			1039					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.3112C>A	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582299	0.86748	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;0.32	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.82157	0.4976	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.981;0.995;0.996;0.998	D	0.83469	0.0058	9	.	.	.	-15.0147	17.9971	0.89187	0.0:1.0:0.0:0.0	.	1038;1015;1038;1038	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	T	1038;1039;1039;1038;1015;1038;1038	ENSP00000377252:P1038T;ENSP00000377250:P1039T;ENSP00000280379:P1039T;ENSP00000447407:P1038T;ENSP00000449215:P1015T;ENSP00000377249:P1038T;ENSP00000446635:P1038T	.	P	+	1	0	MON2	61233123	1.000000	0.71417	0.993000	0.49108	0.839000	0.47603	7.445000	0.80570	2.322000	0.78497	0.650000	0.86243	CCT		PASS	0.458	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		20	102	20	102	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72056843	72056843	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:72056843C>A	ENST00000378743.3	-	1	906	c.548G>T	c.(547-549)gGg>gTg	p.G183V	ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.G183V|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.G183V	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	183					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G183V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCTGCTGAACCCGGATCCTGC	0.642																																						uc001swo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(547-549)GGG>GTG		proline/serine-rich coiled-coil 2							117.0	133.0	128.0					12																	72056843		2024	4179	6203	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72056843C>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.548G>T	12.37:g.72056843C>A	ENSP00000368017:p.Gly183Val					ZFC3H1_uc010sts.1_Missense_Mutation_p.G183V|ZFC3H1_uc001swp.2_Missense_Mutation_p.G183V|THAP2_uc001swq.2_5'Flank	p.G183V	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			1	907	-			183					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.548G>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781951	0.49891	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.38560	1.13	4.29	4.29	0.51040	.	0.416924	0.17749	N	0.163310	T	0.30448	0.0765	N	0.14661	0.345	0.80722	D	1	P;P;P	0.46142	0.873;0.873;0.633	B;B;B	0.42495	0.389;0.389;0.12	T	0.25398	-1.0133	10	0.62326	D	0.03	.	14.4243	0.67204	0.0:1.0:0.0:0.0	.	183;183;183	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	V	183	ENSP00000368017:G183V	ENSP00000368017:G183V	G	-	2	0	ZFC3H1	70343110	0.991000	0.36638	1.000000	0.80357	0.986000	0.74619	3.358000	0.52284	2.384000	0.81235	0.650000	0.86243	GGG		PASS	0.642	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		67	91	67	91	---	---	---	---
SYT1	6857	broad.mit.edu	37	12	79611379	79611379	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:79611379C>G	ENST00000261205.4	+	4	737	c.80C>G	c.(79-81)aCa>aGa	p.T27R	SYT1_ENST00000393240.3_Missense_Mutation_p.T27R|SYT1_ENST00000552744.1_Missense_Mutation_p.T27R|SYT1_ENST00000457153.2_Missense_Mutation_p.T27R	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	27					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.T27R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AGCAACGCCACAGAGCCAGCC	0.493																																						uc001sys.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|pancreas(2)|ovary(1)	6						c.(79-81)ACA>AGA		synaptotagmin I							66.0	66.0	66.0					12																	79611379		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79611379C>G		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.80C>G	12.37:g.79611379C>G	ENSP00000261205:p.Thr27Arg					SYT1_uc001syt.2_Missense_Mutation_p.T27R|SYT1_uc001syu.2_Missense_Mutation_p.T27R|SYT1_uc001syv.2_Missense_Mutation_p.T27R	p.T27R	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			5	751	+			27			Vesicular (Potential).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.80C>G	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568829	0.86439	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T	0.61510	0.11;0.11;0.1;0.11;1.68;2.27	5.5	5.5	0.81552	.	0.111468	0.64402	D	0.000009	T	0.59211	0.2177	M	0.73962	2.25	0.80722	D	1	P;P	0.34462	0.454;0.454	B;B	0.26770	0.073;0.073	T	0.63985	-0.6513	10	0.56958	D	0.05	.	19.3908	0.94581	0.0:1.0:0.0:0.0	.	27;27	Q6AI31;P21579	.;SYT1_HUMAN	R	27	ENSP00000376932:T27R;ENSP00000261205:T27R;ENSP00000391056:T27R;ENSP00000447575:T27R;ENSP00000448861:T27R;ENSP00000401559:T27R	ENSP00000261205:T27R	T	+	2	0	SYT1	78135510	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	7.004000	0.76317	2.578000	0.87016	0.637000	0.83480	ACA		PASS	0.493	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		7	30	7	30	---	---	---	---
MYF6	4618	broad.mit.edu	37	12	81101699	81101699	+	Silent	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:81101699C>A	ENST00000228641.3	+	1	423	c.201C>A	c.(199-201)ggC>ggA	p.G67G		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	67					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G67G(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CGCCCCCGGGCCTGCAGCCTC	0.652																																						uc001szf.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(199-201)GGC>GGA		myogenic factor 6							33.0	39.0	37.0					12																	81101699		2203	4299	6502	SO:0001819	synonymous_variant	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101699C>A		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.201C>A	12.37:g.81101699C>A							p.G67G	NM_002469	NP_002460	P23409	MYF6_HUMAN			1	254	+			67					B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	37	c.201C>A	CCDS9019.1																																																																																				PASS	0.652	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		12	33	12	33	---	---	---	---
C12orf50	160419	broad.mit.edu	37	12	88376963	88376963	+	Missense_Mutation	SNP	G	G	A	rs189840625	byFrequency	TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:88376963G>A	ENST00000298699.2	-	12	1316	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	C12orf50_ENST00000550553.1_Missense_Mutation_p.T340M	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	379								p.T379M(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGATGTTGACGTATATTTGTC	0.294													G|||	2	0.000399361	0.0008	0.0	5008	,	,		14804	0.0		0.0	False		,,,				2504	0.001					uc001tam.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1135-1137)ACG>ATG		hypothetical protein LOC160419							70.0	75.0	73.0					12																	88376963		2202	4291	6493	SO:0001583	missense	160419							g.chr12:88376963G>A	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.1136C>T	12.37:g.88376963G>A	ENSP00000298699:p.Thr379Met						p.T379M	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			12	1304	-			379					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.1136C>T	CCDS9031.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	5.503	0.277727	0.10403	.	.	ENSG00000165805	ENST00000298699;ENST00000550553	T;T	0.30448	1.54;1.53	5.67	-1.31	0.09230	.	0.517808	0.20333	N	0.094398	T	0.11367	0.0277	N	0.05230	-0.09	0.25541	N	0.987178	B	0.12013	0.005	B	0.08055	0.003	T	0.34153	-0.9840	10	0.12766	T	0.61	.	9.1774	0.37120	0.5064:0.0:0.4936:0.0	.	379	Q8NA57	CL050_HUMAN	M	379;340	ENSP00000298699:T379M;ENSP00000448344:T340M	ENSP00000298699:T379M	T	-	2	0	C12orf50	86901094	0.845000	0.29573	0.586000	0.28679	0.404000	0.30871	0.123000	0.15708	-0.066000	0.12998	-2.244000	0.00286	ACG		PASS	0.294	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		28	44	28	44	---	---	---	---
CCER1	196477	broad.mit.edu	37	12	91347960	91347960	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:91347960G>T	ENST00000358859.2	-	1	993	c.560C>A	c.(559-561)cCc>cAc	p.P187H	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	187								p.P187H(1)									GGTGGTGTTGGGCGGCGCTCG	0.657																																						uc001tbj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(559-561)CCC>CAC		hypothetical protein LOC196477							76.0	76.0	76.0					12																	91347960		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347960G>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.560C>A	12.37:g.91347960G>T	ENSP00000351727:p.Pro187His						p.P187H	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	994	-			187					Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.560C>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007176	0.19199	.	.	ENSG00000197651	ENST00000358859	T	0.29917	1.55	4.52	0.404	0.16355	.	0.605887	0.12323	N	0.479082	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	P	0.43094	0.799	P	0.44946	0.465	T	0.14420	-1.0473	10	0.45353	T	0.12	-3.1764	7.1168	0.25421	0.0:0.3906:0.4347:0.1747	.	187	Q8TC90	CL012_HUMAN	H	187	ENSP00000351727:P187H	ENSP00000351727:P187H	P	-	2	0	C12orf12	89872091	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.146000	0.16180	-0.100000	0.12241	-1.412000	0.01120	CCC		PASS	0.657	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		16	67	16	67	---	---	---	---
GLT8D2	83468	broad.mit.edu	37	12	104390537	104390537	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:104390537G>A	ENST00000360814.4	-	8	981	c.576C>T	c.(574-576)gaC>gaT	p.D192D	GLT8D2_ENST00000548660.1_Silent_p.D192D|GLT8D2_ENST00000546436.1_Silent_p.D192D	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	192						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.D192D(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GTCTGTTTATGTCCTGAGCAG	0.522																																						uc001tkh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(574-576)GAC>GAT		glycosyltransferase 8 domain containing 2							108.0	107.0	107.0					12																	104390537		2203	4300	6503	SO:0001819	synonymous_variant	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104390537G>A	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.576C>T	12.37:g.104390537G>A						GLT8D2_uc001tki.1_Silent_p.D192D	p.D192D	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN			8	982	-			192			Lumenal (Potential).		Q96KA2	Silent	SNP	ENST00000360814.4	37	c.576C>T	CCDS9096.1																																																																																				PASS	0.522	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		13	57	13	57	---	---	---	---
ATP2A2	488	broad.mit.edu	37	12	110780213	110780213	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:110780213A>C	ENST00000539276.2	+	15	2387	c.2278A>C	c.(2278-2280)Atc>Ctc	p.I760L	ATP2A2_ENST00000308664.6_Missense_Mutation_p.I760L|ATP2A2_ENST00000395494.2_Missense_Mutation_p.I733L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	760					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.I760L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GAAACAGTTCATCCGCTACCT	0.522																																						uc001tqk.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2278-2280)ATC>CTC		ATPase, Ca++ transporting, slow twitch 2 isoform							141.0	115.0	124.0					12																	110780213		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110780213A>C		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2278A>C	12.37:g.110780213A>C	ENSP00000440045:p.Ile760Leu					ATP2A2_uc001tql.3_Missense_Mutation_p.I760L|ATP2A2_uc010sxy.1_Missense_Mutation_p.I733L	p.I760L	NM_170665	NP_733765	P16615	AT2A2_HUMAN			15	2841	+			760			Helical; Name=5; (By similarity).		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.2278A>C	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	35|35	5.438685|5.438685	0.96168|0.96168	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000548169|ENST00000308664;ENST00000395494;ENST00000539276	.|D;D;D	.|0.90069	.|-2.61;-2.61;-2.61	5.54|5.54	5.54|5.54	0.83059|0.83059	.|ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92011|0.92011	0.7469|0.7469	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.64830	.|0.994;0.963;0.937	.|D;D;P	.|0.66497	.|0.944;0.931;0.81	D|D	0.92909|0.92909	0.6346|0.6346	5|10	.|0.87932	.|D	.|0	.|.	15.6683|15.6683	0.77252|0.77252	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|733;760;760	.|P16615-4;P16615-2;P16615	.|.;.;AT2A2_HUMAN	P|L	650|760;733;760	.|ENSP00000311186:I760L;ENSP00000378872:I733L;ENSP00000440045:I760L	.|ENSP00000311186:I760L	H|I	+|+	2|1	0|0	ATP2A2|ATP2A2	109264596|109264596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	9.339000|9.339000	0.96797|0.96797	2.116000|2.116000	0.64780|0.64780	0.459000|0.459000	0.35465|0.35465	CAT|ATC		PASS	0.522	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		3	24	3	24	---	---	---	---
ATP2A2	488	broad.mit.edu	37	12	110780229	110780229	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:110780229C>T	ENST00000539276.2	+	15	2403	c.2294C>T	c.(2293-2295)tCg>tTg	p.S765L	ATP2A2_ENST00000308664.6_Missense_Mutation_p.S765L|ATP2A2_ENST00000395494.2_Missense_Mutation_p.S738L			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	765			S -> L (in DD). {ECO:0000269|PubMed:10441325}.		blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.S765L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TACCTCATCTCGTCCAACGTC	0.522																																						uc001tqk.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4	GRCh37	CM990252	ATP2A2	M		c.(2293-2295)TCG>TTG		ATPase, Ca++ transporting, slow twitch 2 isoform							112.0	93.0	100.0					12																	110780229		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110780229C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2294C>T	12.37:g.110780229C>T	ENSP00000440045:p.Ser765Leu					ATP2A2_uc001tql.3_Missense_Mutation_p.S765L|ATP2A2_uc010sxy.1_Missense_Mutation_p.S738L	p.S765L	NM_170665	NP_733765	P16615	AT2A2_HUMAN			15	2857	+			765		S -> L (in DD).	Helical; Name=5; (By similarity).		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.2294C>T	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302040	0.95601	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.89681	-2.55;-2.55;-2.55	5.54	5.54	0.83059	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95446	0.8521	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.961;0.999;0.997	D	0.95758	0.8798	10	0.87932	D	0	.	19.4725	0.94969	0.0:1.0:0.0:0.0	.	738;765;765	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	L	765;738;765	ENSP00000311186:S765L;ENSP00000378872:S738L;ENSP00000440045:S765L	ENSP00000311186:S765L	S	+	2	0	ATP2A2	109264612	1.000000	0.71417	0.956000	0.39512	0.756000	0.42949	7.818000	0.86416	2.619000	0.88677	0.561000	0.74099	TCG		PASS	0.522	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		3	16	3	16	---	---	---	---
OAS2	4939	broad.mit.edu	37	12	113444232	113444232	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:113444232G>A	ENST00000342315.4	+	8	1697	c.1483G>A	c.(1483-1485)Ggc>Agc	p.G495S	OAS2_ENST00000392583.2_Missense_Mutation_p.G495S|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	495	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.G495S(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCTGAGTTCTGGCTCCACACC	0.448																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1483-1485)GGC>AGC		2'-5'-oligoadenylate synthetase 2 isoform 1							64.0	63.0	63.0					12																	113444232		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113444232G>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1483G>A	12.37:g.113444232G>A	ENSP00000342278:p.Gly495Ser					OAS2_uc001tui.1_Missense_Mutation_p.G495S	p.G495S	NM_016817	NP_058197	P29728	OAS2_HUMAN			8	1623	+			495			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.1483G>A	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	13.16	2.153678	0.38021	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.08282	3.11;3.11	4.68	1.74	0.24563	.	0.883546	0.09342	U	0.815244	T	0.13670	0.0331	L	0.45352	1.415	0.09310	N	0.999999	D;P	0.55385	0.971;0.822	P;P	0.56648	0.803;0.608	T	0.24190	-1.0167	10	0.41790	T	0.15	-16.6128	4.8219	0.13394	0.1998:0.1781:0.6221:0.0	.	495;495	P29728;P29728-2	OAS2_HUMAN;.	S	495	ENSP00000342278:G495S;ENSP00000376362:G495S	ENSP00000342278:G495S	G	+	1	0	OAS2	111928615	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.543000	0.23237	0.559000	0.29153	0.655000	0.94253	GGC		PASS	0.448	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			22	32	22	32	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126138840	126138840	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:126138840C>T	ENST00000299308.3	+	9	2829	c.2821C>T	c.(2821-2823)Cat>Tat	p.H941Y	TMEM132B_ENST00000535886.1_Missense_Mutation_p.H453Y	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	941						integral component of membrane (GO:0016021)		p.H941Y(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAACATCCCCCATTCCCACGA	0.502																																						uc001uhe.1																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2821-2823)CAT>TAT		transmembrane protein 132B							98.0	97.0	97.0					12																	126138840		1998	4173	6171	SO:0001583	missense	114795					integral to membrane		g.chr12:126138840C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2821C>T	12.37:g.126138840C>T	ENSP00000299308:p.His941Tyr					TMEM132B_uc001uhf.1_Missense_Mutation_p.H453Y	p.H941Y	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2829	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		941			Cytoplasmic (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2821C>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433783	0.83776	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13778	3.29;2.56	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000004	T	0.40862	0.1134	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.68039	0.955	T	0.28364	-1.0046	10	0.87932	D	0	.	19.4949	0.95069	0.0:1.0:0.0:0.0	.	941	Q14DG7	T132B_HUMAN	Y	941;453	ENSP00000299308:H941Y;ENSP00000440436:H453Y	ENSP00000299308:H941Y	H	+	1	0	TMEM132B	124704793	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.593000	0.82686	2.601000	0.87937	0.655000	0.94253	CAT		PASS	0.502	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		12	42	12	42	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20038618	20038618	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr13:20038618G>C	ENST00000400230.2	-	10	763	c.719C>G	c.(718-720)tCt>tGt	p.S240C	TPTE2_ENST00000457266.2_Missense_Mutation_p.S129C|TPTE2_ENST00000390680.2_Missense_Mutation_p.S163C|TPTE2_ENST00000382978.1_Missense_Mutation_p.S200C|TPTE2_ENST00000382977.4_Missense_Mutation_p.S240C|TPTE2_ENST00000382975.4_Missense_Mutation_p.S200C|TPTE2_ENST00000255310.6_Missense_Mutation_p.S163C|TPTE2_ENST00000400103.2_Missense_Mutation_p.S129C			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	240	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S240C(1)|p.S163C(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCTATAGAAAGACTGCCTTCC	0.313																																						uc001umd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(718-720)TCT>TGT		TPTE and PTEN homologous inositol lipid							98.0	92.0	94.0					13																	20038618		2203	4297	6500	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20038618G>C	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.719C>G	13.37:g.20038618G>C	ENSP00000383089:p.Ser240Cys					TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.S129C|TPTE2_uc001ume.2_Missense_Mutation_p.S163C|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA	p.S240C	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	11	930	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	240			Phosphatase tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.719C>G	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	6.437	0.448724	0.12223	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	2.9	2.02	0.26589	Phosphatase tensin type (1);	0.133316	0.52532	D	0.000072	D	0.98820	0.9602	M	0.92317	3.295	0.37024	D	0.896348	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70016	0.96;0.967;0.96	D	0.99780	1.1027	9	.	.	.	-16.5856	7.8012	0.29176	0.0:0.259:0.741:0.0	.	129;163;240	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	C	200;129;240;163;163;240;200;129;240;109	ENSP00000372438:S200C;ENSP00000382974:S129C;ENSP00000383089:S240C;ENSP00000255310:S163C;ENSP00000375098:S163C;ENSP00000372437:S240C;ENSP00000372435:S200C;ENSP00000442218:S129C	.	S	-	2	0	TPTE2	18936618	1.000000	0.71417	0.084000	0.20598	0.006000	0.05464	6.542000	0.73869	0.756000	0.33013	-0.499000	0.04595	TCT		PASS	0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		27	26	27	26	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32729647	32729647	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr13:32729647G>A	ENST00000380250.3	+	15	1995	c.1499G>A	c.(1498-1500)cGg>cAg	p.R500Q		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	500						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R500Q(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATTGGTTTACGGGCATTCTTG	0.423																																						uc001utx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1498-1500)CGG>CAG		furry homolog							79.0	78.0	78.0					13																	32729647		1859	4088	5947	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32729647G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1499G>A	13.37:g.32729647G>A	ENSP00000369600:p.Arg500Gln					FRY_uc010tdw.1_RNA	p.R500Q	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	15	1995	+		Lung SC(185;0.0271)	500					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.1499G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478312	0.96291	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.35973	1.28	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.73430	-0.3985	10	0.87932	D	0	.	18.9901	0.92788	0.0:0.0:1.0:0.0	.	500	Q5TBA9	FRY_HUMAN	Q	500;428	ENSP00000369600:R500Q	ENSP00000267067:R428Q	R	+	2	0	FRY	31627647	1.000000	0.71417	0.952000	0.39060	0.971000	0.66376	9.824000	0.99380	2.557000	0.86248	0.563000	0.77884	CGG		PASS	0.423	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		21	13	21	13	---	---	---	---
MLNR	2862	broad.mit.edu	37	13	49794875	49794876	+	Nonsense_Mutation	DNP	CG	CG	AT			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr13:49794875_49794876CG>AT	ENST00000218721.1	+	1	402_403	c.402_403CG>AT	c.(400-405)gtCGag>gtATag	p.E135*	MLNR_ENST00000398307.1_Nonsense_Mutation_p.E135*	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	135					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)	p.E135*(2)|p.V134V(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGCTCAGCGTCGAGCGCTACCT	0.743																																						uc010tgj.1																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)		0						c.(400-402)GTC>GTA|c.(403-405)GAG>TAG		motilin receptor																																				SO:0001587	stop_gained	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49794875C>A|g.chr13:49794876G>T	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	Exception_encountered	13.37:g.49794875_49794876delinsAT	ENSP00000218721:p.Glu135*						p.V134V|p.E135*	NM_001507	NP_001498	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	1	402|403	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	134|135			Helical; Name=3; (Potential).|Cytoplasmic (Potential).			Silent|Nonsense_Mutation	SNP	ENST00000218721.1	37	c.402C>A|c.403G>T	CCDS9414.1																																																																																				PASS	0.743	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		7	3	7	3	---	---	---	---
INTS6	26512	broad.mit.edu	37	13	51963478	51963478	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr13:51963478C>A	ENST00000311234.4	-	6	1188	c.716G>T	c.(715-717)gGa>gTa	p.G239V	INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.G226V|INTS6_ENST00000463928.1_Missense_Mutation_p.G239V|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000497989.1_Missense_Mutation_p.G61V	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	239					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.G239V(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AGGATCTGGTCCTGCTTTTTC	0.373																																						uc001vfk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(715-717)GGA>GTA		integrator complex subunit 6 isoform a							165.0	161.0	162.0					13																	51963478		2203	4300	6503	SO:0001583	missense	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51963478C>A	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.716G>T	13.37:g.51963478C>A	ENSP00000310260:p.Gly239Val					INTS6_uc001vfj.2_Missense_Mutation_p.G226V|INTS6_uc001vfl.2_Missense_Mutation_p.G61V	p.G239V	NM_012141	NP_036273	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	6	1330	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	239					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.716G>T	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431732	0.83776	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.79399	0.4439	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.79548	-0.1758	9	0.49607	T	0.09	-16.8637	18.3667	0.90392	0.0:1.0:0.0:0.0	.	239	Q9UL03	INT6_HUMAN	V	239;226;61	.	ENSP00000310260:G239V	G	-	2	0	INTS6	50861479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.652000	0.90054	0.563000	0.77884	GGA		PASS	0.373	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		49	46	49	46	---	---	---	---
NEK5	341676	broad.mit.edu	37	13	52693542	52693542	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr13:52693542G>T	ENST00000355568.4	-	4	266	c.127C>A	c.(127-129)Caa>Aaa	p.Q43K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	43	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Q43K(1)|p.Q100K(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCTTTTTCTTGTATGGGCATC	0.333																																						uc001vge.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(127-129)CAA>AAA		NIMA-related kinase 5							68.0	69.0	69.0					13																	52693542		2200	4298	6498	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52693542G>T	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.127C>A	13.37:g.52693542G>T	ENSP00000347767:p.Gln43Lys					NEK5_uc001vgf.2_Missense_Mutation_p.Q43K	p.Q43K	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	4	267	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	43			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.127C>A	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	2.379	-0.342473	0.05243	.	.	ENSG00000197168	ENST00000355568	T	0.63744	-0.06	5.32	4.47	0.54385	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.249318	0.27151	N	0.020683	T	0.24392	0.0591	N	0.00729	-1.24	0.23758	N	0.99692	B	0.11235	0.004	B	0.18263	0.021	T	0.29852	-0.9998	10	0.02654	T	1	.	9.0117	0.36146	0.0:0.12:0.5912:0.2887	.	43	Q6P3R8	NEK5_HUMAN	K	43	ENSP00000347767:Q43K	ENSP00000347767:Q43K	Q	-	1	0	NEK5	51591543	0.994000	0.37717	0.666000	0.29783	0.985000	0.73830	2.609000	0.46317	1.215000	0.43411	0.655000	0.94253	CAA		PASS	0.333	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		14	11	14	11	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101936327	101936327	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr13:101936327A>T	ENST00000251127.6	-	10	1172	c.1091T>A	c.(1090-1092)gTg>gAg	p.V364E	NALCN_ENST00000376196.3_Missense_Mutation_p.V364E|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	364					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.V364E(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)					GTTGACATCCACAGCTACCAG	0.458																																						uc001vox.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(1090-1092)GTG>GAG		voltage gated channel like 1							43.0	43.0	43.0					13																	101936327		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101936327A>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.1091T>A	13.37:g.101936327A>T	ENSP00000251127:p.Val364Glu					NALCN_uc001voy.2_Missense_Mutation_p.V79E|NALCN_uc001voz.2_Missense_Mutation_p.V364E|NALCN_uc001vpa.2_Missense_Mutation_p.V364E	p.V364E	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			10	1280	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		364			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1091T>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.934952	0.92458	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98280	-4.56;-4.84	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.97873	0.9301	L	0.48642	1.525	0.80722	D	1	D;D;D	0.63046	0.985;0.99;0.992	P;P;P	0.56434	0.798;0.737;0.798	D	0.98745	1.0718	10	0.72032	D	0.01	.	15.507	0.75748	1.0:0.0:0.0:0.0	.	364;364;364	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	E	364	ENSP00000251127:V364E;ENSP00000365367:V364E	ENSP00000251127:V364E	V	-	2	0	NALCN	100734328	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.916000	0.92745	2.075000	0.62263	0.443000	0.29094	GTG		PASS	0.458	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		26	7	26	7	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109496795	109496795	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr13:109496795G>T	ENST00000357550.2	+	9	1177	c.1136G>T	c.(1135-1137)aGc>aTc	p.S379I	MYO16_ENST00000356711.2_Missense_Mutation_p.S379I|MYO16_ENST00000251041.5_Missense_Mutation_p.S379I	NM_001198950.1	NP_001185879.1			myosin XVI									p.S379I(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCTCAGGACAGCATCCCTGAA	0.438																																						uc001vqt.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(1135-1137)AGC>ATC		myosin heavy chain Myr 8							124.0	116.0	119.0					13																	109496795		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109496795G>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1136G>T	13.37:g.109496795G>T	ENSP00000350160:p.Ser379Ile					MYO16_uc010agk.1_Missense_Mutation_p.S401I|MYO16_uc001vqu.1_Missense_Mutation_p.S179I	p.S379I	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		10	1262	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		379						Missense_Mutation	SNP	ENST00000357550.2	37	c.1136G>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	7.745	0.702045	0.15172	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	T;T;T	0.81163	-1.46;-1.46;-1.21	5.31	2.54	0.30619	.	0.470461	0.17275	U	0.180206	T	0.69342	0.3100	L	0.47716	1.5	0.36420	D	0.864248	B;P	0.36465	0.321;0.554	B;B	0.32583	0.146;0.148	T	0.67237	-0.5721	9	.	.	.	.	7.2643	0.26222	0.149:0.262:0.589:0.0	.	379;379	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	I	379;379;379;379;167	ENSP00000349145:S379I;ENSP00000350160:S379I;ENSP00000251041:S379I	.	S	+	2	0	MYO16	108294796	0.259000	0.24043	0.409000	0.26459	0.031000	0.12232	0.737000	0.26144	0.707000	0.31934	0.650000	0.86243	AGC		PASS	0.438	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		30	11	30	11	---	---	---	---
OR4K15	81127	broad.mit.edu	37	14	20444238	20444238	+	Silent	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:20444238T>C	ENST00000305051.5	+	1	636	c.561T>C	c.(559-561)acT>acC	p.T187T		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T187T(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCATTCACTGTTAATCTGC	0.448																																						uc010tkx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(559-561)ACT>ACC		olfactory receptor, family 4, subfamily K,							157.0	154.0	155.0					14																	20444238		2203	4299	6502	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444238T>C		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.561T>C	14.37:g.20444238T>C							p.T187T	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	561	+	all_cancers(95;0.00108)		187			Extracellular (Potential).		B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.561T>C	CCDS32026.1																																																																																				PASS	0.448	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			101	45	101	45	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47504487	47504487	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:47504487G>T	ENST00000399232.2	-	8	1703	c.1339C>A	c.(1339-1341)Cca>Aca	p.P447T	MDGA2_ENST00000426342.1_Missense_Mutation_p.P218T|MDGA2_ENST00000357362.3_Missense_Mutation_p.P218T|MDGA2_ENST00000439988.3_Missense_Mutation_p.P516T	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	447	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P218T(2)|p.P516T(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTTCCTGTGGAACAGTCAGA	0.373																																						uc001wwj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1339-1341)CCA>ACA		MAM domain containing 1 isoform 1							143.0	119.0	126.0					14																	47504487		1849	4096	5945	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504487G>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1339C>A	14.37:g.47504487G>T	ENSP00000382178:p.Pro447Thr					MDGA2_uc001wwi.3_Missense_Mutation_p.P218T|MDGA2_uc010ani.2_Intron	p.P447T	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			8	1535	-			447			Ig-like 5.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1339C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.93|19.93	3.918987|3.918987	0.73098|0.73098	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	T;T;T;T|.	0.63913|.	-0.07;-0.07;-0.07;-0.07|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.51477|.	U|.	0.000092|.	T|T	0.70193|0.70193	0.3196|0.3196	L|L	0.52011|0.52011	1.625|1.625	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.65961|0.65961	-0.6041|-0.6041	10|5	0.25106|.	T|.	0.35|.	.|.	18.3087|18.3087	0.90192|0.90192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	447|.	Q7Z553|.	MDGA2_HUMAN|.	T|Y	447;218;516;218|221	ENSP00000400011:P447T;ENSP00000405456:P218T;ENSP00000382178:P516T;ENSP00000349925:P218T|.	ENSP00000349925:P218T|.	P|S	-|-	1|2	0|0	MDGA2|MDGA2	46574237|46574237	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.961000|7.961000	0.87903|0.87903	2.677000|2.677000	0.91161|0.91161	0.591000|0.591000	0.81541|0.81541	CCA|TCC		PASS	0.373	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		22	67	22	67	---	---	---	---
TRIM9	114088	broad.mit.edu	37	14	51446186	51446186	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:51446186G>T	ENST00000298355.3	-	9	3110	c.1989C>A	c.(1987-1989)aaC>aaA	p.N663K	TRIM9_ENST00000338969.5_Missense_Mutation_p.N744K	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	663	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N663K(1)|p.N744K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GTTGTTCATCGTTGATAAAAA	0.473																																						uc001wyx.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|lung(1)	3						c.(1987-1989)AAC>AAA		tripartite motif protein 9 isoform 1							190.0	204.0	199.0					14																	51446186		2203	4300	6503	SO:0001583	missense	114088				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:51446186G>T	AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1989C>A	14.37:g.51446186G>T	ENSP00000298355:p.Asn663Lys					TRIM9_uc001wyy.2_Missense_Mutation_p.N744K	p.N663K	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN			9	2754	-	all_epithelial(31;0.00418)|Breast(41;0.148)		663			B30.2/SPRY.		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	ENST00000298355.3	37	c.1989C>A	CCDS9703.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.879225	0.72294	.	.	ENSG00000100505	ENST00000298355;ENST00000338969	T;T	0.80033	-1.33;-0.86	5.89	2.05	0.26809	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.89812	0.6823	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.87480	0.2420	10	0.40728	T	0.16	.	8.6509	0.34033	0.4586:0.0:0.5414:0.0	.	744;663	Q9C026-4;Q9C026	.;TRIM9_HUMAN	K	663;744	ENSP00000298355:N663K;ENSP00000342970:N744K	ENSP00000298355:N663K	N	-	3	2	TRIM9	50515936	0.995000	0.38212	1.000000	0.80357	0.950000	0.60333	0.415000	0.21181	0.411000	0.25702	-0.259000	0.10710	AAC		PASS	0.473	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276874.1	NM_015163		61	110	61	110	---	---	---	---
DACT1	51339	broad.mit.edu	37	14	59113158	59113158	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:59113158G>T	ENST00000335867.4	+	4	1841	c.1817G>T	c.(1816-1818)cGg>cTg	p.R606L	DACT1_ENST00000541264.2_Missense_Mutation_p.R325L|DACT1_ENST00000556859.1_Missense_Mutation_p.R325L|DACT1_ENST00000395153.3_Missense_Mutation_p.R569L			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	606					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.R606L(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GAGAAAACGCGGGCCGGGAGC	0.612																																						uc001xdw.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(2)|ovary(1)	5						c.(1816-1818)CGG>CTG		dapper 1 isoform 1							16.0	20.0	19.0					14																	59113158		2193	4291	6484	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113158G>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1817G>T	14.37:g.59113158G>T	ENSP00000337439:p.Arg606Leu					DACT1_uc010trv.1_Missense_Mutation_p.R325L|DACT1_uc001xdx.2_Missense_Mutation_p.R569L|DACT1_uc010trw.1_Missense_Mutation_p.R325L	p.R606L	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1981	+			606					A8MYJ2|Q86TY0	Missense_Mutation	SNP	ENST00000335867.4	37	c.1817G>T	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496056	0.44352	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.1	5.1	0.69264	.	0.318632	0.30840	N	0.008772	T	0.46718	0.1407	L	0.45285	1.41	0.22185	N	0.999305	D;D	0.57571	0.98;0.98	P;P	0.57960	0.83;0.83	T	0.43130	-0.9410	10	0.62326	D	0.03	-17.2819	6.6578	0.22996	0.2246:0.0:0.7754:0.0	.	569;606	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	L	325;325;569;606;325	ENSP00000451598:R325L;ENSP00000378581:R325L;ENSP00000378582:R569L;ENSP00000337439:R606L;ENSP00000442850:R325L	ENSP00000337439:R606L	R	+	2	0	DACT1	58182911	1.000000	0.71417	0.312000	0.25196	0.393000	0.30537	4.361000	0.59461	2.369000	0.80426	0.563000	0.77884	CGG		PASS	0.612	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		9	7	9	7	---	---	---	---
PPM1A	5494	broad.mit.edu	37	14	60749954	60749954	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:60749954C>T	ENST00000395076.4	+	2	963	c.533C>T	c.(532-534)gCa>gTa	p.A178V	PPM1A_ENST00000325642.3_Missense_Mutation_p.A251V|PPM1A_ENST00000325658.3_Missense_Mutation_p.A178V|PPM1A_ENST00000529574.1_Missense_Mutation_p.A178V	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	178					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)	p.A251V(1)|p.A178V(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		ATTCAGAATGCAGGTGGCTCT	0.443																																						uc010apn.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(532-534)GCA>GTA		protein phosphatase 1A isoform 1							85.0	83.0	83.0					14																	60749954		2203	4300	6503	SO:0001583	missense	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60749954C>T	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.533C>T	14.37:g.60749954C>T	ENSP00000378514:p.Ala178Val					PPM1A_uc001xew.3_Missense_Mutation_p.A251V|PPM1A_uc001xex.3_Missense_Mutation_p.A178V|PPM1A_uc001xey.3_Missense_Mutation_p.A178V	p.A178V	NM_021003	NP_066283	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	3	935	+			178					B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	c.533C>T	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947520	0.92593	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658;ENST00000525399	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.69	5.69	0.88448	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.984;0.999;0.999	T	0.66122	-0.6002	9	.	.	.	-5.1283	19.8148	0.96562	0.0:1.0:0.0:0.0	.	178;178;178	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	V	251;178;178;178;178	ENSP00000327255:A251V;ENSP00000432966:A178V;ENSP00000378514:A178V;ENSP00000314850:A178V;ENSP00000435398:A178V	.	A	+	2	0	PPM1A	59819707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.685000	0.91497	0.585000	0.79938	GCA		PASS	0.443	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		37	27	37	27	---	---	---	---
SIX1	6495	broad.mit.edu	37	14	61115638	61115638	+	Silent	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:61115638C>T	ENST00000247182.6	-	1	542	c.270G>A	c.(268-270)gcG>gcA	p.A90A	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	90					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.A90A(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCACGTAATGCGCCTTCAGCC	0.627																																						uc001xfb.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(268-270)GCG>GCA		SIX homeobox 1							105.0	107.0	107.0					14																	61115638		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:61115638C>T	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.270G>A	14.37:g.61115638C>T							p.A90A	NM_005982	NP_005973	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	518	-			90					Q53Y16|Q96H64	Silent	SNP	ENST00000247182.6	37	c.270G>A	CCDS9748.1																																																																																				PASS	0.627	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			4	113	4	113	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71455316	71455316	+	Missense_Mutation	SNP	C	C	T	rs538674473	byFrequency	TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:71455316C>T	ENST00000304743.2	+	7	2790	c.2344C>T	c.(2344-2346)Cgc>Tgc	p.R782C	PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Missense_Mutation_p.R782C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	782						integral component of membrane (GO:0016021)		p.R782C(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGTGTCATTTCGCCGTGAACG	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		18559	0.0		0.0	False		,,,				2504	0.002					uc001xmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2344-2346)CGC>TGC		pecanex-like 1							130.0	110.0	117.0					14																	71455316		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71455316C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2344C>T	14.37:g.71455316C>T	ENSP00000304192:p.Arg782Cys					PCNX_uc001xmn.3_Missense_Mutation_p.R782C|PCNX_uc010are.1_Intron	p.R782C	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	7	2790	+			782					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.2344C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432806	0.83776	.	.	ENSG00000100731	ENST00000304743;ENST00000238570	T;T	0.22743	1.94;1.94	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.42200	0.1192	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.15867	-1.0422	10	0.59425	D	0.04	.	18.8684	0.92303	0.0:1.0:0.0:0.0	.	782;782	Q96RV3;Q96RV3-2	PCX1_HUMAN;.	C	782	ENSP00000304192:R782C;ENSP00000238570:R782C	ENSP00000238570:R782C	R	+	1	0	PCNX	70525069	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.275000	0.78548	2.767000	0.95098	0.591000	0.81541	CGC		PASS	0.557	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		39	50	39	50	---	---	---	---
DPF3	8110	broad.mit.edu	37	14	73238547	73238547	+	Silent	SNP	T	T	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:73238547T>G	ENST00000556509.1	-	2	86	c.87A>C	c.(85-87)tcA>tcC	p.S29S	DPF3_ENST00000541685.1_Silent_p.S29S|DPF3_ENST00000546183.1_Silent_p.S39S	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	29					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.S29S(2)|p.S28S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CACACAGCCGTGAGTTGTAAC	0.582																																						uc001xnc.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(85-87)TCA>TCC		D4, zinc and double PHD fingers, family 3							49.0	54.0	52.0					14																	73238547		2185	4293	6478	SO:0001819	synonymous_variant	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73238547T>G	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.87A>C	14.37:g.73238547T>G						DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Silent_p.S29S|DPF3_uc010ttq.1_Silent_p.S39S	p.S29S	NM_012074	NP_036206	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	2	100	-			29					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Silent	SNP	ENST00000556509.1	37	c.87A>C																																																																																					PASS	0.582	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			13	24	13	24	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75302033	75302033	+	Silent	SNP	C	C	T	rs372259639		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:75302033C>T	ENST00000552421.1	+	19	4366	c.4242C>T	c.(4240-4242)gtC>gtT	p.V1414V	YLPM1_ENST00000325680.7_Silent_p.V2120V			P49750	YLPM1_HUMAN	YLP motif containing 1	1925					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.V2120V(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTTTTGTGGTCGGACAGACTG	0.438																																						uc001xqj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(6358-6360)GTC>GTT		YLP motif containing 1		C		0,3786		0,0,1893	112.0	114.0	113.0		6360	2.6	1.0	14		113	2,8232		0,2,4115	no	coding-synonymous	YLPM1	NM_019589.2		0,2,6008	TT,TC,CC		0.0243,0.0,0.0166		2120/2147	75302033	2,12018	1893	4117	6010	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75302033C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.4242C>T	14.37:g.75302033C>T						YLPM1_uc001xql.3_RNA	p.V2120V	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	20	6484	+			1925					P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000552421.1	37	c.6360C>T																																																																																					PASS	0.438	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		14	39	14	39	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79432646	79432646	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:79432646T>A	ENST00000554719.1	+	9	2046	c.1555T>A	c.(1555-1557)Tcc>Acc	p.S519T	NRXN3_ENST00000335750.5_Missense_Mutation_p.S519T	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	110					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.S519T(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)		GGCTTACACCTCCATGCACCT	0.498																																						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.(1555-1557)TCC>ACC		neurexin 3 isoform 1 precursor							203.0	158.0	173.0					14																	79432646		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79432646T>A	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.1555T>A	14.37:g.79432646T>A	ENSP00000451648:p.Ser519Thr					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.S644T	p.S519T	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)	9	2046	+		Renal(4;0.00876)	892			Extracellular (Potential).|Laminin G-like 5.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1555T>A	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617768	0.46736	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.78816	-1.21;-1.21	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.114287	0.64402	D	0.000010	T	0.69566	0.3125	.	.	.	0.48975	D	0.999735	B;B	0.12630	0.006;0.006	B;B	0.21546	0.005;0.035	T	0.63747	-0.6567	8	.	.	.	.	16.3265	0.82983	0.0:0.0:0.0:1.0	.	892;519	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	T	892;881;519;519	ENSP00000451648:S519T;ENSP00000338349:S519T	.	S	+	1	0	NRXN3	78502399	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.287000	0.51732	2.313000	0.78055	0.455000	0.32223	TCC		PASS	0.498	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		4	72	4	72	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79434533	79434533	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:79434533G>T	ENST00000554719.1	+	11	2358	c.1867G>T	c.(1867-1869)Ggt>Tgt	p.G623C	NRXN3_ENST00000335750.5_Missense_Mutation_p.G623C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	227					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.G623C(2)		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)		CTATATGGCTGGTCTGGCCCA	0.473																																						uc001xun.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(1867-1869)GGT>TGT		neurexin 3 isoform 1 precursor							105.0	97.0	100.0					14																	79434533		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79434533G>T	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.1867G>T	14.37:g.79434533G>T	ENSP00000451648:p.Gly623Cys					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.G748C	p.G623C	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)	11	2358	+		Renal(4;0.00876)	996			Extracellular (Potential).|Laminin G-like 5.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1867G>T	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726097	0.89298	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	D;D	0.91351	-2.83;-2.83	5.94	5.94	0.96194	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	D	0.95726	0.8610	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94808	0.7976	8	.	.	.	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	996;623	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	C	996;985;623;623	ENSP00000451648:G623C;ENSP00000338349:G623C	.	G	+	1	0	NRXN3	78504286	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.727000	0.98787	2.807000	0.96579	0.591000	0.81541	GGT		PASS	0.473	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		21	26	21	26	---	---	---	---
GALC	2581	broad.mit.edu	37	14	88454828	88454828	+	Missense_Mutation	SNP	G	G	A	rs73312829	byFrequency	TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:88454828G>A	ENST00000261304.2	-	2	341	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	GALC_ENST00000554916.1_5'UTR|GALC_ENST00000544807.2_Missense_Mutation_p.R23C|GALC_ENST00000393568.4_Intron|GALC_ENST00000393569.2_Missense_Mutation_p.R53C	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	79			R -> H (in GLD). {ECO:0000269|PubMed:8940268}.		carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)	p.R79C(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCTGAGAACGATAGGGCTCT	0.318													g|||	2	0.000399361	0.0015	0.0	5008	,	,		19323	0.0		0.0	False		,,,				2504	0.0					uc001xvt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)CGT>TGT		galactosylceramidase isoform a precursor			CYS/ARG,,CYS/ARG	10,3588		0,10,1789	101.0	99.0	100.0		235,,157	5.7	1.0	14	dbSNP_130	100	0,8128		0,0,4064	yes	missense,intron,missense	GALC	NM_000153.3,NM_001201401.1,NM_001201402.1	180,,180	0,10,5853	AA,AG,GG		0.0,0.2779,0.0853	probably-damaging,,probably-damaging	79/686,,53/660	88454828	10,11716	1799	4064	5863	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88454828G>A	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.235C>T	14.37:g.88454828G>A	ENSP00000261304:p.Arg79Cys					GALC_uc010tvx.1_Missense_Mutation_p.R53C|GALC_uc010tvy.1_Intron|GALC_uc010tvz.1_Missense_Mutation_p.R23C|GALC_uc001xvu.1_Missense_Mutation_p.R79C	p.R79C	NM_000153	NP_000144	P54803	GALC_HUMAN			2	634	-			79		R -> H (in GLD).			B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.235C>T	CCDS9878.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	23.0	4.365973	0.82463	0.002779	0.0	ENSG00000054983	ENST00000261304;ENST00000544807;ENST00000393569;ENST00000445021	D;D;D	0.95103	-3.61;-3.61;-3.61	5.71	5.71	0.89125	Glycoside hydrolase, superfamily (1);	0.052792	0.85682	D	0.000000	D	0.97642	0.9227	M	0.91140	3.18	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.994;0.999	D	0.98117	1.0423	10	0.87932	D	0	-17.0448	13.5842	0.61919	0.0:0.0:0.8444:0.1556	.	23;53;79;79	P54803-5;P54803-4;G3XAI6;P54803	.;.;.;GALC_HUMAN	C	79;23;53;79	ENSP00000261304:R79C;ENSP00000437513:R23C;ENSP00000377199:R53C	ENSP00000261304:R79C	R	-	1	0	GALC	87524581	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.783000	0.75078	2.700000	0.92200	0.650000	0.86243	CGT		PASS	0.318	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			23	44	23	44	---	---	---	---
SPATA7	55812	broad.mit.edu	37	14	88892720	88892720	+	Nonsense_Mutation	SNP	G	G	T	rs372509077		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:88892720G>T	ENST00000393545.4	+	6	806	c.517G>T	c.(517-519)Gag>Tag	p.E173*	SPATA7_ENST00000045347.7_Nonsense_Mutation_p.E173*|SPATA7_ENST00000356583.5_Nonsense_Mutation_p.E141*|SPATA7_ENST00000556553.1_Nonsense_Mutation_p.E141*	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	173					response to stimulus (GO:0050896)|visual perception (GO:0007601)			p.E173*(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AAATGGTCCTGAGAAGAACTC	0.498																																						uc001xwq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(517-519)GAG>TAG		spermatogenesis-associated protein 7 isoform a							83.0	73.0	77.0					14																	88892720		2203	4300	6503	SO:0001587	stop_gained	55812				response to stimulus|visual perception			g.chr14:88892720G>T	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.517G>T	14.37:g.88892720G>T	ENSP00000377176:p.Glu173*					SPATA7_uc001xwr.2_Nonsense_Mutation_p.E141*|SPATA7_uc001xws.2_Nonsense_Mutation_p.E109*|SPATA7_uc001xwt.2_Nonsense_Mutation_p.E67*|SPATA7_uc001xwu.2_5'Flank	p.E173*	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN			6	668	+			173					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Nonsense_Mutation	SNP	ENST00000393545.4	37	c.517G>T	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215075	0.58452	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000555401;ENST00000553885;ENST00000045347	.	.	.	5.33	1.99	0.26369	.	1.223890	0.05501	N	0.558385	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-0.9349	10.3868	0.44145	0.0:0.3742:0.5107:0.1151	.	.	.	.	X	141;173;141;116;159;173	.	ENSP00000045347:E173X	E	+	1	0	SPATA7	87962473	0.507000	0.26146	0.050000	0.19076	0.523000	0.34469	0.640000	0.24705	0.658000	0.30925	0.650000	0.86243	GAG		PASS	0.498	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			13	53	13	53	---	---	---	---
RPS6KA5	9252	broad.mit.edu	37	14	91386632	91386632	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:91386632C>A	ENST00000261991.3	-	7	897	c.724G>T	c.(724-726)Ggt>Tgt	p.G242C	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.G242C|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.G163C	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	242	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G242C(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ATTAGAACACCCAAACTCCAC	0.289																																						uc001xys.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(724-726)GGT>TGT		ribosomal protein S6 kinase, polypeptide 5							97.0	104.0	101.0					14																	91386632		2203	4299	6502	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91386632C>A	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.724G>T	14.37:g.91386632C>A	ENSP00000261991:p.Gly242Cys					RPS6KA5_uc010twi.1_Missense_Mutation_p.G163C|RPS6KA5_uc001xyt.2_Missense_Mutation_p.G242C|RPS6KA5_uc010att.1_RNA	p.G242C	NM_004755	NP_004746	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	7	939	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	242			Protein kinase 1.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.724G>T	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544016	0.86022	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.72835	-0.69;-0.69;-0.69	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.106108	0.64402	D	0.000004	D	0.91791	0.7403	H	0.99582	4.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95438	0.8523	10	0.87932	D	0	.	18.9634	0.92685	0.0:1.0:0.0:0.0	.	242;242	O75582-2;O75582	.;KS6A5_HUMAN	C	242;163;242	ENSP00000261991:G242C;ENSP00000442803:G163C;ENSP00000402787:G242C	ENSP00000261991:G242C	G	-	1	0	RPS6KA5	90456385	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.099000	0.76981	2.469000	0.83416	0.650000	0.86243	GGT		PASS	0.289	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		16	78	16	78	---	---	---	---
UBR7	55148	broad.mit.edu	37	14	93677055	93677055	+	Splice_Site	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:93677055G>C	ENST00000013070.6	+	3	581		c.e3+1		UBR7_ENST00000416753.1_Splice_Site|RP11-371E8.4_ENST00000557574.1_Splice_Site|RP11-371E8.4_ENST00000557048.1_Splice_Site	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)								ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						ATTACTTCCTGTAAGTAAGCA	0.294																																						uc001ybm.3																			1	Unknown(1)		lung(1)		0						c.e3+1		ubiquitin protein ligase E3 component n-recognin							29.0	30.0	30.0					14																	93677055		2197	4289	6486	SO:0001630	splice_region_variant	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93677055G>C	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.345+1G>C	14.37:g.93677055G>C						UBR7_uc001ybn.3_Splice_Site_p.P39_splice|UBR7_uc010auq.2_Splice_Site	p.P115_splice	NM_175748	NP_786924	Q8N806	UBR7_HUMAN			3	581	+								Q86U21|Q86UA9|Q96BY0|Q9NVV6	Splice_Site	SNP	ENST00000013070.6	37	c.345_splice	CCDS9909.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237124	0.79800	.	.	ENSG00000259066;ENSG00000012963;ENSG00000012963;ENSG00000012963;ENSG00000012963;ENSG00000012963;ENSG00000012963	ENST00000557574;ENST00000013070;ENST00000535646;ENST00000416753;ENST00000554232;ENST00000555113;ENST00000553857	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0812	0.97776	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP11-371E8.4;UBR7	92746808	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.806000	0.91930	2.744000	0.94065	0.585000	0.79938	.		PASS	0.294	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748	Intron	7	5	7	5	---	---	---	---
SERPINA12	145264	broad.mit.edu	37	14	94953751	94953751	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:94953751C>T	ENST00000341228.2	-	6	1929	c.1134G>A	c.(1132-1134)atG>atA	p.M378I	SERPINA12_ENST00000556881.1_Missense_Mutation_p.M378I	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	378	RCL.				negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.M378I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTGGTGTCTCCATGGGCAGAG	0.537																																						uc001ydj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(1132-1134)ATG>ATA		serine (or cysteine) proteinase inhibitor, clade							123.0	101.0	108.0					14																	94953751		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94953751C>T	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.1134G>A	14.37:g.94953751C>T	ENSP00000342109:p.Met378Ile						p.M378I	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	6	1930	-			378						Missense_Mutation	SNP	ENST00000341228.2	37	c.1134G>A	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.102926	0.56183	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.87491	-2.26;-2.26	5.6	5.6	0.85130	Serpin domain (3);	0.000000	0.64402	D	0.000002	D	0.85762	0.5772	M	0.70903	2.155	0.36731	D	0.881692	B	0.27882	0.192	B	0.25987	0.065	D	0.85430	0.1148	10	0.37606	T	0.19	.	13.5041	0.61474	0.1559:0.8441:0.0:0.0	.	378	Q8IW75	SPA12_HUMAN	I	378	ENSP00000451738:M378I;ENSP00000342109:M378I	ENSP00000342109:M378I	M	-	3	0	SERPINA12	94023504	0.010000	0.17322	1.000000	0.80357	0.898000	0.52572	0.284000	0.18864	2.625000	0.88918	0.561000	0.74099	ATG		PASS	0.537	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		41	49	41	49	---	---	---	---
CCNK	8812	broad.mit.edu	37	14	99961950	99961950	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:99961950T>A	ENST00000389879.5	+	4	518	c.395T>A	c.(394-396)tTt>tAt	p.F132Y	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Missense_Mutation_p.F132Y	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	132					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.F132Y(1)		NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				TTTGGCCAGTTTGGAGATGAC	0.378																																						uc001ygi.3																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)TTT>TAT		cyclin K isoform 1							151.0	150.0	151.0					14																	99961950		1875	4110	5985	SO:0001583	missense	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99961950T>A	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.395T>A	14.37:g.99961950T>A	ENSP00000374529:p.Phe132Tyr					CCNK_uc001ygg.3_Missense_Mutation_p.F132Y	p.F132Y	NM_001099402	NP_001092872	O75909	CCNK_HUMAN			4	525	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	132					Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	c.395T>A	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	T	32	5.105113	0.94245	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000557441;ENST00000555049	T;T;T	0.23348	2.09;1.91;2.14	6.14	6.14	0.99180	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	L	0.47078	1.49	0.80722	D	1	P;P	0.47762	0.864;0.9	P;P	0.52856	0.694;0.711	T	0.02070	-1.1219	10	0.22109	T	0.4	-12.1319	16.806	0.85666	0.0:0.0:0.0:1.0	.	132;132	O75909;O75909-2	CCNK_HUMAN;.	Y	132	ENSP00000374529:F132Y;ENSP00000450792:F132Y;ENSP00000452307:F132Y	ENSP00000216279:F132Y	F	+	2	0	CCNK	99031703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.884000	0.87274	2.367000	0.80283	0.529000	0.55759	TTT		PASS	0.378	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			24	142	24	142	---	---	---	---
SNHG23	100507242	broad.mit.edu	37	14	101423527	101423527	+	lincRNA	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:101423527C>T	ENST00000556637.1	+	0	464				SNORD114-6_ENST00000364393.1_RNA|SNORD113_ENST00000363280.1_RNA|SNORD114-5_ENST00000362928.1_RNA|SNORD114-4_ENST00000363962.1_RNA																							CCACTGGTGGCGTATAAATCA	0.318																																						uc001yiw.2																			0					0								Homo sapiens small nucleolar RNA, C/D box 114-6 (SNORD114-6), non-coding RNA.							64.0	61.0	62.0					14																	101423527		876	1991	2867			767582							g.chr14:101423527C>T																													14.37:g.101423527C>T								NR_003198						1		+									RNA	SNP	ENST00000556637.1	37	c.25C>T																																																																																					PASS	0.318	AL132709.5-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414510.1			3	25	3	25	---	---	---	---
MIR412	574433	broad.mit.edu	37	14	101530870	101530870	+	RNA	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:101530870A>T	ENST00000362142.2	+	0	0				MIR410_ENST00000362222.2_RNA|MIR656_ENST00000385224.1_RNA|MIR377_ENST00000362145.2_RNA|MIR541_ENST00000401360.1_RNA|MIR369_ENST00000362155.3_RNA|MIR409_ENST00000362237.1_RNA	NR_030155.1				microRNA 412																		CCCACTCCAAAGTTCACAGAA	0.592																																						hsa-mir-541|MI0005539																			0					0															76.0	72.0	73.0					14																	101530870		1568	3582	5150			100126308							g.chr14:101530870A>T			14q32.31	2011-09-12		2008-12-18	ENSG00000199012	ENSG00000199012		"""ncRNAs / Micro RNAs"""	32064	non-coding RNA	RNA, micro				MIRN412			Standard	NR_030155		Approved	hsa-mir-412	uc021sds.1				14.37:g.101530870A>T						MIR409_hsa-mir-409|MI0001735_5'Flank|MIR412_hsa-mir-412|MI0002464_5'Flank|uc010txp.1_5'Flank|MIR369_hsa-mir-369|MI0000777_5'Flank|MIR410_hsa-mir-410|MI0002465_5'Flank|MIR656_hsa-mir-656|MI0003678_5'Flank										+									RNA	SNP	ENST00000362142.2	37	c.39A>T																																																																																					PASS	0.592	MIR412-201	KNOWN	basic	miRNA	miRNA		NR_030155		4	24	4	24	---	---	---	---
IGHV2-26	28455	broad.mit.edu	37	14	106757888	106757888	+	RNA	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:106757888G>T	ENST00000390611.2	-	0	142									immunoglobulin heavy variable 2-26																		GACGGTGCAGGTCAGCGTGAG	0.557																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							45.0	43.0	44.0					14																	106757888		1989	4174	6163			8755							g.chr14:106757888G>T	M99648		14q32.33	2012-02-08			ENSG00000211951	ENSG00000211951		"""Immunoglobulins / IGH locus"""	5575	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152100		14.37:g.106757888G>T														472		-									RNA	SNP	ENST00000390611.2	37	c.16177C>A																																																																																					PASS	0.557	IGHV2-26-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325197.1	NG_001019		21	14	21	14	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20651270	20651270	+	RNA	SNP	T	T	C	rs377668971		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:20651270T>C	ENST00000428453.1	-	0	2367							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.M560V(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GAAGCATTCATATCTTCCTCA	0.493																																						uc001ytg.2																			1	Substitution - Missense(1)		lung(1)								c.(1678-1680)ATG>GTG		RecName: Full=Putative HERC2-like protein 3;		T		0,2690		0,0,1345	45.0	39.0	41.0			2.9	1.0	15		41	1,4559		0,1,2279	no	intergenic				0,1,3624	CC,CT,TT		0.0219,0.0,0.0138			20651270	1,7249	1345	2280	3625			0							g.chr15:20651270T>C	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20651270T>C						uc010tyx.1_RNA|uc001yth.3_Missense_Mutation_p.M560V|uc010tyy.1_Missense_Mutation_p.M560V	p.M560V							17	2387	-									Missense_Mutation	SNP	ENST00000428453.1	37	c.1678A>G																																																																																					PASS	0.493	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		21	92	21	92	---	---	---	---
HERC2P3	283755	broad.mit.edu	37	15	20658901	20658901	+	RNA	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:20658901T>A	ENST00000428453.1	-	0	1965							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.R426*(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGAATAAGTCTTTGCCATCCA	0.368																																						uc001ytg.2																			1	Substitution - Nonsense(1)		lung(1)								c.(1276-1278)AGA>TGA		RecName: Full=Putative HERC2-like protein 3;							41.0	47.0	45.0					15																	20658901		2140	4219	6359			0							g.chr15:20658901T>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20658901T>A						uc010tyx.1_Intron|uc001yth.3_Nonsense_Mutation_p.R426*|uc010tyy.1_Nonsense_Mutation_p.R426*|uc010tyz.1_Nonsense_Mutation_p.R274*	p.R426*							14	1985	-									Nonsense_Mutation	SNP	ENST00000428453.1	37	c.1276A>T																																																																																					PASS	0.368	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		21	98	21	98	---	---	---	---
MAGEL2	54551	broad.mit.edu	37	15	23890379	23890379	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:23890379G>A	ENST00000532292.1	-	1	796	c.702C>T	c.(700-702)gtC>gtT	p.V234V		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	117					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.V234V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGGGCTGTGGGACCCATGGAA	0.587																																						uc001ywj.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(700-702)GTC>GTT		MAGE-like protein 2							54.0	59.0	58.0					15																	23890379		2046	4221	6267	SO:0001819	synonymous_variant	54551							g.chr15:23890379G>A	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.702C>T	15.37:g.23890379G>A							p.V234V	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	797	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Silent	SNP	ENST00000532292.1	37	c.702C>T		.	.	.	.	.	.	.	.	.	.	G	0.011	-1.703713	0.00719	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.21	-5.47	0.02600	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.26710	-1.0095	4	.	.	.	.	3.0526	0.06174	0.1837:0.2629:0.424:0.1294	.	.	.	.	F	266	.	.	S	-	2	0	MAGEL2	21441472	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.942000	0.01541	-1.060000	0.03189	-0.355000	0.07637	TCC		PASS	0.587	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		21	47	21	47	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24921562	24921562	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:24921562G>T	ENST00000329468.2	+	1	1022	c.548G>T	c.(547-549)gGa>gTa	p.G183V		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	183					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G183V(1)									CTTAGCAGCGGAGAAGCATCG	0.597																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(547-549)GGA>GTA		hypothetical protein LOC23742							47.0	40.0	42.0					15																	24921562		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921562G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.548G>T	15.37:g.24921562G>T	ENSP00000333735:p.Gly183Val						p.G183V	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1022	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	183						Missense_Mutation	SNP	ENST00000329468.2	37	c.548G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.88	1.770976	0.31320	.	.	ENSG00000185823	ENST00000329468	T	0.14640	2.49	2.36	1.41	0.22369	.	1.398570	0.05088	N	0.484776	T	0.22820	0.0551	L	0.43923	1.385	0.09310	N	1	D	0.62365	0.991	P	0.58970	0.849	T	0.15407	-1.0438	10	0.40728	T	0.16	.	4.8031	0.13307	0.1872:0.0:0.8128:0.0	.	183	Q9NZP6	CO002_HUMAN	V	183	ENSP00000333735:G183V	ENSP00000333735:G183V	G	+	2	0	C15orf2	22472655	0.001000	0.12720	0.001000	0.08648	0.015000	0.08874	0.628000	0.24522	0.541000	0.28827	0.430000	0.28490	GGA		PASS	0.597	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		5	14	5	14	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28096622	28096622	+	Splice_Site	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:28096622C>A	ENST00000354638.3	-	22	2400		c.e22-1		OCA2_ENST00000353809.5_Splice_Site	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II						cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCACGGGAATCTGTGGAGGAA	0.557									Oculocutaneous Albinism																													uc001zbh.3																			1	Unknown(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.e22-1		oculocutaneous albinism II							53.0	40.0	45.0					15																	28096622		2200	4300	6500	SO:0001630	splice_region_variant	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28096622C>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2245-1G>T	15.37:g.28096622C>A						OCA2_uc010ayv.2_Splice_Site_p.I725_splice	p.I749_splice	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	22	2355	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)						Q15211|Q15212|Q96EN1|Q9UMI5	Splice_Site	SNP	ENST00000354638.3	37	c.2245_splice	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421566	0.83559	.	.	ENSG00000104044	ENST00000354638;ENST00000353809	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3872	0.74711	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OCA2	25770217	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.291000	0.72719	2.282000	0.76494	0.650000	0.86243	.		PASS	0.557	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	Intron	4	11	4	11	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33872198	33872198	+	Silent	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:33872198C>A	ENST00000389232.4	+	13	1360	c.1290C>A	c.(1288-1290)gcC>gcA	p.A430A	RYR3_ENST00000415757.3_Silent_p.A430A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	430					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.A430A(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCACAGCTGCCCCCATCACCC	0.552																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(1288-1290)GCC>GCA		ryanodine receptor 3							58.0	59.0	58.0					15																	33872198		2006	4184	6190	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33872198C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1290C>A	15.37:g.33872198C>A						RYR3_uc010bar.2_Silent_p.A430A	p.A430A	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	13	1360	+		all_lung(180;7.18e-09)	430			Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.1290C>A	CCDS45210.1																																																																																				PASS	0.552	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			8	5	8	5	---	---	---	---
TGM7	116179	broad.mit.edu	37	15	43571926	43571926	+	Silent	SNP	G	G	A	rs200510695		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:43571926G>A	ENST00000452443.2	-	10	1579	c.1575C>T	c.(1573-1575)atC>atT	p.I525I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	525					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.I525I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCACCAGTCCGATGGGCCCCC	0.647																																						uc001zrf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1573-1575)ATC>ATT		transglutaminase 7	L-Glutamine(DB00130)	G		0,4404		0,0,2202	62.0	66.0	65.0		1575	-0.9	0.0	15		65	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	TGM7	NM_052955.2		0,2,6499	AA,AG,GG		0.0233,0.0,0.0154		525/711	43571926	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	116179				peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43571926G>A	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1575C>T	15.37:g.43571926G>A							p.I525I	NM_052955	NP_443187	Q96PF1	TGM7_HUMAN		GBM - Glioblastoma multiforme(94;9.14e-07)	10	1580	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	525						Silent	SNP	ENST00000452443.2	37	c.1575C>T	CCDS32213.1																																																																																				PASS	0.647	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955		19	25	19	25	---	---	---	---
TRPM7	54822	broad.mit.edu	37	15	50897096	50897096	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:50897096C>A	ENST00000313478.7	-	21	3236	c.2955G>T	c.(2953-2955)caG>caT	p.Q985H	TRPM7_ENST00000560955.1_Missense_Mutation_p.Q985H	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	985					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Q985H(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAGGTCCTGCCTGTTGATTTA	0.299																																						uc001zyt.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10						c.(2953-2955)CAG>CAT		transient receptor potential cation channel,							73.0	68.0	70.0					15																	50897096		1822	4083	5905	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50897096C>A	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2955G>T	15.37:g.50897096C>A	ENSP00000320239:p.Gln985His					TRPM7_uc010bew.1_Missense_Mutation_p.Q985H|TRPM7_uc001zyu.2_Missense_Mutation_p.Q543H	p.Q985H	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	21	3219	-			985			Cytoplasmic (Potential).		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.2955G>T	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	5.780	0.328199	0.10956	.	.	ENSG00000092439	ENST00000313478	T	0.75938	-0.98	5.63	2.7	0.31948	Ion transport (1);	0.062173	0.64402	D	0.000002	T	0.50240	0.1604	N	0.12182	0.205	0.47245	D	0.999361	B	0.09022	0.002	B	0.14578	0.011	T	0.34650	-0.9820	10	0.15952	T	0.53	-7.2895	7.2379	0.26079	0.1245:0.6855:0.0:0.19	.	985	Q96QT4	TRPM7_HUMAN	H	985	ENSP00000320239:Q985H	ENSP00000320239:Q985H	Q	-	3	2	TRPM7	48684388	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.306000	0.19279	1.375000	0.46248	0.585000	0.79938	CAG		PASS	0.299	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		9	9	9	9	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54305590	54305590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:54305590G>T	ENST00000260323.11	+	1	490	c.490G>T	c.(490-492)Gag>Tag	p.E164*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E164*|UNC13C_ENST00000545554.1_Nonsense_Mutation_p.E164*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	164					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.E164*(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCACCCTCTGAGGGCAGCTC	0.453																																						uc002ack.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(490-492)GAG>TAG		unc-13 homolog C							101.0	101.0	101.0					15																	54305590		1990	4154	6144	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305590G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.490G>T	15.37:g.54305590G>T	ENSP00000260323:p.Glu164*						p.E164*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	490	+			164					Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.490G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	38	6.994292	0.97990	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.6434	0.88143	0.0:0.0:1.0:0.0	.	.	.	.	X	164	.	ENSP00000260323:E164X	E	+	1	0	UNC13C	52092882	1.000000	0.71417	0.980000	0.43619	0.980000	0.70556	7.796000	0.85898	2.394000	0.81467	0.655000	0.94253	GAG		PASS	0.453	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		17	25	17	25	---	---	---	---
MEGF11	84465	broad.mit.edu	37	15	66223228	66223228	+	Silent	SNP	C	C	A	rs201129046		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:66223228C>A	ENST00000409699.2	-	11	1513	c.1341G>T	c.(1339-1341)tcG>tcT	p.S447S	MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Silent_p.S447S|MEGF11_ENST00000288745.3_Silent_p.S372S|MEGF11_ENST00000422354.1_Silent_p.S447S|MEGF11_ENST00000395625.2_Silent_p.S372S			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	447	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S447S(1)|p.S372S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TACAGATGGACGAGCAGTTGG	0.557																																						uc002apm.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(1339-1341)TCG>TCT		multiple EGF-like-domains 11 precursor							115.0	81.0	92.0					15																	66223228		2201	4299	6500	SO:0001819	synonymous_variant	84465					basolateral plasma membrane|integral to membrane		g.chr15:66223228C>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1341G>T	15.37:g.66223228C>A						MEGF11_uc002apl.2_Silent_p.S372S|MEGF11_uc002apn.1_Silent_p.S447S	p.S447S	NM_032445	NP_115821	A6BM72	MEG11_HUMAN			11	1482	-			447			EGF-like 8.		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Silent	SNP	ENST00000409699.2	37	c.1341G>T	CCDS10213.2																																																																																				PASS	0.557	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		17	28	17	28	---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73408948	73408948	+	Missense_Mutation	SNP	A	A	T	rs200575571		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:73408948A>T	ENST00000339362.5	+	3	645	c.198A>T	c.(196-198)agA>agT	p.R66S	NEO1_ENST00000558964.1_Missense_Mutation_p.R66S|NEO1_ENST00000261908.6_Missense_Mutation_p.R66S|NEO1_ENST00000560262.1_Missense_Mutation_p.R66S			Q92859	NEO1_HUMAN	neogenin 1	66	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R66S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TCTCAGTTAGAGGCTCTTCTG	0.358																																						uc002avm.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(196-198)AGA>AGT		neogenin homolog 1 precursor							72.0	76.0	75.0					15																	73408948		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73408948A>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.198A>T	15.37:g.73408948A>T	ENSP00000341198:p.Arg66Ser					NEO1_uc010ukx.1_Missense_Mutation_p.R66S|NEO1_uc010uky.1_Missense_Mutation_p.R66S|NEO1_uc010ukz.1_5'UTR	p.R66S	NM_002499	NP_002490	Q92859	NEO1_HUMAN			2	340	+			66			Extracellular (Potential).|Ig-like C2-type 1.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.198A>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.008090	0.75046	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.11930	2.73;2.73	5.93	4.81	0.61882	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.13586	0.0329	N	0.05487	-0.04	0.58432	D	0.999999	D;P;D	0.89917	1.0;0.602;0.986	D;B;D	0.87578	0.998;0.341;0.914	T	0.38972	-0.9636	10	0.17369	T	0.5	-20.4238	5.0969	0.14739	0.7127:0.0:0.1448:0.1425	.	66;66;66	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	S	66	ENSP00000341198:R66S;ENSP00000261908:R66S	ENSP00000261908:R66S	R	+	3	2	NEO1	71196001	0.997000	0.39634	0.997000	0.53966	0.995000	0.86356	0.617000	0.24359	1.065000	0.40693	0.482000	0.46254	AGA		PASS	0.358	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		39	88	39	88	---	---	---	---
NEO1	4756	broad.mit.edu	37	15	73414925	73414925	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:73414925A>G	ENST00000339362.5	+	4	955	c.508A>G	c.(508-510)Att>Gtt	p.I170V	NEO1_ENST00000558964.1_Missense_Mutation_p.I170V|NEO1_ENST00000261908.6_Missense_Mutation_p.I170V|NEO1_ENST00000560262.1_Missense_Mutation_p.I170V			Q92859	NEO1_HUMAN	neogenin 1	170	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.I170V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAACAATGCAATTCTGAATTG	0.383																																						uc002avm.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(508-510)ATT>GTT		neogenin homolog 1 precursor							105.0	100.0	102.0					15																	73414925		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73414925A>G	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.508A>G	15.37:g.73414925A>G	ENSP00000341198:p.Ile170Val					NEO1_uc010ukx.1_Missense_Mutation_p.I170V|NEO1_uc010uky.1_Missense_Mutation_p.I170V|NEO1_uc010ukz.1_5'UTR	p.I170V	NM_002499	NP_002490	Q92859	NEO1_HUMAN			3	650	+			170			Extracellular (Potential).|Ig-like C2-type 2.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.508A>G	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	A	2.657	-0.280646	0.05642	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.37411	1.2;1.2	5.38	-9.14	0.00701	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.477477	0.22739	N	0.056235	T	0.11793	0.0287	N	0.01742	-0.745	0.22412	N	0.999125	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.001;0.001;0.004	T	0.15065	-1.0450	10	0.09338	T	0.73	-2.6774	21.2985	0.99951	0.248:0.0:0.752:0.0	.	170;170;170	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	V	170	ENSP00000341198:I170V;ENSP00000261908:I170V	ENSP00000261908:I170V	I	+	1	0	NEO1	71201978	0.068000	0.21057	0.002000	0.10522	0.974000	0.67602	0.238000	0.18004	-1.902000	0.01094	0.477000	0.44152	ATT		PASS	0.383	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		5	79	5	79	---	---	---	---
GOLGA6A	342096	broad.mit.edu	37	15	74364586	74364586	+	Silent	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:74364586T>C	ENST00000290438.3	-	14	1606	c.1566A>G	c.(1564-1566)ccA>ccG	p.P522P	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	522						Golgi apparatus (GO:0005794)		p.P522P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						CCAGGTCCTCTGGGATGTTTG	0.637																																						uc002axa.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1564-1566)CCA>CCG		golgi autoantigen, golgin subfamily a, 6							31.0	57.0	47.0					15																	74364586		1387	2510	3897	SO:0001819	synonymous_variant	342096							g.chr15:74364586T>C	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1566A>G	15.37:g.74364586T>C						uc010ulg.1_5'Flank	p.P522P	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN			14	1607	-			522			Potential.		A8K959|Q9NYA7	Silent	SNP	ENST00000290438.3	37	c.1566A>G	CCDS32290.1																																																																																				PASS	0.637	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		4	113	4	113	---	---	---	---
FAM154B	283726	broad.mit.edu	37	15	82575389	82575389	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:82575389G>T	ENST00000339465.5	+	3	1252	c.1183G>T	c.(1183-1185)Gtg>Ttg	p.V395L	FAM154B_ENST00000427381.2_Missense_Mutation_p.V380L|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	395								p.V395L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TATTCCTGCAGTGAAGGCCTT	0.358																																						uc002bgv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1183-1185)GTG>TTG		hypothetical protein LOC283726							37.0	38.0	38.0					15																	82575389		2199	4290	6489	SO:0001583	missense	283726							g.chr15:82575389G>T	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.1183G>T	15.37:g.82575389G>T	ENSP00000340445:p.Val395Leu					FAM154B_uc010unr.1_Missense_Mutation_p.V380L|FAM154B_uc010uns.1_RNA	p.V395L	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN			3	1252	+			395					B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	c.1183G>T	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	G	9.731	1.162390	0.21538	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.18810	2.46;2.19	3.84	1.83	0.25207	.	0.531595	0.16621	N	0.206467	T	0.14743	0.0356	L	0.46157	1.445	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.19386	-1.0307	10	0.27785	T	0.31	0.0186	3.7581	0.08593	0.2215:0.2174:0.5611:0.0	.	380;395	B4E2M2;Q658L1	.;F154B_HUMAN	L	395;380	ENSP00000340445:V395L;ENSP00000403743:V380L	ENSP00000340445:V395L	V	+	1	0	FAM154B	80362444	0.044000	0.20184	0.184000	0.23157	0.037000	0.13140	0.389000	0.20751	0.711000	0.32018	0.398000	0.26397	GTG		PASS	0.358	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226		20	30	20	30	---	---	---	---
LRRC28	123355	broad.mit.edu	37	15	99796311	99796311	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:99796311G>T	ENST00000301981.3	+	2	389	c.149G>T	c.(148-150)aGg>aTg	p.R50M	LRRC28_ENST00000442993.2_Missense_Mutation_p.R50M|LRRC28_ENST00000331450.5_Missense_Mutation_p.R50M|LRRC28_ENST00000558879.1_Missense_Mutation_p.R50M|LRRC28_ENST00000447360.2_Missense_Mutation_p.R50M|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000422500.2_Missense_Mutation_p.R50M|AC022819.1_ENST00000581052.1_RNA	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	50								p.R50M(1)		endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TATATGAAAAGGAACTCCCTG	0.348																																						uc002bva.1																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)AGG>ATG		leucine rich repeat containing 28							66.0	66.0	66.0					15																	99796311		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99796311G>T	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.149G>T	15.37:g.99796311G>T	ENSP00000304923:p.Arg50Met					LRRC28_uc010urs.1_RNA|LRRC28_uc002bvb.1_Translation_Start_Site|LRRC28_uc010urt.1_Translation_Start_Site|LRRC28_uc002bvc.1_Missense_Mutation_p.R50M|LRRC28_uc010uru.1_Missense_Mutation_p.R50M|LRRC28_uc002bvd.1_Missense_Mutation_p.R50M	p.R50M	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		2	304	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		50			LRR 2.		A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.149G>T	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912110	0.52439	.	.	ENSG00000168904	ENST00000301981;ENST00000447360;ENST00000422500;ENST00000442993;ENST00000331450	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.62	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.87578	0.998;0.993;0.997;0.997	T	0.71155	-0.4675	10	0.44086	T	0.13	.	18.686	0.91563	0.0:0.0:1.0:0.0	.	50;50;50;50	B4DHL3;Q8WUS2;Q86X40-2;Q86X40	.;.;.;LRC28_HUMAN	M	50	ENSP00000304923:R50M;ENSP00000404520:R50M;ENSP00000398606:R50M;ENSP00000404206:R50M;ENSP00000332035:R50M	ENSP00000304923:R50M	R	+	2	0	LRRC28	97613834	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.402000	0.79972	2.649000	0.89929	0.650000	0.86243	AGG		PASS	0.348	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598		20	32	20	32	---	---	---	---
OR4F6	390648	broad.mit.edu	37	15	102345983	102345983	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr15:102345983C>T	ENST00000328882.4	+	1	82	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R21W(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTCTGACTCGCGGAAGATCCA	0.498																																						uc010utr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(61-63)CGG>TGG		olfactory receptor, family 4, subfamily F,							172.0	156.0	161.0					15																	102345983		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102345983C>T	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.61C>T	15.37:g.102345983C>T	ENSP00000327525:p.Arg21Trp						p.R21W	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	61	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		21			Extracellular (Potential).		B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.61C>T	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.731197	0.00089	.	.	ENSG00000184140	ENST00000328882	T	0.00012	9.32	4.68	0.821	0.18799	.	0.157021	0.30611	N	0.009242	T	0.00039	0.0001	N	0.05230	-0.09	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41998	-0.9477	10	0.02654	T	1	.	2.7792	0.05356	0.3219:0.1803:0.0:0.4977	.	21	Q8NGB9	OR4F6_HUMAN	W	21	ENSP00000327525:R21W	ENSP00000327525:R21W	R	+	1	2	OR4F6	100163506	0.000000	0.05858	0.009000	0.14445	0.002000	0.02628	-0.331000	0.07914	0.019000	0.15079	-0.374000	0.07098	CGG		PASS	0.498	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			49	87	49	87	---	---	---	---
AQP8	343	broad.mit.edu	37	16	25232839	25232839	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:25232839G>C	ENST00000219660.5	+	3	447	c.322G>C	c.(322-324)Gtg>Ctg	p.V108L	AQP8_ENST00000566125.1_Missense_Mutation_p.V102L	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	108					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)	p.V108L(2)		NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CCTCAACCTGGTGATGCTCCT	0.627																																						uc002doc.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	3						c.(322-324)GTG>CTG		aquaporin 8							107.0	91.0	97.0					16																	25232839		2197	4300	6497	SO:0001583	missense	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25232839G>C	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.322G>C	16.37:g.25232839G>C	ENSP00000219660:p.Val108Leu						p.V108L	NM_001169	NP_001160	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	3	404	+			108			Helical; (Potential).		Q8IUU3|Q9UIA4	Missense_Mutation	SNP	ENST00000219660.5	37	c.322G>C	CCDS10626.1	.	.	.	.	.	.	.	.	.	.	G	9.375	1.071609	0.20147	.	.	ENSG00000103375	ENST00000219660	D	0.92545	-3.06	5.63	-3.28	0.05033	Aquaporin-like (2);	0.693818	0.16208	N	0.224599	T	0.72112	0.3420	N	0.03238	-0.38	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.66085	-0.6011	10	0.02654	T	1	-6.756	5.8385	0.18621	0.4045:0.2518:0.3437:0.0	.	108	O94778	AQP8_HUMAN	L	108	ENSP00000219660:V108L	ENSP00000219660:V108L	V	+	1	0	AQP8	25140340	0.000000	0.05858	0.246000	0.24233	0.966000	0.64601	-0.358000	0.07641	-0.973000	0.03555	-0.345000	0.07892	GTG		PASS	0.627	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		31	31	31	31	---	---	---	---
GDPD3	79153	broad.mit.edu	37	16	30123732	30123732	+	Silent	SNP	G	G	A	rs370168697		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:30123732G>A	ENST00000406256.3	-	5	755	c.378C>T	c.(376-378)caC>caT	p.H126H	MAPK3_ENST00000494643.1_5'Flank|RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	126	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.H126H(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GGTCTGACCCGTGAGCAAAGT	0.607											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dwp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(376-378)CAC>CAT		glycerophosphodiester phosphodiesterase domain		G		0,4394		0,0,2197	71.0	73.0	72.0		378	-8.7	0.1	16		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GDPD3	NM_024307.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		126/319	30123732	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30123732G>A	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.378C>T	16.37:g.30123732G>A			OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	814	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Silent_p.H64H|LOC100271831_uc010vei.1_5'Flank	p.H126H	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			5	457	-			126			Extracellular (Potential).|GDPD.		Q9H652	Silent	SNP	ENST00000406256.3	37	c.378C>T	CCDS10671.2																																																																																				PASS	0.607	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		15	21	15	21	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48117870	48117871	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:48117870_48117871GG>TT	ENST00000311303.3	-	28	4287_4288	c.3942_3943CC>AA	c.(3940-3945)cgCCtc>cgAAtc	p.L1315I	ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1315	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.L1315I(2)|p.R1314R(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ACTGTGTTGAGGCGGTGGGCGA	0.52																																						uc002efc.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|skin(1)	3						c.(3943-3945)CTC>ATC|c.(3940-3942)CGC>CGA		ATP-binding cassette protein C12																																				SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48117870G>T|g.chr16:48117871G>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3942_3943delinsTT	16.37:g.48117870_48117871delinsTT	ENSP00000311030:p.Leu1315Ile					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA	p.L1315I|p.R1314R	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			28	4289|4288	-		all_cancers(37;0.0474)|all_lung(18;0.047)	1315|1314			ABC transporter 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation|Silent	SNP	ENST00000311303.3	37	c.3943C>A|c.3942C>A	CCDS10730.1																																																																																				PASS	0.520	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		33	49	33	49	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51174581	51174581	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:51174581C>T	ENST00000251020.4	-	2	1585	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.D421N|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	518					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D518N(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGGATATTGTCCAAATGCTCA	0.517																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(3)	8						c.(1552-1554)GAC>AAC		sal-like 1 isoform a							108.0	98.0	101.0					16																	51174581		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174581C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1552G>A	16.37:g.51174581C>T	ENSP00000251020:p.Asp518Asn					SALL1_uc010vgr.1_Missense_Mutation_p.D421N|SALL1_uc010cbv.2_Intron	p.D518N	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1583	-		all_cancers(37;0.0322)	518					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1552G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297864	0.81025	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.09163	3.01;3.01	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.32428	-0.9907	10	0.54805	T	0.06	.	19.3378	0.94326	0.0:1.0:0.0:0.0	.	518	Q9NSC2	SALL1_HUMAN	N	518;421;482	ENSP00000251020:D518N;ENSP00000407914:D421N	ENSP00000251020:D518N	D	-	1	0	SALL1	49732082	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.561000	0.86390	0.563000	0.77884	GAC		PASS	0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		26	53	26	53	---	---	---	---
CES1	1066	broad.mit.edu	37	16	55855365	55855365	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:55855365T>C	ENST00000361503.4	-	5	735	c.605A>G	c.(604-606)cAg>cGg	p.Q202R	CES1_ENST00000360526.3_Missense_Mutation_p.Q203R|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000422046.2_Missense_Mutation_p.Q202R			P23141	EST1_HUMAN	carboxylesterase 1	202					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.Q203R(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	AATGTTGTCCTGGACCCAGCG	0.582																																					NSCLC(162;1801 2756 42904 52896)	uc002eim.2																			1	Substitution - Missense(1)		lung(1)		0						c.(604-606)CAG>CGG		carboxylesterase 1 isoform b precursor	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						57.0	59.0	58.0					16																	55855365		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55855365T>C	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.605A>G	16.37:g.55855365T>C	ENSP00000355193:p.Gln202Arg					CES1_uc002eil.2_Missense_Mutation_p.Q203R|CES1_uc002ein.2_Missense_Mutation_p.Q202R	p.Q202R	NM_001025194	NP_001020365	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	5	713	-			202					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.605A>G	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	19.06	3.753255	0.69648	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.68765	-0.35;-0.35;-0.35	4.18	4.18	0.49190	Carboxylesterase, type B (1);	0.109437	0.41500	D	0.000868	T	0.74935	0.3782	L	0.52011	1.625	0.50039	D	0.999845	D;D;D	0.64830	0.994;0.994;0.992	D;D;D	0.74674	0.984;0.984;0.973	T	0.75844	-0.3174	10	0.54805	T	0.06	.	11.2358	0.48940	0.0:0.0:0.0:1.0	.	202;202;203	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	R	203;202;202;67	ENSP00000353720:Q203R;ENSP00000355193:Q202R;ENSP00000390492:Q202R	ENSP00000353720:Q203R	Q	-	2	0	CES1	54412866	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.183000	0.77697	1.552000	0.49463	0.374000	0.22700	CAG		PASS	0.582	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		16	18	16	18	---	---	---	---
SLC12A3	6559	broad.mit.edu	37	16	56936405	56936405	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:56936405G>A	ENST00000563236.1	+	24	2866	c.2841G>A	c.(2839-2841)acG>acA	p.T947T	SLC12A3_ENST00000566786.1_Silent_p.T955T|SLC12A3_ENST00000438926.2_Silent_p.T956T|SLC12A3_ENST00000262502.5_Silent_p.T946T			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	947					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.T956T(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGGAGATTACGAAGAACAGAG	0.582																																						uc010ccm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(2839-2841)ACG>ACA		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						75.0	67.0	69.0					16																	56936405		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56936405G>A		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2841G>A	16.37:g.56936405G>A						SLC12A3_uc002ekd.3_Silent_p.T956T|SLC12A3_uc010ccn.2_Silent_p.T955T	p.T947T	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			24	2870	+			947			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.2841G>A	CCDS58464.1																																																																																				PASS	0.582	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			17	29	17	29	---	---	---	---
CCDC102A	92922	broad.mit.edu	37	16	57550347	57550347	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:57550347C>T	ENST00000258214.2	-	7	1523	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	426								p.G426D(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CTTCAGCTTGCCATGCACATG	0.627																																						uc002elw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1276-1278)GGC>GAC		coiled-coil domain containing 102A							54.0	42.0	46.0					16																	57550347		2198	4300	6498	SO:0001583	missense	92922							g.chr16:57550347C>T	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1277G>A	16.37:g.57550347C>T	ENSP00000258214:p.Gly426Asp						p.G426D	NM_033212	NP_149989	Q96A19	C102A_HUMAN			7	1490	-			426					Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	c.1277G>A	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	c	14.01	2.407711	0.42715	.	.	ENSG00000135736	ENST00000258214	T	0.73789	-0.78	4.13	1.97	0.26223	.	0.541363	0.18933	U	0.127143	T	0.57932	0.2087	N	0.14661	0.345	0.29195	N	0.875612	B	0.20988	0.05	B	0.23852	0.049	T	0.58896	-0.7555	10	0.62326	D	0.03	-19.1572	12.0864	0.53700	0.0:0.4153:0.5847:0.0	.	426	Q96A19	C102A_HUMAN	D	426	ENSP00000258214:G426D	ENSP00000258214:G426D	G	-	2	0	CCDC102A	56107848	0.994000	0.37717	0.994000	0.49952	0.991000	0.79684	2.443000	0.44881	0.930000	0.37217	0.466000	0.42574	GGC		PASS	0.627	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		11	12	11	12	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58585531	58585531	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:58585531T>A	ENST00000317147.5	-	23	3495	c.3163A>T	c.(3163-3165)Acc>Tcc	p.T1055S	CNOT1_ENST00000569240.1_Missense_Mutation_p.T1050S|CNOT1_ENST00000441024.2_Missense_Mutation_p.T1055S|CNOT1_ENST00000245138.4_5'Flank|SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000569732.1_5'UTR	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1055					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.T1055S(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTTGGCCTGGTGACCGTAACC	0.438																																						uc002env.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(3163-3165)ACC>TCC		CCR4-NOT transcription complex, subunit 1							128.0	121.0	124.0					16																	58585531		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58585531T>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3163A>T	16.37:g.58585531T>A	ENSP00000320949:p.Thr1055Ser					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.T1050S|CNOT1_uc002enx.2_Missense_Mutation_p.T1055S|CNOT1_uc002enz.1_Missense_Mutation_p.T484S|CNOT1_uc010vik.1_Missense_Mutation_p.T51S|SNORA46_uc002eny.1_5'Flank	p.T1055S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	23	3456	-			1055					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.3163A>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191633	0.58017	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.44482	0.95;0.92	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	L	0.31065	0.9	0.80722	D	1	D;B;B	0.56035	0.974;0.001;0.008	D;B;B	0.70487	0.969;0.0;0.007	T	0.32402	-0.9908	10	0.07325	T	0.83	.	15.651	0.77091	0.0:0.0:0.0:1.0	.	1055;1055;1050	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	S	1055;484;1050;1055	ENSP00000320949:T1055S;ENSP00000413113:T1055S	ENSP00000320949:T1055S	T	-	1	0	CNOT1	57143032	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.308000	0.51896	2.101000	0.63845	0.460000	0.39030	ACC		PASS	0.438	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		37	63	37	63	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61859083	61859083	+	Splice_Site	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:61859083G>T	ENST00000577390.1	-	5	1622	c.668C>A	c.(667-669)gCt>gAt	p.A223D	CDH8_ENST00000584337.1_Splice_Site_p.A223D|CDH8_ENST00000299345.6_Splice_Site_p.A223D|CDH8_ENST00000577730.1_Splice_Site_p.A223D	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	223	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.A223D(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTTATAATAGCTGAGGGGGA	0.438																																						uc002eog.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(667-669)GCT>GAT		cadherin 8, type 2 preproprotein							79.0	71.0	74.0					16																	61859083		2203	4300	6503	SO:0001630	splice_region_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61859083G>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.668-1C>A	16.37:g.61859083G>T						CDH8_uc002eoh.2_5'UTR	p.A223D	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	5	920	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	223			Extracellular (Potential).|Cadherin 2.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.668C>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173016	0.78452	.	.	ENSG00000150394	ENST00000299345	T	0.60040	0.22	6.02	6.02	0.97574	Cadherin (4);Cadherin-like (1);	0.046012	0.85682	D	0.000000	T	0.59555	0.2202	N	0.22421	0.69	0.80722	D	1	B	0.29432	0.244	B	0.43386	0.418	T	0.60301	-0.7290	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	223	P55286	CADH8_HUMAN	D	223	ENSP00000299345:A223D	ENSP00000299345:A223D	A	-	2	0	CDH8	60416584	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.750000	0.47500	2.857000	0.98124	0.650000	0.86243	GCT		PASS	0.438	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	Missense_Mutation	14	30	14	30	---	---	---	---
EXOC3L1	283849	broad.mit.edu	37	16	67221658	67221658	+	Missense_Mutation	SNP	C	C	A	rs540679502		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:67221658C>A	ENST00000314586.6	-	5	750	c.510G>T	c.(508-510)gaG>gaT	p.E170D	EXOC3L1_ENST00000562887.1_Intron	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	170	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)		p.E170D(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTCGCAGCTGCTCCAGCTCCC	0.597																																						uc002erx.1																			2	Substitution - Missense(2)		lung(2)		0						c.(508-510)GAG>GAT		exocyst complex component 3-like							45.0	52.0	50.0					16																	67221658		2198	4300	6498	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67221658C>A	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.510G>T	16.37:g.67221658C>A	ENSP00000325674:p.Glu170Asp					EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.E114D|EXOC3L_uc010vje.1_Missense_Mutation_p.E109D	p.E170D	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)	5	751	-		Ovarian(137;0.0563)	170			Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).		A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.510G>T	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920773	0.73213	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	T;T	0.38240	2.17;1.15	5.84	2.77	0.32553	.	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	M	0.80847	2.515	0.52501	D	0.999951	D;P;D	0.76494	0.971;0.952;0.999	P;P;D	0.78314	0.816;0.659;0.991	T	0.54234	-0.8324	10	0.62326	D	0.03	-19.0521	7.3871	0.26888	0.0:0.5444:0.0:0.4555	.	109;109;170	F5H4W1;B7Z6U0;Q86VI1	.;.;EX3L1_HUMAN	D	170;109;114	ENSP00000325674:E170D;ENSP00000439910:E109D	ENSP00000325008:E114D	E	-	3	2	EXOC3L1	65779159	0.849000	0.29639	1.000000	0.80357	0.993000	0.82548	-0.097000	0.11042	0.332000	0.23536	0.650000	0.86243	GAG		PASS	0.597	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		20	32	20	32	---	---	---	---
PLEKHG4	25894	broad.mit.edu	37	16	67322470	67322470	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:67322470G>C	ENST00000360461.5	+	20	6068	c.3533G>C	c.(3532-3534)gGg>gCg	p.G1178A	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.G1097A|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.G1178A|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.G1178A	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1178							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1178A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGTGTGTCAGGGCAGGCCCTG	0.612																																						uc002eso.3																			1	Substitution - Missense(1)		lung(1)	skin(1)|pancreas(1)	2						c.(3532-3534)GGG>GCG		pleckstrin homology domain containing, family G							97.0	103.0	101.0					16																	67322470		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67322470G>C	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.3533G>C	16.37:g.67322470G>C	ENSP00000353646:p.Gly1178Ala					PLEKHG4_uc002esp.3_Missense_Mutation_p.G985A|PLEKHG4_uc002esq.3_Missense_Mutation_p.G1178A|PLEKHG4_uc010cef.2_Missense_Mutation_p.G1178A|PLEKHG4_uc002ess.3_Missense_Mutation_p.G1178A|PLEKHG4_uc010ceg.2_Missense_Mutation_p.G1097A	p.G1178A	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	20	6068	+			1178					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.3533G>C	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006444	0.74932	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.10288	2.89;2.89;2.89;2.97	5.43	5.43	0.79202	.	0.241181	0.21602	N	0.071926	T	0.26304	0.0642	L	0.57536	1.79	0.28667	N	0.905846	D;P	0.76494	0.999;0.698	D;B	0.87578	0.998;0.338	T	0.08126	-1.0737	10	0.66056	D	0.02	.	8.4631	0.32940	0.1645:0.0:0.8355:0.0	.	1097;1178	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	A	1178;1178;1178;1097	ENSP00000353646:G1178A;ENSP00000401118:G1178A;ENSP00000368649:G1178A;ENSP00000398030:G1097A	ENSP00000353646:G1178A	G	+	2	0	PLEKHG4	65879971	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	2.005000	0.40864	2.532000	0.85374	0.561000	0.74099	GGG		PASS	0.612	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		40	66	40	66	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77331223	77331223	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:77331223C>G	ENST00000282849.5	-	18	3182	c.2764G>C	c.(2764-2766)Gag>Cag	p.E922Q		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	922					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E922Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTTTGGGCTCAGTTACTGGC	0.398																																						uc002ffc.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(2764-2766)GAG>CAG		ADAM metallopeptidase with thrombospondin type 1							185.0	178.0	181.0					16																	77331223		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77331223C>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2764G>C	16.37:g.77331223C>G	ENSP00000282849:p.Glu922Gln					ADAMTS18_uc010chc.1_Missense_Mutation_p.E510Q|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E618Q	p.E922Q	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			18	3183	-			922					Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2764G>C	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	12.64	2.000117	0.35320	.	.	ENSG00000140873	ENST00000282849	T	0.63096	-0.02	6.06	5.09	0.68999	.	0.263230	0.38605	N	0.001636	T	0.50514	0.1620	L	0.33753	1.03	0.43608	D	0.995976	B;B	0.19200	0.026;0.034	B;B	0.17433	0.018;0.017	T	0.43909	-0.9362	10	0.13470	T	0.59	.	15.7097	0.77615	0.1376:0.8624:0.0:0.0	.	922;922	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	Q	922	ENSP00000282849:E922Q	ENSP00000282849:E922Q	E	-	1	0	ADAMTS18	75888724	0.999000	0.42202	0.878000	0.34440	0.906000	0.53458	4.214000	0.58527	1.514000	0.48869	0.655000	0.94253	GAG		PASS	0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			43	53	43	53	---	---	---	---
SLC38A8	146167	broad.mit.edu	37	16	84050257	84050257	+	Silent	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:84050257C>A	ENST00000299709.3	-	8	1028	c.1029G>T	c.(1027-1029)ggG>ggT	p.G343G		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	343					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.G343G(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGACCCACAGCCCTGAGGGGT	0.647																																						uc002fhg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1027-1029)GGG>GGT		solute carrier family 38, member 8							51.0	52.0	52.0					16																	84050257		2200	4300	6500	SO:0001819	synonymous_variant	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84050257C>A		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1029G>T	16.37:g.84050257C>A							p.G343G	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			8	1029	-			343						Silent	SNP	ENST00000299709.3	37	c.1029G>T	CCDS32495.1																																																																																				PASS	0.647	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		3	47	3	47	---	---	---	---
KCNG4	93107	broad.mit.edu	37	16	84270958	84270958	+	Missense_Mutation	SNP	C	C	T	rs199803012		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:84270958C>T	ENST00000308251.4	-	2	202	c.134G>A	c.(133-135)cGg>cAg	p.R45Q	KCNG4_ENST00000568181.1_Missense_Mutation_p.R45Q	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	45					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R45Q(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						ACCCACCTTCCGCACCCTCCG	0.627													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18263	0.0		0.0	False		,,,				2504	0.0					uc010voc.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(133-135)CGG>CAG		potassium voltage-gated channel, subfamily G,		T	GLN/ARG	0,4400		0,0,2200	36.0	37.0	36.0		134	3.2	0.2	16		36	2,8598	2.2+/-6.3	0,2,4298	yes	missense	KCNG4	NM_172347.2	43	0,2,6498	TT,TC,CC		0.0233,0.0,0.0154	benign	45/520	84270958	2,12998	2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270958C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.134G>A	16.37:g.84270958C>T	ENSP00000312129:p.Arg45Gln					KCNG4_uc002fhu.1_Missense_Mutation_p.R45Q	p.R45Q	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			2	255	-			45			Cytoplasmic (Potential).		Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.134G>A	CCDS10945.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	10.24	1.294892	0.23564	0.0	2.33E-4	ENSG00000168418	ENST00000308251	D	0.96427	-4.01	5.12	3.18	0.36537	.	2.863780	0.02165	N	0.059130	D	0.92753	0.7696	L	0.29908	0.895	0.28123	N	0.930531	B;B	0.27450	0.048;0.179	B;B	0.20384	0.017;0.029	D	0.83582	0.0118	10	0.24483	T	0.36	.	8.2741	0.31862	0.0:0.7588:0.0:0.2412	.	45;45	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	Q	45	ENSP00000312129:R45Q	ENSP00000312129:R45Q	R	-	2	0	KCNG4	82828459	0.902000	0.30710	0.158000	0.22627	0.724000	0.41520	1.139000	0.31504	0.572000	0.29383	-0.230000	0.12252	CGG		PASS	0.627	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		17	30	17	30	---	---	---	---
FANCA	2175	broad.mit.edu	37	16	89816153	89816153	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr16:89816153A>G	ENST00000389301.3	-	32	3254	c.3224T>C	c.(3223-3225)cTg>cCg	p.L1075P	FANCA_ENST00000568369.1_Missense_Mutation_p.L1075P	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1075					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L1075P(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTACATTAGCAGCTCCCTCTG	0.577			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(3223-3225)CTG>CCG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							76.0	58.0	64.0					16																	89816153		2198	4300	6498	SO:0001583	missense	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89816153A>G	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3224T>C	16.37:g.89816153A>G	ENSP00000373952:p.Leu1075Pro					FANCA_uc010vpn.1_Missense_Mutation_p.L1075P|FANCA_uc010vpo.1_Missense_Mutation_p.L161P	p.L1075P	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	32	3266	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1075					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.3224T>C	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.015127	0.35511	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.90324	-2.65	4.2	4.2	0.49525	.	0.577417	0.14773	N	0.299255	D	0.94318	0.8174	M	0.74881	2.28	0.80722	D	1	D;P;D	0.89917	0.982;0.945;1.0	P;P;D	0.72625	0.831;0.71;0.978	D	0.93860	0.7153	10	0.87932	D	0	-8.8366	11.0467	0.47863	1.0:0.0:0.0:0.0	.	52;1075;1075	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	P	1075;52	ENSP00000373952:L1075P	ENSP00000306281:L52P	L	-	2	0	FANCA	88343654	1.000000	0.71417	0.897000	0.35233	0.019000	0.09904	4.366000	0.59492	1.898000	0.54952	0.454000	0.30748	CTG		PASS	0.577	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			5	15	5	15	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (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.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)	ATGGCGCGGACGCGGGTGCCG	0.617		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		231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(139)|p.V157I(10)|p.V157D(8)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.V157V(5)|p.V157fs*13(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(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						c.(469-471)GTC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	52.0	51.0					17																	7578461		2202	4300	6502	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.chr17:7578461C>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.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe	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.V157F|TP53_uc002gih.2_Missense_Mutation_p.V157F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V25F|TP53_uc010cng.1_Missense_Mutation_p.V25F|TP53_uc002gii.1_Missense_Mutation_p.V25F|TP53_uc010cnh.1_Missense_Mutation_p.V157F|TP53_uc010cni.1_Missense_Mutation_p.V157F|TP53_uc002gij.2_Missense_Mutation_p.V157F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V64F|TP53_uc002gio.2_Missense_Mutation_p.V25F|TP53_uc010vug.1_Missense_Mutation_p.V118F	p.V157F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	663	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.469G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		PASS	0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	19	21	19	---	---	---	---
RCVRN	5957	broad.mit.edu	37	17	9808247	9808247	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr17:9808247T>C	ENST00000226193.5	-	1	691	c.251A>G	c.(250-252)aAg>aGg	p.K84R		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	84	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.K84R(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GACGTACTCCTTGAAGTCCAG	0.607																																						uc002gme.1																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)AAG>AGG		recoverin							187.0	139.0	155.0					17																	9808247		2203	4300	6503	SO:0001583	missense	5957				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr17:9808247T>C	BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.251A>G	17.37:g.9808247T>C	ENSP00000226193:p.Lys84Arg						p.K84R	NM_002903	NP_002894	P35243	RECO_HUMAN			1	438	-			84			EF-hand 2.|1; low affinity (By similarity).		Q53XL0	Missense_Mutation	SNP	ENST00000226193.5	37	c.251A>G	CCDS11151.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.758372	0.31137	.	.	ENSG00000109047	ENST00000226193	T	0.56444	0.46	4.87	3.78	0.43462	EF-hand-like domain (1);	0.050423	0.64402	D	0.000001	T	0.30166	0.0756	N	0.20357	0.565	0.80722	D	1	B	0.27286	0.174	B	0.28849	0.095	T	0.13629	-1.0502	10	0.02654	T	1	.	8.2473	0.31695	0.0:0.096:0.0:0.904	.	84	P35243	RECO_HUMAN	R	84	ENSP00000226193:K84R	ENSP00000226193:K84R	K	-	2	0	RCVRN	9748972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.885000	0.63142	1.950000	0.56595	0.533000	0.62120	AAG		PASS	0.607	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903		23	9	23	9	---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10555833	10555834	+	Missense_Mutation	DNP	CT	CT	TA	rs147410236		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr17:10555833_10555834CT>TA	ENST00000583535.1	-	4	338_339	c.251_252AG>TA	c.(250-252)aAG>aTA	p.K84I	MYH3_ENST00000226209.7_Missense_Mutation_p.K84I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	84					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.K84I(1)|p.K84K(1)|p.K84M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCCTGTCGAACTTGGGGGGGTT	0.5																																						uc002gmq.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(250-252)AAG>AAA|c.(250-252)AAG>ATG		myosin, heavy chain 3, skeletal muscle,																																				SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10555833C>T|g.chr17:10555834T>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.251_252delinsTA	17.37:g.10555833_10555834delinsTA	ENSP00000464317:p.Lys84Ile						p.K84K|p.K84M	NM_002470	NP_002461	P11055	MYH3_HUMAN			3	329|328	-			84			Myosin head-like.		Q15492	Silent|Missense_Mutation	SNP	ENST00000583535.1	37	c.252G>A|c.251A>T	CCDS11157.1																																																																																				PASS	0.500	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		16|17	10	16	10	---	---	---	---
PIRT	644139	broad.mit.edu	37	17	10728806	10728806	+	Missense_Mutation	SNP	G	G	T	rs200908584		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr17:10728806G>T	ENST00000580256.2	-	2	795	c.157C>A	c.(157-159)Cgc>Agc	p.R53S		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	53						integral component of membrane (GO:0016021)		p.R53S(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						ATGGGCTTGCGGTAGATTTCC	0.587																																						uc010col.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(157-159)CGC>AGC		phosphoinositide-interacting regulator of							57.0	60.0	59.0					17																	10728806		2073	4192	6265	SO:0001583	missense	644139					integral to membrane		g.chr17:10728806G>T	AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"""phosphoinositide-interacting regulator of TRPV1"""	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.157C>A	17.37:g.10728806G>T	ENSP00000462046:p.Arg53Ser						p.R53S	NM_001101387	NP_001094857	P0C851	PIRT_HUMAN			2	452	-			53					B7Z648	Missense_Mutation	SNP	ENST00000580256.2	37	c.157C>A	CCDS45614.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411269	0.62399	.	.	ENSG00000233670	ENST00000441732	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	T	0.33556	0.0867	N	0.19112	0.55	0.31180	N	0.70221	P	0.39157	0.662	B	0.38378	0.272	T	0.40496	-0.9560	8	0.59425	D	0.04	-15.4202	16.8609	0.86018	0.0:0.0:1.0:0.0	.	53	P0C851	PIRT_HUMAN	S	53	.	ENSP00000408936:R53S	R	-	1	0	PIRT	10669531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.888000	0.56204	2.840000	0.97914	0.655000	0.94253	CGC		PASS	0.587	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441078.2	NM_001101387		10	10	10	10	---	---	---	---
ASIC2	40	broad.mit.edu	37	17	32483084	32483084	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr17:32483084G>A	ENST00000359872.6	-	1	1229	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	156					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)	p.F156F(1)								Amiloride(DB00594)	CACGGTGCAGGAACTCCAGCA	0.577																																						uc002hhu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(466-468)TTC>TTT		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						104.0	111.0	108.0					17																	32483084		2128	4252	6380	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483084G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.468C>T	17.37:g.32483084G>A							p.F156F	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	1	742	-		Breast(31;0.042)|Ovarian(249;0.202)	156			Extracellular (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.468C>T	CCDS42296.1																																																																																				PASS	0.577	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		42	30	42	30	---	---	---	---
ARSG	22901	broad.mit.edu	37	17	66303806	66303806	+	Missense_Mutation	SNP	A	A	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr17:66303806A>C	ENST00000448504.2	+	2	968	c.172A>C	c.(172-174)Aca>Cca	p.T58P	ARSG_ENST00000452479.2_Intron	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	58					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.T58P(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGGGCAGAAACAAAGGACAC	0.488																																						uc002jhc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(172-174)ACA>CCA		Arylsulfatase G precursor							91.0	78.0	83.0					17																	66303806		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66303806A>C	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.172A>C	17.37:g.66303806A>C	ENSP00000407193:p.Thr58Pro					ARSG_uc002jhb.1_Intron	p.T58P	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		2	968	+			58					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.172A>C	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.573317	0.45902	.	.	ENSG00000141337	ENST00000452479	.	.	.	5.59	3.41	0.39046	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.437004	0.24490	N	0.038067	T	0.50086	0.1595	L	0.59436	1.845	0.80722	D	1	B	0.24132	0.098	B	0.28916	0.096	T	0.45571	-0.9252	9	0.52906	T	0.07	.	4.4818	0.11771	0.6606:0.1677:0.1716:0.0	.	58	Q96EG1	ARSG_HUMAN	P	58	.	ENSP00000413953:T58P	T	+	1	0	ARSG	63815401	0.765000	0.28485	0.991000	0.47740	0.997000	0.91878	1.866000	0.39489	0.429000	0.26202	0.460000	0.39030	ACA		PASS	0.488	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		9	26	9	26	---	---	---	---
TRIM65	201292	broad.mit.edu	37	17	73887267	73887267	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr17:73887267G>T	ENST00000269383.3	-	6	1212	c.1147C>A	c.(1147-1149)Cac>Aac	p.H383N		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	383	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.H383N(2)		endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGTAGTGGTGCCCGGCCTGG	0.672																																						uc002jpx.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)		0						c.(1147-1149)CAC>AAC		tripartite motif-containing 65							32.0	35.0	34.0					17																	73887267		2202	4294	6496	SO:0001583	missense	201292					intracellular	zinc ion binding	g.chr17:73887267G>T	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.1147C>A	17.37:g.73887267G>T	ENSP00000269383:p.His383Asn						p.H383N	NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1183	-			383			B30.2/SPRY.		Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	ENST00000269383.3	37	c.1147C>A	CCDS11732.1	.	.	.	.	.	.	.	.	.	.	G	5.758	0.324284	0.10900	.	.	ENSG00000141569	ENST00000269383	T	0.68331	-0.32	5.31	3.17	0.36434	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.735880	0.02966	N	0.143853	T	0.61590	0.2359	L	0.38175	1.15	0.09310	N	1	B	0.33266	0.404	B	0.36608	0.229	T	0.55192	-0.8179	10	0.59425	D	0.04	.	7.6877	0.28550	0.1431:0.0:0.6372:0.2197	.	383	Q6PJ69	TRI65_HUMAN	N	383	ENSP00000269383:H383N	ENSP00000269383:H383N	H	-	1	0	TRIM65	71398862	0.561000	0.26578	0.076000	0.20297	0.080000	0.17528	3.778000	0.55371	2.508000	0.84585	0.643000	0.83706	CAC		PASS	0.672	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		7	42	7	42	---	---	---	---
CCDC137	339230	broad.mit.edu	37	17	79634874	79634874	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr17:79634874A>G	ENST00000329214.8	+	2	653	c.250A>G	c.(250-252)Aag>Gag	p.K84E	OXLD1_ENST00000573786.1_5'Flank|OXLD1_ENST00000374741.3_5'Flank|OXLD1_ENST00000571503.1_5'Flank	NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	84							poly(A) RNA binding (GO:0044822)	p.K84E(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GATCAGTAACAAGAAGAGGAA	0.522																																						uc002kbc.3																			1	Substitution - Missense(1)	p.K84K(1)	lung(1)	central_nervous_system(1)	1						c.(250-252)AAG>GAG		coiled-coil domain containing 137							27.0	30.0	29.0					17																	79634874		1941	4125	6066	SO:0001583	missense	339230							g.chr17:79634874A>G	BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.250A>G	17.37:g.79634874A>G	ENSP00000329360:p.Lys84Glu					C17orf90_uc002kba.2_5'Flank|C17orf90_uc002kbb.2_5'Flank|CCDC137_uc002kbd.2_RNA	p.K84E	NM_199287	NP_954981	Q6PK04	CC137_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	286	+	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		84						Missense_Mutation	SNP	ENST00000329214.8	37	c.250A>G	CCDS42400.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091437	0.36952	.	.	ENSG00000185298	ENST00000329214	D	0.90444	-2.67	4.26	4.26	0.50523	.	0.535907	0.20100	N	0.099248	D	0.90508	0.7026	M	0.73962	2.25	0.35093	D	0.764547	P	0.44139	0.827	P	0.46758	0.526	D	0.92617	0.6104	10	0.54805	T	0.06	-6.5457	7.1921	0.25831	0.8891:0.0:0.1109:0.0	.	84	Q6PK04	CC137_HUMAN	E	84	ENSP00000329360:K84E	ENSP00000329360:K84E	K	+	1	0	CCDC137	77245279	0.651000	0.27340	1.000000	0.80357	0.989000	0.77384	1.758000	0.38410	1.786000	0.52430	0.460000	0.39030	AAG		PASS	0.522	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440387.1			8	11	8	11	---	---	---	---
ENOSF1	55556	broad.mit.edu	37	18	706489	706489	+	Silent	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr18:706489C>A	ENST00000251101.7	-	2	262	c.174G>T	c.(172-174)ctG>ctT	p.L58L	ENOSF1_ENST00000340116.7_Silent_p.L79L|ENOSF1_ENST00000383578.3_Missense_Mutation_p.W15L|ENOSF1_ENST00000539164.1_Silent_p.L58L|RP11-806L2.6_ENST00000580007.1_RNA|ENOSF1_ENST00000580982.1_Silent_p.L58L	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	58					cellular amino acid catabolic process (GO:0009063)|cellular carbohydrate catabolic process (GO:0044275)	mitochondrion (GO:0005739)	isomerase activity (GO:0016853)|L-fuconate dehydratase activity (GO:0050023)|magnesium ion binding (GO:0000287)	p.L58L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TGCCTTTTCCCAGAGTGAAGG	0.428																																						uc002kku.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(172-174)CTG>CTT		enolase superfamily 1 isoform rTS beta							148.0	124.0	132.0					18																	706489		2203	4300	6503	SO:0001819	synonymous_variant	55556				cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	g.chr18:706489C>A	X67098	CCDS11822.1, CCDS11823.1, CCDS45821.1	18p11.32	2005-01-26			ENSG00000132199	ENSG00000132199			30365	protein-coding gene	gene with protein product		607427				14508106	Standard	NM_001126123		Approved	HSRTSBETA, rTS, TYMSAS	uc002kku.4	Q7L5Y1	OTTHUMG00000131470	ENST00000251101.7:c.174G>T	18.37:g.706489C>A						ENOSF1_uc002kkt.3_Missense_Mutation_p.W15L|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Silent_p.L79L|ENOSF1_uc002kkv.3_Silent_p.L58L|ENOSF1_uc002kkw.3_5'UTR|ENOSF1_uc002kkx.3_Silent_p.L58L|ENOSF1_uc010wyt.1_RNA	p.L58L	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN			2	249	-			58					A6NMP3|A8K9R5|B3KSL6|B3KXE4|D3DUH0|Q15407|Q15594|Q15595|Q6ZS08|Q9HAS5|Q9HAS6	Silent	SNP	ENST00000251101.7	37	c.174G>T	CCDS11822.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640804	0.47153	.	.	ENSG00000132199	ENST00000383578	T	0.38722	1.12	5.56	4.69	0.59074	.	.	.	.	.	T	0.60702	0.2289	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	T	0.61884	-0.6971	7	.	.	.	.	9.3447	0.38100	0.0:0.8355:0.0:0.1645	.	15	Q7L5Y1-2	.	L	15	ENSP00000373072:W15L	.	W	-	2	0	ENOSF1	696489	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.090000	0.30902	1.344000	0.45657	0.561000	0.74099	TGG		PASS	0.428	ENOSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254312.2	NM_017512		35	74	35	74	---	---	---	---
ADCYAP1	116	broad.mit.edu	37	18	905402	905402	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr18:905402C>A	ENST00000579794.1	+	1	293	c.15C>A	c.(13-15)agC>agA	p.S5R	RP11-672L10.2_ENST00000580612.1_RNA|ADCYAP1_ENST00000450565.3_Missense_Mutation_p.S5R|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	5					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)	p.S5R(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CCATGTGTAGCGGAGCGAGGC	0.622																																						uc010dkg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)AGC>AGA		adenylate cyclase activating polypeptide							94.0	84.0	88.0					18																	905402		2203	4300	6503	SO:0001583	missense	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:905402C>A	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.15C>A	18.37:g.905402C>A	ENSP00000462647:p.Ser5Arg					ADCYAP1_uc010dkh.2_Missense_Mutation_p.S5R	p.S5R	NM_001099733	NP_001093203	P18509	PACA_HUMAN			2	134	+			5					B2R7N4|Q52LQ0	Missense_Mutation	SNP	ENST00000579794.1	37	c.15C>A	CCDS11825.1	.	.	.	.	.	.	.	.	.	.	C	5.405	0.259974	0.10239	.	.	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	4.91	3.11	0.35812	.	0.078358	0.85682	D	0.000000	T	0.47948	0.1473	L	0.60455	1.87	0.44439	D	0.997368	B	0.22346	0.068	B	0.21917	0.037	T	0.41016	-0.9532	9	0.46703	T	0.11	-14.3328	4.3	0.10920	0.2817:0.5056:0.1367:0.076	.	5	P18509	PACA_HUMAN	R	144;5;5	.	ENSP00000269200:S5R	S	+	3	2	ADCYAP1	895402	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.214000	0.32419	0.480000	0.27534	-0.373000	0.07131	AGC		PASS	0.622	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		22	60	22	60	---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3534287	3534287	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr18:3534287C>G	ENST00000315677.3	-	10	2979	c.2384G>C	c.(2383-2385)tGg>tCg	p.W795S	DLGAP1_ENST00000400150.3_Missense_Mutation_p.W511S|DLGAP1_ENST00000534970.1_Missense_Mutation_p.W479S|DLGAP1_ENST00000539435.1_Missense_Mutation_p.W503S|DLGAP1_ENST00000584874.1_Missense_Mutation_p.W795S|DLGAP1_ENST00000515196.2_Missense_Mutation_p.W795S|DLGAP1_ENST00000400147.2_Missense_Mutation_p.W493S|DLGAP1_ENST00000400145.2_Missense_Mutation_p.W493S|DLGAP1_ENST00000581699.1_Missense_Mutation_p.W501S|DLGAP1_ENST00000400149.3_Missense_Mutation_p.W485S|DLGAP1_ENST00000581527.1_Missense_Mutation_p.W795S|DLGAP1_ENST00000400155.1_Missense_Mutation_p.W501S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	795					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.W795S(1)|p.W503S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTTCAGGAACCAGTGGCCATC	0.587																																						uc002kmf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2383-2385)TGG>TCG		discs large homolog-associated protein 1 isoform							90.0	80.0	83.0					18																	3534287		2203	4300	6503	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3534287C>G	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2384G>C	18.37:g.3534287C>G	ENSP00000316377:p.Trp795Ser					DLGAP1_uc010wyz.1_Missense_Mutation_p.W795S|DLGAP1_uc002kme.1_Missense_Mutation_p.W493S|DLGAP1_uc010dkn.2_Missense_Mutation_p.W503S|DLGAP1_uc010wyw.1_Missense_Mutation_p.W501S|DLGAP1_uc010wyx.1_Missense_Mutation_p.W517S|DLGAP1_uc010wyy.1_Missense_Mutation_p.W479S|DLGAP1_uc002kmg.2_Missense_Mutation_p.W493S	p.W795S	NM_004746	NP_004737	O14490	DLGP1_HUMAN			7	2451	-		Colorectal(8;0.0257)	795					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.2384G>C	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498250	0.85069	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	M	0.74881	2.28	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.997;0.999;0.997;0.998;0.997;0.994	T	0.55309	-0.8161	10	0.87932	D	0	-14.7355	20.3312	0.98718	0.0:1.0:0.0:0.0	.	795;479;491;501;503;493;795;493	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	S	795;493;511;485;501;479;503;493;795	ENSP00000316377:W795S;ENSP00000383011:W493S;ENSP00000383014:W511S;ENSP00000383013:W485S;ENSP00000383019:W501S;ENSP00000437817:W479S;ENSP00000446312:W503S;ENSP00000383010:W493S;ENSP00000445973:W795S	ENSP00000316377:W795S	W	-	2	0	DLGAP1	3524287	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.797000	0.96272	0.655000	0.94253	TGG		PASS	0.587	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			14	29	14	29	---	---	---	---
ZNF519	162655	broad.mit.edu	37	18	14105711	14105711	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr18:14105711C>A	ENST00000590202.1	-	3	980	c.828G>T	c.(826-828)agG>agT	p.R276S	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	276					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R276S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GATGTAAGCCCCTGGTAAAAG	0.348																																						uc002kst.1																			1	Substitution - Missense(1)		lung(1)		0						c.(826-828)AGG>AGT		zinc finger protein 519							50.0	55.0	53.0					18																	14105711		2203	4299	6502	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105711C>A	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.828G>T	18.37:g.14105711C>A	ENSP00000464872:p.Arg276Ser					ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	p.R276S	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN			3	981	-			276						Missense_Mutation	SNP	ENST00000590202.1	37	c.828G>T	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	C	4.788	0.146440	0.09134	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-0.517	0.11947	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16300	0.0392	N	0.13299	0.325	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.26985	-1.0087	8	0.18276	T	0.48	.	3.8367	0.08897	0.0:0.4161:0.0:0.5839	.	276	Q8TB69	ZN519_HUMAN	S	276	.	ENSP00000307908:R276S	R	-	3	2	ZNF519	14095711	0.000000	0.05858	0.025000	0.17156	0.444000	0.32077	-6.089000	0.00081	-0.192000	0.10432	0.089000	0.15464	AGG		PASS	0.348	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		20	56	20	56	---	---	---	---
DSG1	1828	broad.mit.edu	37	18	28923500	28923500	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr18:28923500G>T	ENST00000257192.4	+	12	1987	c.1775G>T	c.(1774-1776)gGa>gTa	p.G592V	DSG1_ENST00000462981.2_5'Flank|RNU6-167P_ENST00000384292.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	592					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.G592V(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGTTCAGATGGAGCAATTCAT	0.488																																						uc002kwp.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1774-1776)GGA>GTA		desmoglein 1 preproprotein							176.0	148.0	157.0					18																	28923500		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28923500G>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1775G>T	18.37:g.28923500G>T	ENSP00000257192:p.Gly592Val					DSG1_uc010xbp.1_5'Flank	p.G592V	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		12	1987	+			592			Cytoplasmic (Potential).		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1775G>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991155	0.74703	.	.	ENSG00000134760	ENST00000257192	T	0.57595	0.39	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000007	T	0.65770	0.2723	M	0.79258	2.445	0.80722	D	1	D	0.58970	0.984	P	0.52424	0.698	T	0.65932	-0.6048	10	0.34782	T	0.22	.	17.0457	0.86501	0.0:0.0:1.0:0.0	.	592	Q02413	DSG1_HUMAN	V	592	ENSP00000257192:G592V	ENSP00000257192:G592V	G	+	2	0	DSG1	27177498	1.000000	0.71417	0.998000	0.56505	0.677000	0.39632	5.725000	0.68507	2.566000	0.86566	0.655000	0.94253	GGA		PASS	0.488	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		35	35	35	35	---	---	---	---
DCC	1630	broad.mit.edu	37	18	51013254	51013254	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr18:51013254C>A	ENST00000442544.2	+	26	4440	c.3824C>A	c.(3823-3825)cCg>cAg	p.P1275Q	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.P910Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1275					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.P1275Q(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATCCCCACCCGCAGTTCACT	0.537																																						uc002lfe.1																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3823-3825)CCG>CAG		netrin receptor DCC precursor							118.0	105.0	110.0					18																	51013254		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51013254C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3824C>A	18.37:g.51013254C>A	ENSP00000389140:p.Pro1275Gln					DCC_uc010dpf.1_Missense_Mutation_p.P910Q	p.P1275Q	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	26	4411	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1275			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.3824C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359684	0.41801	.	.	ENSG00000187323	ENST00000442544	T	0.39056	1.1	5.66	5.66	0.87406	Neogenin, C-terminal (1);	0.164052	0.42172	D	0.000743	T	0.53786	0.1818	L	0.44542	1.39	0.42929	D	0.994319	D	0.62365	0.991	D	0.64687	0.928	T	0.37197	-0.9716	10	0.12766	T	0.61	-5.4372	18.528	0.90980	0.0:1.0:0.0:0.0	.	1275	P43146	DCC_HUMAN	Q	1275	ENSP00000389140:P1275Q	ENSP00000389140:P1275Q	P	+	2	0	DCC	49267252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.833000	0.62766	2.671000	0.90904	0.563000	0.77884	CCG		PASS	0.537	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		22	25	22	25	---	---	---	---
TNFRSF11A	8792	broad.mit.edu	37	18	60021677	60021677	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr18:60021677G>T	ENST00000586569.1	+	4	375	c.337G>T	c.(337-339)Gcg>Tcg	p.A113S	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.A113S	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	113					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.A113S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCGGCGCTGCGCGTGCACGGC	0.731																																						uc002lin.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)	3						c.(337-339)GCG>TCG		tumor necrosis factor receptor superfamily,							12.0	15.0	14.0					18																	60021677		2148	4208	6356	SO:0001583	missense	8792	Paget_Disease_of_Bone			adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60021677G>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.337G>T	18.37:g.60021677G>T	ENSP00000465500:p.Ala113Ser					TNFRSF11A_uc010dpv.2_Missense_Mutation_p.A113S	p.A113S	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			4	375	+		Colorectal(73;0.188)	113			Extracellular (Potential).		I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.337G>T	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087442	0.76642	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.61274	0.12	5.05	4.18	0.49190	.	0.468088	0.21807	N	0.068838	T	0.55513	0.1925	L	0.45422	1.42	0.28843	N	0.896518	P;P	0.47106	0.89;0.599	P;B	0.47673	0.554;0.345	T	0.53027	-0.8496	9	.	.	.	-23.9264	12.9365	0.58319	0.0803:0.0:0.9197:0.0	.	135;113	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	S	135;113	ENSP00000269485:A113S	.	A	+	1	0	TNFRSF11A	58172657	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.295000	0.51794	1.261000	0.44149	-0.143000	0.13931	GCG		PASS	0.731	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			9	9	9	9	---	---	---	---
SERPINB4	6318	broad.mit.edu	37	18	61305235	61305235	+	Silent	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr18:61305235G>A	ENST00000341074.5	-	8	1006	c.891C>T	c.(889-891)gaC>gaT	p.D297D	SERPINB4_ENST00000356424.6_Silent_p.D245D	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	297					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.D297D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TTCTCAACGTGTCCTTGAGGT	0.448																																						uc002ljf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(889-891)GAC>GAT		serine (or cysteine) proteinase inhibitor, clade							184.0	159.0	167.0					18																	61305235		2203	4300	6503	SO:0001819	synonymous_variant	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61305235G>A	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.891C>T	18.37:g.61305235G>A						SERPINB4_uc002lje.2_Silent_p.D276D|SERPINB4_uc002ljg.2_Silent_p.D297D	p.D297D	NM_002974	NP_002965	P48594	SPB4_HUMAN			8	977	-			297					A8K847	Silent	SNP	ENST00000341074.5	37	c.891C>T	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	8.237	0.805885	0.16467	.	.	ENSG00000206073	ENST00000413673	.	.	.	4.51	0.25	0.15535	.	.	.	.	.	T	0.23886	0.0578	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25502	-1.0130	4	.	.	.	.	4.3458	0.11133	0.2495:0.0:0.2479:0.5026	.	.	.	.	I	278	.	.	T	-	2	0	SERPINB4	59456215	0.000000	0.05858	0.000000	0.03702	0.564000	0.35744	-1.278000	0.02809	-0.073000	0.12842	0.609000	0.83330	ACA		PASS	0.448	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		4	47	4	47	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76753214	76753214	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr18:76753214A>T	ENST00000537592.2	+	2	1223	c.1223A>T	c.(1222-1224)gAg>gTg	p.E408V	SALL3_ENST00000575389.2_Missense_Mutation_p.E408V|SALL3_ENST00000536229.3_Missense_Mutation_p.E275V	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	408					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.E408V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCGGTGTTCGAGCCCAAAGCC	0.657																																						uc002lmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(1222-1224)GAG>GTG		sal-like 3							24.0	18.0	20.0					18																	76753214		2201	4297	6498	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753214A>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1223A>T	18.37:g.76753214A>T	ENSP00000441823:p.Glu408Val					SALL3_uc010dra.2_Missense_Mutation_p.E15V	p.E408V	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	1223	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	408					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.1223A>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.059017	0.36373	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10668	2.85	4.54	4.54	0.55810	.	0.000000	0.56097	D	0.000030	T	0.30166	0.0756	M	0.82716	2.605	0.58432	D	0.999999	D;D	0.67145	0.968;0.996	P;P	0.56960	0.81;0.755	T	0.18209	-1.0344	10	0.87932	D	0	-49.2422	14.0552	0.64764	1.0:0.0:0.0:0.0	.	140;408	F5GXY4;Q9BXA9	.;SALL3_HUMAN	V	408;408;140	ENSP00000441823:E408V	ENSP00000299466:E408V	E	+	2	0	SALL3	74854202	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.062000	0.93920	1.907000	0.55213	0.377000	0.23210	GAG		PASS	0.657	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		8	3	8	3	---	---	---	---
CTDP1	9150	broad.mit.edu	37	18	77477959	77477959	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr18:77477959G>T	ENST00000299543.7	+	10	2507	c.2360G>T	c.(2359-2361)cGg>cTg	p.R787L	CTDP1_ENST00000075430.7_Missense_Mutation_p.R787L	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	787					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.R787L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ACGGGCGCCCGGGGGCCCCCA	0.672																																						uc002lnh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2359-2361)CGG>CTG		CTD (carboxy-terminal domain, RNA polymerase II,							31.0	40.0	37.0					18																	77477959		2203	4298	6501	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77477959G>T	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2360G>T	18.37:g.77477959G>T	ENSP00000299543:p.Arg787Leu					CTDP1_uc002lni.1_Missense_Mutation_p.R787L|CTDP1_uc010drd.1_Missense_Mutation_p.R787L	p.R787L	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	10	2507	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	787					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.2360G>T	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	G	7.201	0.593475	0.13875	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.47177	0.85;0.85	4.97	-0.288	0.12855	FCP1-like phosphatase, C-terminal (1);	0.543773	0.20504	N	0.091034	T	0.20292	0.0488	N	0.08118	0	0.09310	N	1	B;B;B	0.22909	0.054;0.077;0.032	B;B;B	0.22753	0.023;0.041;0.04	T	0.09378	-1.0677	10	0.31617	T	0.26	-0.661	3.0281	0.06097	0.5071:0.2883:0.0795:0.1252	.	668;787;787	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	L	787	ENSP00000299543:R787L;ENSP00000075430:R787L	ENSP00000075430:R787L	R	+	2	0	CTDP1	75578947	0.028000	0.19301	0.000000	0.03702	0.050000	0.14768	1.233000	0.32648	-0.304000	0.08843	-0.471000	0.05019	CGG		PASS	0.672	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		24	17	24	17	---	---	---	---
TMPRSS9	360200	broad.mit.edu	37	19	2413858	2413858	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:2413858C>A	ENST00000332578.3	+	9	1313	c.1313C>A	c.(1312-1314)gCc>gAc	p.A438D		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	438					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.A438D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCAAAGCCAGCATGCCT	0.672																																						uc010xgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1312-1314)GCC>GAC		transmembrane protease, serine 9							36.0	38.0	37.0					19																	2413858		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2413858C>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1313C>A	19.37:g.2413858C>A	ENSP00000330264:p.Ala438Asp					TMPRSS9_uc002lvv.1_Missense_Mutation_p.A472D	p.A438D	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1313	+			438			Extracellular (Potential).		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.1313C>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828837	0.32329	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.88201	-2.35	4.04	2.96	0.34315	.	0.903960	0.09203	N	0.834387	D	0.84857	0.5565	L	0.29908	0.895	0.09310	N	1	P;P	0.48230	0.907;0.838	P;B	0.45276	0.475;0.278	T	0.72577	-0.4251	10	0.41790	T	0.15	.	11.2167	0.48830	0.0:0.8121:0.1879:0.0	.	438;472	Q7Z410;E7EMP4	TMPS9_HUMAN;.	D	472;438	ENSP00000330264:A438D	ENSP00000330264:A438D	A	+	2	0	TMPRSS9	2364858	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.183000	0.16919	0.667000	0.31107	0.555000	0.69702	GCC		PASS	0.672	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		18	14	18	14	---	---	---	---
ZNF555	148254	broad.mit.edu	37	19	2853168	2853168	+	Nonsense_Mutation	SNP	G	G	T	rs190919658		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:2853168G>T	ENST00000334241.4	+	4	1243	c.1105G>T	c.(1105-1107)Gaa>Taa	p.E369*	ZNF555_ENST00000591539.1_Nonsense_Mutation_p.E368*|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	369					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.E369*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAACCCTACGAATGCAAACA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		23463	0.0		0.001	False		,,,				2504	0.0					uc002lwo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1105-1107)GAA>TAA		zinc finger protein 555							80.0	70.0	73.0					19																	2853168		2203	4300	6503	SO:0001587	stop_gained	148254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2853168G>T	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.1105G>T	19.37:g.2853168G>T	ENSP00000334853:p.Glu369*					ZNF555_uc002lwn.3_Nonsense_Mutation_p.E368*	p.E369*	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1194	+			369			C2H2-type 8.		A8KA89|K7EQM2|Q8NA46|Q96MP1	Nonsense_Mutation	SNP	ENST00000334241.4	37	c.1105G>T	CCDS12096.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	34	5.302004	0.95601	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	.	.	.	3.23	-0.43	0.12299	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	0.9539	0.01382	0.2237:0.1784:0.4156:0.1823	.	.	.	.	X	369;368	.	ENSP00000334853:E369X	E	+	1	0	ZNF555	2804168	0.000000	0.05858	0.105000	0.21289	0.964000	0.63967	-0.321000	0.08018	-0.068000	0.12953	-0.218000	0.12543	GAA		PASS	0.453	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	NM_152791		9	25	9	25	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8130877	8130877	+	Missense_Mutation	SNP	C	C	G	rs529823750		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:8130877C>G	ENST00000600128.1	-	64	8770	c.8356G>C	c.(8356-8358)Ggt>Cgt	p.G2786R	FBN3_ENST00000270509.2_Missense_Mutation_p.G2786R|FBN3_ENST00000601739.1_Missense_Mutation_p.G2786R			Q75N90	FBN3_HUMAN	fibrillin 3	2786						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G2786R(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCTGGACACCCCAGGGTCCT	0.692																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(8356-8358)GGT>CGT		fibrillin 3 precursor							31.0	33.0	32.0					19																	8130877		2202	4297	6499	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8130877C>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8356G>C	19.37:g.8130877C>G	ENSP00000470498:p.Gly2786Arg					FBN3_uc002mje.2_Missense_Mutation_p.G582R	p.G2786R	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			63	8377	-			2786					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.8356G>C	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207108	0.39003	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.86627	-2.15	4.09	1.9	0.25705	.	0.439500	0.22077	U	0.064958	T	0.77232	0.4100	L	0.43152	1.355	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.10450	0.005;0.003	T	0.57734	-0.7760	10	0.17369	T	0.5	.	4.6193	0.12442	0.1776:0.6298:0.0:0.1926	.	2786;849	Q75N90;Q6ZNB8	FBN3_HUMAN;.	R	2786;849	ENSP00000270509:G2786R	ENSP00000270509:G2786R	G	-	1	0	FBN3	8036877	0.000000	0.05858	0.007000	0.13788	0.180000	0.23129	-0.707000	0.05041	0.460000	0.27045	0.561000	0.74099	GGT		PASS	0.692	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		36	14	36	14	---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11105646	11105646	+	Missense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:11105646G>C	ENST00000429416.3	+	10	1843	c.1562G>C	c.(1561-1563)cGg>cCg	p.R521P	SMARCA4_ENST00000541122.2_Missense_Mutation_p.R521P|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R521P|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R521P|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R521P|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R521P|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R521P|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R521P|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R521P	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	521	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				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.R521P(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)				GAGAACGAGCGGATCGAGAAG	0.567			"""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 - Missense(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.(1561-1563)CGG>CCG		SWI/SNF-related matrix-associated							141.0	111.0	121.0					19																	11105646		2203	4300	6503	SO:0001583	missense	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.chr19:11105646G>C	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.1562G>C	19.37:g.11105646G>C	ENSP00000395654:p.Arg521Pro					SMARCA4_uc010dxp.2_Missense_Mutation_p.R521P|SMARCA4_uc010dxo.2_Missense_Mutation_p.R521P|SMARCA4_uc002mqg.1_Missense_Mutation_p.R521P|SMARCA4_uc010dxq.2_Missense_Mutation_p.R521P|SMARCA4_uc010dxr.2_Missense_Mutation_p.R521P|SMARCA4_uc002mqj.3_Missense_Mutation_p.R521P|SMARCA4_uc010dxs.2_Missense_Mutation_p.R521P|SMARCA4_uc002mqe.2_Missense_Mutation_p.R521P	p.R521P	NM_003072	NP_003063	P51532	SMCA4_HUMAN			9	1846	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	521			HSA.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1562G>C	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763433	0.69763	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.46	4.46	0.54185	Helicase/SANT-associated, DNA binding (1);HAS subgroup (1);HSA (1);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	M	0.91612	3.225	0.58432	D	0.999999	D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.997;0.999;0.999	D;D;D;D;D;D;D	0.79108	0.992;0.992;0.992;0.99;0.954;0.992;0.992	T	0.79431	-0.1806	10	0.87932	D	0	-32.9408	16.3965	0.83607	0.0:0.0:1.0:0.0	.	521;521;521;521;521;521;521	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	P	521	ENSP00000395654:R521P;ENSP00000350720:R521P;ENSP00000343896:R521P;ENSP00000445036:R521P;ENSP00000392837:R521P;ENSP00000397783:R521P;ENSP00000414727:R521P	ENSP00000343896:R521P	R	+	2	0	SMARCA4	10966646	1.000000	0.71417	0.008000	0.14137	0.494000	0.33585	9.565000	0.98154	2.487000	0.83934	0.563000	0.77884	CGG		PASS	0.567	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		6	1	6	1	---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11326504	11326504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:11326504G>A	ENST00000294618.7	-	31	4005	c.3994C>T	c.(3994-3996)Cga>Tga	p.R1332*	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Nonsense_Mutation_p.R671*	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1332					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1332*(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATTTCTTGTCGAGCTCCGATG	0.537																																						uc002mqs.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3994-3996)CGA>TGA		dedicator of cytokinesis 6							118.0	114.0	115.0					19																	11326504		1976	4153	6129	SO:0001587	stop_gained	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11326504G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3994C>T	19.37:g.11326504G>A	ENSP00000294618:p.Arg1332*					DOCK6_uc010xlq.1_Nonsense_Mutation_p.R671*	p.R1332*	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			31	4035	-			1332					A6H8X5|Q7Z7P4|Q9P2F2	Nonsense_Mutation	SNP	ENST00000294618.7	37	c.3994C>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	41	8.761828	0.98943	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	.	.	.	5.29	3.09	0.35607	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0306	13.3368	0.60522	0.0:0.0:0.712:0.288	.	.	.	.	X	1332;671	.	ENSP00000294618:R1332X	R	-	1	2	DOCK6	11187504	0.978000	0.34361	0.039000	0.18376	0.620000	0.37586	1.740000	0.38228	0.754000	0.32968	0.591000	0.81541	CGA		PASS	0.537	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		10	39	10	39	---	---	---	---
CNN1	1264	broad.mit.edu	37	19	11657765	11657765	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:11657765T>A	ENST00000252456.2	+	4	582	c.371T>A	c.(370-372)cTc>cAc	p.L124H	CNN1_ENST00000544952.1_Missense_Mutation_p.L104H|CNN1_ENST00000535659.2_Missense_Mutation_p.L74H|CNN1_ENST00000592923.1_Missense_Mutation_p.L74H	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	124	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.L124H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CAGTCCACCCTCCTGGCTTTG	0.592																																						uc002msc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)CTC>CAC		calponin 1, basic, smooth muscle							127.0	112.0	117.0					19																	11657765		2203	4300	6503	SO:0001583	missense	1264				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	g.chr19:11657765T>A	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.371T>A	19.37:g.11657765T>A	ENSP00000252456:p.Leu124His					CNN1_uc010xmb.1_Missense_Mutation_p.L74H|CNN1_uc010xmc.1_Missense_Mutation_p.L74H	p.L124H	NM_001299	NP_001290	P51911	CNN1_HUMAN			4	535	+			124			CH.		B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP	ENST00000252456.2	37	c.371T>A	CCDS12263.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.326533	0.81690	.	.	ENSG00000130176	ENST00000252456;ENST00000535659;ENST00000544952	T;T;T	0.70282	-0.47;-0.47;-0.47	4.77	4.77	0.60923	Calponin homology domain (5);	0.263485	0.38164	N	0.001781	D	0.88562	0.6470	H	0.96633	3.855	0.80722	D	1	D	0.60575	0.988	D	0.69824	0.966	D	0.91983	0.5596	10	0.87932	D	0	-27.0411	13.2927	0.60280	0.0:0.0:0.0:1.0	.	124	P51911	CNN1_HUMAN	H	124;74;104	ENSP00000252456:L124H;ENSP00000442031:L74H;ENSP00000437470:L104H	ENSP00000252456:L124H	L	+	2	0	CNN1	11518765	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.589000	0.82641	1.798000	0.52647	0.444000	0.29173	CTC		PASS	0.592	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299		42	30	42	30	---	---	---	---
PKN1	5585	broad.mit.edu	37	19	14574959	14574959	+	Silent	SNP	G	G	T	rs2230538	byFrequency	TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:14574959G>T	ENST00000242783.6	+	12	1890	c.1725G>T	c.(1723-1725)tcG>tcT	p.S575S	PKN1_ENST00000342216.4_Silent_p.S581S	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	575					activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.S575S(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGCCCATCGAGCCTGGTGA	0.627																																					NSCLC(185;2539 2965 10733 52867)	uc002myp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1723-1725)TCG>TCT		protein kinase N1 isoform 2							50.0	52.0	51.0					19																	14574959		1974	4149	6123	SO:0001819	synonymous_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14574959G>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1725G>T	19.37:g.14574959G>T						PKN1_uc002myq.2_Silent_p.S581S	p.S575S	NM_002741	NP_002732	Q16512	PKN1_HUMAN			12	1893	+			575					A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	ENST00000242783.6	37	c.1725G>T	CCDS42513.1																																																																																				PASS	0.627	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		19	16	19	16	---	---	---	---
ZNF333	84449	broad.mit.edu	37	19	14805852	14805852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:14805852G>T	ENST00000292530.6	+	3	125	c.34G>T	c.(34-36)Gag>Tag	p.E12*	ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000601134.1_Nonsense_Mutation_p.E12*|ZNF333_ENST00000540689.2_Nonsense_Mutation_p.E12*|ZNF333_ENST00000536363.1_5'UTR	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	12	KRAB 1. {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.E12*(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGTGGCCGTGGAGTTCATCCA	0.567																																					NSCLC(60;75 1281 16985 25154 29885)	uc002mzn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(34-36)GAG>TAG		zinc finger protein 333							211.0	174.0	187.0					19																	14805852		2203	4300	6503	SO:0001587	stop_gained	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14805852G>T		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.34G>T	19.37:g.14805852G>T	ENSP00000292530:p.Glu12*					ZNF333_uc010dzq.2_Nonsense_Mutation_p.E12*|ZNF333_uc002mzk.3_5'UTR|ZNF333_uc002mzl.3_Nonsense_Mutation_p.E12*|ZNF333_uc002mzm.2_Nonsense_Mutation_p.E12*|ZNF333_uc010dzr.1_RNA	p.E12*	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN			3	168	+			12			KRAB 1.		Q6P2E6|Q86WS6|Q8TDL0	Nonsense_Mutation	SNP	ENST00000292530.6	37	c.34G>T	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792026	0.50102	.	.	ENSG00000160961	ENST00000392987;ENST00000540689;ENST00000292530	.	.	.	2.24	-0.0356	0.13891	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	6.6546	0.22981	0.0:0.0:0.5023:0.4977	.	.	.	.	X	12	.	ENSP00000292530:E12X	E	+	1	0	ZNF333	14666852	0.252000	0.23972	0.000000	0.03702	0.081000	0.17604	0.297000	0.19101	0.059000	0.16252	0.655000	0.94253	GAG		PASS	0.567	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		30	26	30	26	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22364051	22364051	+	Silent	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:22364051T>A	ENST00000397121.2	-	3	785	c.468A>T	c.(466-468)ctA>ctT	p.L156L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	156					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.L156L(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATGTTGAGATAGGTGTGAAA	0.318																																						uc002nqs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(466-468)CTA>CTT		zinc finger protein 676							83.0	81.0	82.0					19																	22364051		2010	4199	6209	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364051T>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.468A>T	19.37:g.22364051T>A							p.L156L	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	786	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	156					A8MVX5	Silent	SNP	ENST00000397121.2	37	c.468A>T	CCDS42539.1																																																																																				PASS	0.318	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		36	33	36	33	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36549728	36549728	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:36549728G>T	ENST00000270301.7	+	2	224	c.224G>T	c.(223-225)gGc>gTc	p.G75V	WDR62_ENST00000388999.3_Missense_Mutation_p.G75V|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000401500.2_Missense_Mutation_p.G75V			O43379	WDR62_HUMAN	WD repeat domain 62	75					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.G75V(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AACAGCAGTGGCCTAACCTGT	0.562																																						uc002odc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GGC>GTC		WD repeat domain 62 isoform 2							75.0	65.0	68.0					19																	36549728		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36549728G>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.224G>T	19.37:g.36549728G>T	ENSP00000270301:p.Gly75Val					WDR62_uc002odd.2_Missense_Mutation_p.G75V|WDR62_uc010eer.2_Missense_Mutation_p.G75V|WDR62_uc002odb.2_Missense_Mutation_p.G75V	p.G75V	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	315	+	Esophageal squamous(110;0.162)		75					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.224G>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154172	0.78114	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.58940	0.72;2.73;5.04;0.3	5.58	5.58	0.84498	WD40 repeat-like-containing domain (1);	0.154508	0.64402	D	0.000018	T	0.77136	0.4086	M	0.77313	2.365	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.741	D;D;B	0.97110	1.0;0.989;0.261	T	0.78899	-0.2022	10	0.62326	D	0.03	-36.1389	17.0547	0.86530	0.0:0.0:1.0:0.0	.	75;75;75	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	V	75;75;75;75;69	ENSP00000384792:G75V;ENSP00000373651:G75V;ENSP00000368137:G75V;ENSP00000270301:G75V	ENSP00000270301:G75V	G	+	2	0	WDR62	41241568	0.998000	0.40836	0.999000	0.59377	0.981000	0.71138	2.724000	0.47285	2.645000	0.89757	0.655000	0.94253	GGC		PASS	0.562	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		4	15	4	15	---	---	---	---
DMRTC2	63946	broad.mit.edu	37	19	42351680	42351680	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:42351680C>T	ENST00000269945.3	+	2	235	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F	LYPD4_ENST00000330743.3_5'Flank|DMRTC2_ENST00000602098.1_3'UTR|LYPD4_ENST00000601246.1_5'Flank|DMRTC2_ENST00000596827.1_Missense_Mutation_p.L62F	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	62					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.L62F(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GCGCCTCTGCCTCTTCCAGGC	0.607																																						uc002ors.2																			1	Substitution - Missense(1)		lung(1)		0						c.(184-186)CTC>TTC		DMRT-like family C2							77.0	66.0	70.0					19																	42351680		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42351680C>T	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.184C>T	19.37:g.42351680C>T	ENSP00000269945:p.Leu62Phe					DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc010xwe.1_Missense_Mutation_p.L62F	p.L62F	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN			2	267	+			62			DM.		Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.184C>T	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778669	0.70107	.	.	ENSG00000142025	ENST00000269945	.	.	.	4.29	4.29	0.51040	DM DNA-binding (6);	0.000000	0.41500	D	0.000874	T	0.65709	0.2717	L	0.39898	1.24	0.42263	D	0.992026	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	T	0.63278	-0.6673	9	0.33940	T	0.23	-14.6383	12.9776	0.58546	0.0:1.0:0.0:0.0	.	62;62	B4DX56;Q8IXT2	.;DMRTD_HUMAN	F	62	.	ENSP00000269945:L62F	L	+	1	0	DMRTC2	47043520	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.402000	0.66332	2.355000	0.79922	0.561000	0.74099	CTC		PASS	0.607	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		30	61	30	61	---	---	---	---
PHLDB3	653583	broad.mit.edu	37	19	44008084	44008084	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:44008084T>C	ENST00000292140.5	-	2	547	c.187A>G	c.(187-189)Agc>Ggc	p.S63G	PHLDB3_ENST00000599242.1_Missense_Mutation_p.S63G	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	63							enzyme binding (GO:0019899)	p.S63G(2)		breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				TCAGTGCTGCTGCCTTCTCCC	0.682																																						uc002own.3																			2	Substitution - Missense(2)		lung(2)		0						c.(187-189)AGC>GGC		pleckstrin homology-like domain, family B,							53.0	52.0	52.0					19																	44008084		2203	4300	6503	SO:0001583	missense	653583							g.chr19:44008084T>C		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.187A>G	19.37:g.44008084T>C	ENSP00000292140:p.Ser63Gly					PHLDB3_uc002owo.2_Missense_Mutation_p.S63G	p.S63G	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN			2	446	-		Prostate(69;0.0153)	63					Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	c.187A>G	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679989	0.88542	.	.	ENSG00000176531	ENST00000292140	T	0.55930	0.49	4.76	4.76	0.60689	.	0.924838	0.09295	N	0.821812	T	0.62208	0.2409	L	0.32530	0.975	0.28413	N	0.918112	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.956	T	0.52675	-0.8544	10	0.42905	T	0.14	.	11.0216	0.47722	0.0:0.0:0.0:1.0	.	63;63	Q6NSJ2-2;Q6NSJ2	.;PHLB3_HUMAN	G	63	ENSP00000292140:S63G	ENSP00000292140:S63G	S	-	1	0	PHLDB3	48699924	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	2.438000	0.44837	1.933000	0.56026	0.248000	0.18094	AGC		PASS	0.682	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			17	29	17	29	---	---	---	---
CKM	1158	broad.mit.edu	37	19	45822920	45822920	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:45822920C>A	ENST00000221476.3	-	2	226	c.52G>T	c.(52-54)Gag>Tag	p.E18*		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	18	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.E18*(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGGTACTCCTCCTCAGGCTTG	0.527																																						uc002pbd.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(52-54)GAG>TAG		muscle creatine kinase	Creatine(DB00148)						292.0	245.0	261.0					19																	45822920		2203	4300	6503	SO:0001587	stop_gained	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45822920C>A	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.52G>T	19.37:g.45822920C>A	ENSP00000221476:p.Glu18*						p.E18*	NM_001824	NP_001815	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	2	126	-		Ovarian(192;0.0336)|all_neural(266;0.112)	18			Phosphagen kinase N-terminal.		Q96QL9	Nonsense_Mutation	SNP	ENST00000221476.3	37	c.52G>T	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.965558	0.97151	.	.	ENSG00000104879	ENST00000221476	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-48.6599	15.469	0.75426	0.0:1.0:0.0:0.0	.	.	.	.	X	18	.	ENSP00000221476:E18X	E	-	1	0	CKM	50514760	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.421000	0.80204	2.326000	0.78906	0.655000	0.94253	GAG		PASS	0.527	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			45	77	45	77	---	---	---	---
MED25	81857	broad.mit.edu	37	19	50333387	50333387	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:50333387C>T	ENST00000312865.6	+	7	784	c.731C>T	c.(730-732)cCa>cTa	p.P244L	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	244	Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)	p.P244L(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TCAAAGCAGCCAGTCCCCCTG	0.647																																					GBM(51;894 1657 37868)	uc002ppw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(730-732)CCA>CTA		mediator complex subunit 25							38.0	48.0	45.0					19																	50333387		2171	4265	6436	SO:0001583	missense	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50333387C>T	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.731C>T	19.37:g.50333387C>T	ENSP00000326767:p.Pro244Leu					MED25_uc010ybe.1_Intron|MED25_uc002ppx.1_Missense_Mutation_p.P25L	p.P244L	NM_030973	NP_112235	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	7	784	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	244			Pro-rich.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.731C>T	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169627	0.38315	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000542221	T	0.77358	-1.09	4.98	1.46	0.22682	Mediator complex, subunit Med25, synapsin 1 (1);	0.123774	0.56097	D	0.000038	T	0.64305	0.2586	N	0.24115	0.695	0.45528	D	0.998483	B;B	0.16396	0.017;0.005	B;B	0.17098	0.017;0.017	T	0.58261	-0.7667	10	0.49607	T	0.09	.	13.0998	0.59214	0.419:0.581:0.0:0.0	.	244;244	B5ME50;Q71SY5	.;MED25_HUMAN	L	244	ENSP00000326767:P244L	ENSP00000326767:P244L	P	+	2	0	MED25	55025199	0.258000	0.24033	0.271000	0.24616	0.870000	0.49936	1.043000	0.30316	0.319000	0.23209	-0.181000	0.13052	CCA		PASS	0.647	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		47	61	47	61	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51175289	51175289	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:51175289C>T	ENST00000293441.1	-	21	2678	c.2660G>A	c.(2659-2661)cGg>cAg	p.R887Q	SHANK1_ENST00000359082.3_Missense_Mutation_p.R878Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.R895Q|SHANK1_ENST00000391813.1_Missense_Mutation_p.R274Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	887					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.R887Q(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGATTTTTGCCGGAGCATCAA	0.562																																						uc002psx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(2659-2661)CGG>CAG		SH3 and multiple ankyrin repeat domains 1							107.0	93.0	98.0					19																	51175289		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51175289C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2660G>A	19.37:g.51175289C>T	ENSP00000293441:p.Arg887Gln					SHANK1_uc002psw.1_Missense_Mutation_p.R271Q	p.R887Q	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	21	2679	-		all_neural(266;0.057)	887					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.2660G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686255	0.47991	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.55413	0.69;0.94;0.66;0.52	3.87	3.87	0.44632	.	1.547250	0.04997	U	0.468460	T	0.72748	0.3499	M	0.75615	2.305	0.40123	D	0.976625	D;D	0.67145	0.994;0.996	P;P	0.59595	0.637;0.86	T	0.65471	-0.6160	10	0.87932	D	0	-13.5601	15.1098	0.72346	0.0:1.0:0.0:0.0	.	887;274	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	Q	887;274;878;895	ENSP00000293441:R887Q;ENSP00000375689:R274Q;ENSP00000351984:R878Q;ENSP00000375690:R895Q	ENSP00000293441:R887Q	R	-	2	0	SHANK1	55867101	0.998000	0.40836	1.000000	0.80357	0.950000	0.60333	4.322000	0.59215	2.161000	0.67846	0.491000	0.48974	CGG		PASS	0.562	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		5	16	5	16	---	---	---	---
KLK15	55554	broad.mit.edu	37	19	51329080	51329080	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:51329080C>T	ENST00000598239.1	-	5	773	c.743G>A	c.(742-744)tGg>tAg	p.W248*	KLK15_ENST00000416184.1_Nonsense_Mutation_p.W163*|KLK15_ENST00000326856.4_Nonsense_Mutation_p.W247*|KLK1_ENST00000301420.2_5'Flank|KLK15_ENST00000596931.1_3'UTR|KLK1_ENST00000448701.2_5'Flank|KLK15_ENST00000301421.2_3'UTR	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	248	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.W248*(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TTCCCTGATCCACTCCAAGTA	0.572																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.2																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|breast(1)	2						c.(742-744)TGG>TAG		kallikrein-related peptidase 15 isoform 4							132.0	107.0	115.0					19																	51329080		2203	4300	6503	SO:0001587	stop_gained	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51329080C>T	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.743G>A	19.37:g.51329080C>T	ENSP00000469315:p.Trp248*					KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Nonsense_Mutation_p.W163*|KLK15_uc002ptn.2_3'UTR|KLK15_uc002pto.2_Nonsense_Mutation_p.W247*|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_3'UTR|KLK15_uc010eod.2_RNA	p.W248*	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	5	774	-		all_neural(266;0.057)	248			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Nonsense_Mutation	SNP	ENST00000598239.1	37	c.743G>A	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	16.83	3.232224	0.58777	.	.	ENSG00000174562	ENST00000326856;ENST00000416184	.	.	.	4.06	4.06	0.47325	.	0.000000	0.38326	N	0.001735	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0834	0.64939	0.0:1.0:0.0:0.0	.	.	.	.	X	248;163	.	ENSP00000314783:W248X	W	-	2	0	KLK15	56020892	1.000000	0.71417	0.936000	0.37596	0.495000	0.33615	4.071000	0.57556	2.270000	0.75569	0.174000	0.16983	TGG		PASS	0.572	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		15	25	15	25	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55144657	55144657	+	Silent	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:55144657C>A	ENST00000396331.1	+	8	1506	c.1149C>A	c.(1147-1149)ccC>ccA	p.P383P	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Silent_p.P383P|LILRB1_ENST00000324602.7_Silent_p.P383P|LILRB1_ENST00000427581.2_Silent_p.P419P|LILRB1_ENST00000396317.1_Silent_p.P383P|LILRB1_ENST00000418536.2_Silent_p.P383P|LILRB1_ENST00000396315.1_Silent_p.P383P|LILRB1_ENST00000448689.1_Silent_p.P383P|LILRB1_ENST00000396332.4_Silent_p.P383P|LILRB1_ENST00000396327.3_Silent_p.P383P|LILRB1_ENST00000434867.2_Silent_p.P383P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	383	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.P383P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTGAATTCCCCATGGGTCCTG	0.562										HNSCC(37;0.09)																												uc002qgj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1147-1149)CCC>CCA		leukocyte immunoglobulin-like receptor,							115.0	126.0	122.0					19																	55144657		2203	4300	6503	SO:0001819	synonymous_variant	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55144657C>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1149C>A	19.37:g.55144657C>A		HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.P383P|LILRB1_uc002qgk.2_Silent_p.P383P|LILRB1_uc002qgm.2_Silent_p.P383P|LILRB1_uc010erq.2_Silent_p.P383P|LILRB1_uc010err.2_RNA	p.P383P	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	8	1489	+			383			Ig-like C2-type 4.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	c.1149C>A	CCDS42617.1																																																																																				PASS	0.562	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			35	70	35	70	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55805501	55805501	+	Splice_Site	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:55805501G>C	ENST00000309383.1	+	5	852	c.575G>C	c.(574-576)gGg>gCg	p.G192A	BRSK1_ENST00000585418.1_Splice_Site_p.G192A|BRSK1_ENST00000590333.1_Splice_Site_p.G208A	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.G192A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ACCAGCTGCGGGTGAGTGGGG	0.612																																						uc002qkg.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(574-576)GGG>GCG		BR serine/threonine kinase 1							113.0	124.0	121.0					19																	55805501		2203	4300	6503	SO:0001630	splice_region_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55805501G>C	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.575+1G>C	19.37:g.55805501G>C						BRSK1_uc002qkf.2_Missense_Mutation_p.G208A	p.G192A	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	5	852	+		Renal(1328;0.245)	192			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.575G>C	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	28.6	4.935565	0.92458	.	.	ENSG00000160469	ENST00000309383	T	0.39592	1.07	4.79	4.79	0.61399	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	T	0.71264	0.3319	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.78687	-0.2107	10	0.72032	D	0.01	.	16.9671	0.86288	0.0:0.0:1.0:0.0	.	192;208	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	A	192	ENSP00000310649:G192A	ENSP00000310649:G192A	G	+	2	0	BRSK1	60497313	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.077000	0.94016	2.371000	0.80710	0.561000	0.74099	GGG		PASS	0.612	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	Missense_Mutation	56	108	56	108	---	---	---	---
ZSCAN22	342945	broad.mit.edu	37	19	58849997	58849997	+	Missense_Mutation	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:58849997A>G	ENST00000329665.4	+	3	928	c.781A>G	c.(781-783)Acc>Gcc	p.T261A		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	261					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.T261A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GCCTCCATACACCTACTCAGG	0.532																																						uc002qsc.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(781-783)ACC>GCC		zinc finger and SCAN domain containing 22							193.0	200.0	198.0					19																	58849997		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58849997A>G	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.781A>G	19.37:g.58849997A>G	ENSP00000332433:p.Thr261Ala					ZSCAN22_uc010yhz.1_Silent_p.T255T	p.T261A	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	928	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	261					Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.781A>G	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	A	7.497	0.651772	0.14516	.	.	ENSG00000182318	ENST00000329665	T	0.08458	3.09	3.16	-3.47	0.04753	.	.	.	.	.	T	0.04634	0.0126	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40887	-0.9539	9	0.32370	T	0.25	.	4.5847	0.12277	0.3132:0.3478:0.3391:0.0	.	261	P10073	ZSC22_HUMAN	A	261	ENSP00000332433:T261A	ENSP00000332433:T261A	T	+	1	0	ZSCAN22	63541809	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.376000	0.20535	-0.970000	0.03569	0.260000	0.18958	ACC		PASS	0.532	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		84	131	84	131	---	---	---	---
RPS5	6193	broad.mit.edu	37	19	58906108	58906108	+	Silent	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr19:58906108C>G	ENST00000596046.1	+	5	1455	c.606C>G	c.(604-606)tcC>tcG	p.S202S	RPS5_ENST00000598098.1_Silent_p.S132S|RPS5_ENST00000598495.1_Silent_p.S223S|RPS5_ENST00000196551.3_Silent_p.S202S|RPS5_ENST00000601521.1_Silent_p.S202S|AC012313.1_ENST00000601382.1_5'Flank			P46782	RS5_HUMAN	ribosomal protein S5	202					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.S202S(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		TGGCCAAGTCCAACCGCTGAT	0.572																																						uc002qsn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(604-606)TCC>TCG		ribosomal protein S5							82.0	85.0	84.0					19																	58906108		2203	4300	6503	SO:0001819	synonymous_variant	6193				endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome	g.chr19:58906108C>G	U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.606C>G	19.37:g.58906108C>G						RPS5_uc002qso.2_Silent_p.S202S	p.S202S	NM_001009	NP_001000	P46782	RS5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)	6	678	+		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)	202					B2R4T2|Q96BN0	Silent	SNP	ENST00000596046.1	37	c.606C>G	CCDS12978.1																																																																																				PASS	0.572	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467016.1	NM_001009		24	62	24	62	---	---	---	---
PRNT	149830	broad.mit.edu	37	20	4713279	4713279	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr20:4713279A>T	ENST00000326539.2	-	2	981	c.44T>A	c.(43-45)cTt>cAt	p.L15H	PRNT_ENST00000418528.1_Missense_Mutation_p.L15H|PRNT_ENST00000423718.2_Missense_Mutation_p.L15H			Q86SH4	PRNT_HUMAN	prion protein (testis specific)	15						extracellular region (GO:0005576)		p.L15H(2)		endometrium(2)|lung(5)	7						aagatgggaaagatgtagaat	0.483																																						uc002wlb.2																			2	Substitution - Missense(2)		lung(2)		0								Homo sapiens mRNA for putative M8 protein, isoform 2.							141.0	128.0	132.0					20																	4713279		2203	4300	6503	SO:0001583	missense	149830							g.chr20:4713279A>T	AL137296, AJ427539		20p13	2013-04-02			ENSG00000180259	ENSG00000180259			18046	other	unknown	"""M8 protein"""					12514748	Standard	NR_024267		Approved	M8	uc010zqq.2	Q86SH4	OTTHUMG00000031785	ENST00000326539.2:c.44T>A	20.37:g.4713279A>T	ENSP00000321242:p.Leu15His					PRNT_uc010zqp.1_RNA|PRNT_uc010zqq.1_RNA		NR_024268						2		-								B2RPD9|B7ZBI9	RNA	SNP	ENST00000326539.2	37	c.745T>A		.	.	.	.	.	.	.	.	.	.	A	5.680	0.310125	0.10733	.	.	ENSG00000180259	ENST00000418528;ENST00000326539;ENST00000423718	T;T;T	0.58358	0.34;0.34;0.34	1.7	0.579	0.17397	.	.	.	.	.	T	0.45975	0.1369	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45702	-0.9243	6	0.87932	D	0	.	3.4821	0.07606	0.7794:0.0:0.2206:0.0	.	.	.	.	H	15	ENSP00000409280:L15H;ENSP00000321242:L15H;ENSP00000404306:L15H	ENSP00000321242:L15H	L	-	2	0	PRNT	4661279	0.031000	0.19500	0.003000	0.11579	0.012000	0.07955	2.060000	0.41394	0.138000	0.18790	-0.476000	0.04901	CTT		PASS	0.483	PRNT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000253006.2	NM_177549		7	22	7	22	---	---	---	---
GPCPD1	56261	broad.mit.edu	37	20	5554612	5554612	+	Silent	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr20:5554612C>T	ENST00000379019.4	-	11	1217	c.1005G>A	c.(1003-1005)ctG>ctA	p.L335L	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	335	GP-PDE.				glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)	p.L335L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GAACTTTAGCCAGCCTGAAAA	0.318																																						uc002wme.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1003-1005)CTG>CTA		hypothetical protein LOC56261							77.0	79.0	78.0					20																	5554612		2203	4297	6500	SO:0001819	synonymous_variant	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5554612C>T		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1005G>A	20.37:g.5554612C>T						GPCPD1_uc002wmd.3_Silent_p.L154L	p.L335L	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN			11	1218	-			335			GDPD.		D3DW06|Q9BQL8|Q9NUX0	Silent	SNP	ENST00000379019.4	37	c.1005G>A	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	C	9.293	1.051044	0.19827	.	.	ENSG00000125772	ENST00000418646	.	.	.	5.61	2.19	0.27852	.	.	.	.	.	T	0.53916	0.1826	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41270	-0.9518	4	.	.	.	-5.1282	6.3048	0.21133	0.3605:0.4331:0.0:0.2064	.	.	.	.	S	34	.	.	G	-	1	0	GPCPD1	5502612	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.259000	0.32956	0.159000	0.19401	0.650000	0.86243	GGC		PASS	0.318	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		48	40	48	40	---	---	---	---
SSTR4	6754	broad.mit.edu	37	20	23016271	23016271	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr20:23016271C>G	ENST00000255008.3	+	1	215	c.151C>G	c.(151-153)Cag>Gag	p.Q51E	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	51					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.Q51E(1)		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)					GGTCGCTATCCAGTGCATCTA	0.687																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(151-153)CAG>GAG		somatostatin receptor 4							66.0	77.0	73.0					20																	23016271		2198	4296	6494	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016271C>G		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.151C>G	20.37:g.23016271C>G	ENSP00000255008:p.Gln51Glu						p.Q51E	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	215	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		51			Helical; Name=1; (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.151C>G	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.338105	0.24253	.	.	ENSG00000132671	ENST00000255008	T	0.19532	2.14	3.57	3.57	0.40892	.	0.096924	0.42682	U	0.000667	T	0.15609	0.0376	N	0.19112	0.55	0.38213	D	0.940542	B	0.26744	0.158	B	0.28305	0.088	T	0.16012	-1.0417	10	0.62326	D	0.03	.	14.3095	0.66407	0.0:1.0:0.0:0.0	.	51	P31391	SSR4_HUMAN	E	51	ENSP00000255008:Q51E	ENSP00000255008:Q51E	Q	+	1	0	SSTR4	22964271	0.637000	0.27216	0.856000	0.33681	0.296000	0.27459	1.504000	0.35726	1.806000	0.52798	0.555000	0.69702	CAG		PASS	0.687	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			78	48	78	48	---	---	---	---
CD93	22918	broad.mit.edu	37	20	23065047	23065047	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr20:23065047G>T	ENST00000246006.4	-	1	1930	c.1783C>A	c.(1783-1785)Ctc>Atc	p.L595I		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	595					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.L595I(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCAGCAGGAGTAGGATGGCC	0.572																																						uc002wsv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(1783-1785)CTC>ATC		CD93 antigen precursor							150.0	146.0	147.0					20																	23065047		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065047G>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1783C>A	20.37:g.23065047G>T	ENSP00000246006:p.Leu595Ile						p.L595I	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			1	1931	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		595			Helical; (Potential).		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1783C>A	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506346	0.64410	.	.	ENSG00000125810	ENST00000246006	D	0.83992	-1.79	5.84	1.72	0.24424	.	0.000000	0.50627	D	0.000105	T	0.80166	0.4573	M	0.68952	2.095	0.09310	N	1	P	0.48294	0.908	P	0.44422	0.449	T	0.72060	-0.4404	10	0.66056	D	0.02	-14.6869	7.6326	0.28249	0.198:0.1184:0.6836:0.0	.	595	Q9NPY3	C1QR1_HUMAN	I	595	ENSP00000246006:L595I	ENSP00000246006:L595I	L	-	1	0	CD93	23013047	0.367000	0.25023	0.000000	0.03702	0.835000	0.47333	1.466000	0.35310	0.108000	0.17862	0.650000	0.86243	CTC		PASS	0.572	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		46	237	46	237	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24524213	24524213	+	Splice_Site	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr20:24524213G>A	ENST00000376862.3	+	2	1113	c.480G>A	c.(478-480)gaG>gaA	p.E160E		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	160					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.E160E(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						AGGAGCTGGAGGTCACAGGAT	0.512																																						uc002wtw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(478-480)GAG>GAA		transmembrane protein 90B							69.0	75.0	73.0					20																	24524213		2201	4296	6497	SO:0001630	splice_region_variant	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524213G>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.480+1G>A	20.37:g.24524213G>A							p.E160E	NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN			2	1113	+			160			Cytoplasmic (Potential).		Q6IA30|Q9H514	Silent	SNP	ENST00000376862.3	37	c.480G>A	CCDS13164.1																																																																																				PASS	0.512	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893	Silent	20	118	20	118	---	---	---	---
PYGB	5834	broad.mit.edu	37	20	25259697	25259697	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr20:25259697C>A	ENST00000216962.4	+	9	1114	c.1004C>A	c.(1003-1005)gCc>gAc	p.A335D		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	335					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)	p.A335D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CTTCAGGTGGCCATCCAGCTG	0.607																																						uc002wup.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1003-1005)GCC>GAC		brain glycogen phosphorylase	Pyridoxal Phosphate(DB00114)						101.0	69.0	80.0					20																	25259697		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25259697C>A		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1004C>A	20.37:g.25259697C>A	ENSP00000216962:p.Ala335Asp						p.A335D	NM_002862	NP_002853	P11216	PYGB_HUMAN			9	1113	+			335					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.1004C>A	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049247	0.75846	.	.	ENSG00000100994	ENST00000216962	D	0.94000	-3.33	3.4	3.4	0.38934	.	0.054750	0.64402	D	0.000001	D	0.97914	0.9314	H	0.97962	4.115	0.80722	D	1	D	0.63880	0.993	D	0.85130	0.997	D	0.99236	1.0883	10	0.87932	D	0	-23.6697	14.957	0.71124	0.0:1.0:0.0:0.0	.	335	P11216	PYGB_HUMAN	D	335	ENSP00000216962:A335D	ENSP00000216962:A335D	A	+	2	0	PYGB	25207697	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	7.452000	0.80683	1.902000	0.55061	0.455000	0.32223	GCC		PASS	0.607	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862		16	13	16	13	---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36850858	36850858	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr20:36850858C>T	ENST00000279024.4	-	10	2681	c.2410G>A	c.(2410-2412)Gat>Aat	p.D804N		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	804								p.D804N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TACCTGACATCAGGGCTGAAG	0.637											OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(2410-2412)GAT>AAT		hypothetical protein LOC85449							76.0	74.0	75.0					20																	36850858		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36850858C>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2410G>A	20.37:g.36850858C>T	ENSP00000279024:p.Asp804Asn		OREG0025921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	866	KIAA1755_uc002xhx.1_Missense_Mutation_p.D82N	p.D804N	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			10	2682	-		Myeloproliferative disorder(115;0.00874)	804					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.2410G>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988480	0.74589	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.29142	2.99;1.58	5.09	5.09	0.68999	.	0.144148	0.31697	N	0.007205	T	0.55465	0.1922	M	0.69523	2.12	0.51767	D	0.99993	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.943	T	0.57499	-0.7801	10	0.66056	D	0.02	.	16.0247	0.80536	0.0:1.0:0.0:0.0	.	804;312	Q5JYT7;E9PFS1	K1755_HUMAN;.	N	804;312;103	ENSP00000279024:D804N;ENSP00000393503:D103N	ENSP00000279024:D804N	D	-	1	0	KIAA1755	36284272	0.885000	0.30320	0.460000	0.27093	0.956000	0.61745	2.261000	0.43276	2.651000	0.90000	0.561000	0.74099	GAT		PASS	0.637	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		22	45	22	45	---	---	---	---
STK4	6789	broad.mit.edu	37	20	43607148	43607148	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr20:43607148G>T	ENST00000372806.3	+	3	276	c.181G>T	c.(181-183)Gtt>Ttt	p.V61F	STK4_ENST00000396731.4_Missense_Mutation_p.V61F|STK4_ENST00000372801.1_Missense_Mutation_p.V61F|STK4_ENST00000499879.2_Missense_Mutation_p.V61F	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.V61F(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TATTAAGCAAGTTCCTGTGGA	0.418																																					GBM(187;1039 2137 11798 21916 33213)	uc002xnb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(181-183)GTT>TTT		serine/threonine kinase 4							95.0	94.0	94.0					20																	43607148		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43607148G>T		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.181G>T	20.37:g.43607148G>T	ENSP00000361892:p.Val61Phe					STK4_uc010ggx.2_Missense_Mutation_p.V61F|STK4_uc010ggy.2_Missense_Mutation_p.V61F|STK4_uc010ggw.1_Missense_Mutation_p.V61F	p.V61F	NM_006282	NP_006273	Q13043	STK4_HUMAN			3	271	+		Myeloproliferative disorder(115;0.0122)	61			Protein kinase.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.181G>T	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067044	0.93898	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058377	0.64402	D	0.000002	T	0.72914	0.3520	L	0.33293	1	0.80722	D	1	D;P;D;D	0.89917	1.0;0.953;0.962;0.962	D;P;P;P	0.79784	0.993;0.562;0.6;0.822	T	0.75127	-0.3427	10	0.87932	D	0	.	12.9535	0.58413	0.0738:0.0:0.9262:0.0	.	61;61;61;61	F5H5B4;Q13043-2;A0PJ51;Q13043	.;.;.;STK4_HUMAN	F	61	ENSP00000361892:V61F;ENSP00000379957:V61F;ENSP00000361887:V61F;ENSP00000443514:V61F	ENSP00000361887:V61F	V	+	1	0	STK4	43040562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.057000	0.89457	2.644000	0.89710	0.655000	0.94253	GTT		PASS	0.418	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		27	35	27	35	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44663630	44663630	+	Silent	SNP	C	C	G	rs143969641	byFrequency	TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr20:44663630C>G	ENST00000454036.2	+	2	214	c.165C>G	c.(163-165)acC>acG	p.T55T	SLC12A5_ENST00000243964.3_Silent_p.T32T|SLC12A5_ENST00000608944.1_5'UTR|SLC12A5_ENST00000372315.1_Silent_p.T32T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	55					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.T32T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCAACAGCACCGACACAGAGA	0.527																																						uc010zxl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(163-165)ACC>ACG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						271.0	190.0	218.0					20																	44663630		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44663630C>G	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.165C>G	20.37:g.44663630C>G						SLC12A5_uc002xra.2_Silent_p.T32T|SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Silent_p.T32T	p.T55T	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			2	241	+		Myeloproliferative disorder(115;0.0122)	55			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.165C>G	CCDS46610.1																																																																																				PASS	0.527	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			13	48	13	48	---	---	---	---
NFATC2	4773	broad.mit.edu	37	20	50049180	50049180	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr20:50049180C>T	ENST00000396009.3	-	9	2365	c.2146G>A	c.(2146-2148)Gag>Aag	p.E716K	NFATC2_ENST00000609943.1_Missense_Mutation_p.E696K|NFATC2_ENST00000414705.1_Missense_Mutation_p.E696K|NFATC2_ENST00000609507.1_Missense_Mutation_p.E497K|NFATC2_ENST00000371564.3_Missense_Mutation_p.E716K|NFATC2_ENST00000610033.1_Missense_Mutation_p.E497K	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	716					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E716K(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GAGGGGGACTCGGCCACCATC	0.672																																						uc002xwd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2146-2148)GAG>AAG		nuclear factor of activated T-cells,							21.0	25.0	24.0					20																	50049180		2199	4291	6490	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50049180C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2146G>A	20.37:g.50049180C>T	ENSP00000379330:p.Glu716Lys					NFATC2_uc002xwc.2_Missense_Mutation_p.E716K|NFATC2_uc010zyv.1_Missense_Mutation_p.E497K|NFATC2_uc010zyw.1_Missense_Mutation_p.E497K|NFATC2_uc010zyx.1_Missense_Mutation_p.E696K|NFATC2_uc010zyy.1_Missense_Mutation_p.E497K|NFATC2_uc010zyz.1_Missense_Mutation_p.E497K|NFATC2_uc002xwe.2_Missense_Mutation_p.E696K	p.E716K	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			9	2366	-	Hepatocellular(150;0.248)		716					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.2146G>A	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515421	0.85389	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.14391	2.51;2.51;2.52	5.16	5.16	0.70880	.	0.210207	0.40064	N	0.001184	T	0.21347	0.0514	L	0.43152	1.355	0.41440	D	0.98791	D;D;D;D	0.67145	0.992;0.996;0.994;0.994	B;P;P;P	0.50537	0.288;0.541;0.643;0.643	T	0.00804	-1.1559	10	0.36615	T	0.2	-25.1707	18.6543	0.91445	0.0:1.0:0.0:0.0	.	696;696;716;716	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	K	716;716;696	ENSP00000360619:E716K;ENSP00000379330:E716K;ENSP00000396471:E696K	ENSP00000360619:E716K	E	-	1	0	NFATC2	49482587	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.533000	0.60615	2.416000	0.81992	0.555000	0.69702	GAG		PASS	0.672	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		19	21	19	21	---	---	---	---
NTSR1	4923	broad.mit.edu	37	20	61340679	61340679	+	Silent	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr20:61340679C>G	ENST00000370501.3	+	1	491	c.120C>G	c.(118-120)ggC>ggG	p.G40G		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	40					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.G40G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ACGCTTCGGGCAACGCGTCGG	0.731																																					GBM(37;400 780 6403 19663 35669)	uc002ydf.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(118-120)GGC>GGG		neurotensin receptor 1							42.0	32.0	36.0					20																	61340679		2197	4295	6492	SO:0001819	synonymous_variant	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61340679C>G		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.120C>G	20.37:g.61340679C>G							p.G40G	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		1	491	+	Breast(26;3.65e-08)		40			Extracellular (Potential).		Q9H4H1|Q9H4T5	Silent	SNP	ENST00000370501.3	37	c.120C>G	CCDS13502.1																																																																																				PASS	0.731	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			6	8	6	8	---	---	---	---
KRTAP13-2	337959	broad.mit.edu	37	21	31744283	31744283	+	Silent	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr21:31744283G>T	ENST00000399889.2	-	1	274	c.249C>A	c.(247-249)ccC>ccA	p.P83P		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	83	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.P83P(2)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGGAGGTTCTGGGGCGGTAGC	0.607																																						uc002ynz.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(247-249)CCC>CCA		keratin associated protein 13-2							60.0	60.0	60.0					21																	31744283		2203	4300	6503	SO:0001819	synonymous_variant	337959					intermediate filament		g.chr21:31744283G>T	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.249C>A	21.37:g.31744283G>T							p.P83P	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			1	275	-			83			4.|5 X 10 AA approximate repeats.			Silent	SNP	ENST00000399889.2	37	c.249C>A	CCDS13589.1																																																																																				PASS	0.607	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			24	6	24	6	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32513449	32513449	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr21:32513449C>A	ENST00000286827.3	-	23	4232	c.3761G>T	c.(3760-3762)gGt>gTt	p.G1254V	TIAM1_ENST00000541036.1_Missense_Mutation_p.G1194V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1254					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1254V(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTTTTTCTCACCAGTCTGTTC	0.408																																						uc002yow.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3760-3762)GGT>GTT		T-cell lymphoma invasion and metastasis 1							74.0	69.0	71.0					21																	32513449		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32513449C>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3761G>T	21.37:g.32513449C>A	ENSP00000286827:p.Gly1254Val					TIAM1_uc011adk.1_Missense_Mutation_p.G1254V|TIAM1_uc011adl.1_Missense_Mutation_p.G1194V	p.G1254V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			23	4233	-			1254					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3761G>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253627	0.59212	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.48201	0.82;0.83	5.21	5.21	0.72293	Pleckstrin homology-type (1);	0.058743	0.64402	D	0.000002	T	0.52885	0.1762	M	0.65498	2.005	0.80722	D	1	D;D;D	0.57899	0.981;0.968;0.968	B;B;B	0.44278	0.445;0.26;0.26	T	0.58200	-0.7678	10	0.46703	T	0.11	.	19.1529	0.93496	0.0:1.0:0.0:0.0	.	1194;1194;1254	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	V	1254;1194	ENSP00000286827:G1254V;ENSP00000441570:G1194V	ENSP00000286827:G1254V	G	-	2	0	TIAM1	31435320	0.984000	0.35163	0.966000	0.40874	0.915000	0.54546	3.889000	0.56212	2.590000	0.87494	0.563000	0.77884	GGT		PASS	0.408	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		18	12	18	12	---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45494322	45494322	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr21:45494322G>T	ENST00000291574.4	+	8	1331	c.1156G>T	c.(1156-1158)Gtg>Ttg	p.V386L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	386					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.V386L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TGCCCACACTGTGGGGCTATG	0.572																																						uc002zea.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1156-1158)GTG>TTG		trafficking protein particle complex 10							117.0	97.0	104.0					21																	45494322		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45494322G>T	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1156G>T	21.37:g.45494322G>T	ENSP00000291574:p.Val386Leu					TRAPPC10_uc010gpo.2_Missense_Mutation_p.V97L	p.V386L	NM_003274	NP_003265	P48553	TPC10_HUMAN			8	1325	+			386					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.1156G>T	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011288	0.93346	.	.	ENSG00000160218	ENST00000291574	T	0.23950	1.88	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	L	0.44542	1.39	0.80722	D	1	D	0.55605	0.972	P	0.51615	0.675	T	0.09015	-1.0694	10	0.56958	D	0.05	.	18.7883	0.91964	0.0:0.0:1.0:0.0	.	386	P48553	TPC10_HUMAN	L	386	ENSP00000291574:V386L	ENSP00000291574:V386L	V	+	1	0	TRAPPC10	44318750	1.000000	0.71417	0.975000	0.42487	0.978000	0.69477	9.467000	0.97671	2.506000	0.84524	0.650000	0.86243	GTG		PASS	0.572	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		13	19	13	19	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17073187	17073187	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr22:17073187G>T	ENST00000359963.3	-	1	513	c.254C>A	c.(253-255)cCa>cAa	p.P85Q		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	85					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.P85Q(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	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)				CCATGCTGCTGGGTGCTCCAG	0.627																																						uc002zlp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(253-255)CCA>CAA		T-complex protein 1							70.0	57.0	62.0					22																	17073187		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073187G>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.254C>A	22.37:g.17073187G>T	ENSP00000353048:p.Pro85Gln						p.P85Q	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	514	-	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)	85					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.254C>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	12.94	2.089494	0.36855	.	.	ENSG00000198445	ENST00000359963	T	0.33865	1.39	2.0	2.0	0.26442	.	0.000000	0.34531	U	0.003890	T	0.53786	0.1818	M	0.77103	2.36	0.36721	D	0.8812	D	0.89917	1.0	D	0.97110	1.0	T	0.58978	-0.7540	10	0.38643	T	0.18	-16.0654	7.4831	0.27417	0.0:0.0:1.0:0.0	.	85	Q96SF2	TCPQM_HUMAN	Q	85	ENSP00000353048:P85Q	ENSP00000353048:P85Q	P	-	2	0	CCT8L2	15453187	0.991000	0.36638	0.692000	0.30179	0.501000	0.33797	3.347000	0.52200	1.126000	0.42016	0.393000	0.25936	CCA		PASS	0.627	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			12	30	12	30	---	---	---	---
SCARF2	91179	broad.mit.edu	37	22	20780198	20780198	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr22:20780198C>T	ENST00000266214.5	-	11	2184	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	SCARF2_ENST00000405555.3_Missense_Mutation_p.E689K	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	694	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.E694K(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGCGCGGCCTCGGAGCCTGGC	0.721																																						uc002zsj.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2080-2082)GAG>AAG		scavenger receptor class F, member 2 isoform 1							17.0	15.0	16.0					22																	20780198		2183	4262	6445	SO:0001583	missense	91179				cell adhesion	integral to membrane	protein binding|receptor activity	g.chr22:20780198C>T	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2080G>A	22.37:g.20780198C>T	ENSP00000266214:p.Glu694Lys					SCARF2_uc002zsk.1_Missense_Mutation_p.E689K	p.E694K	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		11	2185	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	689			Pro-rich.|Cytoplasmic (Potential).		E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	37	c.2080G>A	CCDS13779.1	.	.	.	.	.	.	.	.	.	.	C	4.092	0.015128	0.07959	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.18810	2.26;2.19	3.57	2.53	0.30540	.	0.860532	0.09874	N	0.744523	T	0.09069	0.0224	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.39333	-0.9619	10	0.09590	T	0.72	.	6.2482	0.20832	0.0:0.8528:0.0:0.1472	.	689;689	E5RFB8;Q96GP6	.;SREC2_HUMAN	K	689;689;694	ENSP00000385589:E689K;ENSP00000266214:E694K	ENSP00000266214:E694K	E	-	1	0	SCARF2	19110198	0.630000	0.27155	0.213000	0.23690	0.167000	0.22549	1.327000	0.33746	0.829000	0.34733	0.440000	0.28878	GAG		PASS	0.721	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1			4	13	4	13	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26272168	26272168	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr22:26272168G>A	ENST00000407587.2	+	24	4265	c.4096G>A	c.(4096-4098)Gct>Act	p.A1366T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A1365T|MYO18B_ENST00000335473.7_Missense_Mutation_p.A1365T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1365						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A1366T(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCGCCGACTGGCTGCACAGTG	0.572																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(4093-4095)GCT>ACT		myosin XVIIIB							40.0	43.0	42.0					22																	26272168		2072	4197	6269	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26272168G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4096G>A	22.37:g.26272168G>A	ENSP00000386096:p.Ala1366Thr					MYO18B_uc003aca.1_Missense_Mutation_p.A1246T|MYO18B_uc010guy.1_Missense_Mutation_p.A1247T|MYO18B_uc010guz.1_Missense_Mutation_p.A1246T|MYO18B_uc011aka.1_Missense_Mutation_p.A519T|MYO18B_uc011akb.1_Missense_Mutation_p.A878T	p.A1365T	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			24	4343	+			1365			IQ.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4093G>A		.	.	.	.	.	.	.	.	.	.	G	25.8	4.675240	0.88445	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.76968	-1.06;-1.06;-1.06	5.05	5.05	0.67936	.	0.137747	0.47852	D	0.000207	D	0.89413	0.6708	M	0.87682	2.9	0.44042	D	0.996771	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	D	0.91197	0.4988	10	0.87932	D	0	.	16.2454	0.82441	0.0:0.0:1.0:0.0	.	878;1365;1366;1365	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	T	1365;1365;1366	ENSP00000441229:A1365T;ENSP00000334563:A1365T;ENSP00000386096:A1366T	ENSP00000334563:A1365T	A	+	1	0	MYO18B	24602168	1.000000	0.71417	0.995000	0.50966	0.858000	0.48976	7.623000	0.83113	2.501000	0.84356	0.650000	0.86243	GCT		PASS	0.572	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		5	15	5	15	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26773647	26773647	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr22:26773647A>T	ENST00000248933.6	+	16	3046	c.2951A>T	c.(2950-2952)tAc>tTc	p.Y984F	SEZ6L_ENST00000404234.3_Missense_Mutation_p.Y983F|SEZ6L_ENST00000402979.1_Missense_Mutation_p.Y756F|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000411842.2_Missense_Mutation_p.T132S|SEZ6L_ENST00000529632.2_Missense_Mutation_p.Y973F|SEZ6L_ENST00000343706.4_Missense_Mutation_p.Y908F|SEZ6L_ENST00000360929.3_Missense_Mutation_p.Y909F|SEZ6L_ENST00000403121.1_Missense_Mutation_p.Y680F			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	984					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.Y984F(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						AGATGTCGCTACTATTCCAAC	0.512																																						uc003acb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2950-2952)TAC>TTC		seizure related 6 homolog (mouse)-like							169.0	142.0	151.0					22																	26773647		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26773647A>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.2951A>T	22.37:g.26773647A>T	ENSP00000248933:p.Tyr984Phe					SEZ6L_uc003acc.2_Missense_Mutation_p.Y983F|SEZ6L_uc011akc.1_Missense_Mutation_p.Y973F|SEZ6L_uc003acd.2_Missense_Mutation_p.Y909F|SEZ6L_uc011akd.1_Missense_Mutation_p.Y971F|SEZ6L_uc003ace.2_Missense_Mutation_p.Y908F|SEZ6L_uc003acf.1_Missense_Mutation_p.Y756F|SEZ6L_uc010gvc.1_Missense_Mutation_p.Y680F|SEZ6L_uc011ake.1_RNA	p.Y984F	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			16	3107	+			984			Cytoplasmic (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2951A>T	CCDS13833.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.61|16.61	3.171138|3.171138	0.57584|0.57584	.|.	.|.	ENSG00000100095|ENSG00000100095	ENST00000411842|ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T|T;T;T;T;T;T;T	0.32272|0.28895	1.46|1.92;2.04;2.17;1.9;1.68;1.59;1.9	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.571262	.|0.15751	.|N	.|0.246417	T|T	0.36276|0.36276	0.0961|0.0961	L|L	0.44542|0.44542	1.39|1.39	0.24537|0.24537	N|N	0.994082|0.994082	.|D;D;P;D;P;D;D	.|0.63046	.|0.969;0.992;0.792;0.987;0.952;0.992;0.992	.|P;P;B;P;P;P;P	.|0.52066	.|0.474;0.676;0.16;0.689;0.453;0.676;0.676	T|T	0.12604|0.12604	-1.0541|-1.0541	7|10	0.10377|0.29301	T|T	0.69|0.29	.|.	12.9398|12.9398	0.58335|0.58335	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|971;973;680;908;909;983;984	.|B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.|.;.;.;.;.;.;SE6L1_HUMAN	S|F	132|983;973;909;984;908;680;756	ENSP00000397274:T132S|ENSP00000384772:Y983F;ENSP00000437037:Y973F;ENSP00000354185:Y909F;ENSP00000248933:Y984F;ENSP00000342661:Y908F;ENSP00000384838:Y680F;ENSP00000384733:Y756F	ENSP00000397274:T132S|ENSP00000248933:Y984F	T|Y	+|+	1|2	0|0	SEZ6L|SEZ6L	25103647|25103647	1.000000|1.000000	0.71417|0.71417	0.908000|0.908000	0.35775|0.35775	0.428000|0.428000	0.31595|0.31595	7.977000|7.977000	0.88081|0.88081	1.929000|1.929000	0.55896|0.55896	0.379000|0.379000	0.24179|0.24179	ACT|TAC		PASS	0.512	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			32	40	32	40	---	---	---	---
CHEK2	11200	broad.mit.edu	37	22	29092887	29092887	+	Splice_Site	SNP	A	A	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr22:29092887A>G	ENST00000405598.1	-	11	1287		c.e11+1		CHEK2_ENST00000402731.1_Intron|CHEK2_ENST00000403642.1_Splice_Site|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000404276.1_Splice_Site|CHEK2_ENST00000328354.6_Splice_Site|CHEK2_ENST00000382580.2_Splice_Site|CHEK2_ENST00000382578.1_Splice_Site|CHEK2_ENST00000544772.1_Splice_Site|CHEK2_ENST00000382566.1_Splice_Site			O96017	CHK2_HUMAN	checkpoint kinase 2						cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.?(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAATTTCTTACCTTTATAAG	0.358			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			1	Unknown(1)		lung(1)	central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.e10+1	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							122.0	105.0	110.0					22																	29092887		2203	4300	6503	SO:0001630	splice_region_variant	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29092887A>G	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1095+1T>C	22.37:g.29092887A>G						CHEK2_uc003ads.1_Splice_Site_p.K144_splice|CHEK2_uc010gvh.1_Splice_Site_p.K274_splice|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Splice_Site|CHEK2_uc010gvk.1_Splice_Site|CHEK2_uc003adt.1_Splice_Site_p.K408_splice|CHEK2_uc003adv.1_Intron|CHEK2_uc003adw.1_Splice_Site_p.K365_splice|CHEK2_uc003adx.1_Splice_Site_p.K144_splice|CHEK2_uc003ady.1_Splice_Site_p.K365_splice|CHEK2_uc003adz.1_Splice_Site_p.K169_splice	p.K365_splice	NM_007194	NP_009125	O96017	CHK2_HUMAN			10	1167	-								A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Splice_Site	SNP	ENST00000405598.1	37	c.1095_splice	CCDS13843.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.51|16.51	3.143111|3.143111	0.57044|0.57044	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000434810;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642|ENST00000447421	.|T	.|0.54479	.|0.57	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64394	.|0.2594	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68416	.|-0.5414	.|6	.|0.87932	.|D	.|0	.|.	10.8637|10.8637	0.46842|0.46842	0.924:0.0:0.076:0.0|0.924:0.0:0.076:0.0	.|.	.|.	.|.	.|.	.|A	-1|299	.|ENSP00000397478:V299A	.|ENSP00000397478:V299A	.|V	-|-	.|2	.|0	CHEK2|CHEK2	27422887|27422887	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.727000|0.727000	0.41649|0.41649	5.597000|5.597000	0.67577|0.67577	2.089000|2.089000	0.63090|0.63090	0.455000|0.455000	0.32223|0.32223	.|GTA		PASS	0.358	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	Intron	16	18	16	18	---	---	---	---
RFPL2	10739	broad.mit.edu	37	22	32586857	32586857	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr22:32586857A>T	ENST00000400237.1	-	5	1974	c.1039T>A	c.(1039-1041)Tca>Aca	p.S347T	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Missense_Mutation_p.S257T|RFPL2_ENST00000248980.4_Missense_Mutation_p.S286T|RFPL2_ENST00000248983.4_Missense_Mutation_p.S257T			O75678	RFPL2_HUMAN	ret finger protein-like 2	347	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.S347T(1)|p.S257T(1)|p.S286T(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GGTGGAACTGAAGGAGCCAAA	0.488																																						uc003amg.3																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(1039-1041)TCA>ACA		ret finger protein-like 2 isoform 2							51.0	75.0	67.0					22																	32586857		2127	4270	6397	SO:0001583	missense	10739						zinc ion binding	g.chr22:32586857A>T	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.1039T>A	22.37:g.32586857A>T	ENSP00000383096:p.Ser347Thr					RFPL2_uc003ame.3_Missense_Mutation_p.S286T|RFPL2_uc003amf.3_Missense_Mutation_p.S257T|RFPL2_uc003amh.3_Missense_Mutation_p.S257T	p.S347T	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN			5	1975	-			347			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000400237.1	37	c.1039T>A	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	A	6.915	0.538432	0.13250	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	1.24	0.0939	0.14478	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.50565	0.1623	L	0.39514	1.22	0.09310	N	1	P;B	0.36633	0.562;0.034	B;B	0.39027	0.288;0.085	T	0.35400	-0.9790	9	0.20519	T	0.43	.	2.6622	0.05030	0.6411:0.0:0.3589:0.0	.	347;286	O75678;O75678-3	RFPL2_HUMAN;.	T	286;257;257;347	ENSP00000248980:S286T;ENSP00000248983:S257T;ENSP00000383095:S257T;ENSP00000383096:S347T	ENSP00000248980:S286T	S	-	1	0	RFPL2	30916857	0.783000	0.28701	0.023000	0.16930	0.014000	0.08584	0.420000	0.21263	0.465000	0.27167	0.332000	0.21555	TCA		PASS	0.488	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		40	64	40	64	---	---	---	---
SYN3	8224	broad.mit.edu	37	22	32937569	32937569	+	Missense_Mutation	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr22:32937569T>C	ENST00000358763.2	-	8	1147	c.905A>G	c.(904-906)tAc>tGc	p.Y302C	SYN3_ENST00000332840.5_Missense_Mutation_p.Y302C	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	302	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.Y302C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTAAGCCTTGTAGTTGGATCC	0.592																																						uc003amx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(904-906)TAC>TGC		synapsin III isoform IIIa							156.0	133.0	141.0					22																	32937569		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32937569T>C	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.905A>G	22.37:g.32937569T>C	ENSP00000351614:p.Tyr302Cys					SYN3_uc003amy.2_Missense_Mutation_p.Y302C|SYN3_uc003amz.2_Missense_Mutation_p.Y301C	p.Y302C	NM_003490	NP_003481	O14994	SYN3_HUMAN			7	1064	-			302			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.905A>G	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.186202	0.57909	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.38722	1.12;1.12	5.71	4.67	0.58626	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.74839	-0.3528	10	0.62326	D	0.03	-5.0053	11.965	0.53029	0.0:0.0691:0.0:0.9309	.	301;302;302	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	C	302	ENSP00000351614:Y302C;ENSP00000330219:Y302C	ENSP00000330219:Y302C	Y	-	2	0	SYN3	31267569	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.295000	0.72744	2.183000	0.69458	0.454000	0.30748	TAC		PASS	0.592	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			15	18	15	18	---	---	---	---
MCM5	4174	broad.mit.edu	37	22	35809887	35809887	+	Missense_Mutation	SNP	C	C	A	rs199576845		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr22:35809887C>A	ENST00000216122.4	+	9	1265	c.1111C>A	c.(1111-1113)Cgc>Agc	p.R371S	MCM5_ENST00000382011.5_Missense_Mutation_p.R328S|MCM5_ENST00000465557.1_3'UTR	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	371	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.R371S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGGACTTACTCGCCGAGGAGA	0.562																																						uc003anu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1111-1113)CGC>AGC		minichromosome maintenance complex component 5							109.0	94.0	99.0					22																	35809887		2203	4300	6503	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35809887C>A		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1111C>A	22.37:g.35809887C>A	ENSP00000216122:p.Arg371Ser					MCM5_uc010gwr.2_Missense_Mutation_p.R180S|MCM5_uc003anv.3_Missense_Mutation_p.R328S|MCM5_uc010gws.1_Intron|MCM5_uc003anw.1_Missense_Mutation_p.R155S	p.R371S	NM_006739	NP_006730	P33992	MCM5_HUMAN			9	1205	+			371			MCM.		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.1111C>A	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240529	0.79912	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582	T;T	0.06142	3.34;3.34	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.83384	2.64	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	T	0.00505	-1.1700	10	0.72032	D	0.01	-23.793	14.9552	0.71107	0.1428:0.8572:0.0:0.0	.	371;371;328;371	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	S	371;328;280	ENSP00000216122:R371S;ENSP00000371441:R328S	ENSP00000216122:R371S	R	+	1	0	MCM5	34139887	0.999000	0.42202	1.000000	0.80357	0.624000	0.37722	3.542000	0.53625	2.778000	0.95560	0.655000	0.94253	CGC		PASS	0.562	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			26	30	26	30	---	---	---	---
SSTR3	6753	broad.mit.edu	37	22	37602607	37602607	+	Silent	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr22:37602607C>G	ENST00000328544.3	-	2	1769	c.1236G>C	c.(1234-1236)acG>acC	p.T412T	SSTR3_ENST00000402501.1_Silent_p.T412T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	412					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.T412T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	TGATGCGCATCGTGCTGGACT	0.657																																						uc003ara.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1234-1236)ACG>ACC		somatostatin receptor 3							53.0	57.0	56.0					22																	37602607		2203	4300	6503	SO:0001819	synonymous_variant	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37602607C>G		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.1236G>C	22.37:g.37602607C>G						SSTR3_uc003arb.2_Silent_p.T412T	p.T412T	NM_001051	NP_001042	P32745	SSR3_HUMAN			2	1298	-			412			Cytoplasmic (Potential).		A8K550|Q53ZR7	Silent	SNP	ENST00000328544.3	37	c.1236G>C	CCDS13944.1																																																																																				PASS	0.657	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			28	34	28	34	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40080432	40080432	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr22:40080432C>T	ENST00000402142.3	+	36	5956	c.5956C>T	c.(5956-5958)Ccc>Tcc	p.P1986S	CACNA1I_ENST00000401624.1_Missense_Mutation_p.P1986S|CACNA1I_ENST00000400164.3_Missense_Mutation_p.P1951S|CACNA1I_ENST00000407673.1_Missense_Mutation_p.P1951S|CACNA1I_ENST00000404898.1_Missense_Mutation_p.P1951S|CACNA1I_ENST00000336649.4_Missense_Mutation_p.P1992S	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1986					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.P1951S(1)|p.P1986S(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGAACCCTCCCCAAGATTGC	0.637																																						uc003ayc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(5956-5958)CCC>TCC		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						38.0	44.0	42.0					22																	40080432		2070	4212	6282	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40080432C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5956C>T	22.37:g.40080432C>T	ENSP00000385019:p.Pro1986Ser					CACNA1I_uc003ayd.2_Missense_Mutation_p.P1951S|CACNA1I_uc003aye.2_Missense_Mutation_p.P1901S|CACNA1I_uc003ayf.2_Missense_Mutation_p.P1866S	p.P1986S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			36	5956	+	Melanoma(58;0.0749)		1986			Cytoplasmic (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.5956C>T	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.718833	0.30503	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96619	-4.03;-4.0;-4.07;-4.03;-4.05;-3.96	5.05	5.05	0.67936	.	511.146000	0.00166	U	0.000001	D	0.93138	0.7815	N	0.17082	0.46	0.31959	N	0.608611	B;B;B;B	0.23377	0.017;0.035;0.084;0.051	B;B;B;B	0.21917	0.011;0.025;0.037;0.016	T	0.80883	-0.1183	10	0.35671	T	0.21	.	11.8551	0.52433	0.0:0.9199:0.0:0.0801	.	1951;1986;1951;1986	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	S	1986;1951;1986;1951;1992;1951	ENSP00000385019:P1986S;ENSP00000384093:P1951S;ENSP00000383887:P1986S;ENSP00000385680:P1951S;ENSP00000337829:P1992S;ENSP00000383028:P1951S	ENSP00000337829:P1992S	P	+	1	0	CACNA1I	38410378	1.000000	0.71417	0.999000	0.59377	0.298000	0.27526	3.257000	0.51500	2.334000	0.79466	0.561000	0.74099	CCC		PASS	0.637	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		4	13	4	13	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40662558	40662558	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr22:40662558G>T	ENST00000454349.2	+	5	2535	c.2324G>T	c.(2323-2325)gGa>gTa	p.G775V	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.G775V|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	775	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TGGGGTGAAGGAGGGCAGAAT	0.498																																						uc011aor.1																			0					0						c.(2323-2325)GGA>GTA		trinucleotide repeat containing 6B isoform 1							73.0	84.0	80.0					22																	40662558		1968	4151	6119	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662558G>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2324G>T	22.37:g.40662558G>T	ENSP00000401946:p.Gly775Val					TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.G775V|TNRC6B_uc003ayo.2_Missense_Mutation_p.G579V	p.G775V	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			5	2535	+			775					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.2324G>T	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.230|9.230	1.035609|1.035609	0.19590|0.19590	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000446273|ENST00000454349;ENST00000400140;ENST00000335727	.|T;T	.|0.11930	.|2.75;2.73	5.45|5.45	4.4|4.4	0.53042|0.53042	.|.	.|0.246301	.|0.42420	.|D	.|0.000714	.|T	.|0.08223	.|0.0205	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.55605	.|0.972;0.192;0.129	.|P;B;B	.|0.48304	.|0.573;0.048;0.046	.|T	.|0.40251	.|-0.9573	.|10	.|0.30078	.|T	.|0.28	-3.2621|-3.2621	10.2756|10.2756	0.43507|0.43507	0.0:0.2765:0.5807:0.1428|0.0:0.2765:0.5807:0.1428	.|.	.|775;775;775	.|Q9UPQ9;A8MYY3;Q9UPQ9-1	.|TNR6B_HUMAN;.;.	X|V	518|775	.|ENSP00000401946:G775V;ENSP00000338371:G775V	.|ENSP00000338371:G775V	E|G	+|+	1|2	0|0	TNRC6B|TNRC6B	38992504|38992504	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.985000|0.985000	0.73830|0.73830	4.136000|4.136000	0.58004|0.58004	1.243000|1.243000	0.43853|0.43853	0.556000|0.556000	0.70494|0.70494	GAG|GGA		PASS	0.498	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				13	11	13	11	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41565529	41565529	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr22:41565529G>A	ENST00000263253.7	+	26	5414	c.4195G>A	c.(4195-4197)Gat>Aat	p.D1399N	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1399	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with histone. {ECO:0000269|PubMed:18273021}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.D1399N(5)|p.D1399Y(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATCTTACCTCGATAGTGTTCA	0.338			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3				Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		7	Substitution - Missense(7)	p.D1399Y(1)	lung(3)|upper_aerodigestive_tract(1)|stomach(1)|central_nervous_system(1)|cervix(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4195-4197)GAT>AAT		E1A binding protein p300							98.0	93.0	95.0					22																	41565529		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41565529G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4195G>A	22.37:g.41565529G>A	ENSP00000263253:p.Asp1399Asn						p.D1399N	NM_001429	NP_001420	Q09472	EP300_HUMAN			26	4590	+			1399	D->Y: Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2.				B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4195G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998529	0.93227	.	.	ENSG00000100393	ENST00000263253	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000275	D	0.99743	0.9898	H	0.96633	3.855	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.97288	0.9922	10	0.87932	D	0	-10.979	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1399	Q09472	EP300_HUMAN	N	1399	ENSP00000263253:D1399N	ENSP00000263253:D1399N	D	+	1	0	EP300	39895475	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	GAT		PASS	0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		24	46	24	46	---	---	---	---
MEI1	150365	broad.mit.edu	37	22	42159237	42159237	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr22:42159237A>T	ENST00000401548.3	+	19	2220	c.2180A>T	c.(2179-2181)gAc>gTc	p.D727V	MEI1_ENST00000400107.1_Missense_Mutation_p.D95V|MEI1_ENST00000540833.1_Missense_Mutation_p.D467V|MEI1_ENST00000540880.1_Missense_Mutation_p.D45V|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1									p.D733V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCGCTGCAGGACCAGGGCGAG	0.527											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003baz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2179-2181)GAC>GTC		meiosis defective 1							92.0	90.0	90.0					22																	42159237		1943	4154	6097	SO:0001583	missense	150365						binding	g.chr22:42159237A>T	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2180A>T	22.37:g.42159237A>T	ENSP00000384115:p.Asp727Val		OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.D113V|MEI1_uc003bbc.1_Missense_Mutation_p.D95V|MEI1_uc010gym.1_Missense_Mutation_p.D95V|MEI1_uc003bbd.1_Intron	p.D727V	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			19	2205	+			727						Missense_Mutation	SNP	ENST00000401548.3	37	c.2180A>T	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302585	0.60195	.	.	ENSG00000167077	ENST00000401548;ENST00000540833;ENST00000400107;ENST00000540880	T;T;T;T	0.70045	-0.45;0.65;1.61;1.18	5.67	4.62	0.57501	.	0.408109	0.27000	N	0.021422	T	0.72495	0.3467	L	0.56769	1.78	0.80722	D	1	D;P;B	0.57257	0.979;0.589;0.01	P;B;B	0.55455	0.776;0.344;0.007	T	0.74003	-0.3804	10	0.87932	D	0	-6.2127	10.7504	0.46205	0.8404:0.1596:0.0:0.0	.	95;95;727	Q5TIA1-3;Q5TIA1-2;Q5TIA1	.;.;MEI1_HUMAN	V	727;467;95;45	ENSP00000384115:D727V;ENSP00000444225:D467V;ENSP00000382978:D95V;ENSP00000437436:D45V	ENSP00000382978:D95V	D	+	2	0	MEI1	40489183	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	3.605000	0.54088	0.948000	0.37687	0.533000	0.62120	GAC		PASS	0.527	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		9	32	9	32	---	---	---	---
SLC25A6	293	broad.mit.edu	37	X	1505504	1505504	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:1505504C>G	ENST00000381401.5	-	4	1602	c.888G>C	c.(886-888)aaG>aaC	p.K296N	SLC25A6_ENST00000475167.1_5'Flank	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	296					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)	p.K296N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CTTAGATCACCTTCTTGAGCT	0.612																																						uc004cpt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(886-888)AAG>AAC		adenine nucleotide translocator 3	Clodronate(DB00720)						196.0	187.0	190.0					X																	1505504		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1505504C>G	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.888G>C	X.37:g.1505504C>G	ENSP00000370808:p.Lys296Asn					SLC25A6_uc004cpu.2_RNA	p.K296N	NM_001636	NP_001627	P12236	ADT3_HUMAN			4	984	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	296			Helical; Name=6; (By similarity).|Solcar 3.		Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.888G>C	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	3.633	-0.075080	0.07184	.	.	ENSG00000169100	ENST00000381401	T	0.80304	-1.36	1.85	-3.19	0.05171	Mitochondrial carrier domain (1);	0.000000	0.52532	U	0.000069	T	0.71651	0.3365	L	0.53729	1.69	0.09310	N	1	B	0.16396	0.017	B	0.25884	0.064	T	0.59700	-0.7405	10	0.46703	T	0.11	.	9.151	0.36962	0.0:0.3012:0.0:0.6988	.	296	P12236	ADT3_HUMAN	N	296	ENSP00000370808:K296N	ENSP00000370808:K296N	K	-	3	2	SLC25A6	1465504	0.201000	0.23410	0.364000	0.25888	0.504000	0.33889	-0.092000	0.11129	-0.914000	0.03827	-0.510000	0.04470	AAG		PASS	0.612	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		52	73	52	73	---	---	---	---
MAP3K15	389840	broad.mit.edu	37	X	19389643	19389643	+	Silent	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:19389643G>T	ENST00000338883.4	-	23	3113	c.3114C>A	c.(3112-3114)tcC>tcA	p.S1038S	MAP3K15_ENST00000359173.3_Silent_p.S473S|MAP3K15_ENST00000469203.2_Silent_p.S870S|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1038							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.S513S(1)|p.S1085S(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCAACTCTTCGGAACTCTGAA	0.468																																						uc004czk.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.(1537-1539)TCC>TCA		mitogen-activated protein kinase kinase kinase							85.0	67.0	73.0					X																	19389643		2203	4300	6503	SO:0001819	synonymous_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19389643G>T	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3114C>A	X.37:g.19389643G>T						MAP3K15_uc004czj.1_Silent_p.S473S|MAP3K15_uc004czi.1_5'UTR	p.S513S	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			24	3176	-	Hepatocellular(33;0.183)		1038					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	37	c.1539C>A																																																																																					PASS	0.468	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		30	4	30	4	---	---	---	---
MAGEB18	286514	broad.mit.edu	37	X	26157961	26157961	+	Missense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:26157961T>A	ENST00000325250.1	+	2	1046	c.859T>A	c.(859-861)Ttt>Att	p.F287I		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	287	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)		p.F287I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGTCCTGGAGTTTGTAGCCAA	0.522																																						uc004dbq.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(859-861)TTT>ATT		melanoma antigen family B, 18							88.0	61.0	70.0					X																	26157961		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26157961T>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.859T>A	X.37:g.26157961T>A	ENSP00000314543:p.Phe287Ile						p.F287I	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			2	1046	+			287			MAGE.			Missense_Mutation	SNP	ENST00000325250.1	37	c.859T>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.211937	0.58452	.	.	ENSG00000176774	ENST00000325250	T	0.03035	4.07	4.56	4.56	0.56223	.	0.051332	0.85682	D	0.000000	T	0.22244	0.0536	M	0.93507	3.425	0.36321	D	0.858224	D	0.89917	1.0	D	0.77557	0.99	T	0.23583	-1.0184	10	0.56958	D	0.05	.	9.2945	0.37806	0.0:0.0:0.0:1.0	.	287	Q96M61	MAGBI_HUMAN	I	287	ENSP00000314543:F287I	ENSP00000314543:F287I	F	+	1	0	MAGEB18	26067882	0.960000	0.32886	0.995000	0.50966	0.422000	0.31414	1.312000	0.33574	2.017000	0.59298	0.486000	0.48141	TTT		PASS	0.522	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		10	7	10	7	---	---	---	---
MAGEB6	158809	broad.mit.edu	37	X	26212377	26212377	+	Silent	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:26212377T>A	ENST00000379034.1	+	2	563	c.414T>A	c.(412-414)acT>acA	p.T138T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	138	Ser-rich.							p.T138T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTCCAAGCACTTCCCATGATG	0.537																																						uc004dbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(412-414)ACT>ACA		melanoma antigen family B, 6							85.0	78.0	80.0					X																	26212377		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212377T>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.414T>A	X.37:g.26212377T>A						MAGEB6_uc010ngc.1_5'UTR	p.T138T	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	563	+			138			Ser-rich.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.414T>A	CCDS14217.1																																																																																				PASS	0.537	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		35	8	35	8	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34148160	34148160	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:34148160T>A	ENST00000346193.3	-	1	2287	c.2236A>T	c.(2236-2238)Aag>Tag	p.K746*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	746								p.K746*(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCATAGCCCTTGCTTAGAATG	0.413																																						uc004ddg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(2236-2238)AAG>TAG		hypothetical protein LOC158724							117.0	115.0	116.0					X																	34148160		2202	4297	6499	SO:0001587	stop_gained	158724							g.chrX:34148160T>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2236A>T	X.37:g.34148160T>A	ENSP00000345029:p.Lys746*						p.K746*	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	2269	-			746					A8K8I9|Q8TAA0	Nonsense_Mutation	SNP	ENST00000346193.3	37	c.2236A>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	T	31	5.059936	0.93846	.	.	ENSG00000185448	ENST00000346193	.	.	.	1.17	1.17	0.20885	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2137	0.10524	0.0:0.0:0.0:1.0	.	.	.	.	X	746	.	ENSP00000345029:K746X	K	-	1	0	FAM47A	34058081	0.813000	0.29090	0.299000	0.25016	0.460000	0.32559	0.853000	0.27777	0.724000	0.32296	0.441000	0.28932	AAG		PASS	0.413	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		59	20	59	20	---	---	---	---
SLC7A3	84889	broad.mit.edu	37	X	70148090	70148090	+	Missense_Mutation	SNP	G	G	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:70148090G>A	ENST00000374299.3	-	5	869	c.725C>T	c.(724-726)tCt>tTt	p.S242F	SLC7A3_ENST00000298085.4_Missense_Mutation_p.S242F			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	242					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)	p.S242F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AAATCCTCCAGAGCCCAGAGG	0.488																																						uc004dyn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(724-726)TCT>TTT		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						44.0	38.0	40.0					X																	70148090		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70148090G>A	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.725C>T	X.37:g.70148090G>A	ENSP00000363417:p.Ser242Phe					SLC7A3_uc004dyo.2_Missense_Mutation_p.S242F	p.S242F	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN			5	883	-	Renal(35;0.156)		242			Helical; Name=6; (Potential).		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.725C>T	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718524	0.30503	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88586	-2.4;-2.4	4.92	4.02	0.46733	Amino acid permease domain (1);	0.354822	0.34133	N	0.004239	D	0.86990	0.6066	L	0.51422	1.61	0.42771	D	0.993838	B	0.24721	0.11	B	0.33196	0.159	D	0.84563	0.0651	10	0.59425	D	0.04	.	12.6519	0.56766	0.0:0.0:0.8339:0.1661	.	242	Q8WY07	CTR3_HUMAN	F	242	ENSP00000363417:S242F;ENSP00000298085:S242F	ENSP00000298085:S242F	S	-	2	0	SLC7A3	70064815	0.001000	0.12720	0.975000	0.42487	0.414000	0.31173	1.018000	0.30002	1.020000	0.39573	0.529000	0.55759	TCT		PASS	0.488	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		7	3	7	3	---	---	---	---
CXCR3	2833	broad.mit.edu	37	X	70836893	70836893	+	Silent	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:70836893G>C	ENST00000373693.3	-	2	496	c.429C>G	c.(427-429)gcC>gcG	p.A143A	CXCR3_ENST00000373691.4_Silent_p.A190A	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	143					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.A143A(1)		breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					AGCTGATGCAGGCCAGCAGGA	0.637																																						uc004eaf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(427-429)GCC>GCG		chemokine (C-X-C motif) receptor 3 isoform A							24.0	23.0	23.0					X																	70836893		2203	4300	6503	SO:0001819	synonymous_variant	2833				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity	g.chrX:70836893G>C	U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.429C>G	X.37:g.70836893G>C						BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Silent_p.A190A	p.A143A	NM_001504	NP_001495	P49682	CXCR3_HUMAN			2	497	-	Renal(35;0.156)		143			Helical; Name=3; (Potential).		B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Silent	SNP	ENST00000373693.3	37	c.429C>G	CCDS14416.1																																																																																				PASS	0.637	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			4	4	4	4	---	---	---	---
ITM2A	9452	broad.mit.edu	37	X	78619025	78619025	+	Silent	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:78619025T>C	ENST00000373298.2	-	2	281	c.138A>G	c.(136-138)aaA>aaG	p.K46K	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Intron	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	46						integral component of membrane (GO:0016021)		p.K46K(1)		breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGGAGCCCTCTTTTTCCTGGG	0.403																																						uc004edh.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(136-138)AAA>AAG		integral membrane protein 2A							47.0	43.0	44.0					X																	78619025		2203	4299	6502	SO:0001819	synonymous_variant	9452					integral to membrane	protein binding	g.chrX:78619025T>C	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.138A>G	X.37:g.78619025T>C						ITM2A_uc011mqr.1_Intron	p.K46K	NM_004867	NP_004858	O43736	ITM2A_HUMAN			2	473	-			46					B2R7X5|B4E062|Q6IBC9	Silent	SNP	ENST00000373298.2	37	c.138A>G	CCDS14444.1																																																																																				PASS	0.403	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		7	5	7	5	---	---	---	---
TGIF2LX	90316	broad.mit.edu	37	X	89177512	89177512	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:89177512C>A	ENST00000561129.2	+	1	558	c.428C>A	c.(427-429)cCg>cAg	p.P143Q	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P143Q			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P143Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCGTCTGTGCCGGCCAAGTCA	0.587																																						uc004efe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(427-429)CCG>CAG		TGFB-induced factor homeobox 2-like, X-linked							59.0	57.0	58.0					X																	89177512		2203	4300	6503	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177512C>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.428C>A	X.37:g.89177512C>A	ENSP00000453704:p.Pro143Gln						p.P143Q	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	477	+			143					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.428C>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	C	0.790	-0.759065	0.03019	.	.	ENSG00000153779	ENST00000283891	T	0.65364	-0.15	2.8	0.404	0.16355	.	0.558441	0.11854	N	0.523069	T	0.42494	0.1205	L	0.33485	1.01	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.19844	-1.0293	9	.	.	.	-14.8634	2.7766	0.05349	0.5391:0.2935:0.1674:0.0	.	143	Q8IUE1	TF2LX_HUMAN	Q	143	ENSP00000355119:P143Q	.	P	+	2	0	TGIF2LX	89064168	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.045000	0.14013	-0.005000	0.14395	-0.507000	0.04495	CCG		PASS	0.587	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		28	11	28	11	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91134039	91134039	+	Missense_Mutation	SNP	G	G	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:91134039G>T	ENST00000373094.1	+	2	3645	c.2800G>T	c.(2800-2802)Gat>Tat	p.D934Y	PCDH11X_ENST00000395337.2_Missense_Mutation_p.D934Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D934Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D934Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D934Y|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D934Y|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D934Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D934Y|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D934Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	934					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.D934Y(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						CGACAGCCCTGATTTGGCCCG	0.473																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2800-2802)GAT>TAT		protocadherin 11 X-linked isoform c							181.0	160.0	167.0					X																	91134039		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134039G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2800G>T	X.37:g.91134039G>T	ENSP00000362186:p.Asp934Tyr					PCDH11X_uc004efl.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efo.1_Missense_Mutation_p.D934Y|PCDH11X_uc010nmv.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efm.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efn.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efh.1_Missense_Mutation_p.D934Y|PCDH11X_uc004efj.1_Missense_Mutation_p.D934Y	p.D934Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3645	+			934			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2800G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991928	0.35131	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.16	5.16	0.70880	Protocadherin (1);	0.051491	0.85682	D	0.000000	T	0.74450	0.3718	M	0.80422	2.495	0.50171	D	0.999852	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	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	T	0.79075	-0.1952	10	0.87932	D	0	.	16.6258	0.84970	0.0:0.0:1.0:0.0	.	934;934;934;934;934;934;934;934	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	Y	934	ENSP00000378746:D934Y;ENSP00000362186:D934Y;ENSP00000362189:D934Y;ENSP00000355040:D934Y;ENSP00000362180:D934Y;ENSP00000423762:D934Y;ENSP00000355105:D934Y;ENSP00000384758:D934Y;ENSP00000298274:D934Y	ENSP00000298274:D934Y	D	+	1	0	PCDH11X	91020695	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	9.114000	0.94329	2.127000	0.65507	0.600000	0.82982	GAT		PASS	0.473	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		67	14	67	14	---	---	---	---
DRP2	1821	broad.mit.edu	37	X	100509889	100509889	+	Missense_Mutation	SNP	C	C	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:100509889C>T	ENST00000395209.3	+	19	2683	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F	DRP2_ENST00000541709.1_Missense_Mutation_p.S641F|DRP2_ENST00000402866.1_Missense_Mutation_p.S719F|DRP2_ENST00000538510.1_Missense_Mutation_p.S719F	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	719					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S716F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GACACACACTCCCGAATTGAG	0.577																																						uc004egz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2155-2157)TCC>TTC		dystrophin related protein 2							121.0	97.0	105.0					X																	100509889		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100509889C>T	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2156C>T	X.37:g.100509889C>T	ENSP00000378635:p.Ser719Phe					DRP2_uc011mrh.1_Missense_Mutation_p.S641F	p.S719F	NM_001939	NP_001930	Q13474	DRP2_HUMAN			19	2525	+			719					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.2156C>T	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199533	0.79015	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	4.73	4.73	0.59995	.	0.157584	0.64402	D	0.000019	D	0.93831	0.8027	M	0.86178	2.8	0.58432	D	0.999999	D	0.65815	0.995	D	0.72982	0.979	D	0.94936	0.8087	10	0.87932	D	0	-12.0203	16.5016	0.84259	0.0:1.0:0.0:0.0	.	719	Q13474	DRP2_HUMAN	F	719;719;641;719	ENSP00000385038:S719F;ENSP00000378635:S719F;ENSP00000444752:S641F;ENSP00000441051:S719F	ENSP00000378635:S719F	S	+	2	0	DRP2	100396545	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.041000	0.49807	2.174000	0.68829	0.544000	0.68410	TCC		PASS	0.577	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		38	17	38	17	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118221161	118221161	+	Silent	SNP	T	T	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:118221161T>C	ENST00000402510.2	-	11	4031	c.4032A>G	c.(4030-4032)ccA>ccG	p.P1344P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1344								p.P1344P(1)|p.P1168P(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ATGACATCTGTGGCTGGAATT	0.483																																						uc004era.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(1)	5						c.(4030-4032)CCA>CCG		hypothetical protein LOC57481							212.0	200.0	204.0					X																	118221161		1932	4137	6069	SO:0001819	synonymous_variant	57481							g.chrX:118221161T>C	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4032A>G	X.37:g.118221161T>C							p.P1344P	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	4032	-			1344					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.4032A>G	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	T	3.564	-0.088959	0.07097	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.47	-3.19	0.05171	.	.	.	.	.	T	0.17195	0.0413	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24368	-1.0162	4	.	.	.	.	0.2401	0.00191	0.3783:0.2011:0.151:0.2696	.	.	.	.	A	751	.	.	T	-	1	0	KIAA1210	118105189	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.518000	0.06267	-0.722000	0.04922	-0.567000	0.04161	ACA		PASS	0.483	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		148	45	148	45	---	---	---	---
SAGE1	55511	broad.mit.edu	37	X	134993741	134993741	+	Missense_Mutation	SNP	C	C	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:134993741C>A	ENST00000370709.3	+	17	2150	c.2150C>A	c.(2149-2151)gCt>gAt	p.A717D	SAGE1_ENST00000324447.3_Missense_Mutation_p.A717D|SAGE1_ENST00000537770.1_Missense_Mutation_p.A341D|SAGE1_ENST00000535938.1_Missense_Mutation_p.A717D			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	717						nucleus (GO:0005634)		p.A717D(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)					ATTCCAGATGCTACTGTCATT	0.433																																						uc004ezh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2149-2151)GCT>GAT		sarcoma antigen 1							83.0	82.0	82.0					X																	134993741		2203	4298	6501	SO:0001583	missense	55511							g.chrX:134993741C>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.2150C>A	X.37:g.134993741C>A	ENSP00000359743:p.Ala717Asp					SAGE1_uc010nry.1_Missense_Mutation_p.A686D|SAGE1_uc011mvv.1_Missense_Mutation_p.A341D	p.A717D	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			18	2317	+	Acute lymphoblastic leukemia(192;0.000127)		717					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.2150C>A	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948356	0.34377	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.42131	1.03;1.03;0.98;1.03	2.91	1.97	0.26223	.	2.779790	0.02279	U	0.069255	T	0.50820	0.1638	L	0.29908	0.895	0.09310	N	1	D;D	0.71674	0.973;0.998	P;D	0.67231	0.786;0.95	T	0.39035	-0.9633	10	0.26408	T	0.33	.	7.8129	0.29241	0.2491:0.7509:0.0:0.0	.	341;717	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	D	717;717;341;717	ENSP00000323191:A717D;ENSP00000445959:A717D;ENSP00000438276:A341D;ENSP00000359743:A717D	ENSP00000323191:A717D	A	+	2	0	SAGE1	134821407	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.324000	0.19610	0.185000	0.20105	0.284000	0.19432	GCT		PASS	0.433	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		48	16	48	16	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135428121	135428121	+	Silent	SNP	T	T	A			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:135428121T>A	ENST00000394143.1	+	6	2547	c.2256T>A	c.(2254-2256)ccT>ccA	p.P752P	GPR112_ENST00000394141.1_Silent_p.P547P|GPR112_ENST00000412101.1_Silent_p.P547P|GPR112_ENST00000370652.1_Silent_p.P752P|GPR112_ENST00000287534.4_Silent_p.P689P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	752					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P752P(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAATATGCCTGAATTTAAAC	0.378																																						uc004ezu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(2254-2256)CCT>CCA		G-protein coupled receptor 112							74.0	63.0	66.0					X																	135428121		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428121T>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2256T>A	X.37:g.135428121T>A						GPR112_uc010nsb.1_Silent_p.P547P|GPR112_uc010nsc.1_Silent_p.P519P	p.P752P	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	2547	+	Acute lymphoblastic leukemia(192;0.000127)		752			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.2256T>A	CCDS35409.1																																																																																				PASS	0.378	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			28	16	28	16	---	---	---	---
CXorf66	347487	broad.mit.edu	37	X	139038632	139038632	+	Nonsense_Mutation	SNP	G	G	C			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:139038632G>C	ENST00000370540.1	-	3	532	c.509C>G	c.(508-510)tCa>tGa	p.S170*		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	170	Ser-rich.					integral component of membrane (GO:0016021)		p.S170*(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TAATTTTTTTGAGCATGATGA	0.398																																						uc004fbb.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(508-510)TCA>TGA		hypothetical protein LOC347487 precursor							328.0	290.0	303.0					X																	139038632		2203	4300	6503	SO:0001587	stop_gained	347487					integral to membrane		g.chrX:139038632G>C		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.509C>G	X.37:g.139038632G>C	ENSP00000359571:p.Ser170*						p.S170*	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			3	531	-			170			Ser-rich.|Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000370540.1	37	c.509C>G	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086615	0.36855	.	.	ENSG00000203933	ENST00000370540	.	.	.	3.46	-0.913	0.10500	.	1.031960	0.07738	N	0.946401	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8414	2.8552	0.05570	0.4445:0.0:0.3478:0.2077	.	.	.	.	X	170	.	.	S	-	2	0	CXorf66	138866298	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-0.569000	0.05902	-0.344000	0.08338	0.583000	0.79449	TCA		PASS	0.398	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		136	51	136	51	---	---	---	---
MIR513C	100302114	broad.mit.edu	37	X	146271304	146271304	+	RNA	SNP	G	G	C	rs376895882		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:146271304G>C	ENST00000401352.1	-	0	1					NR_031709.1				microRNA 513c																		ggcactgtacgctgaatggct	0.428																																						hsa-mir-513c|MI0006649																			0					0															100.0	81.0	87.0					X																	146271304		1566	3581	5147			100302114							g.chrX:146271304G>C			Xq27.3	2011-09-12		2008-12-18	ENSG00000216171	ENSG00000216171		"""ncRNAs / Micro RNAs"""	33934	non-coding RNA	RNA, micro				MIRN513C			Standard	NR_031709		Approved	hsa-mir-513c					X.37:g.146271304G>C																-									RNA	SNP	ENST00000401352.1	37	c.2G>C																																																																																					PASS	0.428	MIR513C-201	KNOWN	basic	miRNA	miRNA		NR_031709		5	1	5	1	---	---	---	---
AVPR2	554	broad.mit.edu	37	X	153171711	153171711	+	Missense_Mutation	SNP	C	C	A	rs193922118|rs113115774		TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:153171711C>A	ENST00000358927.2	+	3	960	c.751C>A	c.(751-753)Cgc>Agc	p.R251S	AVPR2_ENST00000337474.5_Missense_Mutation_p.R251S|AVPR2_ENST00000370049.1_Missense_Mutation_p.R251S			P30518	V2R_HUMAN	arginine vasopressin receptor 2	251					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)	p.R251S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCGCAGGGGACGCCGGACAGG	0.647																																						uc004fjh.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(751-753)CGC>AGC		arginine vasopressin receptor 2 isoform 1	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						76.0	68.0	71.0					X																	153171711		2203	4300	6503	SO:0001583	missense	554				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171711C>A	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.751C>A	X.37:g.153171711C>A	ENSP00000351805:p.Arg251Ser					AVPR2_uc004fjg.3_Missense_Mutation_p.R40S|AVPR2_uc004fji.2_Missense_Mutation_p.R251S	p.R251S	NM_000054	NP_000045	P30518	V2R_HUMAN			2	822	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		251			Cytoplasmic (Potential).		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.751C>A	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.307897	0.00240	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.76839	-1.05;-0.85;-1.05;-0.51	4.13	-0.356	0.12583	GPCR, rhodopsin-like superfamily (1);	10.559800	0.01043	N	0.004328	T	0.55561	0.1928	N	0.12637	0.245	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.17433	0.017;0.018	T	0.50268	-0.8848	10	0.06494	T	0.89	-4.5569	2.5226	0.04683	0.3035:0.4406:0.1489:0.107	.	251;251	P30518-2;P30518	.;V2R_HUMAN	S	251	ENSP00000351805:R251S;ENSP00000393513:R251S;ENSP00000338072:R251S;ENSP00000359066:R251S	ENSP00000338072:R251S	R	+	1	0	AVPR2	152824905	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.398000	0.07259	0.164000	0.19529	-0.819000	0.03115	CGC		PASS	0.647	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			33	9	33	9	---	---	---	---
IL9R	3581	broad.mit.edu	37	X	155239643	155239643	+	Missense_Mutation	SNP	C	C	G			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrX:155239643C>G	ENST00000244174.5	+	9	1314	c.1135C>G	c.(1135-1137)Cct>Gct	p.P379A	IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.P358A	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	379					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.P379A(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACAGGAGGGCCCTGGGACCAG	0.647																																						uc004fnv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1135-1137)CCT>GCT		interleukin 9 receptor precursor							24.0	45.0	38.0					X																	155239643		2120	4269	6389	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155239643C>G	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1135C>G	X.37:g.155239643C>G	ENSP00000244174:p.Pro379Ala					IL9R_uc004fnu.1_3'UTR	p.P379A	NM_002186	NP_002177	Q01113	IL9R_HUMAN			9	1314	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		379			Cytoplasmic (Potential).		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.1135C>G	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	0	-2.617737	0.00118	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.12147	2.71;2.72	1.44	-2.88	0.05682	.	3.250740	0.02779	U	0.120616	T	0.07098	0.0180	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.28638	0.092	T	0.30387	-0.9980	9	0.08837	T	0.75	-7.6835	2.6042	0.04874	0.1873:0.5017:0.1465:0.1645	.	379	Q01113	IL9R_HUMAN	A	379;358	ENSP00000244174:P379A;ENSP00000388918:P358A	ENSP00000244174:P379A	P	+	1	0	IL9R	154892837	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.692000	0.01918	-4.020000	0.00081	-2.582000	0.00168	CCT		PASS	0.647	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		14	36	14	36	---	---	---	---
TBL1Y	90665	broad.mit.edu	37	Y	6938804	6938804	+	Missense_Mutation	SNP	A	A	T			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chrY:6938804A>T	ENST00000383032.1	+	10	1281	c.634A>T	c.(634-636)Agc>Tgc	p.S212C	TBL1Y_ENST00000355162.2_Missense_Mutation_p.S212C|TBL1Y_ENST00000346432.3_Missense_Mutation_p.S212C	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S212C(1)		kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						GAATGAGAATAGCAACGGGGG	0.483																																						uc004frb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)AGC>TGC		transducin beta-like 1Y							85.0	80.0	81.0					Y																	6938804		639	2032	2671	SO:0001583	missense	90665				transcription, DNA-dependent			g.chrY:6938804A>T	AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"""WD repeat domain containing"""	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.634A>T	Y.37:g.6938804A>T	ENSP00000372499:p.Ser212Cys					TBL1Y_uc004frc.2_Missense_Mutation_p.S212C|TBL1Y_uc004frd.2_Missense_Mutation_p.S212C|TBL1Y_uc011nap.1_Missense_Mutation_p.S54C	p.S212C	NM_033284	NP_150600	Q9BQ87	TBL1Y_HUMAN			10	1281	+			212			WD 1.		A1L4B3	Missense_Mutation	SNP	ENST00000383032.1	37	c.634A>T	CCDS14779.1																																																																																				PASS	0.483	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085360.1	NM_033284		38	13	38	13	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75078365	75078371	+	Frame_Shift_Del	DEL	CAAGCCT	CAAGCCT	-			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr1:75078365_75078371delCAAGCCT	ENST00000326665.5	-	9	1341_1347	c.1123_1129delAGGCTTG	c.(1123-1131)aggcttggafs	p.RLG375fs	C1orf173_ENST00000420661.2_Frame_Shift_Del_p.RLG178fs|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		375								p.L376V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CGTTTGCCTCCAAGCCTGGAACCTTTC	0.459																																						uc001dgg.2																			1	Substitution - Missense(1)		prostate(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1123-1131)AGGCTTGGAfs		hypothetical protein LOC127254																																				SO:0001589	frameshift_variant	127254							g.chr1:75078365_75078371delCAAGCCT																												ENST00000326665.5:c.1123_1129delAGGCTTG	1.37:g.75078365_75078371delCAAGCCT	ENSP00000322609:p.Arg375fs					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Frame_Shift_Del_p.R169fs	p.R375fs	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			9	1342_1348	-			375_377					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Frame_Shift_Del	DEL	ENST00000326665.5	37	c.1123_1129delAGGCTTG	CCDS30755.1																																																																																					0.459	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			17	16	17	16	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43483903	43483903	+	Frame_Shift_Del	DEL	G	G	-			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr7:43483903delG	ENST00000395891.2	+	11	1737	c.1132delG	c.(1132-1134)gggfs	p.G378fs	HECW1_ENST00000453890.1_Frame_Shift_Del_p.G378fs	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	378					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AAGCGGCAGTGGGGAACCTCG	0.567																																						uc003tid.1																			0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1132-1134)GGGfs		NEDD4-like ubiquitin-protein ligase 1							56.0	62.0	60.0					7																	43483903		2108	4227	6335	SO:0001589	frameshift_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43483903delG	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1132delG	7.37:g.43483903delG	ENSP00000379228:p.Gly378fs					HECW1_uc011kbi.1_Frame_Shift_Del_p.G378fs	p.G378fs	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	1737	+			378					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Frame_Shift_Del	DEL	ENST00000395891.2	37	c.1132delG	CCDS5469.2																																																																																					0.567	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		21	18	21	18	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529644	5529644	+	Frame_Shift_Del	DEL	G	G	-			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:5529644delG	ENST00000311659.4	-	2	1292	c.1145delC	c.(1144-1146)ccafs	p.P382fs	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank|HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	382										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTGACGATGGGGGAACTCT	0.567																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1																			0				ovary(3)	3						c.(1144-1146)CCAfs		ubiquilin 3							144.0	150.0	148.0					11																	5529644		2201	4297	6498	SO:0001589	frameshift_variant	50613							g.chr11:5529644delG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1145delC	11.37:g.5529644delG	ENSP00000347997:p.Pro382fs					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	p.P382fs	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1231	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	382					Q9NRE0	Frame_Shift_Del	DEL	ENST00000311659.4	37	c.1145delC	CCDS7758.1																																																																																					0.567	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		60	52	60	52	---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133790758	133790758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr11:133790758delC	ENST00000321016.8	-	18	3092	c.2862delG	c.(2860-2862)cggfs	p.R954fs	IGSF9B_ENST00000533871.2_Frame_Shift_Del_p.R954fs			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	954	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGCAGGGGGCCGGGCCTGGC	0.706																																						uc001qgx.3																			0					0						c.(2860-2862)CGGfs		immunoglobulin superfamily, member 9B							13.0	16.0	15.0					11																	133790758		1846	3990	5836	SO:0001589	frameshift_variant	22997					integral to membrane|plasma membrane		g.chr11:133790758delC	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2862delG	11.37:g.133790758delC	ENSP00000317980:p.Arg954fs						p.R954fs	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	3093	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	954			Pro-rich.|Cytoplasmic (Potential).		G5EA26	Frame_Shift_Del	DEL	ENST00000321016.8	37	c.2862delG																																																																																						0.706	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		19	13	19	13	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72956818	72956818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr12:72956818delC	ENST00000261180.4	+	9	2001	c.1905delC	c.(1903-1905)aacfs	p.N635fs	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	635					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)			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						TTCAGAATAACAGGTATGACA	0.264																																						uc001sxa.2																			0				ovary(2)|skin(1)	3						c.(1903-1905)AACfs		thyrotropin-releasing hormone degrading enzyme							71.0	76.0	74.0					12																	72956818		2203	4292	6495	SO:0001589	frameshift_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72956818delC	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.1905delC	12.37:g.72956818delC	ENSP00000261180:p.Asn635fs						p.N635fs	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			9	1935	+			635			Extracellular (Potential).		A5PL19|Q6UWJ4	Frame_Shift_Del	DEL	ENST00000261180.4	37	c.1905delC	CCDS9004.1																																																																																					0.264	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		80	46	80	46	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20248696	20248696	+	Frame_Shift_Del	DEL	G	G	-			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr14:20248696delG	ENST00000315957.4	+	1	296	c.215delG	c.(214-216)tggfs	p.W72fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTGATATTTGGTACTCTTCC	0.428																																						uc010tku.1																			0					0						c.(214-216)TGGfs		olfactory receptor, family 4, subfamily M,							290.0	310.0	303.0					14																	20248696		2203	4300	6503	SO:0001589	frameshift_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248696delG		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.215delG	14.37:g.20248696delG	ENSP00000319654:p.Trp72fs						p.W72fs	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	215	+	all_cancers(95;0.00108)		72			Helical; Name=2; (Potential).		B9EH18|Q6IFA3	Frame_Shift_Del	DEL	ENST00000315957.4	37	c.215delG	CCDS32021.1																																																																																					0.428	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			99	128	99	128	---	---	---	---
ZNF519	162655	broad.mit.edu	37	18	14124370	14124371	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-21-5786-01A-01D-1632-08	TCGA-21-5786-10A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d7404e0f-d171-419b-97d3-807570aba129	6f23b703-d797-4ed4-af3a-b68993090c8b	g.chr18:14124370_14124371delAG	ENST00000590202.1	-	2	260_261	c.108_109delCT	c.(106-111)aactacfs	p.NY36fs	ZNF519_ENST00000589498.1_Frame_Shift_Del_p.NY36fs|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						AGGTTTCTGTAGTTCTCCAACA	0.401																																						uc002kst.1																			0					0						c.(106-111)AACTACfs		zinc finger protein 519																																				SO:0001589	frameshift_variant	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14124370_14124371delAG	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.108_109delCT	18.37:g.14124370_14124371delAG	ENSP00000464872:p.Asn36fs					ZNF519_uc002ksq.1_RNA|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_RNA	p.N36fs	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN			2	261_262	-			36_37			KRAB.			Frame_Shift_Del	DEL	ENST00000590202.1	37	c.108_109delCT	CCDS32797.1																																																																																					0.401	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		76	33	76	33	---	---	---	---
